[{"id":"srd5a2","kind":"target","name":"5-alpha-reductase type 2 (SRD5A2)","aka":[],"tldr":"5-alpha-reductase turns testosterone into the more potent dihydrotestosterone inside the prostate; finasteride and dutasteride block it, and two large trials showed they cut prostate cancer diagnoses by about a quarter while raising concern about high-grade tumours.","summary":"Steroid 5-alpha-reductase type 2 converts testosterone to dihydrotestosterone, the androgen that drives prostate growth. Finasteride (type 2 selective) and dutasteride (types 1 and 2) are approved for benign prostatic enlargement and were tested for prevention in the Prostate Cancer Prevention Trial and the REDUCE trial, where they reduced the overall incidence of prostate cancer but were associated with a small excess of high-grade cancers, so neither is approved for prevention. In castration-resistant prostate cancer, tumour cells raise their own 5-alpha-reductase and other steroidogenic enzymes to make androgens, part of the rationale for abiraterone and the newer androgen receptor blockers.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/SRD5A2","links":[{"label":"UniProt P31213: SRD5A2","url":"https://www.uniprot.org/uniprotkb/P31213/entry"},{"label":"HGNC:11285 SRD5A2","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11285"},{"label":"ChEMBL target CHEMBL1856","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL1856"}],"tags":["chembl-gap"],"related":["androgen-receptor","cyp17a1"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["abiraterone"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"SRD5A2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA group enriched in cancer (Liver Hepatocellular Carcinoma (TCGA), Prostate Adenocarcinoma (TCGA)) and group enriched in normal epididymis, fallopian tube, liver, prostate, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA SRD5A2: RNA group enriched (epididymis 22 nTPM, fallopian tube 19 nTPM, liver 57 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (benign prostatic hyperplasia, prostate carcinoma, prostate cancer); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SRD5A2 tissue","url":"https://www.proteinatlas.org/ENSG00000277893-SRD5A2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas SRD5A2 pathology","url":"https://www.proteinatlas.org/ENSG00000277893-SRD5A2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000277893 associations","url":"https://platform.opentargets.org/target/ENSG00000277893/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11285","ensembl":"ENSG00000277893","uniprot":"P31213","entrez":"6716","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Andersson et al, Nature, 1991, \"Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1944596/","biology":"A membrane enzyme of the endoplasmic reticulum in prostate, genital skin and hair follicles; it is NADPH-dependent and genetic loss causes a disorder of sex development.","whereFound":["Prostate epithelium and stroma","Castration-resistant prostate cancer cells making their own androgens"],"targetClass":"enzyme","prevalence":[{"cancerId":"prostate","pct":"host","measure":"Host enzyme in normal and malignant prostate; finasteride and dutasteride were tested for prevention, not as a tumour marker","source":"https://www.cancer.gov/types/prostate/hp/prostate-prevention-pdq"}]},{"id":"htr3a","kind":"target","name":"5-HT3 receptor (HTR3A)","aka":[],"tldr":"The serotonin receptor on the gut's vagus nerve endings and in the brainstem vomiting centre that chemotherapy triggers. Ondansetron and palonosetron block it, the foundation of modern anti-sickness treatment.","summary":"Chemotherapy damages enterochromaffin cells in the gut lining, releasing serotonin that activates 5-HT3 receptors on vagal afferents and in the area postrema to provoke acute vomiting. 5-HT3 antagonists, first ondansetron in 1991 and later granisetron and the long-acting palonosetron, block this pathway and transformed the experience of cisplatin-based and anthracycline-based chemotherapy. They are combined with an NK1 antagonist and dexamethasone for highly emetogenic regimens; constipation, headache and QT prolongation are the main side effects.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/5-HT3_receptor","links":[{"label":"UniProt P46098: HTR3A","url":"https://www.uniprot.org/uniprotkb/P46098/entry"}],"tags":[],"related":["tacr1"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["ondansetron","palonosetron","granisetron","dolasetron"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"HTR3A","role":[],"sources":[],"specificity":"tumour-associated","distribution":"not-established","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Ovary Serous Cystadenocarcinoma (TCGA)) and group enriched in normal brain, intestine, lymphoid tissue, pancreas, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA HTR3A: RNA group enriched (brain 2 nTPM, intestine 2 nTPM, lymphoid tissue 8 nTPM); blood lineage group enriched (B-cells 14 nTPM, dendritic cells 12 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HTR3A tissue","url":"https://www.proteinatlas.org/ENSG00000166736-HTR3A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HTR3A pathology","url":"https://www.proteinatlas.org/ENSG00000166736-HTR3A/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000166736 associations","url":"https://platform.opentargets.org/target/ENSG00000166736/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5297","ensembl":"ENSG00000166736","uniprot":"P46098","entrez":"3359","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miyake et al, Mol. Pharmacol, 1995, \"Molecular cloning of human 5-hydroxytryptamine3 receptor: heterogeneity in distribution and function among species\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7565620/","biology":"Ligand-gated ion channel for serotonin on vagal afferents and in the brainstem chemoreceptor trigger zone; blocked by setron antiemetics.","whereFound":["Supportive care: prevention of chemotherapy-induced nausea and vomiting"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"host","measure":"Host target: serotonin receptor on gut vagal endings and the vomiting centre. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"a1cf","kind":"target","name":"A1CF","aka":["APOBEC1 complementation factor","ACF64","ACF65","APOBEC1CF"],"tldr":"A1CF (APOBEC1 complementation factor) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docking the catalytic subunit, APOBEC1, to the mRNA to allow it to deaminate its target cytosine. The complex also protects the edited APOB mRNA from nonsense-mediated decay.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.77, genetic association 0.58, somatic mutation 0.50).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24086","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24086"},{"label":"UniProt Q9NQ94","url":"https://www.uniprot.org/uniprotkb/Q9NQ94/entry"},{"label":"NCBI Gene 29974","url":"https://www.ncbi.nlm.nih.gov/gene/29974"},{"label":"Ensembl ENSG00000148584","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148584"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"A1CF","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:24086","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24086","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NQ94","url":"https://www.uniprot.org/uniprotkb/Q9NQ94/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000148584","url":"https://platform.opentargets.org/target/ENSG00000148584/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:24086","ensembl":"ENSG00000148584","uniprot":"Q9NQ94","entrez":"29974","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lellek et al, J. Biol. Chem, 2000, \"Purification and molecular cloning of a novel essential component of the apolipoprotein B mRNA editing enzyme-complex\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10781591/","biology":"Essential component of the apolipoprotein B mRNA editing enzyme complex which is responsible for the postranscriptional editing of a CAA codon for Gln to a UAA codon for stop in APOB mRNA. Binds to APOB mRNA and is probably responsible for docking the catalytic subunit, APOBEC1, to the mRNA to allow it to deaminate its target cytosine. The complex also protects the edited APOB mRNA from nonsense-mediated decay. Location: Nucleus; Endoplasmic reticulum; Cytoplasm (UniProt). Locus 10q11.23 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"abcb1","kind":"target","name":"ABCB1","aka":["ATP binding cassette subfamily B member 1","ATP-dependent translocase ABCB1","P-gp","CD243","GP170","ABC20","p-170","PGY1","MDR1"],"tldr":"ABCB1 (ATP-dependent translocase ABCB1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Non-small-cell lung cancer and 1 more.","summary":"Translocates phospholipids and drugs across the membrane. Catalyses the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membrane. Participates mainly to the flop of phosphatidylcholine, phosphatidylethanolamine, beta-D-glucosylceramides and sphingomyelins.\n\nCIViC holds 8 clinical evidence items and 0 assertions across 5 variants, naming Paclitaxel, Crizotinib, Alectinib and Dasatinib and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:40","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:40"},{"label":"UniProt P08183","url":"https://www.uniprot.org/uniprotkb/P08183/entry"},{"label":"NCBI Gene 5243","url":"https://www.ncbi.nlm.nih.gov/gene/5243"},{"label":"Ensembl ENSG00000085563","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085563"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer","ovarian","nsclc","cml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["drug-efflux-pumps","emt"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 9 therapies; CIViC holds 8 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ABCB1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:40","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:40","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08183","url":"https://www.uniprot.org/uniprotkb/P08183/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ABCB1","url":"https://civicdb.org/features/4244","note":"8 evidence items, 0 assertions, 5 variants; diseases: Lung Non-small Cell Carcinoma, Breast Cancer, Lung Adenocarcinoma, Chronic Myeloid Leukaemia, Ovarian Cancer (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ABCB1: RNA tissue enhanced (adrenal gland 96 nTPM, intestine 67 nTPM); blood lineage group enriched (NK-cells 18 nTPM, T-cells 27 nTPM); high antibody staining in 2 normal tissues; highest cancer staining liver cancer (1 of 10 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Lung cancer (all types), Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ABCB1 tissue","url":"https://www.proteinatlas.org/ENSG00000085563-ABCB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000085563 associations","url":"https://platform.opentargets.org/target/ENSG00000085563/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:40","ensembl":"ENSG00000085563","uniprot":"P08183","entrez":"5243","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen C.-J. et al, Cell, 1986, \"Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2876781/","biology":"Translocates phospholipids and drugs across the membrane. Catalyses the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membrane. Participates mainly to the flop of phosphatidylcholine, phosphatidylethanolamine, beta-D-glucosylceramides and sphingomyelins. Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells. May contribute to hepatobiliary and renal excretion of etiocholanolone-3-glucuronate. Appears to have very low activity toward testosterone, androsterone and dihydrotestosterone glucuronates. Location: Cell membrane; Apical cell membrane; Cytoplasm (UniProt). Locus 7q21.12 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease","Chronic myeloid leukaemia: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"abcc1","kind":"target","name":"ABCC1","aka":["ATP binding cassette subfamily C member 1 (ABCC1 blood group)","ATP-binding cassette sub-family C member 1","GS-X","MRP1"],"tldr":"ABCC1 (ATP-binding cassette sub-family C member 1) is an enzyme. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"ATP-dependent transporter of the ATP-binding cassette (ABC) family that hydrolyses ATP to enable the active transport of organic anions conjugated with glutathione, glucuronate or sulfate. Operates at the plasma membrane where it mediates the efflux of substrates from the cytoplasm into the extracellular space. The rate of transport is in some way coupled to the reduced glutathione (GSH) intracellular levels.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.84, clinical 0.12).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:51","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:51"},{"label":"UniProt P33527","url":"https://www.uniprot.org/uniprotkb/P33527/entry"},{"label":"NCBI Gene 4363","url":"https://www.ncbi.nlm.nih.gov/gene/4363"},{"label":"Ensembl ENSG00000103222","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103222"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["drug-efflux-pumps"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.12. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ABCC1","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:51","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:51","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P33527","url":"https://www.uniprot.org/uniprotkb/P33527/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000103222","url":"https://platform.opentargets.org/target/ENSG00000103222/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: breast cancer 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ABCC1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining thyroid cancer (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ABCC1 tissue","url":"https://www.proteinatlas.org/ENSG00000103222-ABCC1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000103222 associations","url":"https://platform.opentargets.org/target/ENSG00000103222/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:51","ensembl":"ENSG00000103222","uniprot":"P33527","entrez":"4363","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cole S.P.C. et al, Science, 1992, \"Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell line\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1360704/","biology":"ATP-dependent transporter of the ATP-binding cassette (ABC) family that hydrolyses ATP to enable the active transport of organic anions conjugated with glutathione, glucuronate or sulfate. Operates at the plasma membrane where it mediates the efflux of substrates from the cytoplasm into the extracellular space. The rate of transport is in some way coupled to the reduced glutathione (GSH) intracellular levels. Mediates the systemic release of glutathione-conjugated leukotriene C4 (LTC4) from myeloid cells such as mast cells, as part of the inflammatory response. Exports S-geranylgeranyl-glutathione (GGG) in lymphoid cells and stromal compartments of lymphoid organs. ABCC1 (via extracellular transport) with GGT5 (via GGG catabolism) establish GGG gradients within lymphoid tissues to position P2RY8-positive lymphocytes at germinal centres in lymphoid follicles and restrict their chemotactic transmigration from blood vessels to the bone marrow parenchyma. Location: Cell membrane; Basolateral cell membrane (UniProt). Locus 16p13.11 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"abcc10","kind":"target","name":"ABCC10","aka":["ATP binding cassette subfamily C member 10","ATP-binding cassette sub-family C member 10","EST182763","MRP7","SIMRP7"],"tldr":"ABCC10 (ATP-binding cassette sub-family C member 10) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Lipophilic anion transporter that mediates ATP-dependent transport of glucuronide conjugates such as estradiol-17-beta-o-glucuronide and GSH conjugates such as leukotriene C4 (LTC4). May regulate the transport of organic compounds in testes across the blood-testis-barrier.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Paclitaxel.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:52","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:52"},{"label":"UniProt Q5T3U5","url":"https://www.uniprot.org/uniprotkb/Q5T3U5/entry"},{"label":"NCBI Gene 89845","url":"https://www.ncbi.nlm.nih.gov/gene/89845"},{"label":"Ensembl ENSG00000124574","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124574"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ABCC10","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:52","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:52","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5T3U5","url":"https://www.uniprot.org/uniprotkb/Q5T3U5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ABCC10","url":"https://civicdb.org/features/16656","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ABCC10: RNA low tissue specificity; no normal tissue stained high; highest cancer staining ovarian cancer (2 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ABCC10 tissue","url":"https://www.proteinatlas.org/ENSG00000124574-ABCC10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000124574 associations","url":"https://platform.opentargets.org/target/ENSG00000124574/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:52","ensembl":"ENSG00000124574","uniprot":"Q5T3U5","entrez":"89845","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hattori et al, DNA Res, 2000, \"Characterization of long cDNA clones from human adult spleen\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11214971/","biology":"ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Lipophilic anion transporter that mediates ATP-dependent transport of glucuronide conjugates such as estradiol-17-beta-o-glucuronide and GSH conjugates such as leukotriene C4 (LTC4). May regulate the transport of organic compounds in testes across the blood-testis-barrier. Mediates intercellular propagation of antiviral immune signalling in early stages of infection. In RNA virus-infected cells, oligoadenylate synthase senses viral dsRNA and generates 2',5'-oligoadenylates (2-5A) which act as second messengers to activate RNASEL and type I interferon signalling to inhibit viral replication. This innate signalling pathway is locally extended and amplified by ABCC10, which exports 2-5A from virus-infected cells to cross-activates RNASEL in uninfected neighboring cells and confers protection against viral infection. Location: Cell membrane; Basolateral cell membrane; Basal cell membrane (UniProt). Locus 6p21.1 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"abcc3","kind":"target","name":"ABCC3","aka":["ATP binding cassette subfamily C member 3","ATP-binding cassette sub-family C member 3","MRP3","cMOAT2","EST90757","MLP2","MOAT-D"],"tldr":"ABCC3 (ATP-binding cassette sub-family C member 3) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"ATP-dependent transporter of the ATP-binding cassette (ABC) family that hydrolyses ATP to enable active transport of substrates conjugated with glucuronate, glutathione or sulfate. Operates at basolateral membranes of polarised cells such as hepatocytes and intestinal epithelial cells, where it mediates the efflux of conjugated substrates from intestine and liver into the bloodstream. Involved in enterohepatic recirculation of steroid glucuronates.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Paclitaxel and Monomethyl Auristatin E.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:54","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:54"},{"label":"UniProt O15438","url":"https://www.uniprot.org/uniprotkb/O15438/entry"},{"label":"NCBI Gene 8714","url":"https://www.ncbi.nlm.nih.gov/gene/8714"},{"label":"Ensembl ENSG00000108846","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108846"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ABCC3","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:54","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:54","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15438","url":"https://www.uniprot.org/uniprotkb/O15438/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ABCC3","url":"https://civicdb.org/features/6906","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ABCC3: RNA tissue enhanced (adrenal gland 58 nTPM, liver 49 nTPM); blood lineage lineage enriched (monocytes 6 nTPM); high antibody staining in 7 normal tissues; highest cancer staining thyroid cancer (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ABCC3 tissue","url":"https://www.proteinatlas.org/ENSG00000108846-ABCC3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108846 associations","url":"https://platform.opentargets.org/target/ENSG00000108846/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:54","ensembl":"ENSG00000108846","uniprot":"O15438","entrez":"8714","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kool et al, Cancer Res, 1997, \"Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9270026/","biology":"ATP-dependent transporter of the ATP-binding cassette (ABC) family that hydrolyses ATP to enable active transport of substrates conjugated with glucuronate, glutathione or sulfate. Operates at basolateral membranes of polarised cells such as hepatocytes and intestinal epithelial cells, where it mediates the efflux of conjugated substrates from intestine and liver into the bloodstream. Involved in enterohepatic recirculation of steroid glucuronates. Shares substrate specificity with MRP2, displaying higher affinity for both oestrogen and androgen glucuronates such as 17beta-estradiol, estrone, testosterone and 5alpha-dihydrotestosterone glucuronates. Involved in sinusoidal efflux of mono- and bis-glucuronidated bilirubin from hepatocytes into the blood for renal uptake and excretion. May selectively transport steroid sulfate conjugates. Location: Basolateral cell membrane; Basal cell membrane (UniProt). Locus 17q21.33 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"abcc4","kind":"target","name":"ABCC4","aka":["ATP binding cassette subfamily C member 4 (PEL blood group)","ATP-binding cassette sub-family C member 4","MRP4","EST170205","MOAT-B","MOATB"],"tldr":"ABCC4 (ATP-binding cassette sub-family C member 4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Angiosarcoma.","summary":"ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds and xenobiotics from cells. Transports a range of endogenous molecules that have a key role in cellular communication and signalling, including cyclic nucleotides such as cyclic AMP (cAMP) and cyclic GMP (cGMP), bile acids, steroid conjugates, urate, and prostaglandins. Mediates the ATP-dependent efflux of glutathione conjugates such as leukotriene C4 (LTC4) and leukotriene B4 (LTB4) too.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Angiosarcoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:55","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:55"},{"label":"UniProt O15439","url":"https://www.uniprot.org/uniprotkb/O15439/entry"},{"label":"NCBI Gene 10257","url":"https://www.ncbi.nlm.nih.gov/gene/10257"},{"label":"Ensembl ENSG00000125257","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125257"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["angiosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ABCC4","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:55","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:55","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15439","url":"https://www.uniprot.org/uniprotkb/O15439/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ABCC4","url":"https://www.intogen.org/search?gene=ABCC4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:55","ensembl":"ENSG00000125257","uniprot":"O15439","entrez":"10257","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kool et al, Cancer Res, 1997, \"Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9270026/","biology":"ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds and xenobiotics from cells. Transports a range of endogenous molecules that have a key role in cellular communication and signalling, including cyclic nucleotides such as cyclic AMP (cAMP) and cyclic GMP (cGMP), bile acids, steroid conjugates, urate, and prostaglandins. Mediates the ATP-dependent efflux of glutathione conjugates such as leukotriene C4 (LTC4) and leukotriene B4 (LTB4) too. The presence of GSH is necessary for the ATP-dependent transport of LTB4, whereas GSH is not required for the transport of LTC4. Mediates the cotransport of bile acids with reduced glutathione (GSH). May contribute to hepatic, intestinal and renal excretion of steroid conjugates. Location: Basolateral cell membrane; Apical cell membrane (UniProt). Locus 13q32.1 (HGNC).","whereFound":["Angiosarcoma: IntOGen driver in 1 cohort (ANGS)"],"targetClass":"oncogene","prevalence":[]},{"id":"abcg2","kind":"target","name":"ABCG2","aka":["ATP binding cassette subfamily G member 2 (JR blood group)","Broad substrate specificity ATP-binding cassette transporter ABCG2","EST157481","CD338"],"tldr":"ABCG2 (Broad substrate specificity ATP-binding cassette transporter ABCG2) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer.","summary":"Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells. Involved in porphyrin homeostasis, mediating the export of protoporphyrin IX (PPIX) from both mitochondria to cytosol and cytosol to extracellular space, it also functions in the cellular export of heme. Also mediates the efflux of sphingosine-1-P from cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:74","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:74"},{"label":"UniProt Q9UNQ0","url":"https://www.uniprot.org/uniprotkb/Q9UNQ0/entry"},{"label":"NCBI Gene 9429","url":"https://www.ncbi.nlm.nih.gov/gene/9429"},{"label":"Ensembl ENSG00000118777","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118777"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["blood-brain-barrier-metastasis","drug-efflux-pumps","emt"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ABCG2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:74","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:74","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UNQ0","url":"https://www.uniprot.org/uniprotkb/Q9UNQ0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ABCG2","url":"https://civicdb.org/features/7451","note":"1 evidence items, 0 assertions, 2 variants; diseases: Ovarian Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ABCG2: RNA tissue enhanced (intestine 83 nTPM); high antibody staining in 8 normal tissues; highest cancer staining testis cancer (4 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ABCG2 tissue","url":"https://www.proteinatlas.org/ENSG00000118777-ABCG2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118777 associations","url":"https://platform.opentargets.org/target/ENSG00000118777/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:74","ensembl":"ENSG00000118777","uniprot":"Q9UNQ0","entrez":"9429","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Allikmets et al, Cancer Res, 1998, \"A human placenta-specific ATP-binding cassette gene (ABCP) on chromosome 4q22 that is involved in multidrug resistance\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9850061/","biology":"Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells. Involved in porphyrin homeostasis, mediating the export of protoporphyrin IX (PPIX) from both mitochondria to cytosol and cytosol to extracellular space, it also functions in the cellular export of heme. Also mediates the efflux of sphingosine-1-P from cells. Acts as a urate exporter functioning in both renal and extrarenal urate excretion. In kidney, it also functions as a physiological exporter of the uremic toxin indoxyl sulfate. Also involved in the excretion of steroids like estrone 3-sulfate/E1S, 3beta-sulfooxy-androst-5-en-17-one/DHEAS, and other sulfate conjugates. Location: Cell membrane; Apical cell membrane; Mitochondrion membrane (UniProt). Locus 4q22.1 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"abi1","kind":"target","name":"ABI1","aka":["abl interactor 1","Abl interactor 1","E3B1","ABI-1","SSH3BP1"],"tldr":"ABI1 (Abl interactor 1) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganisation and EGFR signalling.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11320","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11320"},{"label":"UniProt Q8IZP0","url":"https://www.uniprot.org/uniprotkb/Q8IZP0/entry"},{"label":"NCBI Gene 10006","url":"https://www.ncbi.nlm.nih.gov/gene/10006"},{"label":"Ensembl ENSG00000136754","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136754"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ABI1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11320","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11320","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IZP0","url":"https://www.uniprot.org/uniprotkb/Q8IZP0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136754","url":"https://platform.opentargets.org/target/ENSG00000136754/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: breast cancer 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11320","ensembl":"ENSG00000136754","uniprot":"Q8IZP0","entrez":"10006","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Biesova et al, Oncogene, 1997, \"Isolation and characterization of e3B1, an eps8 binding protein that regulates cell growth\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9010225/","biology":"May act in negative regulation of cell growth and transformation by interacting with nonreceptor tyrosine kinases ABL1 and/or ABL2. May play a role in regulation of EGF-induced Erk pathway activation. Involved in cytoskeletal reorganisation and EGFR signalling. Together with EPS8 participates in transduction of signals from Ras to Rac. In vitro, a trimeric complex of ABI1, EPS8 and SOS1 exhibits Rac specific guanine nucleotide exchange factor (GEF) activity and ABI1 seems to act as an adapter in the complex. Regulates ABL1/c-Abl-mediated phosphorylation of ENAH. Location: Cytoplasm; Nucleus; Cell projection, lamellipodium; Cell projection, filopodium (UniProt). Locus 10p12.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)"],"targetClass":"other","prevalence":[]},{"id":"abl1","kind":"target","name":"ABL1","aka":["c-ABL","ABL","JTK7","ABL proto-oncogene 1, non-receptor tyrosine kinase"],"tldr":"ABL1 is the kinase half of the BCR::ABL1 fusion that causes chronic myeloid leukaemia. The CML drugs bind the ABL1 kinase domain, most in its ATP pocket and asciminib in a separate pocket that locks it shut.","summary":"ABL1 (chromosome 9q34.12) is a non-receptor tyrosine kinase in cytoskeletal remodelling, cell motility and adhesion, receptor endocytosis, autophagy, the DNA damage response and apoptosis; it phosphorylates regulators of actin dynamics such as WASF3, ANXA1, cortactin and ENAH and of adhesion such as BCAR1, CRK, CRKL, DOK1 and NEDD9 (UniProt P00519). The t(9;22) translocation fuses it to BCR, producing the constitutively active kinase of CML and Ph-positive ALL (bcr-abl1-signalling pathway). In OnCo the ABL1 kinase domain is what dasatinib (binding active and inactive conformations, inactive against T315I), ponatinib (a type II inhibitor whose triple bond accommodates the T315I gatekeeper) and asciminib (allosteric, locking ABL1 inactive through the myristoyl pocket, active against T315I at higher dose) bind; the BCR::ABL1 target page carries the fusion and the older inhibitors.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:76","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:76"},{"label":"UniProt P00519","url":"https://www.uniprot.org/uniprotkb/P00519/entry"},{"label":"NCBI Gene 25","url":"https://www.ncbi.nlm.nih.gov/gene/25"}],"tags":["wave5-target"],"related":["bcr-abl"],"cancers":["cml-chronic-phase","cml-advanced-phase","all-leukemia"],"sections":[],"technologies":["kinase-inhibitors"],"targets":[],"drugs":["asciminib","dasatinib","ponatinib"],"companies":[],"institutions":[],"pathways":["bcr-abl1-signalling","cml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"ABL1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 3 medicines aimed at it (Asciminib, Dasatinib, Ponatinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA ABL1: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining carcinoid (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 7 specific cancer types at or above 0.5 (chronic myeloid leukemia, acute lymphoblastic leukemia, gastrointestinal stromal tumor, colorectal cancer, dermatofibrosarcoma protuberans, myelodysplastic/myeloproliferative disease and more); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ABL1 tissue","url":"https://www.proteinatlas.org/ENSG00000097007-ABL1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000097007 associations","url":"https://platform.opentargets.org/target/ENSG00000097007/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:76","ensembl":"ENSG00000097007","uniprot":"P00519","entrez":"25","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Groffen et al, Nature, 1983, \"Homology between phosphotyrosine acceptor site of human c-abl and viral oncogene products\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6191223/","biology":"Asciminib's myristoyl-pocket mechanism is distinct from every ATP-site inhibitor, which is why it was approved for all newly diagnosed chronic-phase CML in 2024 and is being tested in Ph-positive ALL; dasatinib with blinatumomab can bring Ph-positive ALL into deep remission without chemotherapy (corpus drug records).","whereFound":["Chronic myeloid leukaemia (BCR::ABL1)","Philadelphia-positive acute lymphoblastic leukaemia"],"targetClass":"kinase","prevalence":[]},{"id":"abl2","kind":"target","name":"ABL2","aka":["ABL proto-oncogene 2, non-receptor tyrosine kinase","Tyrosine-protein kinase ABL2"],"tldr":"ABL2 (Tyrosine-protein kinase ABL2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Endometrial cancer, Lung cancer and 2 more.","summary":"Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signalling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 3 variants, naming Imatinib and Dasatinib. Open Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.89, animal model 0.26, genetic association 0.33, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Invasive Breast Carcinoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:77","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:77"},{"label":"UniProt P42684","url":"https://www.uniprot.org/uniprotkb/P42684/entry"},{"label":"NCBI Gene 27","url":"https://www.ncbi.nlm.nih.gov/gene/27"},{"label":"Ensembl ENSG00000143322","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143322"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","endometrial","lung-cancer","skin-cancer","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ABL2","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:77","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:77","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42684","url":"https://www.uniprot.org/uniprotkb/P42684/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ABL2","url":"https://civicdb.org/features/101","note":"1 evidence items, 0 assertions, 3 variants; diseases: Lung Adenocarcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000143322","url":"https://platform.opentargets.org/target/ENSG00000143322/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: skin cancer 0.52, breast cancer 0.57, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen ABL2","url":"https://www.intogen.org/search?gene=ABL2","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ABL2: RNA low tissue specificity; no normal tissue stained high; highest cancer staining carcinoid (1 of 3 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Endometrial cancer, Lung cancer (all types), Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P42684","url":"https://www.uniprot.org/uniprotkb/P42684/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ABL2","url":"https://civicdb.org/features/101","note":"1 evidence items, 0 assertions, 3 variants; diseases: Lung Adenocarcinoma (GraphQL API, CC0)"},{"label":"IntOGen ABL2","url":"https://www.intogen.org/search?gene=ABL2","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ABL2 tissue","url":"https://www.proteinatlas.org/ENSG00000143322-ABL2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143322 associations","url":"https://platform.opentargets.org/target/ENSG00000143322/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:77","ensembl":"ENSG00000143322","uniprot":"P42684","entrez":"27","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kruh G.D. et al, Science, 1986, \"A novel human gene closely related to the abl proto-oncogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3787260/","biology":"Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signalling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as CRK, CRKL, DOK1 or ARHGAP35. Adhesion-dependent phosphorylation of ARHGAP35 promotes its association with RASA1, resulting in recruitment of ARHGAP35 to the cell periphery where it inhibits RHO. Phosphorylates multiple receptor tyrosine kinases like PDGFRB and other substrates which are involved in endocytosis regulation such as RIN1. Location: Cytoplasm, cytoskeleton (UniProt). Locus 1q25.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"abo","kind":"target","name":"ABO","aka":["ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase","Histo-blood group ABO system transferase","A3GALNT","A3GALT1"],"tldr":"ABO (Histo-blood group ABO system transferase) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of N-acetyl-alpha-D-galactosamine (GalNAc)) or to the B antigen (by addition of galactose (Gal)), whereas O individuals lack such activity and express the H antigen precursor unmodified.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.85, genetic association 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:79","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:79"},{"label":"UniProt P16442","url":"https://www.uniprot.org/uniprotkb/P16442/entry"},{"label":"NCBI Gene 28","url":"https://www.ncbi.nlm.nih.gov/gene/28"},{"label":"Ensembl ENSG00000175164","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175164"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ABO","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:79","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:79","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16442","url":"https://www.uniprot.org/uniprotkb/P16442/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000175164","url":"https://platform.opentargets.org/target/ENSG00000175164/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:79","ensembl":"ENSG00000175164","uniprot":"P16442","entrez":"28","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamamoto et al, J. Biol. Chem, 1990, \"Cloning and characterization of DNA complementary to human UDP-GalNAc: Fuc alpha 1-->2Gal alpha 1-->3GalNAc transferase (histo-blood group A transferase) mRNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2104828/","biology":"This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of N-acetyl-alpha-D-galactosamine (GalNAc)) or to the B antigen (by addition of galactose (Gal)), whereas O individuals lack such activity and express the H antigen precursor unmodified. Catalyses the transfer of GalNAc or Gal in an alpha1,3 linkage to the terminal Gal of all five types of naturally occurring H antigens, forming the antigenic structures of the A and B blood groups. Location: Golgi apparatus, Golgi stack membrane; Secreted (UniProt). Locus 9q34.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"ackr3","kind":"target","name":"ACKR3","aka":["atypical chemokine receptor 3","Atypical chemokine receptor 3","RDC1","GPR159","CMKOR1","CXCR7"],"tldr":"ACKR3 (Atypical chemokine receptor 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Ovarian cancer, Colorectal cancer, Skin cancer and 1 more.","summary":"Atypical chemokine receptor that controls chemokine levels and localisation via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalising receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CXCL11 and CXCL12/SDF1.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.99, animal model 0.63, genetic association 0.45, somatic mutation 0.96). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Ovarian Epithelial Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23692","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23692"},{"label":"UniProt P25106","url":"https://www.uniprot.org/uniprotkb/P25106/entry"},{"label":"NCBI Gene 57007","url":"https://www.ncbi.nlm.nih.gov/gene/57007"},{"label":"Ensembl ENSG00000144476","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144476"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["ovarian","colorectal","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACKR3","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:23692","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23692","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25106","url":"https://www.uniprot.org/uniprotkb/P25106/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000144476","url":"https://platform.opentargets.org/target/ENSG00000144476/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: colorectal cancer 0.54, melanoma 0.52, skin cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen ACKR3","url":"https://www.intogen.org/search?gene=ACKR3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:23692","ensembl":"ENSG00000144476","uniprot":"P25106","entrez":"57007","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sreedharan S.P. et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Cloning and expression of the human vasoactive intestinal peptide receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1675791/","biology":"Atypical chemokine receptor that controls chemokine levels and localisation via high-affinity chemokine binding that is uncoupled from classic ligand-driven signal transduction cascades, resulting instead in chemokine sequestration, degradation, or transcytosis. Also known as interceptor (internalising receptor) or chemokine-scavenging receptor or chemokine decoy receptor. Acts as a receptor for chemokines CXCL11 and CXCL12/SDF1. Chemokine binding does not activate G protein-mediated signal transduction but instead induces beta-arrestin recruitment, leading to ligand internalisation and activation of MAPK signalling pathway. Required for regulation of CXCR4 protein levels in migrating interneurons, thereby adapting their chemokine responsiveness. In glioma cells, transduces signals via MEK/ERK pathway, mediating resistance to apoptosis. Location: Cell membrane; Early endosome; Recycling endosome (UniProt). Locus 2q37.3 (HGNC).","whereFound":["Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"acoxl","kind":"target","name":"ACOXL","aka":["acyl-CoA oxidase like","Acyl-coenzyme A oxidase-like protein","FLJ11042","ACOX4"],"tldr":"ACOXL (Acyl-coenzyme A oxidase-like protein) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia.","summary":"UniProt has no function text for Q9NUZ1; HGNC names it \"acyl-CoA oxidase like\".\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25621","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25621"},{"label":"UniProt Q9NUZ1","url":"https://www.uniprot.org/uniprotkb/Q9NUZ1/entry"},{"label":"NCBI Gene 55289","url":"https://www.ncbi.nlm.nih.gov/gene/55289"},{"label":"Ensembl ENSG00000153093","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153093"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACOXL","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:25621","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25621","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NUZ1","url":"https://www.uniprot.org/uniprotkb/Q9NUZ1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000153093","url":"https://platform.opentargets.org/target/ENSG00000153093/associations","note":"per-cancer scores at or above 0.5: leukaemia 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:25621","ensembl":"ENSG00000153093","uniprot":"Q9NUZ1","entrez":"55289","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"UniProt has no function text for Q9NUZ1; HGNC names it \"acyl-CoA oxidase like\". Locus 2q13 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)"],"targetClass":"enzyme","prevalence":[]},{"id":"acsl3","kind":"target","name":"ACSL3","aka":["acyl-CoA synthetase long chain family member 3","Fatty acid CoA ligase Acsl3","ACS3","PRO2194","FACL3"],"tldr":"ACSL3 (Fatty acid CoA ligase Acsl3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins). Has mainly an anabolic role in energy metabolism.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.73). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3570","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3570"},{"label":"UniProt O95573","url":"https://www.uniprot.org/uniprotkb/O95573/entry"},{"label":"NCBI Gene 2181","url":"https://www.ncbi.nlm.nih.gov/gene/2181"},{"label":"Ensembl ENSG00000123983","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123983"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACSL3","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3570","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3570","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95573","url":"https://www.uniprot.org/uniprotkb/O95573/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000123983","url":"https://platform.opentargets.org/target/ENSG00000123983/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"},{"label":"IntOGen ACSL3","url":"https://www.intogen.org/search?gene=ACSL3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3570","ensembl":"ENSG00000123983","uniprot":"O95573","entrez":"2181","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Minekura et al, Genomics, 1997, \"Human acyl-coenzyme A synthetase 3 cDNA and localization of its gene (ACS3) to chromosome band 2q34-q35\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9177793/","biology":"Acyl-CoA synthetases (ACSL) activates long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Required for the incorporation of fatty acids into phosphatidylcholine, the major phospholipid located on the surface of VLDL (very low density lipoproteins). Has mainly an anabolic role in energy metabolism. Mediates hepatic lipogenesis. Preferentially uses myristate, laurate, arachidonate and eicosapentaenoate as substrates. Both isoforms exhibit the same level of activity. Location: Mitochondrion outer membrane; Peroxisome membrane; Microsome membrane; Endoplasmic reticulum membrane (UniProt). Locus 2q36.1 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"acsl6","kind":"target","name":"ACSL6","aka":["acyl-CoA synthetase long chain family member 6","Long-chain-fatty-acid--CoA ligase 6","KIAA0837","ACS2","LACS5","LACS2","FACL6"],"tldr":"ACSL6 (Long-chain-fatty-acid--CoA ligase 6) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas and Liposarcoma.","summary":"Catalyses the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilised exclusively for the synthesis of the brain lipid.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Liposarcoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16496","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16496"},{"label":"UniProt Q9UKU0","url":"https://www.uniprot.org/uniprotkb/Q9UKU0/entry"},{"label":"NCBI Gene 23305","url":"https://www.ncbi.nlm.nih.gov/gene/23305"},{"label":"Ensembl ENSG00000164398","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164398"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["sarcoma","liposarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACSL6","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:16496","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16496","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UKU0","url":"https://www.uniprot.org/uniprotkb/Q9UKU0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ACSL6","url":"https://www.intogen.org/search?gene=ACSL6","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:16496","ensembl":"ENSG00000164398","uniprot":"Q9UKU0","entrez":"23305","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10048485/","biology":"Catalyses the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilised exclusively for the synthesis of the brain lipid. Location: Mitochondrion outer membrane; Peroxisome membrane; Microsome membrane; Endoplasmic reticulum membrane (UniProt). Locus 5q31.1 (HGNC).","whereFound":["Sarcomas: IntOGen driver in 1 cohort (LIPO)","Liposarcoma: IntOGen driver in 1 cohort (LIPO)"],"targetClass":"oncogene","prevalence":[]},{"id":"acsm3","kind":"target","name":"ACSM3","aka":["acyl-CoA synthetase medium chain family member 3","Acyl-coenzyme A synthetase ACSM3, mitochondrial"],"tldr":"ACSM3 (Acyl-coenzyme A synthetase ACSM3, mitochondrial) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Glioma & glioblastoma.","summary":"Catalyses the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. Capable of activating medium-chain fatty acids with a preference for isobutyrate among fatty acids with 2-6 carbon atoms.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Glioblastoma Multiforme.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10522","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10522"},{"label":"UniProt Q53FZ2","url":"https://www.uniprot.org/uniprotkb/Q53FZ2/entry"},{"label":"NCBI Gene 6296","url":"https://www.ncbi.nlm.nih.gov/gene/6296"},{"label":"Ensembl ENSG00000005187","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000005187"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACSM3","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10522","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10522","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q53FZ2","url":"https://www.uniprot.org/uniprotkb/Q53FZ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ACSM3","url":"https://www.intogen.org/search?gene=ACSM3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10522","ensembl":"ENSG00000005187","uniprot":"Q53FZ2","entrez":"6296","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Iwai et al, Hypertension, 1994, \"Human SA gene locus as a candidate locus for essential hypertension\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7907320/","biology":"Catalyses the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. Capable of activating medium-chain fatty acids with a preference for isobutyrate among fatty acids with 2-6 carbon atoms. Location: Mitochondrion; Mitochondrion matrix (UniProt). Locus 16p12.3 (HGNC).","whereFound":["Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"oncogene","prevalence":[]},{"id":"acta1","kind":"target","name":"ACTA1","aka":["actin alpha 1, skeletal muscle","Actin, alpha skeletal muscle","NEM3"],"tldr":"ACTA1 (Actin, alpha skeletal muscle) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:129","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129"},{"label":"UniProt P68133","url":"https://www.uniprot.org/uniprotkb/P68133/entry"},{"label":"NCBI Gene 58","url":"https://www.ncbi.nlm.nih.gov/gene/58"},{"label":"Ensembl ENSG00000143632","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143632"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACTA1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:129","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:129","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P68133","url":"https://www.uniprot.org/uniprotkb/P68133/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ACTA1","url":"https://civicdb.org/features/128","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ACTA1: RNA tissue enriched (skeletal muscle 123,974 nTPM); high antibody staining in 9 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ACTA1 tissue","url":"https://www.proteinatlas.org/ENSG00000143632-ACTA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143632 associations","url":"https://platform.opentargets.org/target/ENSG00000143632/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:129","ensembl":"ENSG00000143632","uniprot":"P68133","entrez":"58","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hanauer et al, Nucleic Acids Res, 1983, \"Isolation and characterization of cDNA clones for human skeletal muscle alpha actin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6190133/","biology":"Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Location: Cytoplasm, cytoskeleton (UniProt). Locus 1q42.13 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"acta2","kind":"target","name":"ACTA2","aka":["actin alpha 2, smooth muscle","Actin, aortic smooth muscle","ACTSA"],"tldr":"ACTA2 (Actin, aortic smooth muscle) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia.","summary":"Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:130","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:130"},{"label":"UniProt P62736","url":"https://www.uniprot.org/uniprotkb/P62736/entry"},{"label":"NCBI Gene 59","url":"https://www.ncbi.nlm.nih.gov/gene/59"},{"label":"Ensembl ENSG00000107796","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107796"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACTA2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:130","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:130","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62736","url":"https://www.uniprot.org/uniprotkb/P62736/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107796","url":"https://platform.opentargets.org/target/ENSG00000107796/associations","note":"per-cancer scores at or above 0.5: leukaemia 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:130","ensembl":"ENSG00000107796","uniprot":"P62736","entrez":"59","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ueyama et al, Mol. Cell. Biol, 1984, \"Structure of a human smooth muscle actin gene (aortic type) with a unique intron site\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6330528/","biology":"Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Location: Cytoplasm, cytoskeleton (UniProt). Locus 10q23.31 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.53 with leukaemia (MONDO_0005059)"],"targetClass":"enzyme","prevalence":[]},{"id":"actb","kind":"target","name":"ACTB","aka":["actin beta","Actin, cytoplasmic 1"],"tldr":"ACTB (Actin, cytoplasmic 1) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Actin is a highly conserved protein that polymerises to produce filaments that form cross-linked networks in the cytoplasm of cells. Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction. In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localise in the nucleus, and regulate gene transcription and motility and repair of damaged DNA.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.92, affected pathway 0.97, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:132","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:132"},{"label":"UniProt P60709","url":"https://www.uniprot.org/uniprotkb/P60709/entry"},{"label":"NCBI Gene 60","url":"https://www.ncbi.nlm.nih.gov/gene/60"},{"label":"Ensembl ENSG00000075624","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000075624"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACTB","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:132","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:132","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P60709","url":"https://www.uniprot.org/uniprotkb/P60709/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ACTB","url":"https://civicdb.org/features/130","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000075624","url":"https://platform.opentargets.org/target/ENSG00000075624/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists ACTB among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ACTB: RNA low tissue specificity; high antibody staining in 15 normal tissues; highest cancer staining colorectal cancer (7 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (Becker nevus syndrome). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ACTB tissue","url":"https://www.proteinatlas.org/ENSG00000075624-ACTB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000075624 associations","url":"https://platform.opentargets.org/target/ENSG00000075624/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:132","ensembl":"ENSG00000075624","uniprot":"P60709","entrez":"60","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hanukoglu et al, J. Mol. Biol, 1983, \"Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6842590/","biology":"Actin is a highly conserved protein that polymerises to produce filaments that form cross-linked networks in the cytoplasm of cells. Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction. In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localise in the nucleus, and regulate gene transcription and motility and repair of damaged DNA. Plays a role in the assembly of the gamma-tubulin ring complex (gTuRC), which regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments. Part of the ACTR1A/ACTB filament around which the dynactin complex is built. The dynactin multiprotein complex activates the molecular motor dynein for ultra-processive transport along microtubules. Location: Cytoplasm, cytoskeleton; Nucleus (UniProt). Locus 7p22.1 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"actg1","kind":"target","name":"ACTG1","aka":["actin gamma 1","Actin, cytoplasmic 2","DFNA20","DFNA26"],"tldr":"ACTG1 (Actin, cytoplasmic 2) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. May play a role in the repair of noise-induced stereocilia gaps thereby maintains hearing sensitivity following loud noise damage.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.97, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:144","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:144"},{"label":"UniProt P63261","url":"https://www.uniprot.org/uniprotkb/P63261/entry"},{"label":"NCBI Gene 71","url":"https://www.ncbi.nlm.nih.gov/gene/71"},{"label":"Ensembl ENSG00000184009","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184009"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACTG1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:144","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:144","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P63261","url":"https://www.uniprot.org/uniprotkb/P63261/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184009","url":"https://platform.opentargets.org/target/ENSG00000184009/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:144","ensembl":"ENSG00000184009","uniprot":"P63261","entrez":"71","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Erba H.P. et al, Nucleic Acids Res, 1986, \"Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3737401/","biology":"Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. May play a role in the repair of noise-induced stereocilia gaps thereby maintains hearing sensitivity following loud noise damage. Location: Cytoplasm, cytoskeleton (UniProt). Locus 17q25.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"actl6a","kind":"target","name":"ACTL6A","aka":["actin like 6A","Actin-like protein 6A","Actl6","BAF53A","Arp4","Baf53a","INO80K","SMARCN1"],"tldr":"ACTL6A (Actin-like protein 6A) is a protein that switches other genes on and off. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer and Non-small-cell lung cancer.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Cisplatin and Panobinostat.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24124","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24124"},{"label":"UniProt O96019","url":"https://www.uniprot.org/uniprotkb/O96019/entry"},{"label":"NCBI Gene 86","url":"https://www.ncbi.nlm.nih.gov/gene/86"},{"label":"Ensembl ENSG00000136518","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136518"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACTL6A","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:24124","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24124","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O96019","url":"https://www.uniprot.org/uniprotkb/O96019/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ACTL6A","url":"https://civicdb.org/features/150","note":"3 evidence items, 0 assertions, 1 variants; diseases: Lung Adenocarcinoma, Ovarian Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists ACTL6A among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ACTL6A: RNA low tissue specificity; high antibody staining in 43 normal tissues; highest cancer staining lymphoma (10 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ACTL6A tissue","url":"https://www.proteinatlas.org/ENSG00000136518-ACTL6A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136518 associations","url":"https://platform.opentargets.org/target/ENSG00000136518/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:24124","ensembl":"ENSG00000136518","uniprot":"O96019","entrez":"86","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhao et al, Cell, 1998, \"Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9845365/","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Required for maximal ATPase activity of SMARCA4/BRG1/BAF190A and for association of the SMARCA4/BRG1/BAF190A containing remodeling complex BAF with chromatin/nuclear matrix. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and is required for the proliferation of neural progenitors. During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. Location: Nucleus (UniProt). Locus 3q26.33 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"acvr1","kind":"target","name":"ACVR1 (ALK2)","aka":["ALK2"],"tldr":"ACVR1 (ALK2) is the receptor that raises hepcidin, the hormone that hides iron from the bone marrow. Momelotinib and pacritinib block it as well as JAK2, which is why they improve, rather than worsen, the low red-cell counts of myelofibrosis.","summary":"ACVR1 (chromosome 2q24.1) encodes ALK2, a bone morphogenetic protein type I receptor that forms heterotetrameric complexes with the type II receptors AMHR2, ACVR2A or ACVR2B; on binding of ligands such as BMP7 or BMP9 the type II receptors transphosphorylate it, and its kinase domain then phosphorylates SMAD1, SMAD5 and SMAD8; it acts across bone, heart, cartilage, nervous and reproductive development and also suppresses TGF-beta/activin signalling by competing for the type II receptor (UniProt Q04771). In OnCo, ACVR1 is the receptor that drives hepcidin production and that momelotinib and pacritinib inhibit in addition to JAK2, lowering hepcidin, freeing iron for red-cell production and improving the anaemia of myelofibrosis.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:171","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:171"},{"label":"UniProt Q04771","url":"https://www.uniprot.org/uniprotkb/Q04771/entry"},{"label":"NCBI Gene 90","url":"https://www.ncbi.nlm.nih.gov/gene/90"}],"tags":["wave5-target"],"related":["jak2"],"cancers":["myeloproliferative-neoplasms","primary-myelofibrosis"],"sections":[],"technologies":["kinase-inhibitors"],"targets":[],"drugs":["momelotinib","pacritinib"],"companies":[],"institutions":[],"pathways":["tgf-beta","jak-stat"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"ACVR1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Momelotinib, Pacritinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA ACVR1: RNA low tissue specificity; high antibody staining in 2 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms); Open Targets associates it with 2 specific cancer types at or above 0.5 (myelofibrosis, primary myelofibrosis); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ACVR1 tissue","url":"https://www.proteinatlas.org/ENSG00000115170-ACVR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115170 associations","url":"https://platform.opentargets.org/target/ENSG00000115170/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:171","ensembl":"ENSG00000115170","uniprot":"Q04771","entrez":"90","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Matsuzaki et al, J. Biol. Chem, 1993, \"A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8389764/","biology":"In myelofibrosis the target is ACVR1 in the hepcidin pathway rather than in the malignant clone: the pacritinib record notes that sparing JAK1 while blocking JAK2, FLT3, IRAK1 and ACVR1 lets it be used with very low platelet counts, and the momelotinib record credits ACVR1 inhibition for its effect on anaemia.","whereFound":["Hepcidin regulation (anaemia of myelofibrosis)","Bone morphogenetic protein signalling in normal development"],"targetClass":"kinase","prevalence":[]},{"id":"acvr1b","kind":"target","name":"ACVR1B","aka":["activin A receptor type 1B","Activin receptor type-1B","ALK4","SKR2","ActRIB","ACVRLK4"],"tldr":"ACVR1B (Activin receptor type-1B) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma, Colorectal cancer, Breast cancer and 4 more.","summary":"Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary.\n\nOpen Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.89, genetic association 0.47, somatic mutation 0.90). IntOGen calls it a driver in 8 cohorts (0 activating, 8 loss-of-function), covering Invasive Breast Carcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Lung Adenocarcinoma, Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:172","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:172"},{"label":"UniProt P36896","url":"https://www.uniprot.org/uniprotkb/P36896/entry"},{"label":"NCBI Gene 91","url":"https://www.ncbi.nlm.nih.gov/gene/91"},{"label":"Ensembl ENSG00000135503","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135503"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["pancreatic","colorectal","breast-cancer","skin-cancer","lung-cancer","nsclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 8 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACVR1B","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:172","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:172","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P36896","url":"https://www.uniprot.org/uniprotkb/P36896/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135503","url":"https://platform.opentargets.org/target/ENSG00000135503/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.55, melanoma 0.53, skin cancer 0.53, breast cancer 0.54, lung cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen ACVR1B","url":"https://www.intogen.org/search?gene=ACVR1B","note":"driver in 8 cohorts (Act 0, LoF 8); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:172","ensembl":"ENSG00000135503","uniprot":"P36896","entrez":"91","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: ten Dijke et al, Oncogene, 1993, \"Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8397373/","biology":"Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Location: Cell membrane (UniProt). Locus 12q13.13 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 4 cohorts (PAAD)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575); IntOGen driver in 2 cohorts (COAD, COADREAD)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"kinase","prevalence":[]},{"id":"acvr2a","kind":"target","name":"ACVR2A","aka":["activin A receptor type 2A","Activin receptor type-2A","ACTRII","ACVR2"],"tldr":"ACVR2A (Activin receptor type-2A) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Hepatocellular carcinoma, Pancreatic ductal adenocarcinoma and 4 more.","summary":"On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.92, animal model 0.27, genetic association 0.41, somatic mutation 0.94). IntOGen calls it a driver in 13 cohorts (1 activating, 12 loss-of-function), covering Colorectal Adenocarcinoma, Cutaneous Squamous Cell Carcinoma, Hepatocellular Carcinoma, Pancreatic Adenocarcinoma, Prostate Adenocarcinoma, Stomach Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:173","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:173"},{"label":"UniProt P27037","url":"https://www.uniprot.org/uniprotkb/P27037/entry"},{"label":"NCBI Gene 92","url":"https://www.ncbi.nlm.nih.gov/gene/92"},{"label":"Ensembl ENSG00000121989","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121989"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","hcc","pancreatic","gastric","prostate","endometrial","cutaneous-scc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["tgf-beta","mismatch-repair-msi"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 12 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: like TGFBR2, a coding-microsatellite frameshift target of mismatch repair failure, mutated in 19 of 28 MSI-high against 6 of 196 microsatellite-stable samples in the TCGA 2012 deposit. It is absent from MSK-IMPACT, so the large panel cohorts report zero; that is a panel design fact, not a biological one."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ACVR2A","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:173","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:173","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P27037","url":"https://www.uniprot.org/uniprotkb/P27037/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000121989","url":"https://platform.opentargets.org/target/ENSG00000121989/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.64, gastric cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen ACVR2A","url":"https://www.intogen.org/search?gene=ACVR2A","note":"driver in 13 cohorts (Act 1, LoF 12); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:173","ensembl":"ENSG00000121989","uniprot":"P27037","entrez":"92","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Geiser A.G., 1991.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P27037/entry","biology":"On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin A, activin B and inhibin A. Mediates induction of adipogenesis by GDF6. Location: Cell membrane (UniProt). Locus 2q22.3-q23.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.64 with colorectal cancer (MONDO_0005575); IntOGen driver in 3 cohorts (COADREAD)","Hepatocellular carcinoma: IntOGen driver in 3 cohorts (HCC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 3 cohorts (PAAD)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.56 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)"],"targetClass":"kinase","prevalence":[]},{"id":"adam29","kind":"target","name":"ADAM29","aka":["ADAM metallopeptidase domain 29","Disintegrin and metalloproteinase domain-containing protein 29","svph1","CT73"],"tldr":"ADAM29 (Disintegrin and metalloproteinase domain-containing protein 29) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"May be involved in spermatogenesis and fertilisation. Seems to be a non catalytic metalloprotease-like protein.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.80, genetic association 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:207","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:207"},{"label":"UniProt Q9UKF5","url":"https://www.uniprot.org/uniprotkb/Q9UKF5/entry"},{"label":"NCBI Gene 11086","url":"https://www.ncbi.nlm.nih.gov/gene/11086"},{"label":"Ensembl ENSG00000168594","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168594"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADAM29","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:207","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:207","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UKF5","url":"https://www.uniprot.org/uniprotkb/Q9UKF5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000168594","url":"https://platform.opentargets.org/target/ENSG00000168594/associations","note":"association with cancer (MONDO_0004992) 0.52; per-cancer scores at or above 0.5: breast cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:207","ensembl":"ENSG00000168594","uniprot":"Q9UKF5","entrez":"11086","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cerretti D.P. et al, Biochem. Biophys. Res. Commun, 1999, \"Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs that show testis-specific gene expression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10512762/","biology":"May be involved in spermatogenesis and fertilisation. Seems to be a non catalytic metalloprotease-like protein. Location: Membrane (UniProt). Locus 4q34.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"other","prevalence":[]},{"id":"adamts9","kind":"target","name":"ADAMTS9","aka":["ADAM metallopeptidase with thrombospondin type 1 motif 9","A disintegrin and metalloproteinase with thrombospondin motifs 9","KIAA1312"],"tldr":"ADAMTS9 (A disintegrin and metalloproteinase with thrombospondin motifs 9) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.","summary":"Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428-Glu-|-Ala-1429' site). In addition, catalyses the shedding of the endopeptidase MMP14 (at the '314-Tyr-|-Gly-315' site), releasing the catalytic domain from the cell surface thereby preventing the downstream pro-MMP2 activation. Is involved in extracellular matrix proteolysis and in ciliary vesicle growth during ciliogenesis in metalloendopeptidase activity dependent manner.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.63, somatic mutation 0.33). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13202","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13202"},{"label":"UniProt Q9P2N4","url":"https://www.uniprot.org/uniprotkb/Q9P2N4/entry"},{"label":"NCBI Gene 56999","url":"https://www.ncbi.nlm.nih.gov/gene/56999"},{"label":"Ensembl ENSG00000163638","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163638"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADAMTS9","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:13202","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13202","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9P2N4","url":"https://www.uniprot.org/uniprotkb/Q9P2N4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163638","url":"https://platform.opentargets.org/target/ENSG00000163638/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"},{"label":"IntOGen ADAMTS9","url":"https://www.intogen.org/search?gene=ADAMTS9","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:13202","ensembl":"ENSG00000163638","uniprot":"Q9P2N4","entrez":"56999","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Clark M.E. et al, Genomics, 2000, \"ADAMTS 9, a novel member of the ADAM-TS/Metallospondin gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10936055/","biology":"Cleaves the large aggregating proteoglycans, aggrecan (at the '1838-Glu-|-Ala-1839' site) and versican (at the '1428-Glu-|-Ala-1429' site). In addition, catalyses the shedding of the endopeptidase MMP14 (at the '314-Tyr-|-Gly-315' site), releasing the catalytic domain from the cell surface thereby preventing the downstream pro-MMP2 activation. Is involved in extracellular matrix proteolysis and in ciliary vesicle growth during ciliogenesis in metalloendopeptidase activity dependent manner. Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos. Location: Secreted, extracellular space, extracellular matrix; Endoplasmic reticulum; Cell projection, cilium; Recycling endosome (UniProt). Locus 3p14.1 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"adora2a","kind":"target","name":"Adenosine A2A receptor (ADORA2A)","aka":["A2AR","A2A receptor","adenosine A2a receptor","RDC8"],"tldr":"The A2A receptor is where adenosine lands on a T cell and tells it to rest. Oral antagonists, cousins of caffeine, are in phase 2 combinations with PD-1 blockade and chemotherapy.","summary":"ADORA2A (chromosome 22q11.23) encodes a G-protein-coupled adenosine receptor whose activity is mediated by G proteins that activate adenylyl cyclase (UniProt P29274). Ectonucleotidases and adenosine receptors are broadly expressed and have emerged as immuno-oncology targets, with early-phase trials showing promising results (Allard et al. 2019, Immunol Rev). Ciforadenant is in phase 1b/2 with ipilimumab and nivolumab (NCT05501054), etrumadenant (A2A/A2B) in phase 2 combinations in pancreatic cancer (NCT06048484), and inupadenant in phase 2 with chemotherapy in non-squamous non-small-cell lung cancer (NCT05403385).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:263","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:263"},{"label":"UniProt P29274","url":"https://www.uniprot.org/uniprotkb/P29274/entry"},{"label":"NCBI Gene 135","url":"https://www.ncbi.nlm.nih.gov/gene/135"},{"label":"Allard et al. 2019, Immunol Rev (Europe PMC)","url":"https://europepmc.org/article/MED/29758241"}],"tags":["checkpoint-map"],"related":["cd73-adenosine","entpd1"],"cancers":["pancreatic","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"ADORA2A","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:263","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:263","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P29274","url":"https://www.uniprot.org/uniprotkb/P29274/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:263","ensembl":"ENSG00000128271","uniprot":"P29274","entrez":"135","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tiffany H.L. et al, 1992.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P29274/entry","biology":"The receptor end of the CD39-CD73-adenosine axis; antagonists are small molecules.","whereFound":["Broadly expressed, per Allard et al. 2019; UniProt records no human tissue distribution","Pancreatic and non-small-cell lung cancer trials of antagonists"],"targetClass":"surface-antigen","prevalence":[]},{"id":"ada","kind":"target","name":"Adenosine deaminase (ADA)","aka":[],"tldr":"Adenosine deaminase is an enzyme that breaks down adenosine and deoxyadenosine; blocking it with pentostatin poisons lymphocytes, which is why the drug works in hairy cell leukaemia and some T-cell cancers.","summary":"Adenosine deaminase (ADA) converts adenosine to inosine and deoxyadenosine to deoxyinosine in the purine salvage pathway. Lymphocytes depend on it: children born without ADA have severe combined immunodeficiency because deoxyadenosine metabolites accumulate and kill developing lymphocytes. Pentostatin (deoxycoformycin) is a tight-binding ADA inhibitor that reproduces this toxicity on purpose in lymphoid cancers, producing durable remissions in hairy cell leukaemia; it is also used in T-cell leukaemias and lymphomas and in graft-versus-host disease.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Adenosine_deaminase","links":[{"label":"UniProt P00813: ADA","url":"https://www.uniprot.org/uniprotkb/P00813/entry"},{"label":"HGNC:186 ADA","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:186"}],"tags":[],"related":[],"cancers":["hairy-cell-leukemia","cll"],"sections":[],"technologies":[],"targets":[],"drugs":["pentostatin"],"companies":[],"institutions":[],"pathways":[],"terms":["apoptosis"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"ADA","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal dendritic cells and monocytes and NK-cells: HPA finds the gene group enriched in that blood lineage, and the 1 medicine aimed at it (Pentostatin) act on the wild-type protein, so the normal lineage is hit too. HPA ADA: RNA group enriched (intestine 454 nTPM, lymphoid tissue 228 nTPM); blood lineage group enriched (dendritic cells 211 nTPM, monocytes 351 nTPM, NK-cells 90 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ADA tissue","url":"https://www.proteinatlas.org/ENSG00000196839-ADA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas ADA pathology","url":"https://www.proteinatlas.org/ENSG00000196839-ADA/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000196839 associations","url":"https://platform.opentargets.org/target/ENSG00000196839/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:186","ensembl":"ENSG00000196839","uniprot":"P00813","entrez":"100","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Orkin S.H. et al, J. Biol. Chem, 1983, \"Molecular cloning of human adenosine deaminase gene sequences\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6688808/","biology":"ADA is a zinc-dependent hydrolase expressed in most tissues and at high levels in lymphoid cells. Inhibiting it raises intracellular deoxyadenosine triphosphate, which blocks ribonucleotide reductase and DNA synthesis and triggers apoptosis, an effect most marked in lymphocytes with high deoxynucleoside kinase activity. Pentostatin binds the enzyme almost irreversibly; cladribine, the other purine analogue used in hairy cell leukaemia, is instead a substrate-resistant deoxyadenosine analogue.","whereFound":["Lymphocytes and lymphoid tissue (high)","Widely expressed in other tissues at lower levels","Also present in plasma as extracellular ADA"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (purine breakdown, highest in lymphocytes); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"adh1b","kind":"target","name":"ADH1B","aka":["alcohol dehydrogenase 1B (class I), beta polypeptide","All-trans-retinol dehydrogenase [NAD(+)] ADH1B","ADH2"],"tldr":"ADH1B (All-trans-retinol dehydrogenase [NAD(+)] ADH1B) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Oesophageal cancer.","summary":"Catalyses the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate in retinoid metabolism. In vitro can also catalyse the NADH-dependent reduction of all-trans-retinal and its derivatives such as all-trans-4-oxoretinal. Catalyses in the oxidative direction with higher efficiency.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.74).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:250"},{"label":"UniProt P00325","url":"https://www.uniprot.org/uniprotkb/P00325/entry"},{"label":"NCBI Gene 125","url":"https://www.ncbi.nlm.nih.gov/gene/125"},{"label":"Ensembl ENSG00000196616","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196616"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["esophageal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADH1B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:250","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P00325","url":"https://www.uniprot.org/uniprotkb/P00325/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196616","url":"https://platform.opentargets.org/target/ENSG00000196616/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: oesophageal cancer 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:250","ensembl":"ENSG00000196616","uniprot":"P00325","entrez":"125","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hempel et al, Eur. J. Biochem, 1984, \"Human liver alcohol dehydrogenase. 1. The primary structure of the beta 1 beta 1 isoenzyme\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6391920/","biology":"Catalyses the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate in retinoid metabolism. In vitro can also catalyse the NADH-dependent reduction of all-trans-retinal and its derivatives such as all-trans-4-oxoretinal. Catalyses in the oxidative direction with higher efficiency. Has the same affinity for all-trans-4-hydroxyretinol and all-trans-4-oxoretinal. Location: Cytoplasm (UniProt). Locus 4q23 (HGNC).","whereFound":["Oesophageal cancer: Open Targets association 0.56 with oesophageal cancer (MONDO_0007576)"],"targetClass":"enzyme","prevalence":[]},{"id":"adra1a","kind":"target","name":"ADRA1A","aka":["adrenoceptor alpha 1A","Alpha-1A adrenergic receptor","ADRA1L1","ADRA1C"],"tldr":"ADRA1A (Alpha-1A adrenergic receptor) is a receptor that reads hormone signals inside the cell nucleus. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours and Prostate cancer.","summary":"Alpha-1 adrenergic receptors are G protein-coupled receptors for catecholamines that signal through the G(q) family of G proteins, including G(q) and G(11). Upon activation, they stimulate the phosphatidylinositol-calcium second messenger pathway, leading to calcium release from intracellular stores and activation of protein kinase C. ADRA1A binds the catecholamine ligands norepinephrine and epinephrine.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.40, genetic association 0.29, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:277","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:277"},{"label":"UniProt P35348","url":"https://www.uniprot.org/uniprotkb/P35348/entry"},{"label":"NCBI Gene 148","url":"https://www.ncbi.nlm.nih.gov/gene/148"},{"label":"Ensembl ENSG00000120907","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000120907"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADRA1A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:277","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:277","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35348","url":"https://www.uniprot.org/uniprotkb/P35348/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000120907","url":"https://platform.opentargets.org/target/ENSG00000120907/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: prostate cancer 0.50, neuroendocrine neoplasm 0.51 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ADRA1A: RNA tissue enhanced (adipose tissue 21 nTPM, liver 56 nTPM); high antibody staining in 1 normal tissue. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours, Prostate cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (benign prostatic hyperplasia, adrenal gland pheochromocytoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ADRA1A tissue","url":"https://www.proteinatlas.org/ENSG00000120907-ADRA1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000120907 associations","url":"https://platform.opentargets.org/target/ENSG00000120907/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:277","ensembl":"ENSG00000120907","uniprot":"P35348","entrez":"148","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hirasawa et al, Biochem. Biophys. Res. Commun, 1993, \"Cloning, functional expression and tissue distribution of human cDNA for the alpha 1C-adrenergic receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8396931/","biology":"Alpha-1 adrenergic receptors are G protein-coupled receptors for catecholamines that signal through the G(q) family of G proteins, including G(q) and G(11). Upon activation, they stimulate the phosphatidylinositol-calcium second messenger pathway, leading to calcium release from intracellular stores and activation of protein kinase C. ADRA1A binds the catecholamine ligands norepinephrine and epinephrine. Can also couple to G(14) protein. Nuclear ADRA1A forms heterooligomers with ADRA1B to regulate phenylephrine(PE)-stimulated ERK signalling in cardiac myocytes. At the plasma membrane, ADRA1A interacts with CAVIN4/MURC to regulates ERK activation in cardiomyocytes, contributing to the regulation of cardiac hypertrophy. Location: Nucleus membrane; Cell membrane; Cytoplasm; Membrane, caveola (UniProt). Locus 8p21.2 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.51 with neuroendocrine neoplasm (MONDO_0019496)","Prostate cancer: Open Targets association 0.50 with prostate cancer (MONDO_0008315)"],"targetClass":"nuclear-receptor","prevalence":[]},{"id":"adra1b","kind":"target","name":"ADRA1B","aka":["adrenoceptor alpha 1B","Alpha-1B adrenergic receptor"],"tldr":"ADRA1B (Alpha-1B adrenergic receptor) is a receptor that reads hormone signals inside the cell nucleus. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours.","summary":"Alpha-1 adrenergic receptors are G protein-coupled receptors for catecholamines that signal through the G(q) family of G proteins, including G(q) and G(11). Upon activation, they stimulate the phosphatidylinositol-calcium second messenger pathway, leading to calcium release from intracellular stores and activation of protein kinase C. ADRA1B binds the catecholamine ligands norepinephrine and epinephrine.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.74, animal model 0.52, genetic association 0.05, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:278","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:278"},{"label":"UniProt P35368","url":"https://www.uniprot.org/uniprotkb/P35368/entry"},{"label":"NCBI Gene 147","url":"https://www.ncbi.nlm.nih.gov/gene/147"},{"label":"Ensembl ENSG00000170214","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170214"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADRA1B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:278","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:278","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35368","url":"https://www.uniprot.org/uniprotkb/P35368/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000170214","url":"https://platform.opentargets.org/target/ENSG00000170214/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.52 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ADRA1B: RNA tissue enhanced (blood vessel 17 nTPM, liver 11 nTPM, lymphoid tissue 11 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); Open Targets associates it with 2 specific cancer types at or above 0.5 (benign prostatic hyperplasia, adrenal gland pheochromocytoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ADRA1B tissue","url":"https://www.proteinatlas.org/ENSG00000170214-ADRA1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000170214 associations","url":"https://platform.opentargets.org/target/ENSG00000170214/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:278","ensembl":"ENSG00000170214","uniprot":"P35368","entrez":"147","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ramarao C.S. et al, J. Biol. Chem, 1992, \"Genomic organization and expression of the human alpha 1B-adrenergic receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1328250/","biology":"Alpha-1 adrenergic receptors are G protein-coupled receptors for catecholamines that signal through the G(q) family of G proteins, including G(q) and G(11). Upon activation, they stimulate the phosphatidylinositol-calcium second messenger pathway, leading to calcium release from intracellular stores and activation of protein kinase C. ADRA1B binds the catecholamine ligands norepinephrine and epinephrine. Can also couple to G(14) and G(16) proteins. Nuclear ADRA1B forms heterooligomers with ADRA1A to regulate phenylephrine(PE)-stimulated ERK signalling in cardiac myocytes. At the plasma membrane, ADRA1B interacts with CAVIN4/MURC to regulates ERK activation in cardiomyocytes, contributing to the regulation of cardiac hypertrophy. Location: Nucleus membrane; Cell membrane; Cytoplasm; Membrane, caveola (UniProt). Locus 5q33.3 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.52 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"nuclear-receptor","prevalence":[]},{"id":"adra1d","kind":"target","name":"ADRA1D","aka":["adrenoceptor alpha 1D","Alpha-1D adrenergic receptor","ADRA1R","ADRA1A","ADRA1"],"tldr":"ADRA1D (Alpha-1D adrenergic receptor) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours.","summary":"Alpha-1 adrenergic receptors are G protein-coupled receptors for catecholamines that signal through the G(q) family of G proteins, including G(q) and G(11). Upon activation, they stimulate the phosphatidylinositol-calcium second messenger pathway, leading to calcium release from intracellular stores and activation of protein kinase C. ADRA1D binds the catecholamine ligands norepinephrine and epinephrine.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.29, animal model 0.26, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:280","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:280"},{"label":"UniProt P25100","url":"https://www.uniprot.org/uniprotkb/P25100/entry"},{"label":"NCBI Gene 146","url":"https://www.ncbi.nlm.nih.gov/gene/146"},{"label":"Ensembl ENSG00000171873","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171873"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADRA1D","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:280","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:280","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25100","url":"https://www.uniprot.org/uniprotkb/P25100/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171873","url":"https://platform.opentargets.org/target/ENSG00000171873/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.51 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ADRA1D: RNA tissue enhanced (blood vessel 7 nTPM, brain 6 nTPM, cervix 6 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); Open Targets associates it with 2 specific cancer types at or above 0.5 (benign prostatic hyperplasia, adrenal gland pheochromocytoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ADRA1D tissue","url":"https://www.proteinatlas.org/ENSG00000171873-ADRA1D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171873 associations","url":"https://platform.opentargets.org/target/ENSG00000171873/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:280","ensembl":"ENSG00000171873","uniprot":"P25100","entrez":"146","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bruno J.F. et al, Biochem. Biophys. Res. Commun, 1991, \"Molecular cloning and sequencing of a cDNA encoding a human alpha 1A adrenergic receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1656955/","biology":"Alpha-1 adrenergic receptors are G protein-coupled receptors for catecholamines that signal through the G(q) family of G proteins, including G(q) and G(11). Upon activation, they stimulate the phosphatidylinositol-calcium second messenger pathway, leading to calcium release from intracellular stores and activation of protein kinase C. ADRA1D binds the catecholamine ligands norepinephrine and epinephrine. Location: Cell membrane (UniProt). Locus 20p13 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.51 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"other","prevalence":[]},{"id":"adra2a","kind":"target","name":"ADRA2A","aka":["adrenoceptor alpha 2A","Alpha-2A adrenergic receptor","ADRAR","ADRA2","ADRA2R"],"tldr":"ADRA2A (Alpha-2A adrenergic receptor) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours.","summary":"Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate the G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression. Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release. ADRA2A and ADRA2C mediates the presynaptic feedback inhibition of neurotransmitter release from noradrenergic nerve terminals in sympathetic and central nervous systems.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.89, clinical 0.81).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:281","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:281"},{"label":"UniProt P08913","url":"https://www.uniprot.org/uniprotkb/P08913/entry"},{"label":"NCBI Gene 150","url":"https://www.ncbi.nlm.nih.gov/gene/150"},{"label":"Ensembl ENSG00000150594","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000150594"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.81. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADRA2A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:281","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:281","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08913","url":"https://www.uniprot.org/uniprotkb/P08913/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000150594","url":"https://platform.opentargets.org/target/ENSG00000150594/associations","note":"association with cancer (MONDO_0004992) 0.52; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.51 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ADRA2A: RNA tissue enhanced (adipose tissue 47 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ADRA2A tissue","url":"https://www.proteinatlas.org/ENSG00000150594-ADRA2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000150594 associations","url":"https://platform.opentargets.org/target/ENSG00000150594/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:281","ensembl":"ENSG00000150594","uniprot":"P08913","entrez":"150","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kobilka B.K. et al, Science, 1987, \"Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2823383/","biology":"Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate the G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression. Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release. ADRA2A and ADRA2C mediates the presynaptic feedback inhibition of neurotransmitter release from noradrenergic nerve terminals in sympathetic and central nervous systems. ADRA2A inhibits transmitter release at high stimulation frequencies, whereas ADRA2C modulates neurotransmission at lower levels of nerve activity. The rank order of potency for agonists of ADRA2A is oxymetazoline > clonidine > epinephrine > norepinephrine > phenylephrine > dopamine > p-synephrine > p-tyramine > serotonin = p-octopamine. For antagonists, the rank order is yohimbine > phentolamine = mianserine > chlorpromazine = spiperone = prazosin > propanolol > alprenolol = pindolol. Location: Cell membrane (UniProt). Locus 10q25.2 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.51 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"other","prevalence":[]},{"id":"adra2b","kind":"target","name":"ADRA2B","aka":["adrenoceptor alpha 2B","Alpha-2B adrenergic receptor","ADRARL1","ADRA2L1","ADRA2RL1"],"tldr":"ADRA2B (Alpha-2B adrenergic receptor) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression. Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release. The rank order of potency for agonists of ADRA2B is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.11, animal model 0.43, clinical 0.81).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:282","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:282"},{"label":"UniProt P18089","url":"https://www.uniprot.org/uniprotkb/P18089/entry"},{"label":"NCBI Gene 151","url":"https://www.ncbi.nlm.nih.gov/gene/151"},{"label":"Ensembl ENSG00000274286","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000274286"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.81. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADRA2B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:282","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:282","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P18089","url":"https://www.uniprot.org/uniprotkb/P18089/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000274286","url":"https://platform.opentargets.org/target/ENSG00000274286/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ADRA2B: RNA low tissue specificity; high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ADRA2B tissue","url":"https://www.proteinatlas.org/ENSG00000274286-ADRA2B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000274286 associations","url":"https://platform.opentargets.org/target/ENSG00000274286/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:282","ensembl":"ENSG00000274286","uniprot":"P18089","entrez":"151","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lomasney J.W. et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Expansion of the alpha 2-adrenergic receptor family: cloning and characterization of a human alpha 2-adrenergic receptor subtype, the gene for which is located on chromosome 2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2164221/","biology":"Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression. Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release. The rank order of potency for agonists of ADRA2B is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol. Location: Cell membrane (UniProt). Locus 2q11.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"adra2c","kind":"target","name":"ADRA2C","aka":["adrenoceptor alpha 2C","Alpha-2C adrenergic receptor","ADRARL2","ADRA2L2","ADRA2RL2"],"tldr":"ADRA2C (Alpha-2C adrenergic receptor) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate the G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression. Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release. ADRA2A and ADRA2C mediates the presynaptic feedback inhibition of neurotransmitter release from noradrenergic nerve terminals in sympathetic and central nervous systems.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.40, clinical 0.81).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:283","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:283"},{"label":"UniProt P18825","url":"https://www.uniprot.org/uniprotkb/P18825/entry"},{"label":"NCBI Gene 152","url":"https://www.ncbi.nlm.nih.gov/gene/152"},{"label":"Ensembl ENSG00000184160","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184160"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.81. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADRA2C","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:283","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:283","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P18825","url":"https://www.uniprot.org/uniprotkb/P18825/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184160","url":"https://platform.opentargets.org/target/ENSG00000184160/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ADRA2C: RNA tissue enhanced (blood vessel 102 nTPM, cervix 61 nTPM, endometrium 1 54 nTPM); no normal tissue stained high; highest cancer staining cervical cancer (1 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ADRA2C tissue","url":"https://www.proteinatlas.org/ENSG00000184160-ADRA2C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184160 associations","url":"https://platform.opentargets.org/target/ENSG00000184160/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:283","ensembl":"ENSG00000184160","uniprot":"P18825","entrez":"152","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Regan J.W. et al, Proc. Natl. Acad. Sci. U.S.A, 1988, \"Cloning and expression of a human kidney cDNA for an alpha 2-adrenergic receptor subtype\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2842764/","biology":"Alpha-2 adrenergic receptors are G protein-coupled receptors for catecholamines that activate the G(i/o) protein pathway, thereby promoting adenylyl cyclase inhibition, ERK1/2 stimulation, and voltage-gated calcium channels suppression. Control a variety of physiological processes, such as regulation of blood pressure, lipolysis and insulin release. ADRA2A and ADRA2C mediates the presynaptic feedback inhibition of neurotransmitter release from noradrenergic nerve terminals in sympathetic and central nervous systems. ADRA2A inhibits transmitter release at high stimulation frequencies, whereas ADRA2C modulates neurotransmission at lower levels of nerve activity. The rank order of potency for physiological agonists of ADRA2C is epinephrine > norepinephrine > dopamine. Location: Cell membrane (UniProt). Locus 4p16.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"adrm1","kind":"target","name":"ADRM1","aka":["ADRM1 26S proteasome ubiquitin receptor","Proteasomal ubiquitin receptor ADRM1","GP110","Rpn13","ARM1","PSMD16"],"tldr":"ADRM1 (Proteasomal ubiquitin receptor ADRM1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes clinical 0.99, literature 0.93, genetic association 0.00, somatic mutation 0.23, animal model 0.26).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15759","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15759"},{"label":"UniProt Q16186","url":"https://www.uniprot.org/uniprotkb/Q16186/entry"},{"label":"NCBI Gene 11047","url":"https://www.ncbi.nlm.nih.gov/gene/11047"},{"label":"Ensembl ENSG00000130706","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130706"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ADRM1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:15759","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15759","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16186","url":"https://www.uniprot.org/uniprotkb/Q16186/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000130706","url":"https://platform.opentargets.org/target/ENSG00000130706/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ADRM1: RNA tissue enhanced (skeletal muscle 376 nTPM); high antibody staining in 23 normal tissues; highest cancer staining thyroid cancer (3 of 3 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ADRM1 tissue","url":"https://www.proteinatlas.org/ENSG00000130706-ADRM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000130706 associations","url":"https://platform.opentargets.org/target/ENSG00000130706/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:15759","ensembl":"ENSG00000130706","uniprot":"Q16186","entrez":"11047","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shimada et al, Cancer Res, 1994, \"Molecular cloning and characterization of the complementary DNA of an M(r) 110,000 antigen expressed by human gastric carcinoma cells and upregulated by gamma-interferon\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8033103/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Within the complex, functions as a proteasomal ubiquitin receptor. Engages and activates 19S-associated deubiquitinases UCHL5 and PSMD14 during protein degradation. UCHL5 reversibly associate with the 19S regulatory particle whereas PSMD14 is an intrinsic subunit of the proteasome lid subcomplex. Location: Cytoplasm; Nucleus (UniProt). Locus 20q13.33 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"aebp1","kind":"target","name":"AEBP1","aka":["AE binding protein 1","Adipocyte enhancer-binding protein 1"],"tldr":"AEBP1 (Adipocyte enhancer-binding protein 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"As a positive regulator of collagen fibrillogenesis, it is probably involved in the organisation and remodeling of the extracellular matrix. May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Vemurafenib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:303","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:303"},{"label":"UniProt Q8IUX7","url":"https://www.uniprot.org/uniprotkb/Q8IUX7/entry"},{"label":"NCBI Gene 165","url":"https://www.ncbi.nlm.nih.gov/gene/165"},{"label":"Ensembl ENSG00000106624","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106624"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AEBP1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:303","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:303","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IUX7","url":"https://www.uniprot.org/uniprotkb/Q8IUX7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene AEBP1","url":"https://civicdb.org/features/221","note":"1 evidence items, 0 assertions, 1 variants; diseases: Skin Melanoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA AEBP1: RNA tissue enriched (blood vessel 1,145 nTPM); blood lineage lineage enriched (dendritic cells 8 nTPM); high antibody staining in 3 normal tissues; highest cancer staining melanoma (5 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas AEBP1 tissue","url":"https://www.proteinatlas.org/ENSG00000106624-AEBP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106624 associations","url":"https://platform.opentargets.org/target/ENSG00000106624/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:303","ensembl":"ENSG00000106624","uniprot":"Q8IUX7","entrez":"165","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohno et al, Biochem. Biophys. Res. Commun, 1996, \"A cDNA cloning of human AEBP1 from primary cultured osteoblasts and its expression in a differentiating osteoblastic cell line\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8920928/","biology":"As a positive regulator of collagen fibrillogenesis, it is probably involved in the organisation and remodeling of the extracellular matrix. May positively regulate MAP-kinase activity in adipocytes, leading to enhanced adipocyte proliferation and reduced adipocyte differentiation. May also positively regulate NF-kappa-B activity in macrophages by promoting the phosphorylation and subsequent degradation of I-kappa-B-alpha (NFKBIA), leading to enhanced macrophage inflammatory responsiveness. Can act as a transcriptional repressor. Location: Secreted; Cytoplasm; Nucleus (UniProt). Locus 7p13 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"afdn","kind":"target","name":"AFDN","aka":["afadin, adherens junction formation factor","Afadin","AF-6","AF6","MLLT4"],"tldr":"AFDN (Afadin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Skin cancer, Colorectal cancer and 2 more.","summary":"Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organisation of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton. May play a key role in the organisation of epithelial structures of the embryonic ectoderm.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.94, animal model 0.59, genetic association 0.00, somatic mutation 0.85). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7137","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7137"},{"label":"UniProt P55196","url":"https://www.uniprot.org/uniprotkb/P55196/entry"},{"label":"NCBI Gene 4301","url":"https://www.ncbi.nlm.nih.gov/gene/4301"},{"label":"Ensembl ENSG00000130396","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130396"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","colorectal","lung-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AFDN","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7137","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7137","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55196","url":"https://www.uniprot.org/uniprotkb/P55196/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000130396","url":"https://platform.opentargets.org/target/ENSG00000130396/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: colorectal cancer 0.53, melanoma 0.55, skin cancer 0.58, breast cancer 0.57, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen AFDN","url":"https://www.intogen.org/search?gene=AFDN","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7137","ensembl":"ENSG00000130396","uniprot":"P55196","entrez":"4301","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Prasad et al, Cancer Res, 1993, \"Cloning of the ALL-1 fusion partner, the AF-6 gene, involved in acute myeloid leukemias with the t(6;11) chromosome translocation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8242616/","biology":"Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organisation of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton. May play a key role in the organisation of epithelial structures of the embryonic ectoderm. Essential for the organisation of adherens junctions. Location: Cell junction, adherens junction (UniProt). Locus 6q27 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"aff1","kind":"target","name":"AFF1","aka":["ALF transcription elongation factor 1","AF4/FMR2 family member 1","AF-4","AF4","PBM1","MLLT2"],"tldr":"AFF1 (AF4/FMR2 family member 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Non-Hodgkin lymphoma, Melanoma and 1 more.","summary":"Plays an essential role in the activation of transcription elongation from RNA polymerase II promoters, after transcriptional pausing in response to DNA damage. Upon DNA damage, AFF1-mediated transcriptional recovery requires AFF1 poly-ADP-ribosylation by PARP1.\n\nOpen Targets scores its association with cancer at 0.45 (direct and indirect evidence; datatypes literature 0.58, animal model 0.39, genetic association 0.03, somatic mutation 0.70). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7135","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7135"},{"label":"UniProt P51825","url":"https://www.uniprot.org/uniprotkb/P51825/entry"},{"label":"NCBI Gene 4299","url":"https://www.ncbi.nlm.nih.gov/gene/4299"},{"label":"Ensembl ENSG00000172493","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172493"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","melanoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AFF1","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7135","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7135","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51825","url":"https://www.uniprot.org/uniprotkb/P51825/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172493","url":"https://platform.opentargets.org/target/ENSG00000172493/associations","note":"association with cancer (MONDO_0004992) 0.45; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.54, non-Hodgkin lymphoma 0.55, leukaemia 0.57 (GraphQL API, CC0)"},{"label":"IntOGen AFF1","url":"https://www.intogen.org/search?gene=AFF1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7135","ensembl":"ENSG00000172493","uniprot":"P51825","entrez":"4299","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nakamura et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8506309/","biology":"Plays an essential role in the activation of transcription elongation from RNA polymerase II promoters, after transcriptional pausing in response to DNA damage. Upon DNA damage, AFF1-mediated transcriptional recovery requires AFF1 poly-ADP-ribosylation by PARP1. Location: Nucleus (UniProt). Locus 4q21.3-q22.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Melanoma: IntOGen driver in 1 cohort (MEL)","Acute lymphoblastic leukaemia: Open Targets association 0.54 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"aff3","kind":"target","name":"AFF3","aka":["ALF transcription elongation factor 3","AF4/FMR2 family member 3","MLLT2-like","LAF4"],"tldr":"AFF3 (AF4/FMR2 family member 3) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Thyroid cancer, Skin cancer and 4 more.","summary":"Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.87, animal model 0.46, genetic association 0.00, somatic mutation 0.84). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Lung Adenocarcinoma, Well-Differentiated Thyroid Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6473","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6473"},{"label":"UniProt P51826","url":"https://www.uniprot.org/uniprotkb/P51826/entry"},{"label":"NCBI Gene 3899","url":"https://www.ncbi.nlm.nih.gov/gene/3899"},{"label":"Ensembl ENSG00000144218","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144218"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","thyroid","skin-cancer","lung-cancer","gastric","nsclc","papillary-thyroid-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AFF3","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6473","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6473","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51826","url":"https://www.uniprot.org/uniprotkb/P51826/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000144218","url":"https://platform.opentargets.org/target/ENSG00000144218/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: gastric cancer 0.52, skin cancer 0.55, breast cancer 0.58, lung cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen AFF3","url":"https://www.intogen.org/search?gene=AFF3","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6473","ensembl":"ENSG00000144218","uniprot":"P51826","entrez":"3899","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ma et al, Blood, 1996, \"LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8555498/","biology":"Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA. Location: Nucleus (UniProt). Locus 2q11.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254)","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.55 with lung cancer (MONDO_0008903)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"transcription","prevalence":[]},{"id":"aff4","kind":"target","name":"AFF4","aka":["ALF transcription elongation factor 4","AF4/FMR2 family member 4","AF5Q31"],"tldr":"AFF4 (AF4/FMR2 family member 4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Skin cancer, Colorectal cancer and 3 more.","summary":"Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.31, somatic mutation 0.81). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17869","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17869"},{"label":"UniProt Q9UHB7","url":"https://www.uniprot.org/uniprotkb/Q9UHB7/entry"},{"label":"NCBI Gene 27125","url":"https://www.ncbi.nlm.nih.gov/gene/27125"},{"label":"Ensembl ENSG00000072364","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072364"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","skin-cancer","colorectal","breast-cancer","lung-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AFF4","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:17869","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17869","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UHB7","url":"https://www.uniprot.org/uniprotkb/Q9UHB7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000072364","url":"https://platform.opentargets.org/target/ENSG00000072364/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.52, melanoma 0.52, skin cancer 0.54, breast cancer 0.52, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen AFF4","url":"https://www.intogen.org/search?gene=AFF4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:17869","ensembl":"ENSG00000072364","uniprot":"Q9UHB7","entrez":"27125","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Taki et al, Proc. Natl. Acad. Sci. U.S.A, 1999, \"AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10588740/","biology":"Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression. Location: Nucleus; Chromosome (UniProt). Locus 5q31.1 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"aggf1","kind":"target","name":"AGGF1","aka":["angiogenic factor with G-patch and FHA domains 1","Angiogenic factor with G patch and FHA domains 1","VG5Q","HSU84971","FLJ10283","GPATC7","GPATCH7"],"tldr":"AGGF1 (Angiogenic factor with G patch and FHA domains 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.89, animal model 0.41, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24684","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24684"},{"label":"UniProt Q8N302","url":"https://www.uniprot.org/uniprotkb/Q8N302/entry"},{"label":"NCBI Gene 55109","url":"https://www.ncbi.nlm.nih.gov/gene/55109"},{"label":"Ensembl ENSG00000164252","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164252"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AGGF1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:24684","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24684","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8N302","url":"https://www.uniprot.org/uniprotkb/Q8N302/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164252","url":"https://platform.opentargets.org/target/ENSG00000164252/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:24684","ensembl":"ENSG00000164252","uniprot":"Q8N302","entrez":"55109","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dickson M.C. et al, 1997.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8N302/entry","biology":"Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion. Location: Cytoplasm; Secreted (UniProt). Locus 5q13.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"agk","kind":"target","name":"AGK","aka":["acylglycerol kinase","Acylglycerol kinase, mitochondrial","FLJ10842"],"tldr":"AGK (Acylglycerol kinase, mitochondrial) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Phosphorylates ceramide.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.89, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21869","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21869"},{"label":"UniProt Q53H12","url":"https://www.uniprot.org/uniprotkb/Q53H12/entry"},{"label":"NCBI Gene 55750","url":"https://www.ncbi.nlm.nih.gov/gene/55750"},{"label":"Ensembl ENSG00000006530","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000006530"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AGK","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:21869","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21869","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q53H12","url":"https://www.uniprot.org/uniprotkb/Q53H12/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000006530","url":"https://platform.opentargets.org/target/ENSG00000006530/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:21869","ensembl":"ENSG00000006530","uniprot":"Q53H12","entrez":"55750","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hillier L.W. et al, Nature, 2003, \"The DNA sequence of human chromosome 7\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12853948/","biology":"Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Phosphorylates ceramide. Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol. Independently of its lipid kinase activity, acts as a component of the TIM22 complex. The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force. Location: Mitochondrion inner membrane; Mitochondrion intermembrane space (UniProt). Locus 7q34 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"agr2","kind":"target","name":"AGR2","aka":["anterior gradient 2, protein disulphide isomerase family member","Anterior gradient protein 2 homolog","XAG-2","HAG-2","AG2","PDIA17"],"tldr":"AGR2 (Anterior gradient protein 2 homolog) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells. Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Tamoxifen.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:328","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:328"},{"label":"UniProt O95994","url":"https://www.uniprot.org/uniprotkb/O95994/entry"},{"label":"NCBI Gene 10551","url":"https://www.ncbi.nlm.nih.gov/gene/10551"},{"label":"Ensembl ENSG00000106541","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106541"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AGR2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:328","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:328","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95994","url":"https://www.uniprot.org/uniprotkb/O95994/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene AGR2","url":"https://civicdb.org/features/8407","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA AGR2: RNA tissue enhanced (cervix 600 nTPM, intestine 1,148 nTPM, stomach 1 1,324 nTPM); high antibody staining in 18 normal tissues; highest cancer staining stomach cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas AGR2 tissue","url":"https://www.proteinatlas.org/ENSG00000106541-AGR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106541 associations","url":"https://platform.opentargets.org/target/ENSG00000106541/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:328","ensembl":"ENSG00000106541","uniprot":"O95994","entrez":"10551","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Thompson D.A. et al, Biochem. Biophys. Res. Commun, 1998, \"hAG-2, the human homologue of the Xenopus laevis cement gland gene XAG-2, is coexpressed with estrogen receptor in breast cancer cell lines\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9790916/","biology":"Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells. Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth. Promotes cell adhesion. Location: Secreted; Endoplasmic reticulum (UniProt). Locus 7p21.1 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"agtrap","kind":"target","name":"AGTRAP","aka":["angiotensin II receptor associated protein","Type-1 angiotensin II receptor-associated protein","ATRAP"],"tldr":"AGTRAP (Type-1 angiotensin II receptor-associated protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signalling by regulating receptor internalisation as well as mechanism of receptor desensitisation such as phosphorylation. Also induces a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.92, affected pathway 0.89, animal model 0.26, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13539"},{"label":"UniProt Q6RW13","url":"https://www.uniprot.org/uniprotkb/Q6RW13/entry"},{"label":"NCBI Gene 57085","url":"https://www.ncbi.nlm.nih.gov/gene/57085"},{"label":"Ensembl ENSG00000177674","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177674"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AGTRAP","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13539","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6RW13","url":"https://www.uniprot.org/uniprotkb/Q6RW13/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000177674","url":"https://platform.opentargets.org/target/ENSG00000177674/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:13539","ensembl":"ENSG00000177674","uniprot":"Q6RW13","entrez":"57085","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ye R.D. et al, 1999.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q6RW13/entry","biology":"Appears to be a negative regulator of type-1 angiotensin II receptor-mediated signalling by regulating receptor internalisation as well as mechanism of receptor desensitisation such as phosphorylation. Also induces a decrease in cell proliferation and angiotensin II-stimulated transcriptional activity. Location: Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle membrane (UniProt). Locus 1p36.22 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"aimp2","kind":"target","name":"AIMP2","aka":["aminoacyl tRNA synthetase complex interacting multifunctional protein 2","Aminoacyl tRNA synthase complex-interacting multifunctional protein 2","p38","PRO0992","JTV-1","JTV1"],"tldr":"AIMP2 (Aminoacyl tRNA synthase complex-interacting multifunctional protein 2) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer.","summary":"Required for assembly and stability of the aminoacyl-tRNA synthase complex. Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20609","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20609"},{"label":"UniProt Q13155","url":"https://www.uniprot.org/uniprotkb/Q13155/entry"},{"label":"NCBI Gene 7965","url":"https://www.ncbi.nlm.nih.gov/gene/7965"},{"label":"Ensembl ENSG00000106305","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106305"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AIMP2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:20609","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20609","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13155","url":"https://www.uniprot.org/uniprotkb/Q13155/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene AIMP2","url":"https://civicdb.org/features/6394","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA AIMP2: RNA tissue enhanced (skeletal muscle 151 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas AIMP2 tissue","url":"https://www.proteinatlas.org/ENSG00000106305-AIMP2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106305 associations","url":"https://platform.opentargets.org/target/ENSG00000106305/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20609","ensembl":"ENSG00000106305","uniprot":"Q13155","entrez":"7965","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nicolaides N.C. et al, Genomics, 1995, \"Analysis of the 5' region of PMS2 reveals heterogeneous transcripts and a novel overlapping gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8666379/","biology":"Required for assembly and stability of the aminoacyl-tRNA synthase complex. Mediates ubiquitination and degradation of FUBP1, a transcriptional activator of MYC, leading to MYC down-regulation which is required for aveolar type II cell differentiation. Blocks MDM2-mediated ubiquitination and degradation of p53/TP53. Functions as a proapoptotic factor. Location: Cytoplasm, cytosol; Nucleus (UniProt). Locus 7p22.1 (HGNC).","whereFound":["Lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ajuba","kind":"target","name":"AJUBA","aka":["ajuba LIM protein","LIM domain-containing protein ajuba","MGC15563"],"tldr":"AJUBA (LIM domain-containing protein ajuba) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Head and neck squamous cell carcinoma.","summary":"Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organisation, repression of gene transcription, mitosis, cell-cell adhesion, cell differentiation, proliferation and migration. Contributes to the linking and/or strengthening of epithelia cell-cell junctions in part by linking adhesive receptors to the actin cytoskeleton. May be involved in signal transduction from cell adhesion sites to the nucleus.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Head and Neck Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20250"},{"label":"UniProt Q96IF1","url":"https://www.uniprot.org/uniprotkb/Q96IF1/entry"},{"label":"NCBI Gene 84962","url":"https://www.ncbi.nlm.nih.gov/gene/84962"},{"label":"Ensembl ENSG00000129474","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129474"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AJUBA","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:20250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20250","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96IF1","url":"https://www.uniprot.org/uniprotkb/Q96IF1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen AJUBA","url":"https://www.intogen.org/search?gene=AJUBA","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:20250","ensembl":"ENSG00000129474","uniprot":"Q96IF1","entrez":"84962","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hirota et al, Cell, 2003, \"Aurora-A and an interacting activator, the LIM protein Ajuba, are required for mitotic commitment in human cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/13678582/","biology":"Adapter or scaffold protein which participates in the assembly of numerous protein complexes and is involved in several cellular processes such as cell fate determination, cytoskeletal organisation, repression of gene transcription, mitosis, cell-cell adhesion, cell differentiation, proliferation and migration. Contributes to the linking and/or strengthening of epithelia cell-cell junctions in part by linking adhesive receptors to the actin cytoskeleton. May be involved in signal transduction from cell adhesion sites to the nucleus. Plays an important role in regulation of the kinase activity of AURKA for mitotic commitment. Also a component of the IL-1 signalling pathway modulating IL-1-induced NFKB1 activation by influencing the assembly and activity of the PRKCZ-SQSTM1-TRAF6 multiprotein signalling complex. Functions as an HDAC-dependent corepressor for a subset of GFI1 target genes. Location: Cytoplasm, cytoskeleton; Cell membrane; Cell junction; Nucleus (UniProt). Locus 14q11.2 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"akap9","kind":"target","name":"AKAP9","aka":["A-kinase anchoring protein 9","A-kinase anchor protein 9","KIAA0803","AKAP350","AKAP450","CG-NAP","YOTIAO","HYPERION","PRKA9","MU-RMS-40.16A","PPP1R45","LQT11"],"tldr":"AKAP9 (A-kinase anchor protein 9) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Breast cancer, Renal cell carcinoma and 5 more.","summary":"Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus. Required for microtubule nucleation at the cis-side of the Golgi apparatus.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.86, affected pathway 0.89, genetic association 0.41, somatic mutation 0.50). IntOGen calls it a driver in 10 cohorts (5 activating, 4 loss-of-function), covering Basal Cell Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:379","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:379"},{"label":"UniProt Q99996","url":"https://www.uniprot.org/uniprotkb/Q99996/entry"},{"label":"NCBI Gene 10142","url":"https://www.ncbi.nlm.nih.gov/gene/10142"},{"label":"Ensembl ENSG00000127914","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127914"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","breast-cancer","rcc","esophageal","hcc","head-and-neck","gastric","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AKAP9","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:379","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:379","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99996","url":"https://www.uniprot.org/uniprotkb/Q99996/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000127914","url":"https://platform.opentargets.org/target/ENSG00000127914/associations","note":"association with cancer (MONDO_0004992) 0.67;  (GraphQL API, CC0)"},{"label":"IntOGen AKAP9","url":"https://www.intogen.org/search?gene=AKAP9","note":"driver in 10 cohorts (Act 5, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:379","ensembl":"ENSG00000127914","uniprot":"Q99996","entrez":"10142","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lin J.W. et al, J. Neurosci, 1998, \"Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9482789/","biology":"Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus. Required for microtubule nucleation at the cis-side of the Golgi apparatus. Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase. In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarised cell movement. In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery. Location: Golgi apparatus; Cytoplasm; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 7q21.2 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Breast cancer: IntOGen driver in 1 cohort (BRCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)"],"targetClass":"oncogene","prevalence":[]},{"id":"akt","kind":"target","name":"AKT","aka":[],"tldr":"AKT is a central survival kinase downstream of PI3K, blocked by capivasertib in breast and now prostate cancer.","summary":"AKT1, AKT2 and AKT3 are serine/threonine kinases at the centre of the PI3K survival pathway, and the AKT1 E17K hotspot is an activating mutation found in about 3 to 5 percent of hormone-receptor-positive breast cancers. Capivasertib (Truqap), a pan-AKT inhibitor, is approved with fulvestrant in HR-positive breast cancer carrying PIK3CA, AKT1 or PTEN alterations (CAPItello-291), a group that makes up around half of such tumours, and from 2026 with abiraterone in PTEN-deficient metastatic prostate cancer (CAPItello-281). PTEN loss activates the pathway in roughly 15 to 20 percent of prostate cancers and around 40 percent of metastatic castration-resistant disease. Hyperglycaemia, diarrhoea and rash are the class toxicities, and whether unselected patients also benefit is contested. In plain terms, AKT is the survival kinase downstream of PI3K, now blocked in breast and prostate cancer.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Protein_kinase_B","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Protein_kinase_B"}],"tags":["kinase"],"related":["akt1-e17k"],"cancers":["breast-hr-positive","prostate","tnbc"],"sections":[],"technologies":["pi3k-akt-mtor-inhibitors"],"targets":[],"drugs":["ipatasertib"],"companies":[],"institutions":[],"pathways":["pi3k-akt-mtor","aml-signalling","cml-signalling","melanoma-signalling","nsclc-signalling","prostate-cancer-signalling","sclc-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-schmid-pakt-capivasertib-tnbc-jco-2020","paper-bareche-tnbc-multiomic-heterogeneity-ann-oncol-2018","paper-kim-lotus-ipatasertib-tnbc-lancet-oncol-2017"],"journals":[],"dependsOn":[],"notes":["Triple-negative breast cancer: PIK3CA, AKT1 or PTEN altered in 20% of PAKT patients, in whom capivasertib gave a progression-free survival hazard ratio of 0.30 (Schmid 2020), and in 26.7% of 176 MSK triple-negative samples (cBioPortal); the phase 3 trials IPATunity130 and CAPItello-290 did not confirm the phase 2 signals, so no AKT inhibitor is approved in TNBC."],"symbol":"AKT1/2/3","role":[],"sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (AKT1 E17K mutation) absent from normal cells. HPA AKT1: RNA low tissue specificity; high antibody staining in 28 normal tissues; highest cancer staining endometrial cancer (6 of 11 high). HPA AKT2: RNA low tissue specificity; no normal tissue stained high; highest cancer staining breast cancer (9 of 12 high). HPA AKT3: RNA low tissue specificity; high antibody staining in 7 normal tissues; highest cancer staining melanoma (6 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Prostate cancer); Open Targets associates it with 7 specific cancer types at or above 0.5 (Proteus syndrome, breast cancer, breast adenocarcinoma, breast carcinoma, colorectal adenocarcinoma, ovarian carcinoma and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"AKT1 E17K mutation label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=d698c106-2322-401e-b738-cbd83c843ecf","note":"AKT1 alteration (with PIK3CA and PTEN as the qualifying set)"},{"label":"Human Protein Atlas AKT1 tissue","url":"https://www.proteinatlas.org/ENSG00000142208-AKT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas AKT2 tissue","url":"https://www.proteinatlas.org/ENSG00000105221-AKT2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas AKT3 tissue","url":"https://www.proteinatlas.org/ENSG00000117020-AKT3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000142208 associations","url":"https://platform.opentargets.org/target/ENSG00000142208/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000105221 associations","url":"https://platform.opentargets.org/target/ENSG00000105221/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Serine/threonine kinase; AKT1 E17K is an activating hotspot.","whereFound":["Breast","Prostate (PTEN loss)","Endometrial","Triple-negative breast cancer: pi3k-akt pathway alteration (any of the three) 20-27%"],"targetClass":"kinase","prevalence":[{"cancerId":"breast-hr-positive","pct":"3-5","measure":"AKT1 E17K","source":"https://www.cbioportal.org/study/summary?id=brca_tcga_pan_can_atlas_2018","note":"~50% have PIK3CA/AKT1/PTEN alteration combined"},{"cancerId":"prostate","pct":"15-20","measure":"PTEN loss (pathway activation)","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"Higher in mCRPC (~40%)"},{"cancerId":"tnbc","pct":"20-27","measure":"PI3K-AKT pathway alteration (any of the three)","source":"https://doi.org/10.1200/JCO.19.00368","note":"28 of 140 first-line metastatic TNBC patients, 20%, in PAKT, where capivasertib gave a progression-free survival hazard ratio of 0.30 in that subgroup (Schmid 2020); cBioPortal: PIK3CA, AKT1 or PTEN mutation or PTEN deep deletion in 47 of 176 samples, 26.7%, in breast_msk_2018. AKT1 mutation alone in 13% of LAR tumours (Bareche 2018), 10 of 299, 3.3%, in brca_metabric and 4 of 176, 2.3%, in breast_msk_2018. LOTUS randomised 124 patients with PTEN-low tumours as a co-primary population (Kim 2017)."}]},{"id":"alcam","kind":"target","name":"ALCAM","aka":["activated leukocyte cell adhesion molecule","CD166 antigen","CD166"],"tldr":"ALCAM (CD166 antigen) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Cell adhesion molecule that mediates both heterotypic cell-cell contacts via its interaction with CD6, as well as homotypic cell-cell contacts. Promotes T-cell activation and proliferation via its interactions with CD6. Contributes to the formation and maturation of the immunological synapse via its interactions with CD6.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Fluorouracil.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:400","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:400"},{"label":"UniProt Q13740","url":"https://www.uniprot.org/uniprotkb/Q13740/entry"},{"label":"NCBI Gene 214","url":"https://www.ncbi.nlm.nih.gov/gene/214"},{"label":"Ensembl ENSG00000170017","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170017"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ALCAM","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:400","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:400","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13740","url":"https://www.uniprot.org/uniprotkb/Q13740/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ALCAM","url":"https://civicdb.org/features/259","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ALCAM: RNA tissue enriched (parathyroid gland 413 nTPM); blood lineage lineage enriched (dendritic cells 30 nTPM); high antibody staining in 18 normal tissues; highest cancer staining prostate cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ALCAM tissue","url":"https://www.proteinatlas.org/ENSG00000170017-ALCAM/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000170017 associations","url":"https://platform.opentargets.org/target/ENSG00000170017/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:400","ensembl":"ENSG00000170017","uniprot":"Q13740","entrez":"214","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bowen M.A. et al, J. Exp. Med, 1995, \"Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7760007/","biology":"Cell adhesion molecule that mediates both heterotypic cell-cell contacts via its interaction with CD6, as well as homotypic cell-cell contacts. Promotes T-cell activation and proliferation via its interactions with CD6. Contributes to the formation and maturation of the immunological synapse via its interactions with CD6. Mediates homotypic interactions with cells that express ALCAM. Acts as a ligand for the LILRB4 receptor, enhancing LILRB4-mediated inhibition of T cell proliferation. Required for normal haematopoietic stem cell engraftment in the bone marrow. Location: Cell membrane; Cell projection, axon; Cell projection, dendrite; Secreted (UniProt). Locus 3q13.11 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"aldh1a2","kind":"target","name":"ALDH1A2","aka":["aldehyde dehydrogenase 1 family member A2","Retinal dehydrogenase 2","RALDH2"],"tldr":"ALDH1A2 (Retinal dehydrogenase 2) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Head and neck squamous cell carcinoma.","summary":"Catalyses the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively. Retinoate signalling is critical for the transcriptional control of many genes, for instance it is crucial for initiation of meiosis in both male and female. Recognises retinal as substrate, both in its free form and when bound to cellular retinol-binding protein.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Tretinoin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15472","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15472"},{"label":"UniProt O94788","url":"https://www.uniprot.org/uniprotkb/O94788/entry"},{"label":"NCBI Gene 8854","url":"https://www.ncbi.nlm.nih.gov/gene/8854"},{"label":"Ensembl ENSG00000128918","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128918"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ALDH1A2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:15472","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15472","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O94788","url":"https://www.uniprot.org/uniprotkb/O94788/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ALDH1A2","url":"https://civicdb.org/features/7024","note":"3 evidence items, 0 assertions, 2 variants; diseases: Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ALDH1A2: RNA tissue enhanced (endometrium 1 77 nTPM, fallopian tube 70 nTPM); blood lineage lineage enriched (granulocytes 33 nTPM); high antibody staining in 5 normal tissues; highest cancer staining colorectal cancer (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ALDH1A2 tissue","url":"https://www.proteinatlas.org/ENSG00000128918-ALDH1A2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000128918 associations","url":"https://platform.opentargets.org/target/ENSG00000128918/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:15472","ensembl":"ENSG00000128918","uniprot":"O94788","entrez":"8854","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ono et al, Mol. Cell. Biol, 1998, \"TAL1 and LIM-only proteins synergistically induce retinaldehyde dehydrogenase 2 expression in T-cell acute lymphoblastic leukemia by acting as cofactors for GATA3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9819382/","biology":"Catalyses the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively. Retinoate signalling is critical for the transcriptional control of many genes, for instance it is crucial for initiation of meiosis in both male and female. Recognises retinal as substrate, both in its free form and when bound to cellular retinol-binding protein. Can metabolise octanal and decanal, but has only very low activity with benzaldehyde, acetaldehyde and propanal. Displays complete lack of activity with citral. Location: Cytoplasm (UniProt). Locus 15q21.3 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"aldh2","kind":"target","name":"ALDH2","aka":["aldehyde dehydrogenase 2 family member","Aldehyde dehydrogenase, mitochondrial"],"tldr":"ALDH2 (Aldehyde dehydrogenase, mitochondrial) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target and an oncogene driver, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Osteosarcoma.","summary":"Mitochondrial aldehyde dehydrogenase with broad substrate specificity which participates in the detoxification of ethanol-derived acetaldehyde and endogenous aldehydes, including those arising from lipid peroxidation. The reaction mechanism involves a nucleophilic attack on the aldehyde substrate, resulting in formation of a thiohemiacetal intermediate. Subsequent hydride transfer to NAD+, yields a thioester intermediate which is hydrolysed to the carboxylic acid product through activation of a water molecule by the catalytic glutamate.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes clinical 0.42, literature 0.99, genetic association 0.61, somatic mutation 0.43, animal model 0.52). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Osteosarcoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:404","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:404"},{"label":"UniProt P05091","url":"https://www.uniprot.org/uniprotkb/P05091/entry"},{"label":"NCBI Gene 217","url":"https://www.ncbi.nlm.nih.gov/gene/217"},{"label":"Ensembl ENSG00000111275","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111275"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["osteosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.42; IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ALDH2","role":["drug-target","oncogene-driver"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:404","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:404","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P05091","url":"https://www.uniprot.org/uniprotkb/P05091/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000111275","url":"https://platform.opentargets.org/target/ENSG00000111275/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"},{"label":"IntOGen ALDH2","url":"https://www.intogen.org/search?gene=ALDH2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ALDH2: RNA tissue enhanced (liver 801 nTPM); blood lineage group enriched (dendritic cells 214 nTPM, monocytes 213 nTPM); high antibody staining in 3 normal tissues; highest cancer staining melanoma (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P05091","url":"https://www.uniprot.org/uniprotkb/P05091/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ALDH2","url":"https://www.intogen.org/search?gene=ALDH2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ALDH2 tissue","url":"https://www.proteinatlas.org/ENSG00000111275-ALDH2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000111275 associations","url":"https://platform.opentargets.org/target/ENSG00000111275/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:404","ensembl":"ENSG00000111275","uniprot":"P05091","entrez":"217","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hempel et al, Eur. J. Biochem, 1985, \"Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/4065146/","biology":"Mitochondrial aldehyde dehydrogenase with broad substrate specificity which participates in the detoxification of ethanol-derived acetaldehyde and endogenous aldehydes, including those arising from lipid peroxidation. The reaction mechanism involves a nucleophilic attack on the aldehyde substrate, resulting in formation of a thiohemiacetal intermediate. Subsequent hydride transfer to NAD+, yields a thioester intermediate which is hydrolysed to the carboxylic acid product through activation of a water molecule by the catalytic glutamate. In vivo, ALDH2 is required for the clearance of formaldehyde, a cytotoxic and carcinogenic endogenous metabolite that induces DNA damage. It also catalyses the oxidation of 3,4-dihydroxyphenylacetaldehyde (DOPAL), a reactive intermediate of dopamine catabolism, to 3,4-dihydroxyphenylacetate (DOPAC). ALDH2 may also catalyse the oxidation of 4-aminobutanal (gamma-aminobutyraldehyde) to 4-aminobutanoate (GABA), representing an alternative route for GABA biosynthesis from polyamine catabolism. Location: Mitochondrion (UniProt). Locus 12q24.12 (HGNC).","whereFound":["Osteosarcoma: IntOGen driver in 1 cohort (OS)"],"targetClass":"oncogene","prevalence":[]},{"id":"alk","kind":"target","name":"ALK","aka":[],"tldr":"ALK is a gene fusion driver in about 4 to 5% of non-small-cell lung cancers that responds to a succession of ALK inhibitor pills. Lorlatinib kept about 60% of patients progression-free at five years, alectinib is approved after surgery, and neladalkib targets compound resistance mutations.","summary":"ALK rearrangements occur in ~4-5% of NSCLC, typically in younger never-smokers. Lorlatinib achieved 5-year PFS of ~60% in CROWN, the longest of any targeted therapy in metastatic NSCLC. Alectinib is approved in the adjuvant setting (ALINA). Fourth-generation inhibitors (neladalkib) address compound resistance mutations.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Anaplastic_lymphoma_kinase","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Anaplastic_lymphoma_kinase"}],"tags":["driver","kinase"],"related":["alk-fusion","alk-resistance-mutation"],"cancers":["nsclc","neuroblastoma","pancreatic","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["ceritinib","brigatinib","ensartinib","guardant360-cdx","tri-611"],"companies":["imagene-ai","inivata","lucence","triana-biomedicines"],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","nsclc-signalling"],"terms":["gene-fusion","resistance"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-singhi-alk-rearrangements-pancreatic-jnccn-2017","paper-philip-kras-wild-type-pancreatic-ccr-2022","paper-soda-eml4-alk-fusion-nature-2007","paper-kris-lung-cancer-mutation-consortium-jama-2014"],"journals":[],"dependsOn":[],"notes":["Pancreatic ductal adenocarcinoma: ALK fusions in 5 of 3,170 tumours, 0.16%, all KRAS wild-type and all in patients under 50, among whom the rate is 1.3%; 3 of 4 treated with an ALK inhibitor benefited (Singhi 2017). It is the reason a young patient with a KRAS wild-type tumour should have fusion testing.","Colorectal cancer: ALK fusions in about 0.1% of tumours (cBioPortal). ALK point mutations read far higher on panels but are overwhelmingly passengers in hypermutated tumours; only a fusion is actionable.","Lung cancer: rearranged in 3 to 6% of adenocarcinomas, 5.6% in never smokers, with EML4 the partner in the large majority (cBioPortal; Soda 2007). Panel-based rates run below the fluorescence in situ hybridisation rate of 8% found by the Lung Cancer Mutation Consortium because a DNA panel sees a rearrangement only where it baits the breakpoint intron (Kris 2014). ALK point mutations found at diagnosis are almost all passengers; only a fusion is actionable. At progression the same gene is read again for a different purpose: each inhibitor generation selects its own resistance spectrum, G1202R dominates after a second-generation inhibitor, and the presence of an ALK mutation is what predicts benefit from lorlatinib (69% against 27% response) (Gainor 2016, Shaw 2019)."],"symbol":"ALK","role":[],"sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (ALK fusion (ALK-positive)) absent from normal cells. HPA ALK: RNA tissue enhanced (brain 2 nTPM, pituitary gland 2 nTPM, testis 2 nTPM); high antibody staining in 3 normal tissues; highest cancer staining skin cancer (4 of 10 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Childhood cancers (all types)); approvals of single-target medicines aimed at it also list Brain and spinal cord tumours (all types), not counted; Open Targets associates it with 5 specific cancer types at or above 0.5 (neuroblastoma, neuroblastoma, susceptibility to, 3, non-small cell lung carcinoma, lung cancer, anaplastic large cell lymphoma). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"ALK fusion (ALK-positive) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=42c49deb-713b-427a-9670-08af08adcffb","note":"ALK-positive (adjuvant, tumours >= 4 cm or node positive)"},{"label":"Human Protein Atlas ALK tissue","url":"https://www.proteinatlas.org/ENSG00000171094-ALK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171094 associations","url":"https://platform.opentargets.org/target/ENSG00000171094/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:427","ensembl":"ENSG00000171094","uniprot":"Q9UM73","entrez":"238","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Morris S.W. et al, Science, 1994, \"Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8122112/","biology":"ALK is a receptor tyrosine kinase; the EML4-ALK fusion is most common. It is also altered in anaplastic large-cell lymphoma and neuroblastoma.","whereFound":["NSCLC (~5%)","Anaplastic large-cell lymphoma","Neuroblastoma","Pancreatic ductal adenocarcinoma: gene fusion (eml4-alk, strn-alk) 0.2%","Colorectal cancer: gene fusion 0.1%","Non-small-cell lung cancer: rearrangement, usually eml4-alk 3-6%"],"targetClass":"kinase","prevalence":[{"cancerId":"nsclc","pct":"3-5","measure":"Rearrangement","source":"https://www.cbioportal.org/study/summary?id=luad_tcga_pan_can_atlas_2018","note":"Younger never-smokers"},{"cancerId":"neuroblastoma","pct":"8-14","measure":"Activating mutation/amplification","source":"https://en.wikipedia.org/wiki/Anaplastic_lymphoma_kinase","note":"Higher at relapse"},{"cancerId":"pancreatic","pct":"0.2","measure":"Gene fusion (EML4-ALK, STRN-ALK)","source":"https://doi.org/10.6004/jnccn.2017.0058","note":"5 of 3,170 profiled cancers, 0.16%, all KRAS wild-type and all under 50, where ALK fusions were 1.3% of tumours in patients under 50; 3 of 4 treated with an ALK inhibitor had stable disease, radiographic response or CA 19-9 normalisation (Singhi 2017); 1 of 2,336 (ASAP2-ALK) in pdac_msk_2024 (cBioPortal); 2.6% of 266 KRAS wild-type tumours (Philip 2022)."},{"cancerId":"colorectal","pct":"0.1","measure":"Gene fusion","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal structural variants: 9 of 7,237, 0.12%, in crc_msk_2026; 1 of 594 (PPP4R3B-ALK) in coadread_tcga_pan_can_atlas_2018. ALK point mutations read 388 of 7,237 in crc_msk_2026 but are overwhelmingly passengers in hypermutated tumours, not the fusions that matter."},{"cancerId":"nsclc","pct":"3-6","measure":"Rearrangement, usually EML4-ALK","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal structural variants: 109 of 2,422, 4.5%, in luad_mskcc_2023_met_organotropism (EML4 the partner in 94 of the events); 31 of 915, 3.4%, in lung_msk_2017; 75 of 2,621, 2.9%, in nsclc_ctdx_msk_2022; 13 of 232, 5.6%, in lung_nci_2022; 6 of 181, 3.3%, in luad_oncosg_2020. The original description found the fusion in 5 of 75 patients, 6.7% (Soda 2007), and the Lung Cancer Mutation Consortium found ALK rearrangement in 57 of 733, 8%, by fluorescence in situ hybridisation (Kris 2014)."}]},{"id":"alpk1","kind":"target","name":"ALPK1","aka":["alpha kinase 1","Alpha-protein kinase 1","Lak","FLJ22670","KIAA1527"],"tldr":"ALPK1 (Alpha-protein kinase 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma.","summary":"Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity. Specifically recognises and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria. ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering pro-inflammatory NF-kappa-B signalling.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20917","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20917"},{"label":"UniProt Q96QP1","url":"https://www.uniprot.org/uniprotkb/Q96QP1/entry"},{"label":"NCBI Gene 80216","url":"https://www.ncbi.nlm.nih.gov/gene/80216"},{"label":"Ensembl ENSG00000073331","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000073331"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ALPK1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:20917","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20917","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96QP1","url":"https://www.uniprot.org/uniprotkb/Q96QP1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ALPK1","url":"https://www.intogen.org/search?gene=ALPK1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:20917","ensembl":"ENSG00000073331","uniprot":"Q96QP1","entrez":"80216","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ryazanov A.G. et al, Curr. Biol, 1999, \"Alpha-kinases: a new class of protein kinases with a novel catalytic domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10021370/","biology":"Serine/threonine-protein kinase that detects bacterial pathogen-associated molecular pattern metabolites (PAMPs) and initiates an innate immune response, a critical step for pathogen elimination and engagement of adaptive immunity. Specifically recognises and binds ADP-D-glycero-beta-D-manno-heptose (ADP-Heptose), a potent PAMP present in all Gram-negative and some Gram-positive bacteria. ADP-Heptose-binding stimulates its kinase activity to phosphorylate and activate TIFA, triggering pro-inflammatory NF-kappa-B signalling. May be involved in monosodium urate monohydrate (MSU)-induced inflammation by mediating phosphorylation of unconventional myosin MYO9A. May also play a role in apical protein transport by mediating phosphorylation of unconventional myosin MYO1A. May play a role in ciliogenesis. Location: Cytoplasm, cytosol; Cytoplasm, cytoskeleton, spindle pole; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cell projection, cilium (UniProt). Locus 4q25 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"kinase","prevalence":[]},{"id":"amer1","kind":"target","name":"AMER1","aka":["APC membrane recruitment protein 1","RP11-403E24.2","FLJ39827","FAM123B"],"tldr":"AMER1 (APC membrane recruitment protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Skin cancer, Leukaemia and 3 more.","summary":"Regulator of the canonical Wnt signalling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signalling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signalling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation.\n\nOpen Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.92, literature 0.90, genetic association 0.77, somatic mutation 0.97, animal model 0.41). IntOGen calls it a driver in 9 cohorts (0 activating, 9 loss-of-function), covering Colon Adenocarcinoma, Colorectal Adenocarcinoma, Rectal Adenocarcinoma, Wilms' Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26837","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26837"},{"label":"UniProt Q5JTC6","url":"https://www.uniprot.org/uniprotkb/Q5JTC6/entry"},{"label":"NCBI Gene 139285","url":"https://www.ncbi.nlm.nih.gov/gene/139285"},{"label":"Ensembl ENSG00000184675","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184675"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","skin-cancer","leukaemia","rectal-cancer","wilms-tumor","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["wnt"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-colorectal-comprehensive-characterization-nature-2012"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 9 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: inactivating mutation in 6 to 13% (reported as FAM123B in the TCGA analysis, which named it a new significantly mutated gene). It is a WNT pathway component, which is why its loss substitutes for part of the APC effect (Cancer Genome Atlas Network 2012)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AMER1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:26837","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26837","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5JTC6","url":"https://www.uniprot.org/uniprotkb/Q5JTC6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184675","url":"https://platform.opentargets.org/target/ENSG00000184675/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.75, melanoma 0.54, skin cancer 0.56, leukaemia 0.50 (GraphQL API, CC0)"},{"label":"IntOGen AMER1","url":"https://www.intogen.org/search?gene=AMER1","note":"driver in 9 cohorts (Act 0, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:26837","ensembl":"ENSG00000184675","uniprot":"Q5JTC6","entrez":"139285","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Regulator of the canonical Wnt signalling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signalling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signalling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilisation of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development. Location: Cytoplasm; Cell membrane; Nucleus (UniProt). Locus Xq11.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.75 with colorectal cancer (MONDO_0005575); IntOGen driver in 7 cohorts (COAD, COADREAD)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.50 with leukaemia (MONDO_0005059)","Rectal cancer: IntOGen driver in 1 cohort (READ)","Wilms tumour: IntOGen driver in 1 cohort (WT)","Melanoma: Open Targets association 0.54 with melanoma (MONDO_0005105)","Colorectal cancer: inactivating mutation 6-13%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"colorectal","pct":"6-13","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 550 of 7,237, 7.6%, in crc_msk_2026; 67 of 534, 12.5%, in coadread_tcga_pan_can_atlas_2018; 25 of 224, 11.2%, in coadread_tcga_pub; 52 of 619, 8.4%, in coadread_dfci_2016; 65 of 1,134, 5.7%, in crc_msk_2017. FAM123B was one of the three genes the TCGA analysis added to the expected driver list, with ARID1A and SOX9 (Cancer Genome Atlas Network 2012)."}]},{"id":"androgen-receptor","kind":"target","name":"Androgen receptor","aka":[],"tldr":"The hormone switch that drives prostate cancer, attacked by castration and by pills that block the receptor.","summary":"Androgen deprivation plus AR pathway inhibitors (abiraterone, enzalutamide, apalutamide, darolutamide) is standard in advanced prostate cancer. AR degraders, AR N-terminal domain inhibitors, and combinations with PARP or AKT inhibitors address castration resistance. AR is also a target in a subset of TNBC (luminal androgen receptor subtype).","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Androgen_receptor","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Androgen_receptor"}],"tags":["hormonal"],"related":["ar-v7-splice-variant"],"cancers":["prostate","tnbc"],"sections":[],"technologies":[],"targets":[],"drugs":["nilutamide","triptorelin","bms-986365","azd9750","ep0062","qlh12016"],"companies":["oric-pharmaceuticals"],"institutions":[],"pathways":["ar-signaling","prostate-cancer-signalling"],"terms":["pam50"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-lehmann-tnbctype-4-refinement-plos-one-2016","paper-bareche-tnbc-multiomic-heterogeneity-ann-oncol-2018","paper-gucalp-bicalutamide-ar-positive-tbcrc011-ccr-2013","paper-traina-enzalutamide-ar-tnbc-jco-2018","paper-visakorpi-androgen-receptor-amplification-nat-genet-1995","paper-quigley-structural-variation-mcrpc-cell-2018","paper-abida-genomic-correlates-outcome-mcrpc-pnas-2019","paper-tukachinsky-ctdna-3334-advanced-prostate-ccr-2021"],"journals":[],"dependsOn":[],"notes":["Triple-negative breast cancer: the luminal androgen receptor subtype is 16% (Lehmann 2016, Bareche 2018); AR nuclear staining above 10% in 12% of ER/PR-negative patients screened for bicalutamide (Gucalp 2013); clinical benefit rates 19% (bicalutamide) and 25 to 33% (enzalutamide; Traina 2018). LAR tumours carry PIK3CA in 55% and are 75% HER2-enriched by PAM50 (Bareche 2018)."],"symbol":"AR","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Breast Invasive Carcinoma (TCGA), Prostate Adenocarcinoma (TCGA)) and tissue enhanced in normal liver, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA AR: RNA tissue enhanced (liver 36 nTPM); high antibody staining in 2 normal tissues; highest cancer staining prostate cancer (7 of 8 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Breast cancer (all types)); approvals of single-target medicines aimed at it also list Salivary gland cancers, not counted; Open Targets associates it with 5 specific cancer types at or above 0.5 (prostate cancer, prostate carcinoma, prostate adenocarcinoma, Familial prostate cancer, breast cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas AR tissue","url":"https://www.proteinatlas.org/ENSG00000169083-AR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas AR pathology","url":"https://www.proteinatlas.org/ENSG00000169083-AR/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169083 associations","url":"https://platform.opentargets.org/target/ENSG00000169083/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:644","ensembl":"ENSG00000169083","uniprot":"P10275","entrez":"367","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lubahn D.B. et al, Mol. Endocrinol, 1988, \"The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3216866/","biology":"Nuclear receptor; amplification, splice variants (AR-V7), and ligand-binding-domain mutations drive resistance.","whereFound":["Prostate cancer","LAR-subtype TNBC","Salivary duct carcinoma","Triple-negative breast cancer: ar expression and luminal androgen receptor subtype 12-16%","Prostate cancer: high-level amplification of the gene, and of an upstream enhancer 1-57% depending on disease state","Prostate cancer: l702h, w742c/l, h875y, t878a, f877l 0.4-18% depending on disease state"],"targetClass":"nuclear-receptor","prevalence":[{"cancerId":"prostate","pct":">95","measure":"AR-driven at diagnosis","source":"https://en.wikipedia.org/wiki/Androgen_receptor","note":"AR-V7 in ~20-40% of mCRPC"},{"cancerId":"tnbc","pct":"10-15","measure":"Luminal androgen receptor subtype","source":"https://en.wikipedia.org/wiki/Androgen_receptor"},{"cancerId":"tnbc","pct":"12-16","measure":"AR expression and luminal androgen receptor subtype","source":"https://doi.org/10.1371/journal.pone.0157368","note":"LAR was 16% of tumours by TNBCtype-4 and 9% by the original six-subtype call (Lehmann 2016); 77 of 485 classifiable TNBCs, 16%, with 92% of LAR patients aged 45 or over (Bareche 2018); AR nuclear staining above 10% in 12% of 424 ER/PR-negative patients screened for TBCRC 011 (Gucalp 2013); 78 of 118 enrolled enzalutamide patients had 10% or more nuclear AR (Traina 2018). AR mutation is rare: 2 of 123 in brca_tcga_pan_can_atlas_2018 (cBioPortal)."},{"cancerId":"prostate","pct":"1-57","measure":"High-level amplification of the gene, and of an upstream enhancer","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"cBioPortal high-level amplification: 5 of 489, 1.0%, in prad_tcga_pan_can_atlas_2018; 17 of 424, 4.0%, in prad_mcspc_mskcc_2020; 237 of 2,260, 10.5%, in prostate_msk_2024; 9 of 82, 11.0%, in the patient-contributed mpcproject_broad_2021; 217 of 444, 48.9%, in prad_su2c_2019; 78 of 150, 52.0%, in prad_su2c_2015; 85 of 149, 57.0%, in prad_fhcrc. High-level amplification of Xq11-q13 was found in 7 of 23 tumours recurring on androgen deprivation and none of the pre-treatment specimens from the same men (Visakorpi 1995); the upstream enhancer is amplified in 81% of 101 deeply sequenced castration-resistant genomes (Quigley 2018)."},{"cancerId":"prostate","pct":"0.4-18","measure":"L702H, W742C/L, H875Y, T878A, F877L","source":"https://www.cbioportal.org/study/summary?id=prad_su2c_2019","note":"cBioPortal samples with any AR mutation: 61 of 444, 13.7%, in prad_su2c_2019; 27 of 150, 18.0%, in prad_su2c_2015; 93 of 2,260, 4.1%, in prostate_msk_2024; 9 of 424, 2.1%, in prad_mcspc_mskcc_2020; 2 of 494, 0.4%, in prad_tcga_pan_can_atlas_2018. Allele records in prad_su2c_2019, 72 records: L702H 17, T878A 15, H875Y 11, W742C 8, W742L 4, F877L 3."}]},{"id":"angpt1","kind":"target","name":"ANGPT1","aka":["angiopoietin 1","Angiopoietin-1","KIAA0003","Ang1","AGPT-1"],"tldr":"ANGPT1 (Angiopoietin-1) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Binds and activates TEK/TIE2 receptor by inducing its dimerisation and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganisation of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.44, clinical 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:484","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:484"},{"label":"UniProt Q15389","url":"https://www.uniprot.org/uniprotkb/Q15389/entry"},{"label":"NCBI Gene 284","url":"https://www.ncbi.nlm.nih.gov/gene/284"},{"label":"Ensembl ENSG00000154188","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000154188"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.68. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ANGPT1","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:484","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:484","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15389","url":"https://www.uniprot.org/uniprotkb/Q15389/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000154188","url":"https://platform.opentargets.org/target/ENSG00000154188/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ANGPT1: RNA tissue enhanced (seminal vesicle 32 nTPM); blood lineage lineage enriched (granulocytes 6 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ANGPT1 tissue","url":"https://www.proteinatlas.org/ENSG00000154188-ANGPT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000154188 associations","url":"https://platform.opentargets.org/target/ENSG00000154188/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:484","ensembl":"ENSG00000154188","uniprot":"Q15389","entrez":"284","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584026/","biology":"Binds and activates TEK/TIE2 receptor by inducing its dimerisation and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganisation of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell-cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signalling cascades. Location: Secreted (UniProt). Locus 8q23.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ank1","kind":"target","name":"ANK1","aka":["ankyrin 1","Ankyrin-1","SPH1"],"tldr":"ANK1 (Ankyrin-1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Prostate cancer, Angiosarcoma and 2 more.","summary":"Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane. Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions.\n\nIntOGen calls it a driver in 7 cohorts (5 activating, 2 loss-of-function), covering Angiosarcoma, Cholangiocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Lung Adenocarcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:492","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:492"},{"label":"UniProt P16157","url":"https://www.uniprot.org/uniprotkb/P16157/entry"},{"label":"NCBI Gene 286","url":"https://www.ncbi.nlm.nih.gov/gene/286"},{"label":"Ensembl ENSG00000029534","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000029534"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal","prostate","angiosarcoma","cholangiocarcinoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ANK1","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:492","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:492","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16157","url":"https://www.uniprot.org/uniprotkb/P16157/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ANK1","url":"https://www.intogen.org/search?gene=ANK1","note":"driver in 7 cohorts (Act 5, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:492","ensembl":"ENSG00000029534","uniprot":"P16157","entrez":"286","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lux S.E. et al, Nature, 1990, \"Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2137557/","biology":"Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane. Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. Together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils. Location: Cytoplasm, cytoskeleton; Membrane; Cytoplasm, myofibril, sarcomere, M line; Sarcoplasmic reticulum (UniProt). Locus 8p11.21 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 2 cohorts (COAD, COADREAD)","Prostate cancer: IntOGen driver in 2 cohorts (PRAD)","Angiosarcoma: IntOGen driver in 1 cohort (ANGS)","Biliary tract cancer: IntOGen driver in 1 cohort (CHOL)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"ankrd11","kind":"target","name":"ANKRD11","aka":["ankyrin repeat domain 11","Ankyrin repeat domain-containing protein 11","LZ16","T13","ANCO1","ANCO-1"],"tldr":"ANKRD11 (Ankyrin repeat domain-containing protein 11) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-Hodgkin lymphoma.","summary":"Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells. May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. Has a role in proliferation and development of cortical neural precursors.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Malignant Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21316","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21316"},{"label":"UniProt Q6UB99","url":"https://www.uniprot.org/uniprotkb/Q6UB99/entry"},{"label":"NCBI Gene 29123","url":"https://www.ncbi.nlm.nih.gov/gene/29123"},{"label":"Ensembl ENSG00000167522","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167522"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ANKRD11","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:21316","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21316","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6UB99","url":"https://www.uniprot.org/uniprotkb/Q6UB99/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ANKRD11","url":"https://www.intogen.org/search?gene=ANKRD11","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:21316","ensembl":"ENSG00000167522","uniprot":"Q6UB99","entrez":"29123","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Powell J.A. et al, 2003, \"ANKRD11 and ANKRD12 are novel 9kb genes encoding nuclear-located proteins with ankyrin domains\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q6UB99/entry","biology":"Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells. May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. Has a role in proliferation and development of cortical neural precursors. May also regulate bone homeostasis. Location: Nucleus (UniProt). Locus 16q24.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (MLYM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ano7","kind":"target","name":"ANO7","aka":["anoctamin 7","Anoctamin-7","PCANAP5L","IPCA-5","PCANAP5","TMEM16G"],"tldr":"ANO7 (Anoctamin-7) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide. Does not exhibit calcium-activated chloride channel (CaCC) activity. May play a role in cell-cell interactions.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.73).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:31677","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31677"},{"label":"UniProt Q6IWH7","url":"https://www.uniprot.org/uniprotkb/Q6IWH7/entry"},{"label":"NCBI Gene 50636","url":"https://www.ncbi.nlm.nih.gov/gene/50636"},{"label":"Ensembl ENSG00000146205","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000146205"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ANO7","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:31677","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31677","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6IWH7","url":"https://www.uniprot.org/uniprotkb/Q6IWH7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000146205","url":"https://platform.opentargets.org/target/ENSG00000146205/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: prostate cancer 0.57 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:31677","ensembl":"ENSG00000146205","uniprot":"Q6IWH7","entrez":"50636","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bera T.K. et al, Proc. Natl. Acad. Sci. U.S.A, 2004, \"NGEP, a gene encoding a membrane protein detected only in prostate cancer and normal prostate\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14981236/","biology":"Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide. Does not exhibit calcium-activated chloride channel (CaCC) activity. May play a role in cell-cell interactions. Location: Cell membrane; Cell junction; Endoplasmic reticulum; Cytoplasm, cytosol (UniProt). Locus 2q37.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.57 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"ap3b1","kind":"target","name":"AP3B1","aka":["adaptor related protein complex 3 subunit beta 1","AP-3 complex subunit beta-1","ADTB3A","HPS2"],"tldr":"AP3B1 (AP-3 complex subunit beta-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes affected pathway 0.89, literature 0.19, genetic association 0.00, somatic mutation 0.23, animal model 0.48).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:566","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:566"},{"label":"UniProt O00203","url":"https://www.uniprot.org/uniprotkb/O00203/entry"},{"label":"NCBI Gene 8546","url":"https://www.ncbi.nlm.nih.gov/gene/8546"},{"label":"Ensembl ENSG00000132842","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132842"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AP3B1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:566","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:566","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00203","url":"https://www.uniprot.org/uniprotkb/O00203/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000132842","url":"https://platform.opentargets.org/target/ENSG00000132842/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:566","ensembl":"ENSG00000132842","uniprot":"O00203","entrez":"8546","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Simpson et al, J. Cell Biol, 1997, \"Characterization of the adaptor-related protein complex, AP-3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9151686/","biology":"Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. Location: Cytoplasmic vesicle, clathrin-coated vesicle membrane; Golgi apparatus (UniProt). Locus 5q14.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"apbb1ip","kind":"target","name":"APBB1IP","aka":["amyloid beta precursor protein binding family B member 1 interacting protein","Amyloid beta A4 precursor protein-binding family B member 1-interacting protein","RARP1","PREL1","INAG1"],"tldr":"APBB1IP (Amyloid beta A4 precursor protein-binding family B member 1-interacting protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.79, affected pathway 0.97, animal model 0.50, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17379","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17379"},{"label":"UniProt Q7Z5R6","url":"https://www.uniprot.org/uniprotkb/Q7Z5R6/entry"},{"label":"NCBI Gene 54518","url":"https://www.ncbi.nlm.nih.gov/gene/54518"},{"label":"Ensembl ENSG00000077420","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077420"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"APBB1IP","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17379","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17379","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z5R6","url":"https://www.uniprot.org/uniprotkb/Q7Z5R6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000077420","url":"https://platform.opentargets.org/target/ENSG00000077420/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17379","ensembl":"ENSG00000077420","uniprot":"Q7Z5R6","entrez":"54518","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Inagaki et al, J. Biol. Chem, 2003, \"The retinoic acid-responsive proline-rich protein is identified in promyeloleukemic HL-60 cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14530287/","biology":"Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion. Location: Cell membrane; Cell projection, lamellipodium; Cell junction, focal adhesion; Cytoplasm, cytoskeleton (UniProt). Locus 10p12.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"apc","kind":"target","name":"APC","aka":["APC regulator of Wnt signaling pathway","Adenomatous polyposis coli protein","DP2","DP3","DP2.5","PPP1R46"],"tldr":"APC (Adenomatous polyposis coli protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Hepatocellular carcinoma and 5 more.","summary":"Tumour suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signalling as a negative regulator. APC activity is correlated with its phosphorylation state.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 2 variants, naming JW55, G007-LK, Nirogacestat and Regorafenib. Open Targets scores its association with cancer at 0.91 (direct and indirect evidence; datatypes genetic literature 0.79, affected pathway 0.86, literature 1.00, genetic association 0.90, somatic mutation 0.97, animal model 0.88). IntOGen calls it a driver in 43 cohorts (2 activating, 41 loss-of-function), covering Acute Myeloid Leukaemia, Anal Squamous Cell Carcinoma, Cholangiocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Cutaneous Squamous Cell Carcinoma and others. In OnCo, 1 product record names it (Nirogacestat).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:583"},{"label":"UniProt P25054","url":"https://www.uniprot.org/uniprotkb/P25054/entry"},{"label":"NCBI Gene 324","url":"https://www.ncbi.nlm.nih.gov/gene/324"},{"label":"Ensembl ENSG00000134982","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134982"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","gastric","hcc","prostate","esophageal","biliary-tract-cancer","anal","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":["nirogacestat"],"companies":[],"institutions":[],"pathways":["colorectal-cancer-signalling","gastric-cancer-signalling","mitotic-spindle-checkpoint","wnt"],"terms":["driver-mutation"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-colorectal-comprehensive-characterization-nature-2012","paper-yaeger-metastatic-colorectal-genomic-landscape-cancer-cell-2018","paper-seshagiri-rspo-fusions-colon-nature-2012","paper-robinson-integrative-clinical-genomics-advanced-prostate-cell-2015","paper-stopsack-mcspc-genomic-alterations-outcomes-ccr-2020"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 41 cohorts; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: mutated in 58 to 77% by cohort, with deep deletion and intronic splice disruption on top (cBioPortal). It is the gatekeeper of the conventional adenoma-carcinoma sequence, the first hit in the 1988 staging series (Vogelstein 1988), and the WNT pathway it guards is altered in 93% of tumours in the TCGA analysis and 96% once intronic APC splice events and large in-frame CTNNB1 deletions are counted (Yaeger 2018). Where APC is intact the pathway is usually broken by RNF43, AXIN2, CTNNB1 or an RSPO fusion instead (Seshagiri 2012). APC is less often mutated on the right (65.0% against 77.6%) and in mismatch repair deficient tumours."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"APC","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:583","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25054","url":"https://www.uniprot.org/uniprotkb/P25054/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene APC","url":"https://civicdb.org/features/66","note":"5 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Colon Carcinoma, Desmoid Tumour (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000134982","url":"https://platform.opentargets.org/target/ENSG00000134982/associations","note":"association with cancer (MONDO_0004992) 0.91; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.56, colorectal cancer 0.86, gastric cancer 0.81, oesophageal cancer 0.55, hepatocellular carcinoma 0.74, prostate cancer 0.65 (GraphQL API, CC0)"},{"label":"IntOGen APC","url":"https://www.intogen.org/search?gene=APC","note":"driver in 43 cohorts (Act 2, LoF 41); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (Nirogacestat), an alteration absent from normal cells. HPA APC: RNA tissue enhanced (brain 39 nTPM); high antibody staining in 14 normal tissues; highest cancer staining prostate cancer (6 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Hepatocellular carcinoma, Prostate cancer, Oesophageal cancer, Biliary tract cancer (all types), Anal cancer (squamous cell carcinoma) and more); Open Targets associates it with 22 specific cancer types at or above 0.5 (familial adenomatous polyposis 1, classic familial adenomatous polyposis, colorectal cancer, gastric adenocarcinoma and proximal polyposis of the stomach, colon carcinoma, colorectal adenocarcinoma and more). (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"FDA label (DailyMed)","url":"https://dailymed.nlm.nih.gov/dailymed/search.cfm?query=Nirogacestat"},{"label":"Human Protein Atlas APC tissue","url":"https://www.proteinatlas.org/ENSG00000134982-APC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000134982 associations","url":"https://platform.opentargets.org/target/ENSG00000134982/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:583","ensembl":"ENSG00000134982","uniprot":"P25054","entrez":"324","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Joslyn et al, Cell, 1991, \"Identification of deletion mutations and three new genes at the familial polyposis locus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1678319/","biology":"Tumour suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signalling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signalling pathway in colorectal tumour cells. Location: Cell junction, adherens junction; Cytoplasm, cytoskeleton; Cell projection, lamellipodium; Cell projection, ruffle membrane (UniProt). Locus 5q22.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.86 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.81 with gastric cancer (MONDO_0001056); IntOGen driver in 6 cohorts (EGC, STAD, STOMACH)","Hepatocellular carcinoma: Open Targets association 0.74 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 2 cohorts (HCC)","Prostate cancer: Open Targets association 0.65 with prostate cancer (MONDO_0008315); IntOGen driver in 7 cohorts (PRAD, PROSTATE)","Oesophageal cancer: Open Targets association 0.55 with oesophageal cancer (MONDO_0007576); IntOGen driver in 4 cohorts (ESCA, ESCC)","Biliary tract cancer: Open Targets association 0.58 with biliary tract cancer (MONDO_0003060)","Colorectal cancer: inactivating mutation (wnt pathway gatekeeper) 58-77%","Prostate cancer: activating ctnnb1 exon 3 mutation, or apc inactivation 2-10% depending on disease state"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"colorectal","pct":"58-77","measure":"Inactivating mutation (WNT pathway gatekeeper)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 5,400 of 7,237, 74.6%, in crc_msk_2026; 867 of 1,134, 76.5%, in crc_msk_2017; 1,145 of 1,516, 75.5%, in crc_eo_2020; 387 of 534, 72.5%, in coadread_tcga_pan_can_atlas_2018; 168 of 224, 75.0%, in coadread_tcga_pub; 361 of 619, 58.3%, in coadread_dfci_2016; 451 of 1,015, 44.4%, in crc_sysucc_2022. Deep deletion adds 40 of 7,237 (crc_msk_2026) and 18 of 592 (TCGA), and structural variants disrupt APC in a further 54 of 7,237 samples. The TCGA analysis found WNT signalling altered in 93% of tumours (Cancer Genome Atlas Network 2012); adding intronic APC splice alterations and large in-frame CTNNB1 deletions took oncogenic WNT alterations to 96% of 1,134 prospectively sequenced cancers (Yaeger 2018)."},{"cancerId":"prostate","pct":"2-10","measure":"Activating CTNNB1 exon 3 mutation, or APC inactivation","source":"https://www.cbioportal.org/study/summary?id=prostate_msk_2024","note":"cBioPortal mutation: CTNNB1 89 of 2,260, 3.9%, in prostate_msk_2024; 23 of 424, 5.4%, in prad_mcspc_mskcc_2020; 19 of 444, 4.3%, in prad_su2c_2019; 11 of 494, 2.2%, in prad_tcga_pan_can_atlas_2018. APC mutation 176 of 2,260, 7.8%, in prostate_msk_2024; 36 of 424, 8.5%, in prad_mcspc_mskcc_2020; 31 of 444, 7.0%, in prad_su2c_2019, with deep deletion adding 1 to 10%. The CTNNB1 records cluster on the degron: in prostate_msk_2024, S37F 9, T41A 9, D32Y 7, T41I 7, S45P 6 of 94 records."}]},{"id":"aph1a","kind":"target","name":"APH1A","aka":["aph-1A gamma-secretase subunit","Gamma-secretase subunit APH-1A","APH-1A","CGI-78"],"tldr":"APH1A (Gamma-secretase subunit APH-1A) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.","summary":"Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Required for normal gamma-secretase assembly. The gamma-secretase complex plays a role in Notch and Wnt signalling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29509"},{"label":"UniProt Q96BI3","url":"https://www.uniprot.org/uniprotkb/Q96BI3/entry"},{"label":"NCBI Gene 51107","url":"https://www.ncbi.nlm.nih.gov/gene/51107"},{"label":"Ensembl ENSG00000117362","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000117362"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["desmoid-tumour"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.83. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"APH1A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:29509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29509","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96BI3","url":"https://www.uniprot.org/uniprotkb/Q96BI3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000117362","url":"https://platform.opentargets.org/target/ENSG00000117362/associations","note":"per-cancer scores at or above 0.5: desmoid tumour 0.50 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA APH1A: RNA low tissue specificity; high antibody staining in 30 normal tissues; highest cancer staining carcinoid (4 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (desmoid tumor). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas APH1A tissue","url":"https://www.proteinatlas.org/ENSG00000117362-APH1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000117362 associations","url":"https://platform.opentargets.org/target/ENSG00000117362/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29509","ensembl":"ENSG00000117362","uniprot":"Q96BI3","entrez":"51107","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lai C.-H. et al, Genome Res, 2000, \"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10810093/","biology":"Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Required for normal gamma-secretase assembly. The gamma-secretase complex plays a role in Notch and Wnt signalling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. Location: Endoplasmic reticulum membrane; Golgi apparatus, Golgi stack membrane (UniProt). Locus 1q21.2 (HGNC).","whereFound":["Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)"],"targetClass":"other","prevalence":[]},{"id":"aph1b","kind":"target","name":"APH1B","aka":["aph-1B gamma-secretase subunit","Gamma-secretase subunit APH-1B","APH-1B","DKFZp564D0372"],"tldr":"APH1B (Gamma-secretase subunit APH-1B) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.","summary":"Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilising cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24080","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24080"},{"label":"UniProt Q8WW43","url":"https://www.uniprot.org/uniprotkb/Q8WW43/entry"},{"label":"NCBI Gene 83464","url":"https://www.ncbi.nlm.nih.gov/gene/83464"},{"label":"Ensembl ENSG00000138613","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138613"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["desmoid-tumour"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.83. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"APH1B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:24080","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24080","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WW43","url":"https://www.uniprot.org/uniprotkb/Q8WW43/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138613","url":"https://platform.opentargets.org/target/ENSG00000138613/associations","note":"per-cancer scores at or above 0.5: desmoid tumour 0.50 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA APH1B: RNA tissue enriched (testis 111 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (desmoid tumor). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas APH1B tissue","url":"https://www.proteinatlas.org/ENSG00000138613-APH1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138613 associations","url":"https://platform.opentargets.org/target/ENSG00000138613/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:24080","ensembl":"ENSG00000138613","uniprot":"Q8WW43","entrez":"83464","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wiemann et al, Genome Res, 2001, \"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11230166/","biology":"Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilising cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A. Location: Membrane (UniProt). Locus 15q22.2 (HGNC).","whereFound":["Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)"],"targetClass":"other","prevalence":[]},{"id":"apobec3b","kind":"target","name":"APOBEC3B","aka":["apolipoprotein B mRNA editing enzyme catalytic subunit 3B","DNA dC->dU-editing enzyme APOBEC-3B","PHRBNL","FLJ21201"],"tldr":"APOBEC3B (DNA dC->dU-editing enzyme APOBEC-3B) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer.","summary":"DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.24, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17352","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17352"},{"label":"UniProt Q9UH17","url":"https://www.uniprot.org/uniprotkb/Q9UH17/entry"},{"label":"NCBI Gene 9582","url":"https://www.ncbi.nlm.nih.gov/gene/9582"},{"label":"Ensembl ENSG00000179750","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000179750"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"APOBEC3B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17352","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17352","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UH17","url":"https://www.uniprot.org/uniprotkb/Q9UH17/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000179750","url":"https://platform.opentargets.org/target/ENSG00000179750/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: skin cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17352","ensembl":"ENSG00000179750","uniprot":"Q9UH17","entrez":"9582","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Madsen P.P. et al, J. Invest. Dermatol, 1999, \"Psoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10469298/","biology":"DNA deaminase (cytidine deaminase) which acts as an inhibitor of retrovirus replication and retrotransposon mobility via deaminase-dependent and -independent mechanisms. After the penetration of retroviral nucleocapsids into target cells of infection and the initiation of reverse transcription, it can induce the conversion of cytosine to uracil in the minus-sense single-strand viral DNA, leading to G-to-A hypermutations in the subsequent plus-strand viral DNA. The resultant detrimental levels of mutations in the proviral genome, along with a deamination-independent mechanism that works prior to the proviral integration, together exert efficient antiretroviral effects in infected target cells. Selectively targets single-stranded DNA and does not deaminate double-stranded DNA or single- or double-stranded RNA. Exhibits antiviral activity against simian immunodeficiency virus (SIV), hepatitis B virus (HBV) and human T-cell leukaemia virus type 1 (HTLV-1) and may inhibit the mobility of LTR and non-LTR retrotransposons. Location: Nucleus (UniProt). Locus 22q13.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)"],"targetClass":"enzyme","prevalence":[]},{"id":"apoe","kind":"target","name":"APOE","aka":["apolipoprotein E","Apolipoprotein E","AD2"],"tldr":"APOE (Apolipoprotein E) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance. Apolipoproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.99, animal model 0.50, genetic association 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:613","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:613"},{"label":"UniProt P02649","url":"https://www.uniprot.org/uniprotkb/P02649/entry"},{"label":"NCBI Gene 348","url":"https://www.ncbi.nlm.nih.gov/gene/348"},{"label":"Ensembl ENSG00000130203","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130203"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"APOE","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:613","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:613","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02649","url":"https://www.uniprot.org/uniprotkb/P02649/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000130203","url":"https://platform.opentargets.org/target/ENSG00000130203/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:613","ensembl":"ENSG00000130203","uniprot":"P02649","entrez":"348","firstDescribed":1982,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Breslow J.L. et al, J. Biol. Chem, 1982, \"Identification and DNA sequence of a human apolipoprotein E cDNA clone\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6897404/","biology":"APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance. Apolipoproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma. As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL) but shows a preferential binding to high-density lipoproteins (HDL). It also binds a wide range of cellular receptors including the LDL receptor/LDLR, the LDL receptor-related proteins LRP1, LRP2 and LRP8 and the very low-density lipoprotein receptor/VLDLR that mediate the cellular uptake of the APOE-containing lipoprotein particles. Finally, APOE also has a heparin-binding activity and binds heparan-sulfate proteoglycans on the surface of cells, a property that supports the capture and the receptor-mediated uptake of APOE-containing lipoproteins by cells. Location: Secreted; Secreted, extracellular space; Secreted, extracellular space, extracellular matrix; Extracellular vesicle (UniProt). Locus 19q13.32 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"araf","kind":"target","name":"ARAF","aka":["A-Raf proto-oncogene, serine/threonine kinase","Serine/threonine-protein kinase A-Raf","A-Raf","ARAF1"],"tldr":"ARAF (Serine/threonine-protein kinase A-Raf) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Colorectal cancer, Langerhans cell histiocytosis and 4 more.","summary":"Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signalling cascade. Phosphorylates PFKFB2.\n\nCIViC holds 10 clinical evidence items and 1 assertion across 8 variants, naming Sorafenib, Cobimetinib, Vemurafenib and Cetuximab and others. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes clinical 0.17, affected pathway 0.88, literature 0.94, genetic association 0.00, somatic mutation 0.46, animal model 0.43). IntOGen calls it a driver in 3 cohorts (3 activating, 0 loss-of-function), covering Cholangiocarcinoma, Lung Adenocarcinoma, Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:646","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:646"},{"label":"UniProt P10398","url":"https://www.uniprot.org/uniprotkb/P10398/entry"},{"label":"NCBI Gene 369","url":"https://www.ncbi.nlm.nih.gov/gene/369"},{"label":"Ensembl ENSG00000078061","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000078061"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","colorectal","langerhans-cell-histiocytosis","nsclc","erdheim-chester-disease","cholangiocarcinoma","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.17; IntOGen calls it an activating (Act) driver in 3 cohorts; CIViC holds 10 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARAF","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:646","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:646","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10398","url":"https://www.uniprot.org/uniprotkb/P10398/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARAF","url":"https://civicdb.org/features/3","note":"10 evidence items, 1 assertions, 8 variants; diseases: Lung Non-small Cell Carcinoma, Lung Cancer, Colorectal Cancer, Langerhans-cell Histiocytosis, Erdheim-Chester Disease (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000078061","url":"https://platform.opentargets.org/target/ENSG00000078061/associations","note":"association with cancer (MONDO_0004992) 0.66;  (GraphQL API, CC0)"},{"label":"IntOGen ARAF","url":"https://www.intogen.org/search?gene=ARAF","note":"driver in 3 cohorts (Act 3, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ARAF: RNA low tissue specificity; high antibody staining in 10 normal tissues; highest cancer staining cervical cancer (3 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Colorectal cancer, Langerhans cell histiocytosis (LCH), Erdheim-Chester disease, Rosai-Dorfman disease and other histiocytic neoplasms, Biliary tract cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P10398","url":"https://www.uniprot.org/uniprotkb/P10398/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARAF","url":"https://civicdb.org/features/3","note":"10 evidence items, 1 assertions, 8 variants; diseases: Lung Non-small Cell Carcinoma, Lung Cancer, Colorectal Cancer, Langerhans-cell Histiocytosis, Erdheim-Chester Disease (GraphQL API, CC0)"},{"label":"IntOGen ARAF","url":"https://www.intogen.org/search?gene=ARAF","note":"driver in 3 cohorts (Act 3, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ARAF tissue","url":"https://www.proteinatlas.org/ENSG00000078061-ARAF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000078061 associations","url":"https://platform.opentargets.org/target/ENSG00000078061/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:646","ensembl":"ENSG00000078061","uniprot":"P10398","entrez":"369","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mark G.E. et al, Proc. Natl. Acad. Sci. U.S.A, 1986, \"Pks, a raf-related sequence in humans\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3529082/","biology":"Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signalling cascade. Phosphorylates PFKFB2. Serves as a positive regulator of myogenic differentiation by inducing cell cycle arrest, the expression of myogenin and other muscle-specific proteins, and myotube formation. Locus Xp11.3 (HGNC).","whereFound":["Lung cancer: CIViC evidence names this disease","Colorectal cancer: CIViC evidence names this disease","Langerhans cell histiocytosis: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease; IntOGen driver in 1 cohort (LUAD)","Erdheim-Chester disease: CIViC evidence names this disease","Biliary tract cancer: IntOGen driver in 1 cohort (CHOL)"],"targetClass":"kinase","prevalence":[]},{"id":"areg","kind":"target","name":"AREG","aka":["amphiregulin","Amphiregulin","CRDGF","AREGB"],"tldr":"AREG (Amphiregulin) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Head and neck squamous cell carcinoma and Non-small-cell lung cancer.","summary":"Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 2 variants, naming Crizotinib, Cetuximab, Panitumumab and Docetaxel. Open Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.73, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:651","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:651"},{"label":"UniProt P15514","url":"https://www.uniprot.org/uniprotkb/P15514/entry"},{"label":"NCBI Gene 374","url":"https://www.ncbi.nlm.nih.gov/gene/374"},{"label":"Ensembl ENSG00000109321","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109321"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","head-and-neck","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AREG","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:651","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:651","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15514","url":"https://www.uniprot.org/uniprotkb/P15514/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene AREG","url":"https://civicdb.org/features/389","note":"5 evidence items, 0 assertions, 2 variants; diseases: Lung Non-small Cell Carcinoma, Colorectal Cancer, Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000109321","url":"https://platform.opentargets.org/target/ENSG00000109321/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA AREG: RNA tissue enhanced (bone marrow 123 nTPM, placenta 309 nTPM, urinary bladder 136 nTPM); blood lineage group enriched (granulocytes 12 nTPM, NK-cells 4 nTPM); high antibody staining in 1 normal tissue. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Head and neck squamous cell carcinoma, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas AREG tissue","url":"https://www.proteinatlas.org/ENSG00000109321-AREG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000109321 associations","url":"https://platform.opentargets.org/target/ENSG00000109321/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:651","ensembl":"ENSG00000109321","uniprot":"P15514","entrez":"374","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shoyab et al, Proc. Natl. Acad. Sci. U.S.A, 1988, \"Amphiregulin: a bifunctional growth-modulating glycoprotein produced by the phorbol 12-myristate 13-acetate-treated human breast adenocarcinoma cell line MCF-7\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3413110/","biology":"Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts. Location: Membrane (UniProt). Locus 4q13.3 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Head and neck squamous cell carcinoma: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"arhgap26","kind":"target","name":"ARHGAP26","aka":["Rho GTPase activating protein 26","Rho GTPase-activating protein 26","KIAA0621","OPHN1L","OPHN1L1"],"tldr":"ARHGAP26 (Rho GTPase-activating protein 26) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Gastric & gastro-oesophageal junction cancer, Breast cancer, Leukaemia and 2 more.","summary":"GTPase-activating protein for RHOA and CDC42. Facilitates mitochondrial quality control by promoting Parkin-mediated recruitment of autophagosomes to damaged mitochondria. Negatively regulates the growth of human parainfluenza virus type 2 by inhibiting hPIV-2-mediated RHOA activation via interaction with two of its viral proteins P and V.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.92, genetic association 0.51, somatic mutation 0.90, animal model 0.32).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17073","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17073"},{"label":"UniProt Q9UNA1","url":"https://www.uniprot.org/uniprotkb/Q9UNA1/entry"},{"label":"NCBI Gene 23092","url":"https://www.ncbi.nlm.nih.gov/gene/23092"},{"label":"Ensembl ENSG00000145819","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145819"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["gastric","breast-cancer","leukaemia","myeloproliferative-neoplasms","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARHGAP26","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17073","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17073","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UNA1","url":"https://www.uniprot.org/uniprotkb/Q9UNA1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000145819","url":"https://platform.opentargets.org/target/ENSG00000145819/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: gastric cancer 0.55, skin cancer 0.51, myeloproliferative neoplasm 0.52, breast cancer 0.54, leukaemia 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17073","ensembl":"ENSG00000145819","uniprot":"Q9UNA1","entrez":"23092","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ishikawa et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9734811/","biology":"GTPase-activating protein for RHOA and CDC42. Facilitates mitochondrial quality control by promoting Parkin-mediated recruitment of autophagosomes to damaged mitochondria. Negatively regulates the growth of human parainfluenza virus type 2 by inhibiting hPIV-2-mediated RHOA activation via interaction with two of its viral proteins P and V. Associates with MICAL1 on the endosomal membrane to promote Rab8-Rab10-dependent tubule extension. After dissociation of MICAL1, recruits WDR44 which connects the endoplasmic reticulum (ER) with the endosomal tubule, thereby participating in the export of a subset of neosynthesised proteins. Location: Endosome membrane; Cytoplasm; Cell junction, focal adhesion; Cytoplasm, cytoskeleton (UniProt). Locus 5q31.3 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.55 with gastric cancer (MONDO_0001056)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.52 with myeloproliferative neoplasm (MONDO_0020076)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)"],"targetClass":"other","prevalence":[]},{"id":"arhgap35","kind":"target","name":"ARHGAP35","aka":["Rho GTPase activating protein 35","Rho GTPase-activating protein 35","GRF-1","p190ARhoGAP","P190A","KIAA1722","p190RhoGAP","GRLF1"],"tldr":"ARHGAP35 (Rho GTPase-activating protein 35) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Bladder & urothelial cancer, Breast cancer and 5 more.","summary":"Rho GTPase-activating protein (GAP). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity. This binding is inhibited by phosphorylation by PRKCA.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 4 variants. Open Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes literature 0.93, animal model 0.46, genetic association 0.00, somatic mutation 0.90). IntOGen calls it a driver in 15 cohorts (1 activating, 14 loss-of-function), covering Acute Myeloid Leukaemia, Basal Cell Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Lung Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4591"},{"label":"UniProt Q9NRY4","url":"https://www.uniprot.org/uniprotkb/Q9NRY4/entry"},{"label":"NCBI Gene 2909","url":"https://www.ncbi.nlm.nih.gov/gene/2909"},{"label":"Ensembl ENSG00000160007","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160007"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["endometrial","urothelial","breast-cancer","rcc","ovarian","skin-cancer","lung-cancer","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 14 cohorts; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARHGAP35","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4591","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NRY4","url":"https://www.uniprot.org/uniprotkb/Q9NRY4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARHGAP35","url":"https://civicdb.org/features/2438","note":"4 evidence items, 0 assertions, 4 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000160007","url":"https://platform.opentargets.org/target/ENSG00000160007/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: endometrial cancer 0.61, melanoma 0.56, skin cancer 0.56, breast cancer 0.57, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ARHGAP35","url":"https://www.intogen.org/search?gene=ARHGAP35","note":"driver in 15 cohorts (Act 1, LoF 14); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ARHGAP35: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining breast cancer (5 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Endometrial cancer, Bladder & urothelial cancer, Breast cancer (all types), Renal cell carcinoma, Ovarian cancer, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (endometrial cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9NRY4","url":"https://www.uniprot.org/uniprotkb/Q9NRY4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARHGAP35","url":"https://civicdb.org/features/2438","note":"4 evidence items, 0 assertions, 4 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen ARHGAP35","url":"https://www.intogen.org/search?gene=ARHGAP35","note":"driver in 15 cohorts (Act 1, LoF 14); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ARHGAP35 tissue","url":"https://www.proteinatlas.org/ENSG00000160007-ARHGAP35/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000160007 associations","url":"https://platform.opentargets.org/target/ENSG00000160007/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4591","ensembl":"ENSG00000160007","uniprot":"Q9NRY4","entrez":"2909","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: LeClerc et al, J. Biol. Chem, 1991, \"Molecular cloning and characterization of a factor that binds the human glucocorticoid receptor gene and represses its expression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1894621/","biology":"Rho GTPase-activating protein (GAP). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity. This binding is inhibited by phosphorylation by PRKCA. Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis. Transduces signals from p21-ras to the nucleus, acting via the ras GTPase-activating protein (GAP). Transduces SRC-dependent signals from cell-surface adhesion molecules, such as laminin, to promote neurite outgrowth. Location: Cytoplasm, cytoskeleton, cilium basal body; Cytoplasm; Nucleus; Cell membrane (UniProt). Locus 19q13.32 (HGNC).","whereFound":["Endometrial cancer: Open Targets association 0.61 with endometrial cancer (MONDO_0011962); IntOGen driver in 4 cohorts (UCEC)","Bladder & urothelial cancer: IntOGen driver in 3 cohorts (BLCA, UTUC)","Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},{"id":"arhgap5","kind":"target","name":"ARHGAP5","aka":["Rho GTPase activating protein 5","Rho GTPase-activating protein 5","RhoGAP5","p190-B","p190BRhoGAP","GFI2"],"tldr":"ARHGAP5 (Rho GTPase-activating protein 5) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Multiple myeloma, Pancreatic ductal adenocarcinoma and 4 more.","summary":"GTPase-activating protein for Rho family members.\n\nIntOGen calls it a driver in 7 cohorts (3 activating, 4 loss-of-function), covering Bladder Urothelial Carcinoma, Pancreatic Adenocarcinoma, Plasma Cell Myeloma, Pleural Mesothelioma, Well-Differentiated Thyroid Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:675","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:675"},{"label":"UniProt Q13017","url":"https://www.uniprot.org/uniprotkb/Q13017/entry"},{"label":"NCBI Gene 394","url":"https://www.ncbi.nlm.nih.gov/gene/394"},{"label":"Ensembl ENSG00000100852","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100852"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["urothelial","multiple-myeloma","pancreatic","mesothelioma","thyroid","pleural-mesothelioma","papillary-thyroid-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARHGAP5","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:675","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:675","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13017","url":"https://www.uniprot.org/uniprotkb/Q13017/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ARHGAP5","url":"https://www.intogen.org/search?gene=ARHGAP5","note":"driver in 7 cohorts (Act 3, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:675","ensembl":"ENSG00000100852","uniprot":"Q13017","entrez":"394","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Burbelo P.D. et al, J. Biol. Chem, 1995, \"p190-B, a new member of the Rho GAP family, and Rho are induced to cluster after integrin cross-linking\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8537347/","biology":"GTPase-activating protein for Rho family members. Location: Cytoplasm; Cell membrane (UniProt). Locus 14q12 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 2 cohorts (BLCA)","Multiple myeloma: IntOGen driver in 2 cohorts (PCM)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"arhgef10","kind":"target","name":"ARHGEF10","aka":["Rho guanine nucleotide exchange factor 10","KIAA0294","Gef10"],"tldr":"ARHGEF10 (Rho guanine nucleotide exchange factor 10) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Cutaneous squamous cell carcinoma, Non-small-cell lung cancer and 1 more.","summary":"May play a role in developmental myelination of peripheral nerves.\n\nIntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Bladder Urothelial Carcinoma, Cutaneous Squamous Cell Carcinoma, Non-Small Cell Lung Cancer, Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14103","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14103"},{"label":"UniProt O15013","url":"https://www.uniprot.org/uniprotkb/O15013/entry"},{"label":"NCBI Gene 9639","url":"https://www.ncbi.nlm.nih.gov/gene/9639"},{"label":"Ensembl ENSG00000104728","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104728"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["urothelial","cutaneous-scc","nsclc","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARHGEF10","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14103","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14103","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15013","url":"https://www.uniprot.org/uniprotkb/O15013/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ARHGEF10","url":"https://www.intogen.org/search?gene=ARHGEF10","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14103","ensembl":"ENSG00000104728","uniprot":"O15013","entrez":"9639","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9205841/","biology":"May play a role in developmental myelination of peripheral nerves. Locus 8p23.3 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Cutaneous squamous cell carcinoma: IntOGen driver in 1 cohort (CSCC)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (NSCLC)","Small-cell lung cancer: IntOGen driver in 1 cohort (SCLC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"arhgef10l","kind":"target","name":"ARHGEF10L","aka":["Rho guanine nucleotide exchange factor 10 like","Rho guanine nucleotide exchange factor 10-like protein","FLJ10521","KIAA1626"],"tldr":"ARHGEF10L (Rho guanine nucleotide exchange factor 10-like protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Renal cell carcinoma, Basal cell carcinoma and Clear cell renal cell carcinoma.","summary":"Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Basal Cell Carcinoma, Renal Clear Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25540","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25540"},{"label":"UniProt Q9HCE6","url":"https://www.uniprot.org/uniprotkb/Q9HCE6/entry"},{"label":"NCBI Gene 55160","url":"https://www.ncbi.nlm.nih.gov/gene/55160"},{"label":"Ensembl ENSG00000074964","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000074964"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["rcc","basal-cell-carcinoma","clear-cell-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARHGEF10L","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:25540","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25540","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HCE6","url":"https://www.uniprot.org/uniprotkb/Q9HCE6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ARHGEF10L","url":"https://www.intogen.org/search?gene=ARHGEF10L","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:25540","ensembl":"ENSG00000074964","uniprot":"Q9HCE6","entrez":"55160","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10997877/","biology":"Acts as a guanine nucleotide exchange factor (GEF) for RHOA, RHOB and RHOC. Location: Cytoplasm (UniProt). Locus 1p36.13 (HGNC).","whereFound":["Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Basal cell carcinoma: IntOGen driver in 1 cohort (BCC)","Clear cell renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"arhgef12","kind":"target","name":"ARHGEF12","aka":["Rho guanine nucleotide exchange factor 12","KIAA0382"],"tldr":"ARHGEF12 (Rho guanine nucleotide exchange factor 12) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Renal cell carcinoma, Skin cancer and 5 more.","summary":"Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Promotes endothelial cell and actin stress fibre reorientation in response to mechanotransduction.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.16, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Invasive Breast Carcinoma, Renal Clear Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14193","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14193"},{"label":"UniProt Q9NZN5","url":"https://www.uniprot.org/uniprotkb/Q9NZN5/entry"},{"label":"NCBI Gene 23365","url":"https://www.ncbi.nlm.nih.gov/gene/23365"},{"label":"Ensembl ENSG00000196914","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196914"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","rcc","skin-cancer","colorectal","lung-cancer","gastric","clear-cell-rcc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARHGEF12","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14193","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14193","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZN5","url":"https://www.uniprot.org/uniprotkb/Q9NZN5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196914","url":"https://platform.opentargets.org/target/ENSG00000196914/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: colorectal cancer 0.52, gastric cancer 0.51, melanoma 0.52, skin cancer 0.57, breast cancer 0.54, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ARHGEF12","url":"https://www.intogen.org/search?gene=ARHGEF12","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14193","ensembl":"ENSG00000196914","uniprot":"Q9NZN5","entrez":"23365","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9205841/","biology":"Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Promotes endothelial cell and actin stress fibre reorientation in response to mechanotransduction. Location: Cytoplasm; Membrane (UniProt). Locus 11q23.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"arhgef5","kind":"target","name":"ARHGEF5","aka":["Rho guanine nucleotide exchange factor 5","TIM1","GEF5","P60"],"tldr":"ARHGEF5 (Rho guanine nucleotide exchange factor 5) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Guanine nucleotide exchange factor which activates Rho GTPases. Strongly activates RHOA. Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.82, genetic association 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13209","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13209"},{"label":"UniProt Q12774","url":"https://www.uniprot.org/uniprotkb/Q12774/entry"},{"label":"NCBI Gene 7984","url":"https://www.ncbi.nlm.nih.gov/gene/7984"},{"label":"Ensembl ENSG00000050327","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000050327"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARHGEF5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13209","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13209","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12774","url":"https://www.uniprot.org/uniprotkb/Q12774/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000050327","url":"https://platform.opentargets.org/target/ENSG00000050327/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: breast cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:13209","ensembl":"ENSG00000050327","uniprot":"Q12774","entrez":"7984","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chan A.M.-L. et al, Oncogene, 1994, \"Expression cDNA cloning of a novel oncogene with sequence similarity to regulators of small GTP-binding proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8134109/","biology":"Guanine nucleotide exchange factor which activates Rho GTPases. Strongly activates RHOA. Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1. Involved in regulation of cell shape and actin cytoskeletal organisation. Plays a role in actin organisation by generating a loss of actin stress fibres and the formation of membrane ruffles and filopodia. Required for SRC-induced podosome formation. Location: Cytoplasm; Nucleus; Cell projection, podosome (UniProt). Locus 7q35 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.50 with breast cancer (MONDO_0007254)"],"targetClass":"other","prevalence":[]},{"id":"arid1a","kind":"target","name":"ARID1A","aka":["AT-rich interaction domain 1A","AT-rich interactive domain-containing protein 1A","B120","P270","C10rf4","BAF250","BAF250a","C1orf4","SMARCF1"],"tldr":"ARID1A (AT-rich interactive domain-containing protein 1A) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Colorectal cancer, Endometrial cancer and 5 more.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically.\n\nCIViC holds 14 clinical evidence items and 0 assertions across 7 variants, naming Dasatinib, Sorafenib, Nivolumab and Pembrolizumab and others. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes literature 1.00, affected pathway 0.89, genetic association 0.57, somatic mutation 0.98). IntOGen calls it a driver in 90 cohorts (1 activating, 89 loss-of-function), covering Burkitt Lymphoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cervical Squamous Cell Carcinoma, Cholangiocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11110","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11110"},{"label":"UniProt O14497","url":"https://www.uniprot.org/uniprotkb/O14497/entry"},{"label":"NCBI Gene 8289","url":"https://www.ncbi.nlm.nih.gov/gene/8289"},{"label":"Ensembl ENSG00000117713","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000117713"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","colorectal","endometrial","gastric","breast-cancer","lung-cancer","hcc","non-hodgkin-lymphoma","pancreatic","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["swi-snf-chromatin"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-sausen-ctdna-pancreatic-resection-nat-commun-2015","paper-biankin-pancreatic-exomes-axon-guidance-nature-2012","paper-tcga-pancreatic-integrated-characterisation-cancer-cell-2017","paper-javle-biliary-ngs-cancer-2016","paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","paper-narayan-gallbladder-regional-mutations-cancer-2019","paper-wardell-biliary-drivers-germline-j-hepatol-2018"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 6 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 89 cohorts; CIViC holds 14 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Ovarian Clear Cell Carcinoma; Ovarian Clear Cell Adenocarcinoma; Low-Grade Glioma, NOS.","Pancreatic ductal adenocarcinoma: inactivating mutations in 5 to 9%, alongside KMT2C, KMT2D, SMARCA4, PBRM1 and ARID2 (cBioPortal). Chromatin-regulating gene mutations were present in about 20% of patients and associated with improved survival (Sausen 2015); ARID1A was among the significantly mutated genes of the first exome cohorts (Biankin 2012, Cancer Genome Atlas 2017).","Colorectal cancer: inactivating mutation in 9 to 13%, named a new driver by the TCGA analysis (Cancer Genome Atlas Network 2012), and overwhelmingly a hypermutated-class event (65.2% of MSI-high against 6.3% of microsatellite-stable samples in crc_msk_2026), alongside KMT2D and KMT2C."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARID1A","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11110","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11110","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14497","url":"https://www.uniprot.org/uniprotkb/O14497/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARID1A","url":"https://civicdb.org/features/6559","note":"14 evidence items, 0 assertions, 7 variants; diseases: Ovarian Clear Cell Carcinoma, Colorectal Cancer, Ovarian Cancer, Stomach Cancer, Diffuse Large B-cell Lymphoma and 4 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000117713","url":"https://platform.opentargets.org/target/ENSG00000117713/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.65, colorectal cancer 0.74, gastric cancer 0.69, oesophageal cancer 0.62, hepatocellular carcinoma 0.67, cholangiocarcinoma 0.53 (GraphQL API, CC0)"},{"label":"IntOGen ARID1A","url":"https://www.intogen.org/search?gene=ARID1A","note":"driver in 90 cohorts (Act 1, LoF 89); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ARID1A: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 9 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Bladder & urothelial cancer, Colorectal cancer, Endometrial cancer, Gastric & gastro-oesophageal junction cancer, Breast cancer (all types), Lung cancer (all types) and more); Open Targets associates it with 13 specific cancer types at or above 0.5 (urinary bladder cancer, hepatocellular carcinoma, urinary bladder carcinoma, gastric adenocarcinoma, colorectal adenocarcinoma, breast adenocarcinoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O14497","url":"https://www.uniprot.org/uniprotkb/O14497/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARID1A","url":"https://civicdb.org/features/6559","note":"14 evidence items, 0 assertions, 7 variants; diseases: Ovarian Clear Cell Carcinoma, Colorectal Cancer, Ovarian Cancer, Stomach Cancer, Diffuse Large B-cell Lymphoma and 4 more (GraphQL API, CC0)"},{"label":"IntOGen ARID1A","url":"https://www.intogen.org/search?gene=ARID1A","note":"driver in 90 cohorts (Act 1, LoF 89); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ARID1A tissue","url":"https://www.proteinatlas.org/ENSG00000117713-ARID1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000117713 associations","url":"https://platform.opentargets.org/target/ENSG00000117713/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11110","ensembl":"ENSG00000117713","uniprot":"O14497","entrez":"8289","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeuchi et al, Gene, 1997, \"Molecular cloning and expression of a novel human cDNA containing CAG repeats\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9434167/","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. Location: Nucleus (UniProt). Locus 1p36.11 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.76 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 9 cohorts (BLCA, UTUC)","Colorectal cancer: Open Targets association 0.74 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Endometrial cancer: Open Targets association 0.72 with endometrial cancer (MONDO_0011962); IntOGen driver in 4 cohorts (UCEC)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.69 with gastric cancer (MONDO_0001056); CIViC evidence names this disease","Breast cancer: Open Targets association 0.68 with breast cancer (MONDO_0007254); IntOGen driver in 8 cohorts (BRCA)","Lung cancer: Open Targets association 0.68 with lung cancer (MONDO_0008903); IntOGen driver in 1 cohort (LUNG)","Pancreatic ductal adenocarcinoma: inactivating mutation (swi/snf and chromatin genes) 5-9%","Colorectal cancer: inactivating mutation 9-13%","Gallbladder cancer: mutation (loss of function) 13-25%"],"targetClass":"transcription","prevalence":[{"cancerId":"pancreatic","pct":"5-9","measure":"Inactivating mutation (SWI/SNF and chromatin genes)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal: 204 of 2,336, 8.7%, in pdac_msk_2024; 35 of 395, 8.9%, in pancreas_msk_2024; 29 of 383, 7.6%, in paad_qcmg_uq_2016; 9 of 179, 5.0%, in paad_tcga_pan_can_atlas_2018; 8 of 140 in paad_cptac_2021; 7 of 109 in paad_utsw_2015. KMT2C 73, KMT2D 100, SMARCA4 52, PBRM1 32 and ARID2 30 of 2,336 in the same study. Chromatin-regulating gene mutations (MLL, MLL2, MLL3, ARID1A) in 20% of 101 patients were associated with improved survival (Sausen 2015); ARID1A was a significantly mutated gene in 99 exomes (Biankin 2012) and a recurrent gene in TCGA (Cancer Genome Atlas 2017)."},{"cancerId":"colorectal","pct":"9-13","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 912 of 7,237, 12.6%, in crc_msk_2026; 104 of 1,134, 9.2%, in crc_msk_2017; 136 of 1,516, 9.0%, in crc_eo_2020; 58 of 534, 10.9%, in coadread_tcga_pan_can_atlas_2018; 67 of 619, 10.8%, in coadread_dfci_2016. KMT2D reads 805 of 7,237 and KMT2C 605 of 7,237 in the same study."},{"cancerId":"gallbladder","pct":"13-25","measure":"Mutation (loss of function)","source":"https://doi.org/10.1002/cncr.30254","note":"13% of 85 (Javle 2016); mutation in 50 of 244 samples, 20.5%, in cBioPortal gbc_mskcc_2022 and 26 of 103, 25.2%, in gbc_msk_2018; significantly lower in 376 Indian patients (Suryavanshi 2025) and absent from the 11 Japanese tumours in Narayan 2019; among the 32 significantly mutated biliary genes in Wardell 2018."}]},{"id":"arid1b","kind":"target","name":"ARID1B","aka":["AT-rich interaction domain 1B","AT-rich interactive domain-containing protein 1B","KIAA1235","ELD/OSA1","p250R","BAF250b","DAN15","6A3-5","SMARCF2"],"tldr":"ARID1B (AT-rich interactive domain-containing protein 1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Colorectal cancer, Renal cell carcinoma and 5 more.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex).\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.29, literature 0.94, genetic association 0.30, somatic mutation 0.95, animal model 0.46). IntOGen calls it a driver in 22 cohorts (4 activating, 16 loss-of-function), covering Angiosarcoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cervical Adenocarcinoma, Colorectal Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18040","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18040"},{"label":"UniProt Q8NFD5","url":"https://www.uniprot.org/uniprotkb/Q8NFD5/entry"},{"label":"NCBI Gene 57492","url":"https://www.ncbi.nlm.nih.gov/gene/57492"},{"label":"Ensembl ENSG00000049618","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000049618"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","colorectal","rcc","endometrial","urothelial","cervical","hcc","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 16 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARID1B","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18040","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18040","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NFD5","url":"https://www.uniprot.org/uniprotkb/Q8NFD5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARID1B","url":"https://civicdb.org/features/13820","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000049618","url":"https://platform.opentargets.org/target/ENSG00000049618/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.56, ovarian cancer 0.55, endometrial cancer 0.53, melanoma 0.55, skin cancer 0.56, breast cancer 0.59 (GraphQL API, CC0)"},{"label":"IntOGen ARID1B","url":"https://www.intogen.org/search?gene=ARID1B","note":"driver in 22 cohorts (Act 4, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ARID1B: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Colorectal cancer, Renal cell carcinoma, Endometrial cancer, Bladder & urothelial cancer, Cervical cancer, Hepatocellular carcinoma and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q8NFD5","url":"https://www.uniprot.org/uniprotkb/Q8NFD5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARID1B","url":"https://civicdb.org/features/13820","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen ARID1B","url":"https://www.intogen.org/search?gene=ARID1B","note":"driver in 22 cohorts (Act 4, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ARID1B tissue","url":"https://www.proteinatlas.org/ENSG00000049618-ARID1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000049618 associations","url":"https://platform.opentargets.org/target/ENSG00000049618/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18040","ensembl":"ENSG00000049618","uniprot":"Q8NFD5","entrez":"57492","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Imbert et al, Nat. Genet, 1996, \"Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8896557/","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). Location: Nucleus (UniProt). Locus 6q25.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575); IntOGen driver in 2 cohorts (COADREAD)","Renal cell carcinoma: IntOGen driver in 2 cohorts (CCRCC, PRCC)","Endometrial cancer: Open Targets association 0.53 with endometrial cancer (MONDO_0011962); IntOGen driver in 1 cohort (UCEC)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Cervical cancer: IntOGen driver in 1 cohort (CEAD)"],"targetClass":"transcription","prevalence":[]},{"id":"arid2","kind":"target","name":"ARID2","aka":["AT-rich interaction domain 2","AT-rich interactive domain-containing protein 2","KIAA1557","DKFZp686G052","FLJ30619","BAF200","SMARCF3","ZIPZAP","p200"],"tldr":"ARID2 (AT-rich interactive domain-containing protein 2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Hepatocellular carcinoma, Oesophageal cancer and 5 more.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.98). IntOGen calls it a driver in 36 cohorts (3 activating, 33 loss-of-function), covering Cholangiocarcinoma, Cutaneous Squamous Cell Carcinoma, Oesophageal Adenocarcinoma, Oesophageal Squamous Cell Carcinoma, Glioblastoma, Gallbladder Cancer and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18037","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18037"},{"label":"UniProt Q68CP9","url":"https://www.uniprot.org/uniprotkb/Q68CP9/entry"},{"label":"NCBI Gene 196528","url":"https://www.ncbi.nlm.nih.gov/gene/196528"},{"label":"Ensembl ENSG00000189079","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000189079"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","hcc","esophageal","gastric","biliary-tract-cancer","head-and-neck","nasopharyngeal","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 33 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARID2","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18037","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18037","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q68CP9","url":"https://www.uniprot.org/uniprotkb/Q68CP9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARID2","url":"https://civicdb.org/features/19838","note":"1 evidence items, 0 assertions, 2 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000189079","url":"https://platform.opentargets.org/target/ENSG00000189079/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.53, oesophageal cancer 0.57, hepatocellular carcinoma 0.63, melanoma 0.72, skin cancer 0.67, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ARID2","url":"https://www.intogen.org/search?gene=ARID2","note":"driver in 36 cohorts (Act 3, LoF 33); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ARID2: RNA low tissue specificity; no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Hepatocellular carcinoma, Oesophageal cancer, Gastric & gastro-oesophageal junction cancer, Biliary tract cancer (all types), Head and neck squamous cell carcinoma, Nasopharyngeal carcinoma and more); Open Targets associates it with 2 specific cancer types at or above 0.5 (hepatocellular carcinoma, melanoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q68CP9","url":"https://www.uniprot.org/uniprotkb/Q68CP9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ARID2","url":"https://civicdb.org/features/19838","note":"1 evidence items, 0 assertions, 2 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen ARID2","url":"https://www.intogen.org/search?gene=ARID2","note":"driver in 36 cohorts (Act 3, LoF 33); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ARID2 tissue","url":"https://www.proteinatlas.org/ENSG00000189079-ARID2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000189079 associations","url":"https://platform.opentargets.org/target/ENSG00000189079/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18037","ensembl":"ENSG00000189079","uniprot":"Q68CP9","entrez":"196528","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10997877/","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes. Location: Nucleus (UniProt). Locus 12q12 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.67 with skin cancer (MONDO_0002898)","Hepatocellular carcinoma: Open Targets association 0.63 with hepatocellular carcinoma (MONDO_0007256); CIViC evidence names this disease","Oesophageal cancer: Open Targets association 0.57 with oesophageal cancer (MONDO_0007576); IntOGen driver in 3 cohorts (ESCA, ESCC)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 2 cohorts (STAD)","Biliary tract cancer: Open Targets association 0.57 with biliary tract cancer (MONDO_0003060)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)"],"targetClass":"transcription","prevalence":[]},{"id":"arid5b","kind":"target","name":"ARID5B","aka":["AT-rich interaction domain 5B","AT-rich interactive domain-containing protein 5B","FLJ21150","MRF2"],"tldr":"ARID5B (AT-rich interactive domain-containing protein 5B) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia, Non-Hodgkin lymphoma and Acute lymphoblastic leukaemia.","summary":"Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver.\n\nOpen Targets scores its association with cancer at 0.43 (direct and indirect evidence; datatypes literature 0.26, animal model 0.53, genetic association 0.53).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17362","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17362"},{"label":"UniProt Q14865","url":"https://www.uniprot.org/uniprotkb/Q14865/entry"},{"label":"NCBI Gene 84159","url":"https://www.ncbi.nlm.nih.gov/gene/84159"},{"label":"Ensembl ENSG00000150347","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000150347"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARID5B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17362","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17362","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14865","url":"https://www.uniprot.org/uniprotkb/Q14865/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000150347","url":"https://platform.opentargets.org/target/ENSG00000150347/associations","note":"association with cancer (MONDO_0004992) 0.43; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.60, non-Hodgkin lymphoma 0.60, leukaemia 0.60 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17362","ensembl":"ENSG00000150347","uniprot":"Q14865","entrez":"84159","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Merrills B.W. et al, 1992, \"A new family of DNA binding factors contain a member responsive to retinoic acid\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q14865/entry","biology":"Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride metabolism in adipocytes by regulating expression of adipogenic genes. Overexpression leads to induction of smooth muscle marker genes, suggesting that it may also act as a regulator of smooth muscle cell differentiation and proliferation. Represses the cytomegalovirus enhancer. Location: Nucleus (UniProt). Locus 10q21.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Acute lymphoblastic leukaemia: Open Targets association 0.60 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"transcription","prevalence":[]},{"id":"arnt","kind":"target","name":"ARNT","aka":["aryl hydrocarbon receptor nuclear translocator","Aryl hydrocarbon receptor nuclear translocator","HIF1B","HIF-1beta","bHLHe2","ARNT1"],"tldr":"ARNT (Aryl hydrocarbon receptor nuclear translocator) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target and a tumour suppressor, and an approved or late-stage drug is recorded against it. Tied to Skin cancer, Breast cancer, Small-cell lung cancer and 1 more.","summary":"Transcription factor that functions as an obligate heterodimerisation partner for several basic helix-loop-helix PER-ARNT-SIM (bHLH-PAS) proteins. Forms heterodimers with the aryl hydrocarbon receptor (AHR) to mediate the transcriptional response to xenobiotics by binding xenobiotic response elements (XREs) or dioxin response elements (DREs) in target gene promoters. Also heterodimerises with hypoxia-inducible factor alpha subunits (HIF1A, EPAS1, NPAS1 or NPAS3) to form hypoxia-inducible transcription factors that bind hypoxia response elements (HREs) and activate genes involved in cellular and systemic responses to hypoxia, including angiogenesis, erythropoiesis, and metabolic adaptation.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.23, somatic mutation 0.81). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Small Cell Lung Cancer. In OnCo, 1 product record names it (Belzutifan).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:700"},{"label":"UniProt P27540","url":"https://www.uniprot.org/uniprotkb/P27540/entry"},{"label":"NCBI Gene 405","url":"https://www.ncbi.nlm.nih.gov/gene/405"},{"label":"Ensembl ENSG00000143437","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143437"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","breast-cancer","sclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["belzutifan"],"companies":[],"institutions":[],"pathways":["hif-vhl"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 1 OnCo product record names it; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARNT","role":["drug-target","tumour-suppressor"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:700","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P27540","url":"https://www.uniprot.org/uniprotkb/P27540/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143437","url":"https://platform.opentargets.org/target/ENSG00000143437/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: melanoma 0.56, skin cancer 0.56, breast cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ARNT","url":"https://www.intogen.org/search?gene=ARNT","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Belzutifan) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA ARNT: RNA low tissue specificity; high antibody staining in 5 normal tissues; highest cancer staining glioma (5 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Breast cancer (all types), Lung cancer (all types)); approvals of single-target medicines aimed at it also list Renal cell carcinoma, Brain and spinal cord tumours (all types), Neuroendocrine tumours, Pheochromocytoma and paraganglioma (PPGL), not counted; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ARNT tissue","url":"https://www.proteinatlas.org/ENSG00000143437-ARNT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143437 associations","url":"https://platform.opentargets.org/target/ENSG00000143437/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:700","ensembl":"ENSG00000143437","uniprot":"P27540","entrez":"405","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hoffman E.C. et al, Science, 1991, \"Cloning of a factor required for activity of the Ah (dioxin) receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1852076/","biology":"Transcription factor that functions as an obligate heterodimerisation partner for several basic helix-loop-helix PER-ARNT-SIM (bHLH-PAS) proteins. Forms heterodimers with the aryl hydrocarbon receptor (AHR) to mediate the transcriptional response to xenobiotics by binding xenobiotic response elements (XREs) or dioxin response elements (DREs) in target gene promoters. Also heterodimerises with hypoxia-inducible factor alpha subunits (HIF1A, EPAS1, NPAS1 or NPAS3) to form hypoxia-inducible transcription factors that bind hypoxia response elements (HREs) and activate genes involved in cellular and systemic responses to hypoxia, including angiogenesis, erythropoiesis, and metabolic adaptation. Plays a central role in environmental sensing and developmental and physiological regulation of gene expression. Location: Nucleus (UniProt). Locus 1q21.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)","Small-cell lung cancer: IntOGen driver in 1 cohort (SCLC)","Melanoma: Open Targets association 0.56 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"aromatase","kind":"target","name":"Aromatase (CYP19A1)","aka":[],"tldr":"The enzyme that turns androgens into oestrogen in fat, muscle and breast tissue after the menopause. Aromatase inhibitors remove the oestrogen that drives most breast cancers in post-menopausal women.","summary":"Aromatase, the product of the CYP19A1 gene, converts androstenedione and testosterone into oestrone and oestradiol. After the menopause the ovaries stop making oestrogen and aromatase in peripheral fat, muscle and the breast itself becomes the main source, so inhibiting it with letrozole, anastrozole or exemestane lowers circulating oestrogen to very low levels and deprives hormone receptor-positive breast cancer of its growth signal. Aromatase inhibitors are the standard endocrine partner for CDK4/6 inhibitors in advanced disease and a standard adjuvant treatment in early disease; joint pain and bone loss are their characteristic side effects.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Aromatase","links":[{"label":"UniProt P11511: CYP19A1","url":"https://www.uniprot.org/uniprotkb/P11511/entry"}],"tags":[],"related":[],"cancers":["breast-hr-positive"],"sections":[],"technologies":[],"targets":[],"drugs":["letrozole","exemestane"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CYP19A1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Glioblastoma Multiforme (TCGA)) and tissue enriched in normal placenta, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA CYP19A1: RNA tissue enriched (placenta 117 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); approvals of single-target medicines aimed at it also list Ovarian cancer, Endometrial cancer, not counted; Open Targets associates it with 2 specific cancer types at or above 0.5 (breast cancer, breast carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CYP19A1 tissue","url":"https://www.proteinatlas.org/ENSG00000137869-CYP19A1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CYP19A1 pathology","url":"https://www.proteinatlas.org/ENSG00000137869-CYP19A1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137869 associations","url":"https://platform.opentargets.org/target/ENSG00000137869/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2594","ensembl":"ENSG00000137869","uniprot":"P11511","entrez":"1588","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Evans C.T. et al, Proc. Natl. Acad. Sci. U.S.A, 1986, \"Isolation and characterization of a complementary DNA specific for human aromatase-system cytochrome P-450 mRNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3018730/","biology":"Cytochrome P450 enzyme that aromatises the A ring of androgens to form oestrogens; expressed in adipose tissue, muscle, bone, brain and breast tumour stroma.","whereFound":["Hormone receptor-positive breast cancer in post-menopausal women"],"targetClass":"enzyme","prevalence":[{"cancerId":"breast-hr-positive","pct":"about 70","measure":"Share of breast cancers that are hormone receptor-positive, the population aromatase inhibitors treat","source":"https://www.cancer.org/cancer/types/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"}]},{"id":"arrb1","kind":"target","name":"ARRB1","aka":["arrestin beta 1","Beta-arrestin-1","ARR1"],"tldr":"ARRB1 (Beta-arrestin-1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Functions in regulating agonist-mediated G protein-coupled receptor (GPCR) signalling by mediating both receptor desensitisation and resensitisation processes. During homologous desensitisation, beta-arrestins bind to the GPCR-phosphorylated receptor and sterically preclude its coupling to the cognate G protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalisation by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs).\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.97, animal model 0.48, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:711","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:711"},{"label":"UniProt P49407","url":"https://www.uniprot.org/uniprotkb/P49407/entry"},{"label":"NCBI Gene 408","url":"https://www.ncbi.nlm.nih.gov/gene/408"},{"label":"Ensembl ENSG00000137486","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137486"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARRB1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:711","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:711","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49407","url":"https://www.uniprot.org/uniprotkb/P49407/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137486","url":"https://platform.opentargets.org/target/ENSG00000137486/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:711","ensembl":"ENSG00000137486","uniprot":"P49407","entrez":"408","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Parruti et al, J. Biol. Chem, 1993, \"Molecular analysis of human beta-arrestin-1: cloning, tissue distribution, and regulation of expression. Identification of two isoforms generated by alternative splicing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8486659/","biology":"Functions in regulating agonist-mediated G protein-coupled receptor (GPCR) signalling by mediating both receptor desensitisation and resensitisation processes. During homologous desensitisation, beta-arrestins bind to the GPCR-phosphorylated receptor and sterically preclude its coupling to the cognate G protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalisation by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs). However, the extent of beta-arrestin involvement appears to vary significantly depending on the receptor, agonist and cell type. Internalised arrestin-receptor complexes traffic to intracellular endosomes, where they remain uncoupled from G proteins. Two different modes of arrestin-mediated internalisation occur. Location: Cytoplasm; Nucleus; Cell membrane; Membrane, clathrin-coated pit (UniProt). Locus 11q13.4 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"arrb2","kind":"target","name":"ARRB2","aka":["arrestin beta 2","Beta-arrestin-2","BARR2","DKFZp686L0365","ARR2"],"tldr":"ARRB2 (Beta-arrestin-2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Functions in regulating agonist-mediated G protein-coupled receptor (GPCR) signalling by mediating both receptor desensitisation and resensitisation processes. During homologous desensitisation, beta-arrestins bind to the GPCR-phosphorylated receptor and sterically preclude its coupling to the cognate G protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalisation by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs).\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.97, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:712","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:712"},{"label":"UniProt P32121","url":"https://www.uniprot.org/uniprotkb/P32121/entry"},{"label":"NCBI Gene 409","url":"https://www.ncbi.nlm.nih.gov/gene/409"},{"label":"Ensembl ENSG00000141480","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141480"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ARRB2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:712","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:712","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P32121","url":"https://www.uniprot.org/uniprotkb/P32121/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141480","url":"https://platform.opentargets.org/target/ENSG00000141480/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:712","ensembl":"ENSG00000141480","uniprot":"P32121","entrez":"409","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rapoport et al, Mol. Cell. Endocrinol, 1992, \"Cloning of a member of the arrestin family from a human thyroid cDNA library\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1587386/","biology":"Functions in regulating agonist-mediated G protein-coupled receptor (GPCR) signalling by mediating both receptor desensitisation and resensitisation processes. During homologous desensitisation, beta-arrestins bind to the GPCR-phosphorylated receptor and sterically preclude its coupling to the cognate G protein; the binding appears to require additional receptor determinants exposed only in the active receptor conformation. The beta-arrestins target many receptors for internalisation by acting as endocytic adapters (CLASPs, clathrin-associated sorting proteins) and recruiting the GPRCs to the adapter protein 2 complex 2 (AP-2) in clathrin-coated pits (CCPs). However, the extent of beta-arrestin involvement appears to vary significantly depending on the receptor, agonist and cell type. Internalised arrestin-receptor complexes traffic to intracellular endosomes, where they remain uncoupled from G proteins. Two different modes of arrestin-mediated internalisation occur. Location: Cytoplasm; Nucleus; Cell membrane; Membrane, clathrin-coated pit (UniProt). Locus 17p13.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ascl1","kind":"target","name":"ASCL1","aka":["achaete-scute family bHLH transcription factor 1","Achaete-scute homolog 1","ASH1","HASH1","bHLHa46"],"tldr":"ASCL1 (Achaete-scute homolog 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Atypical teratoid/rhabdoid tumour.","summary":"Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:738","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:738"},{"label":"UniProt P50553","url":"https://www.uniprot.org/uniprotkb/P50553/entry"},{"label":"NCBI Gene 429","url":"https://www.ncbi.nlm.nih.gov/gene/429"},{"label":"Ensembl ENSG00000139352","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139352"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["atrt","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["lineage-plasticity-neuroendocrine","transcription-addiction"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Small-cell lung cancer: ASCL1 is the dominant transcription factor in about 69% of tumours by immunohistochemistry, with 37% co-expressing NEUROD1, a degree of overlap that no laboratory model predicted (Baine 2020). The ASCL1 state is neuroendocrine-marker high, TTF-1 high and DLL3 high, associated with MYCL amplification and with BCL-2 dependence (Rudin 2019, Gay 2021)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ASCL1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:738","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:738","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50553","url":"https://www.uniprot.org/uniprotkb/P50553/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ASCL1","url":"https://civicdb.org/features/436","note":"1 evidence items, 0 assertions, 1 variants; diseases: Atypical Teratoid Rhabdoid Tumour (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ASCL1: RNA tissue enhanced (brain 16 nTPM, liver 10 nTPM, pituitary gland 28 nTPM); high antibody staining in 3 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ASCL1 tissue","url":"https://www.proteinatlas.org/ENSG00000139352-ASCL1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139352 associations","url":"https://platform.opentargets.org/target/ENSG00000139352/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:738","ensembl":"ENSG00000139352","uniprot":"P50553","entrez":"429","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ball D.W. et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8390674/","biology":"Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways. Directly binds the E box motif (5'-CANNTG-3') on promoters and promotes transcription of neuronal genes. The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro. Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS. Essential for the generation of olfactory and autonomic neurons. Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signalling activation. Location: Nucleus (UniProt). Locus 12q23.2 (HGNC).","whereFound":["Atypical teratoid/rhabdoid tumour: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"asns","kind":"target","name":"ASNS","aka":["asparagine synthetase (glutamine-hydrolyzing)","Asparagine synthetase [glutamine-hydrolyzing]"],"tldr":"ASNS (Asparagine synthetase [glutamine-hydrolysing]) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer.","summary":"Catalyses the ATP-dependent synthesis of L-asparagine from L-aspartate, using L-glutamine as a source of nitrogen. Can also use ammonia as the nitrogen source in vitro.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Asparaginase.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:753","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:753"},{"label":"UniProt P08243","url":"https://www.uniprot.org/uniprotkb/P08243/entry"},{"label":"NCBI Gene 440","url":"https://www.ncbi.nlm.nih.gov/gene/440"},{"label":"Ensembl ENSG00000070669","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000070669"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ASNS","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:753","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:753","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08243","url":"https://www.uniprot.org/uniprotkb/P08243/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ASNS","url":"https://civicdb.org/features/446","note":"1 evidence items, 0 assertions, 1 variants; diseases: Ovarian Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ASNS: RNA tissue enhanced (pancreas 114 nTPM); blood lineage group enriched (B-cells 9 nTPM, T-cells 14 nTPM); high antibody staining in 5 normal tissues; highest cancer staining colorectal cancer (3 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ASNS tissue","url":"https://www.proteinatlas.org/ENSG00000070669-ASNS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000070669 associations","url":"https://platform.opentargets.org/target/ENSG00000070669/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:753","ensembl":"ENSG00000070669","uniprot":"P08243","entrez":"440","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Andrulis I.L. et al, Mol. Cell. Biol, 1987, \"Isolation of human cDNAs for asparagine synthetase and expression in Jensen rat sarcoma cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2886907/","biology":"Catalyses the ATP-dependent synthesis of L-asparagine from L-aspartate, using L-glutamine as a source of nitrogen. Can also use ammonia as the nitrogen source in vitro. Locus 7q21.3 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"aspscr1","kind":"target","name":"ASPSCR1","aka":["ASPSCR1 tether for SLC2A4, UBX domain containing","Tether containing UBX domain for GLUT4","UBXD9","UBXN9"],"tldr":"ASPSCR1 (Tether containing UBX domain for GLUT4) is a gene. The public catalogues list it as a drug target and a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas.","summary":"Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface. Enhances VCP methylation catalysed by VCPKMT.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.79, genetic association 0.09, somatic mutation 0.96). In OnCo, 1 product record names it (Cediranib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13825","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13825"},{"label":"UniProt Q9BZE9","url":"https://www.uniprot.org/uniprotkb/Q9BZE9/entry"},{"label":"NCBI Gene 79058","url":"https://www.ncbi.nlm.nih.gov/gene/79058"},{"label":"Ensembl ENSG00000169696","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169696"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":["cediranib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 1 OnCo product record names it; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ASPSCR1","role":["drug-target","fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13825","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13825","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BZE9","url":"https://www.uniprot.org/uniprotkb/Q9BZE9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000169696","url":"https://platform.opentargets.org/target/ENSG00000169696/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: sarcoma 0.56 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (Cediranib), an alteration absent from normal cells. HPA ASPSCR1: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Cediranib"},{"label":"Human Protein Atlas ASPSCR1 tissue","url":"https://www.proteinatlas.org/ENSG00000169696-ASPSCR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169696 associations","url":"https://platform.opentargets.org/target/ENSG00000169696/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13825","ensembl":"ENSG00000169696","uniprot":"Q9BZE9","entrez":"79058","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ladanyi et al, Oncogene, 2001, \"The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11244503/","biology":"Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface. Enhances VCP methylation catalysed by VCPKMT. Location: Endomembrane system; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cytoplasm; Nucleus (UniProt). Locus 17q25.3 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.56 with sarcoma (MONDO_0005089)"],"targetClass":"other","prevalence":[]},{"id":"ass1","kind":"target","name":"ASS1","aka":["argininosuccinate synthase 1","Argininosuccinate synthase","CTLN1"],"tldr":"ASS1 (Argininosuccinate synthase) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer and Sarcomas.","summary":"One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyses the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Carboplatin, Cisplatin, Pegargiminase and Chloroquine and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:758","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:758"},{"label":"UniProt P00966","url":"https://www.uniprot.org/uniprotkb/P00966/entry"},{"label":"NCBI Gene 445","url":"https://www.ncbi.nlm.nih.gov/gene/445"},{"label":"Ensembl ENSG00000130707","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130707"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 5 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ASS1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:758","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:758","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P00966","url":"https://www.uniprot.org/uniprotkb/P00966/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ASS1","url":"https://civicdb.org/features/450","note":"2 evidence items, 0 assertions, 2 variants; diseases: Ovarian Cancer, Sarcoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ASS1: RNA group enriched (kidney 1,201 nTPM, liver 1,907 nTPM); blood lineage lineage enriched (dendritic cells 2 nTPM); high antibody staining in 5 normal tissues; highest cancer staining ovarian cancer (9 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ASS1 tissue","url":"https://www.proteinatlas.org/ENSG00000130707-ASS1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000130707 associations","url":"https://platform.opentargets.org/target/ENSG00000130707/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:758","ensembl":"ENSG00000130707","uniprot":"P00966","entrez":"445","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bock H.-G.O. et al, Nucleic Acids Res, 1983, \"Sequence for human argininosuccinate synthetase cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6194510/","biology":"One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyses the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues. Location: Cytoplasm, cytosol (UniProt). Locus 9q34.11 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease","Sarcomas: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"asxl1","kind":"target","name":"ASXL1","aka":["ASXL transcriptional regulator 1","Polycomb group protein ASXL1","KIAA0978"],"tldr":"ASXL1 (Polycomb group protein ASXL1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Myelodysplastic syndromes / neoplasms and 5 more.","summary":"Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as a coactivator of RARA and RXRA through association with NCOA1. Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity.\n\nCIViC holds 8 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes literature 0.98, animal model 0.66, genetic association 0.85, somatic mutation 0.93). IntOGen calls it a driver in 17 cohorts (1 activating, 16 loss-of-function), covering Acute Myeloid Leukaemia, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18318","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18318"},{"label":"UniProt Q8IXJ9","url":"https://www.uniprot.org/uniprotkb/Q8IXJ9/entry"},{"label":"NCBI Gene 171023","url":"https://www.ncbi.nlm.nih.gov/gene/171023"},{"label":"Ensembl ENSG00000171456","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171456"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","mds","non-hodgkin-lymphoma","urothelial","breast-cancer","rcc","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["clonal-haematopoiesis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 16 cohorts; CIViC holds 8 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myelofibrosis; High-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ASXL1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18318","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18318","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IXJ9","url":"https://www.uniprot.org/uniprotkb/Q8IXJ9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ASXL1","url":"https://civicdb.org/features/68","note":"8 evidence items, 0 assertions, 2 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000171456","url":"https://platform.opentargets.org/target/ENSG00000171456/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.77, non-Hodgkin lymphoma 0.62, skin cancer 0.57, myelodysplastic syndrome 0.76, myeloproliferative neoplasm 0.83, leukaemia 0.83 (GraphQL API, CC0)"},{"label":"IntOGen ASXL1","url":"https://www.intogen.org/search?gene=ASXL1","note":"driver in 17 cohorts (Act 1, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ASXL1: RNA low tissue specificity; no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lymphoma, Bladder & urothelial cancer, Breast cancer (all types), Renal cell carcinoma, Colorectal cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (myelodysplastic syndrome, acute myeloid leukemia, myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q8IXJ9","url":"https://www.uniprot.org/uniprotkb/Q8IXJ9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ASXL1","url":"https://civicdb.org/features/68","note":"8 evidence items, 0 assertions, 2 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)"},{"label":"IntOGen ASXL1","url":"https://www.intogen.org/search?gene=ASXL1","note":"driver in 17 cohorts (Act 1, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ASXL1 tissue","url":"https://www.proteinatlas.org/ENSG00000171456-ASXL1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171456 associations","url":"https://platform.opentargets.org/target/ENSG00000171456/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18318","ensembl":"ENSG00000171456","uniprot":"Q8IXJ9","entrez":"171023","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10231032/","biology":"Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as a coactivator of RARA and RXRA through association with NCOA1. Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity. Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Acts as a sensor of N(6)-methyladenine methylation on DNA (6mA): recognises and binds 6mA DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing. The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signalling, cell proliferation and cell viability. Location: Nucleus (UniProt). Locus 20q11.21 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.83 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.83 with leukaemia (MONDO_0005059)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.76 with myelodysplastic syndrome (MONDO_0018881); CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.62 with non-Hodgkin lymphoma (MONDO_0018908)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"transcription","prevalence":[]},{"id":"asxl2","kind":"target","name":"ASXL2","aka":["ASXL transcriptional regulator 2","Putative Polycomb group protein ASXL2","ASXH2","FLJ10898","KIAA1685"],"tldr":"ASXL2 (Putative Polycomb group protein ASXL2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer and Acute myeloid leukaemia.","summary":"Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.08, somatic mutation 0.70). IntOGen calls it a driver in 3 cohorts (0 activating, 3 loss-of-function), covering Acute Myeloid Leukaemia, Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23805","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23805"},{"label":"UniProt Q76L83","url":"https://www.uniprot.org/uniprotkb/Q76L83/entry"},{"label":"NCBI Gene 55252","url":"https://www.ncbi.nlm.nih.gov/gene/55252"},{"label":"Ensembl ENSG00000143970","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143970"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ASXL2","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:23805","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23805","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q76L83","url":"https://www.uniprot.org/uniprotkb/Q76L83/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143970","url":"https://platform.opentargets.org/target/ENSG00000143970/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"},{"label":"IntOGen ASXL2","url":"https://www.intogen.org/search?gene=ASXL2","note":"driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:23805","ensembl":"ENSG00000143970","uniprot":"Q76L83","entrez":"55252","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11214970/","biology":"Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility. Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. Location: Nucleus (UniProt). Locus 2p23.3 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 2 cohorts (BLCA)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"atf1","kind":"target","name":"ATF1","aka":["activating transcription factor 1","Cyclic AMP-dependent transcription factor ATF-1","TREB36"],"tldr":"ATF1 (Cyclic AMP-dependent transcription factor ATF-1) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas, Colorectal cancer and Melanoma.","summary":"This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Binds to the Tax-responsive element (TRE) of HTLV-I. Mediates PKA-induced stimulation of CRE-reporter genes.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.52, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:783","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:783"},{"label":"UniProt P18846","url":"https://www.uniprot.org/uniprotkb/P18846/entry"},{"label":"NCBI Gene 466","url":"https://www.ncbi.nlm.nih.gov/gene/466"},{"label":"Ensembl ENSG00000123268","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123268"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","colorectal","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATF1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:783","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:783","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P18846","url":"https://www.uniprot.org/uniprotkb/P18846/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000123268","url":"https://platform.opentargets.org/target/ENSG00000123268/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: colorectal cancer 0.51, melanoma 0.54, sarcoma 0.59 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:783","ensembl":"ENSG00000123268","uniprot":"P18846","entrez":"466","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hai et al, Genes Dev, 1989, \"Transcription factor ATF cDNA clones: an extensive family of leucine zipper proteins able to selectively form DNA-binding heterodimers\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2516827/","biology":"This protein binds the cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), a sequence present in many viral and cellular promoters. Binds to the Tax-responsive element (TRE) of HTLV-I. Mediates PKA-induced stimulation of CRE-reporter genes. Represses the expression of FTH1 and other antioxidant detoxification genes. Triggers cell proliferation and transformation. Location: Nucleus (UniProt). Locus 12q13.12 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.59 with sarcoma (MONDO_0005089)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.54 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"atf7ip","kind":"target","name":"ATF7IP","aka":["activating transcription factor 7 interacting protein","Activating transcription factor 7-interacting protein 1","FLJ10688","p621","ATF7IP1","MCAF1"],"tldr":"ATF7IP (Activating transcription factor 7-interacting protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Endometrial cancer and Non-small-cell lung cancer.","summary":"Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Required for HUSH-mediated heterochromatin formation and gene silencing.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.80, genetic association 0.61, somatic mutation 0.54). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Lung Adenocarcinoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20092","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20092"},{"label":"UniProt Q6VMQ6","url":"https://www.uniprot.org/uniprotkb/Q6VMQ6/entry"},{"label":"NCBI Gene 55729","url":"https://www.ncbi.nlm.nih.gov/gene/55729"},{"label":"Ensembl ENSG00000171681","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171681"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["endometrial","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATF7IP","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:20092","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20092","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6VMQ6","url":"https://www.uniprot.org/uniprotkb/Q6VMQ6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171681","url":"https://platform.opentargets.org/target/ENSG00000171681/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"},{"label":"IntOGen ATF7IP","url":"https://www.intogen.org/search?gene=ATF7IP","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:20092","ensembl":"ENSG00000171681","uniprot":"Q6VMQ6","entrez":"55729","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gunther et al, Mol. Cell. Biochem, 2000, \"A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10976766/","biology":"Recruiter that couples transcriptional factors to general transcription apparatus and thereby modulates transcription regulation and chromatin formation. Can both act as an activator or a repressor depending on the context. Required for HUSH-mediated heterochromatin formation and gene silencing. Mediates MBD1-dependent transcriptional repression, probably by recruiting complexes containing SETDB1. Stabilises SETDB1, is required to stimulate histone methyltransferase activity of SETDB1 and facilitates the conversion of dimethylated to trimethylated H3 'Lys-9' (H3K9me3). The complex formed with MBD1 and SETDB1 represses transcription and couples DNA methylation and histone H3 'Lys-9' trimethylation (H3K9me3). Location: Nucleus (UniProt). Locus 12p13.1 (HGNC).","whereFound":["Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"atg12","kind":"target","name":"ATG12","aka":["autophagy related 12","Ubiquitin-like protein ATG12","APG12","APG12L"],"tldr":"ATG12 (Ubiquitin-like protein ATG12) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma.","summary":"Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:588","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:588"},{"label":"UniProt O94817","url":"https://www.uniprot.org/uniprotkb/O94817/entry"},{"label":"NCBI Gene 9140","url":"https://www.ncbi.nlm.nih.gov/gene/9140"},{"label":"Ensembl ENSG00000145782","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145782"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATG12","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:588","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:588","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O94817","url":"https://www.uniprot.org/uniprotkb/O94817/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATG12","url":"https://civicdb.org/features/7227","note":"1 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Ductal Adenocarcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ATG12: RNA low tissue specificity; no normal tissue stained high; highest cancer staining liver cancer (2 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ATG12 tissue","url":"https://www.proteinatlas.org/ENSG00000145782-ATG12/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000145782 associations","url":"https://platform.opentargets.org/target/ENSG00000145782/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:588","ensembl":"ENSG00000145782","uniprot":"O94817","entrez":"9140","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mizushima et al, J. Biol. Chem, 1998, \"A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9852036/","biology":"Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. As part of the ATG8 conjugation system with ATG5 and ATG16L1, required for recruitment of LRRK2 to stressed lysosomes and induction of LRRK2 kinase activity in response to lysosomal stress. In association with ATG5, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection. Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for the initiation of HCV replication, but not required once infection is established. Location: Cytoplasm; Preautophagosomal structure membrane (UniProt). Locus 5q22.3 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"atg7","kind":"target","name":"ATG7","aka":["autophagy related 7","Ubiquitin-like modifier-activating enzyme ATG7","GSA7","DKFZp434N0735","APG7L"],"tldr":"ATG7 (Ubiquitin-like modifier-activating enzyme ATG7) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma, Renal cell carcinoma and Clear cell renal cell carcinoma.","summary":"E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.89, genetic association 0.34, somatic mutation 0.36). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Renal Clear Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16935","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16935"},{"label":"UniProt O95352","url":"https://www.uniprot.org/uniprotkb/O95352/entry"},{"label":"NCBI Gene 10533","url":"https://www.ncbi.nlm.nih.gov/gene/10533"},{"label":"Ensembl ENSG00000197548","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197548"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["pancreatic","rcc","clear-cell-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATG7","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16935","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16935","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95352","url":"https://www.uniprot.org/uniprotkb/O95352/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATG7","url":"https://civicdb.org/features/8392","note":"1 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Ductal Adenocarcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000197548","url":"https://platform.opentargets.org/target/ENSG00000197548/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"},{"label":"IntOGen ATG7","url":"https://www.intogen.org/search?gene=ATG7","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ATG7: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining glioma (4 of 10 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma, Renal cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O95352","url":"https://www.uniprot.org/uniprotkb/O95352/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATG7","url":"https://civicdb.org/features/8392","note":"1 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Ductal Adenocarcinoma (GraphQL API, CC0)"},{"label":"IntOGen ATG7","url":"https://www.intogen.org/search?gene=ATG7","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ATG7 tissue","url":"https://www.proteinatlas.org/ENSG00000197548-ATG7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197548 associations","url":"https://platform.opentargets.org/target/ENSG00000197548/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16935","ensembl":"ENSG00000197548","uniprot":"O95352","entrez":"10533","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yuan et al, Mol. Biol. Cell, 1999, \"Glucose-induced autophagy of peroxisomes in Pichia pastoris requires a unique E1-like protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10233149/","biology":"E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Facilitates LC3-I lipidation with phosphatidylethanolamine to form LC3-II which is found on autophagosomal membranes. Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Location: Cytoplasm; Preautophagosomal structure (UniProt). Locus 3p25.3 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Clear cell renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"atic","kind":"target","name":"ATIC","aka":["5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase","Bifunctional purine biosynthesis protein ATIC","AICARFT","IMPCHASE"],"tldr":"ATIC (Bifunctional purine biosynthesis protein ATIC) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Lung cancer.","summary":"Bifunctional enzyme that catalyses the last two steps of purine biosynthesis. Acts as a transformylase that incorporates a formyl group to the AMP analog AICAR (5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide) to produce the intermediate formyl-AICAR (FAICAR). Can use both 10-formyldihydrofolate and 10-formyltetrahydrofolate as the formyl donor in this reaction.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.93, genetic association 0.00, somatic mutation 0.90).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:794","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:794"},{"label":"UniProt P31939","url":"https://www.uniprot.org/uniprotkb/P31939/entry"},{"label":"NCBI Gene 471","url":"https://www.ncbi.nlm.nih.gov/gene/471"},{"label":"Ensembl ENSG00000138363","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138363"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATIC","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:794","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:794","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31939","url":"https://www.uniprot.org/uniprotkb/P31939/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138363","url":"https://platform.opentargets.org/target/ENSG00000138363/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: lung cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:794","ensembl":"ENSG00000138363","uniprot":"P31939","entrez":"471","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rasmussen H.H. et al, Electrophoresis, 1992, \"Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1286667/","biology":"Bifunctional enzyme that catalyses the last two steps of purine biosynthesis. Acts as a transformylase that incorporates a formyl group to the AMP analog AICAR (5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4-carboxamide) to produce the intermediate formyl-AICAR (FAICAR). Can use both 10-formyldihydrofolate and 10-formyltetrahydrofolate as the formyl donor in this reaction. Also catalyses the cyclisation of FAICAR to inosine monophosphate (IMP). Is able to convert thio-AICAR to 6-mercaptopurine ribonucleotide, an inhibitor of purine biosynthesis used in the treatment of human leukaemias. Promotes insulin receptor/INSR autophosphorylation and is involved in INSR internalisation. Location: Cytoplasm, cytosol (UniProt). Locus 2q35 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)"],"targetClass":"enzyme","prevalence":[]},{"id":"atm","kind":"target","name":"ATM","aka":["ATM serine/threonine kinase","Serine-protein kinase ATM","TEL1","TELO1"],"tldr":"ATM is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Serine/threonine protein kinase which activates checkpoint signalling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionising ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognises the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism.\n\nCIViC holds 61 clinical evidence items and 0 assertions across 38 variants, naming Doxorubicin, Olaparib, Temozolomide and Paclitaxel and others. Open Targets scores its association with cancer at 0.92 (direct and indirect evidence; datatypes genetic literature 0.85, affected pathway 0.93, literature 1.00, genetic association 0.95, somatic mutation 0.98, animal model 0.42). IntOGen calls it a driver in 50 cohorts (14 activating, 36 loss-of-function), covering Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Colon Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:795","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:795"},{"label":"UniProt Q13315","url":"https://www.uniprot.org/uniprotkb/Q13315/entry"},{"label":"NCBI Gene 472","url":"https://www.ncbi.nlm.nih.gov/gene/472"},{"label":"Ensembl ENSG00000149311","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000149311"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","colorectal","non-hodgkin-lymphoma","prostate","leukaemia","gastric","urothelial","ovarian","pancreatic","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["homologous-recombination-repair","p53-cell-cycle","p53-mdm2-axis","synthetic-lethality-map"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-hu-germline-mutations-pancreatic-cancer-risk-jama-2018","paper-shindo-germline-sporadic-pancreatic-jco-2017","paper-biankin-pancreatic-exomes-axon-guidance-nature-2012","paper-caps-consortium-surveillance-recommendations-gut-2020","paper-park-hrd-pancreatic-platinum-ccr-2020","paper-erices-chilean-gallbladder-landscape-front-oncol-2025","paper-pritchard-inherited-dna-repair-metastatic-prostate-nejm-2016","paper-jensen-clonal-haematopoiesis-cfdna-interference-prostate-jama-oncol-2021"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 14 therapies; IntOGen calls it an activating (Act) driver in 14 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 36 cohorts; CIViC holds 61 clinical evidence items on its variants; UniProt keyword \"DNA damage\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Haematologic Cancer.","Pancreatic ductal adenocarcinoma: germline variants in 1.2 to 2.3% with an odds ratio of 5.71, the second commonest pancreatic risk gene after BRCA2 (Hu 2018, Shindo 2017); somatic or germline ATM mutations appear in 3 to 5% of tumours (cBioPortal). ATM is a non-core homologous recombination gene, so platinum benefit is less clear than for BRCA1, BRCA2 and PALB2 (Park 2020), but ATM carriers with one affected first-degree relative are eligible for surveillance (Goggins 2020)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATM","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:795","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:795","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13315","url":"https://www.uniprot.org/uniprotkb/Q13315/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATM","url":"https://civicdb.org/features/69","note":"61 evidence items, 0 assertions, 38 variants; diseases: Chronic Lymphocytic Leukaemia, Prostate Cancer, Lymphoma, Castration-resistant Prostate Carcinoma, Lung Cancer and 15 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000149311","url":"https://platform.opentargets.org/target/ENSG00000149311/associations","note":"association with cancer (MONDO_0004992) 0.92; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, colorectal cancer 0.78, gastric cancer 0.74, prostate cancer 0.76, urinary bladder cancer 0.72, renal cell carcinoma 0.57 (GraphQL API, CC0)"},{"label":"IntOGen ATM","url":"https://www.intogen.org/search?gene=ATM","note":"driver in 50 cohorts (Act 14, LoF 36); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ATM: RNA low tissue specificity; high antibody staining in 31 normal tissues; highest cancer staining lymphoma (12 of 12 high). Distribution: 9 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Breast cancer (all types), Colorectal cancer, Lymphoma, Prostate cancer, Leukaemia, Gastric & gastro-oesophageal junction cancer and more); Open Targets associates it with 26 specific cancer types at or above 0.5 (ataxia telangiectasia, breast cancer, breast carcinoma, hereditary breast carcinoma, ATM-related cancer predisposition, urinary bladder carcinoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q13315","url":"https://www.uniprot.org/uniprotkb/Q13315/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATM","url":"https://civicdb.org/features/69","note":"61 evidence items, 0 assertions, 38 variants; diseases: Chronic Lymphocytic Leukaemia, Prostate Cancer, Lymphoma, Castration-resistant Prostate Carcinoma, Lung Cancer and 15 more (GraphQL API, CC0)"},{"label":"IntOGen ATM","url":"https://www.intogen.org/search?gene=ATM","note":"driver in 50 cohorts (Act 14, LoF 36); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ATM tissue","url":"https://www.proteinatlas.org/ENSG00000149311-ATM/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000149311 associations","url":"https://platform.opentargets.org/target/ENSG00000149311/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:795","ensembl":"ENSG00000149311","uniprot":"Q13315","entrez":"472","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Savitsky et al, Hum. Mol. Genet, 1995, \"The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8589678/","biology":"Serine/threonine protein kinase which activates checkpoint signalling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionising ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognises the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. Location: Nucleus; Cytoplasmic vesicle; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Peroxisome matrix (UniProt). Locus 11q22.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.84 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Colorectal cancer: Open Targets association 0.78 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.78 with non-Hodgkin lymphoma (MONDO_0018908); CIViC evidence names this disease","Prostate cancer: Open Targets association 0.76 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Leukaemia: Open Targets association 0.75 with leukaemia (MONDO_0005059)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.74 with gastric cancer (MONDO_0001056); CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: germline pathogenic variant (somatic in a further 3 to 4%) 1.2-2.3%","Gallbladder cancer: mutation 7-16%","Prostate cancer: inactivating mutation, germline or somatic 3-11% depending on disease state"],"targetClass":"kinase","prevalence":[{"cancerId":"pancreatic","pct":"1.2-2.3","measure":"Germline pathogenic variant (somatic in a further 3 to 4%)","source":"https://doi.org/10.1001/jama.2018.6228","note":"2.3% of 3,030 against 0.37% of controls, odds ratio 5.71 (Hu 2018); 10 of 854, 1.2% (Shindo 2017); ATM among the new significantly mutated genes in 99 exomes (Biankin 2012). Tumour sequencing: 69 of 2,336, 3.0%, in pdac_msk_2024; 14 of 383, 3.7%, in paad_qcmg_uq_2016; 8 of 179, 4.5%, in paad_tcga_pan_can_atlas_2018 (cBioPortal). Germline ATM carriers with one affected first-degree relative became eligible for CAPS surveillance in 2020 (Goggins 2020)."},{"cancerId":"gallbladder","pct":"7-16","measure":"Mutation","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Mutation in 16 of 244 samples, 6.6%, in cBioPortal gbc_mskcc_2022 and 16 of 103, 15.5%, in gbc_msk_2018; among the actionable variants in the Chilean cohort (Erices 2025)."},{"cancerId":"prostate","pct":"3-11","measure":"Inactivating mutation, germline or somatic","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"cBioPortal mutation: 20 of 494, 4.0%, in prad_tcga_pan_can_atlas_2018; 8 of 477, 1.7%, in prad_cpcg_2017; 38 of 1,013, 3.8%, in prad_p1000; 24 of 424, 5.7%, in prad_mcspc_mskcc_2020; 96 of 2,260, 4.2%, in prostate_msk_2024; 27 of 444, 6.1%, in prad_su2c_2019; 16 of 141, 11.3%, in prad_fhcrc. Germline: 11 of 692 men with metastatic disease, 1.6% (Pritchard 2016)."}]},{"id":"atp1a1","kind":"target","name":"ATP1A1","aka":["ATPase Na+/K+ transporting subunit alpha 1","Sodium/potassium-transporting ATPase subunit alpha-1"],"tldr":"ATP1A1 (Sodium/potassium-transporting ATPase subunit alpha-1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target and an oncogene driver, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Gastric & gastro-oesophageal junction cancer and Colorectal cancer.","summary":"Catalytic subunit of the Na(+)/K(+)-ATPase pump that hydrolyses ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle against electrochemical gradients. It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane. This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes clinical 0.18, affected pathway 0.32, literature 0.95, genetic association 0.00, somatic mutation 0.77). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:799"},{"label":"UniProt P05023","url":"https://www.uniprot.org/uniprotkb/P05023/entry"},{"label":"NCBI Gene 476","url":"https://www.ncbi.nlm.nih.gov/gene/476"},{"label":"Ensembl ENSG00000163399","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163399"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","gastric","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.18; IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATP1A1","role":["drug-target","oncogene-driver"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:799","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P05023","url":"https://www.uniprot.org/uniprotkb/P05023/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163399","url":"https://platform.opentargets.org/target/ENSG00000163399/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.50, gastric cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ATP1A1","url":"https://www.intogen.org/search?gene=ATP1A1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ATP1A1: RNA tissue enhanced (parathyroid gland 1,394 nTPM); high antibody staining in 19 normal tissues; highest cancer staining colorectal cancer (12 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Colorectal cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (aldosterone-producing adrenal cortex adenoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P05023","url":"https://www.uniprot.org/uniprotkb/P05023/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ATP1A1","url":"https://www.intogen.org/search?gene=ATP1A1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ATP1A1 tissue","url":"https://www.proteinatlas.org/ENSG00000163399-ATP1A1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163399 associations","url":"https://platform.opentargets.org/target/ENSG00000163399/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:799","ensembl":"ENSG00000163399","uniprot":"P05023","entrez":"476","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kawakami et al, J. Biochem, 1986, \"Primary structure of the alpha-subunit of human Na,K-ATPase deduced from cDNA sequence\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2430951/","biology":"Catalytic subunit of the Na(+)/K(+)-ATPase pump that hydrolyses ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle against electrochemical gradients. It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane. This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function. Could also be part of an osmosensory signalling pathway that senses body-fluid sodium levels and controls salt intake behaviour as well as voluntary water intake to regulate sodium homeostasis. Location: Cell membrane; Basolateral cell membrane; Cell membrane, sarcolemma; Cell projection, axon (UniProt). Locus 1p13.1 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)"],"targetClass":"oncogene","prevalence":[]},{"id":"atp2b3","kind":"target","name":"ATP2B3","aka":["ATPase plasma membrane Ca2+ transporting 3","Plasma membrane calcium-transporting ATPase 3","PMCA3","CFAP39","SCAX1","CLA2"],"tldr":"ATP2B3 (Plasma membrane calcium-transporting ATPase 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Skin cancer, Lung cancer and 2 more.","summary":"ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels at the presynaptic terminals. Uses ATP as an energy source to transport cytosolic Ca(2+) ions across the plasma membrane to the extracellular compartment. May counter-transport protons, but the mechanism and the stoichiometry of this Ca(2+)/H(+) exchange remains to be established.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.51, genetic association 0.00, somatic mutation 0.85). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:816","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:816"},{"label":"UniProt Q16720","url":"https://www.uniprot.org/uniprotkb/Q16720/entry"},{"label":"NCBI Gene 492","url":"https://www.ncbi.nlm.nih.gov/gene/492"},{"label":"Ensembl ENSG00000067842","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000067842"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","lung-cancer","colorectal","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATP2B3","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:816","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:816","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16720","url":"https://www.uniprot.org/uniprotkb/Q16720/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000067842","url":"https://platform.opentargets.org/target/ENSG00000067842/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: colorectal cancer 0.51, melanoma 0.50, skin cancer 0.55, breast cancer 0.58, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ATP2B3","url":"https://www.intogen.org/search?gene=ATP2B3","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:816","ensembl":"ENSG00000067842","uniprot":"Q16720","entrez":"492","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stauffer T.P. et al, J. Biol. Chem, 1993, \"Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8245032/","biology":"ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels at the presynaptic terminals. Uses ATP as an energy source to transport cytosolic Ca(2+) ions across the plasma membrane to the extracellular compartment. May counter-transport protons, but the mechanism and the stoichiometry of this Ca(2+)/H(+) exchange remains to be established. Location: Cell membrane; Presynaptic cell membrane (UniProt). Locus Xq28 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.50 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"atp4a","kind":"target","name":"ATP4A","aka":["ATPase H+/K+ transporting subunit alpha","Potassium-transporting ATPase alpha chain 1","ATP6A"],"tldr":"ATP4A (Potassium-transporting ATPase alpha chain 1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Gastric & gastro-oesophageal junction cancer and Non-Hodgkin lymphoma.","summary":"The catalytic subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells. Uses ATP as an energy source to pump H(+) ions to the gastric lumen while transporting K(+) ion from the lumen into the cell. Remarkably generates a million-fold proton gradient across the gastric parietal cell membrane, acidifying the gastric juice down to pH 1.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.45, animal model 0.65, genetic association 0.00, clinical 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:819","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:819"},{"label":"UniProt P20648","url":"https://www.uniprot.org/uniprotkb/P20648/entry"},{"label":"NCBI Gene 495","url":"https://www.ncbi.nlm.nih.gov/gene/495"},{"label":"Ensembl ENSG00000105675","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105675"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["gastric","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.91. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATP4A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:819","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:819","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20648","url":"https://www.uniprot.org/uniprotkb/P20648/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105675","url":"https://platform.opentargets.org/target/ENSG00000105675/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: gastric cancer 0.56, non-Hodgkin lymphoma 0.52 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ATP4A: RNA tissue enriched (stomach 1 780 nTPM); high antibody staining in 2 normal tissues. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (Zollinger-Ellison syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ATP4A tissue","url":"https://www.proteinatlas.org/ENSG00000105675-ATP4A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105675 associations","url":"https://platform.opentargets.org/target/ENSG00000105675/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:819","ensembl":"ENSG00000105675","uniprot":"P20648","entrez":"495","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sverdlov E.D. et al, FEBS Lett, 1987, \"The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3036582/","biology":"The catalytic subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells. Uses ATP as an energy source to pump H(+) ions to the gastric lumen while transporting K(+) ion from the lumen into the cell. Remarkably generates a million-fold proton gradient across the gastric parietal cell membrane, acidifying the gastric juice down to pH 1. Within a transport cycle, the transfer of a H(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing (E1) to outward-facing state (E2). The release of the H(+) ion in the stomach lumen is followed by binding of K(+) ion converting the pump conformation back to the E1 state. Location: Apical cell membrane (UniProt). Locus 19q13.12 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.56 with gastric cancer (MONDO_0001056)","Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)"],"targetClass":"other","prevalence":[]},{"id":"atp4b","kind":"target","name":"ATP4B","aka":["ATPase H+/K+ transporting subunit beta","Potassium-transporting ATPase subunit beta","ATP6B"],"tldr":"ATP4B (Potassium-transporting ATPase subunit beta) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Gastric & gastro-oesophageal junction cancer and Non-Hodgkin lymphoma.","summary":"The beta subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells. Plays a structural and regulatory role in the assembly and membrane targeting of a functionally active pump. Within a transport cycle, the transfer of a H(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation of the alpha subunit that shifts the pump conformation from inward-facing (E1) to outward-facing state (E2).\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.78, animal model 0.56, genetic association 0.00, clinical 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:820"},{"label":"UniProt P51164","url":"https://www.uniprot.org/uniprotkb/P51164/entry"},{"label":"NCBI Gene 496","url":"https://www.ncbi.nlm.nih.gov/gene/496"},{"label":"Ensembl ENSG00000186009","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186009"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["gastric","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.91. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATP4B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:820","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51164","url":"https://www.uniprot.org/uniprotkb/P51164/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000186009","url":"https://platform.opentargets.org/target/ENSG00000186009/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: gastric cancer 0.56, non-Hodgkin lymphoma 0.52 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ATP4B: RNA tissue enriched (stomach 1 1,002 nTPM); high antibody staining in 1 normal tissue. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (Zollinger-Ellison syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ATP4B tissue","url":"https://www.proteinatlas.org/ENSG00000186009-ATP4B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000186009 associations","url":"https://platform.opentargets.org/target/ENSG00000186009/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:820","ensembl":"ENSG00000186009","uniprot":"P51164","entrez":"496","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ma J.-Y. et al, Biochem. Biophys. Res. Commun, 1991, \"cDNA cloning of the beta-subunit of the human gastric H,K-ATPase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1656976/","biology":"The beta subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells. Plays a structural and regulatory role in the assembly and membrane targeting of a functionally active pump. Within a transport cycle, the transfer of a H(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation of the alpha subunit that shifts the pump conformation from inward-facing (E1) to outward-facing state (E2). Interacts with the phosphorylation domain of the alpha subunit and functions as a ratchet, stabilising the lumenal-open E2 conformation and preventing the reverse reaction of the transport cycle. Location: Apical cell membrane; Cell membrane (UniProt). Locus 13q34 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.56 with gastric cancer (MONDO_0001056)","Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)"],"targetClass":"other","prevalence":[]},{"id":"atp7b","kind":"target","name":"ATP7B","aka":["ATPase copper transporting beta","Copper-transporting ATPase 2"],"tldr":"ATP7B (Copper-transporting ATPase 2) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer.","summary":"Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 1 variant, naming Cisplatin, Tranilast, Telmisartan and Amphotericin B.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:870","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:870"},{"label":"UniProt P35670","url":"https://www.uniprot.org/uniprotkb/P35670/entry"},{"label":"NCBI Gene 540","url":"https://www.ncbi.nlm.nih.gov/gene/540"},{"label":"Ensembl ENSG00000123191","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123191"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATP7B","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:870","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:870","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35670","url":"https://www.uniprot.org/uniprotkb/P35670/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATP7B","url":"https://civicdb.org/features/519","note":"4 evidence items, 0 assertions, 1 variants; diseases: Ovarian Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ATP7B: RNA tissue enhanced (intestine 10 nTPM); high antibody staining in 12 normal tissues; highest cancer staining ovarian cancer (5 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ATP7B tissue","url":"https://www.proteinatlas.org/ENSG00000123191-ATP7B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000123191 associations","url":"https://platform.opentargets.org/target/ENSG00000123191/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:870","ensembl":"ENSG00000123191","uniprot":"P35670","entrez":"540","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bull P.C. et al, Nat. Genet, 1993, \"The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8298639/","biology":"Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload. Location: Golgi apparatus, trans-Golgi network membrane; Late endosome; Golgi apparatus membrane; Cytoplasm (UniProt). Locus 13q14.3 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"atr","kind":"target","name":"ATR","aka":[],"tldr":"ATR is a DNA-damage alarm kinase. Blocking it makes tumours with broken repair systems collapse under their own replication stress.","summary":"ATR is a PI3K-like kinase activated by single-stranded DNA at stalled replication forks; it signals through CHK1 to pause the cell cycle and stabilise forks. Tumours with ATM loss, high replication stress or PARP-inhibitor resistance depend on this alarm, so blocking ATR can make them collapse under their own replication stress. ATR inhibitors (ceralasertib, camonsertib, elimusertib) are in phase 2 and 3, notably ceralasertib with durvalumab in NSCLC after immunotherapy (LATIFY) and in ATM-deficient tumours; ATM loss or mutation is found in about 5 to 10 percent of lung adenocarcinomas. No approval has yet been granted, and myelosuppression limits how freely ATR inhibitors can be combined with chemotherapy or PARP inhibitors. Defining a predictive biomarker beyond ATM loss is the key open problem. For a newcomer: ATR is a DNA-damage alarm that broken-repair tumours cannot afford to lose.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Ataxia_telangiectasia_and_Rad3_related","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Ataxia_telangiectasia_and_Rad3_related"}],"tags":["ddr"],"related":[],"cancers":["nsclc","ovarian","tnbc"],"sections":[],"technologies":[],"targets":[],"drugs":["ceralasertib"],"companies":["callio-therapeutics","repare-therapeutics"],"institutions":[],"pathways":["ddr","dna-replication-licensing"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"ATR","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists ATR among essential proteins and finds the RNA at low tissue specificity; the 1 medicine aimed at it (Ceralasertib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA ATR: RNA low tissue specificity; no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Ovarian cancer, Breast cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ATR tissue","url":"https://www.proteinatlas.org/ENSG00000175054-ATR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000175054 associations","url":"https://platform.opentargets.org/target/ENSG00000175054/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:882","ensembl":"ENSG00000175054","uniprot":"Q13535","entrez":"545","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bentley N.J. et al, EMBO J, 1996, \"The Schizosaccharomyces pombe rad3 checkpoint gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8978690/","biology":"PI3K-like kinase activated by single-stranded DNA at stalled forks; signals via CHK1.","whereFound":["Tumours with ATM loss, replication stress, or PARP-inhibitor resistance"],"targetClass":"kinase","prevalence":[{"cancerId":"nsclc","pct":"5-10","measure":"ATM loss/mutation (sensitising context)","source":"https://www.cbioportal.org/study/summary?id=luad_tcga_pan_can_atlas_2018"},{"cancerId":"ovarian","pct":"n/a","measure":"Replication-stress context; no expression threshold","source":"https://en.wikipedia.org/wiki/Ataxia_telangiectasia_and_Rad3_related"}]},{"id":"atrx","kind":"target","name":"ATRX","aka":["ATRX chromatin remodeler","Chromatin remodeler ATRX","XH2","RAD54","MRX52"],"tldr":"ATRX (Chromatin remodeler ATRX) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas, Neuroendocrine tumours, Adrenocortical carcinoma and 5 more.","summary":"Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures.\n\nCIViC holds 11 clinical evidence items and 0 assertions across 6 variants, naming Temozolomide, Olaparib, Talazoparib and Cisplatin and others. Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.61, genetic association 0.72, somatic mutation 0.98). IntOGen calls it a driver in 27 cohorts (2 activating, 25 loss-of-function), covering Adrenocortical Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Glioblastoma, Glioblastoma Multiforme, High-Grade Glioma, NOS, Low-Grade Glioma, NOS and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:886","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:886"},{"label":"UniProt P46100","url":"https://www.uniprot.org/uniprotkb/P46100/entry"},{"label":"NCBI Gene 546","url":"https://www.ncbi.nlm.nih.gov/gene/546"},{"label":"Ensembl ENSG00000085224","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085224"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["sarcoma","neuroendocrine","adrenocortical","rcc","ovarian","breast-cancer","colorectal","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["telomere-maintenance"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 10 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 25 cohorts; CIViC holds 11 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Malignant Astrocytoma; High-Grade Glioma, NOS; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATRX","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:886","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:886","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P46100","url":"https://www.uniprot.org/uniprotkb/P46100/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATRX","url":"https://civicdb.org/features/525","note":"11 evidence items, 0 assertions, 6 variants; diseases: Glioblastoma, Malignant Astrocytoma, Neuroblastoma, Osteosarcoma, Cancer and 1 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000085224","url":"https://platform.opentargets.org/target/ENSG00000085224/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.56, renal cell carcinoma 0.60, melanoma 0.59, glioblastoma 0.63, sarcoma 0.70, neuroendocrine neoplasm 0.63 (GraphQL API, CC0)"},{"label":"IntOGen ATRX","url":"https://www.intogen.org/search?gene=ATRX","note":"driver in 27 cohorts (Act 2, LoF 25); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ATRX: RNA low tissue specificity; high antibody staining in 36 normal tissues; highest cancer staining melanoma (6 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Neuroendocrine tumours, Adrenocortical carcinoma, Renal cell carcinoma, Ovarian cancer, Breast cancer (all types), Colorectal cancer and more); Open Targets associates it with 4 specific cancer types at or above 0.5 (alpha thalassemia-X-linked intellectual disability syndrome, adrenal cortex carcinoma, leiomyosarcoma, glioblastoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P46100","url":"https://www.uniprot.org/uniprotkb/P46100/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATRX","url":"https://civicdb.org/features/525","note":"11 evidence items, 0 assertions, 6 variants; diseases: Glioblastoma, Malignant Astrocytoma, Neuroblastoma, Osteosarcoma, Cancer and 1 more (GraphQL API, CC0)"},{"label":"IntOGen ATRX","url":"https://www.intogen.org/search?gene=ATRX","note":"driver in 27 cohorts (Act 2, LoF 25); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ATRX tissue","url":"https://www.proteinatlas.org/ENSG00000085224-ATRX/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000085224 associations","url":"https://platform.opentargets.org/target/ENSG00000085224/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:886","ensembl":"ENSG00000085224","uniprot":"P46100","entrez":"546","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stayton C.L. et al, Hum. Mol. Genet, 1994, \"Cloning and characterization of a new human Xq13 gene, encoding a putative helicase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7874112/","biology":"Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilising G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyses the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Location: Nucleus; Chromosome, telomere; Nucleus, PML body (UniProt). Locus Xq21.1 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.70 with sarcoma (MONDO_0005089); IntOGen driver in 5 cohorts (LMS, SARCNOS, SOFT_TISSUE)","Neuroendocrine tumours: Open Targets association 0.63 with neuroendocrine neoplasm (MONDO_0019496); IntOGen driver in 1 cohort (PANET)","Adrenocortical carcinoma: IntOGen driver in 3 cohorts (ACC)","Renal cell carcinoma: Open Targets association 0.60 with renal cell carcinoma (MONDO_0005086)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"atxn1l","kind":"target","name":"ATXN1L","aka":["ataxin 1 like","Ataxin-1-like","BOAT1"],"tldr":"ATXN1L (Ataxin-1-like) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma and Melanoma.","summary":"Chromatin-binding factor that repress Notch signalling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1).\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Vemurafenib, Trametinib and Dabrafenib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:33279","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33279"},{"label":"UniProt P0C7T5","url":"https://www.uniprot.org/uniprotkb/P0C7T5/entry"},{"label":"NCBI Gene 342371","url":"https://www.ncbi.nlm.nih.gov/gene/342371"},{"label":"Ensembl ENSG00000224470","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000224470"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["pancreatic","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATXN1L","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:33279","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33279","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0C7T5","url":"https://www.uniprot.org/uniprotkb/P0C7T5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATXN1L","url":"https://civicdb.org/features/22231","note":"2 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Pancreatic Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ATXN1L: RNA low tissue specificity; no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ATXN1L tissue","url":"https://www.proteinatlas.org/ENSG00000224470-ATXN1L/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000224470 associations","url":"https://platform.opentargets.org/target/ENSG00000224470/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:33279","ensembl":"ENSG00000224470","uniprot":"P0C7T5","entrez":"342371","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Martin et al, Nature, 2004, \"The sequence and analysis of duplication-rich human chromosome 16\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15616553/","biology":"Chromatin-binding factor that repress Notch signalling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Can suppress ATXN1 cytotoxicity in spinocerebellar ataxia type 1 (SCA1). In concert with CIC and ATXN1, involved in brain development. Location: Nucleus; Cell projection, dendrite (UniProt). Locus 16q22.2 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Melanoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"atxn7","kind":"target","name":"ATXN7","aka":["ataxin 7","Ataxin-7","OPCA3","ADCAII","SGF73","SCA7"],"tldr":"ATXN7 (Ataxin-7) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Thyroid cancer.","summary":"Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex. Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation. Probably involved in tethering the deubiquitination module within the SAGA complex.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 5 variants.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10560","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10560"},{"label":"UniProt O15265","url":"https://www.uniprot.org/uniprotkb/O15265/entry"},{"label":"NCBI Gene 6314","url":"https://www.ncbi.nlm.nih.gov/gene/6314"},{"label":"Ensembl ENSG00000163635","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163635"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATXN7","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10560","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10560","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15265","url":"https://www.uniprot.org/uniprotkb/O15265/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATXN7","url":"https://civicdb.org/features/5112","note":"4 evidence items, 0 assertions, 5 variants; diseases: Thyroid Cancer, Thyroid Gland Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ATXN7: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Thyroid cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ATXN7 tissue","url":"https://www.proteinatlas.org/ENSG00000163635-ATXN7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163635 associations","url":"https://platform.opentargets.org/target/ENSG00000163635/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10560","ensembl":"ENSG00000163635","uniprot":"O15265","entrez":"6314","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: David et al, Nat. Genet, 1997, \"Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9288099/","biology":"Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex. Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation. Probably involved in tethering the deubiquitination module within the SAGA complex. Necessary for microtubule cytoskeleton stabilisation. Involved in neurodegeneration. Location: Nucleus; Nucleus, nucleolus; Nucleus matrix; Cytoplasm, cytoskeleton (UniProt). Locus 3p14.1 (HGNC).","whereFound":["Thyroid cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"aurka","kind":"target","name":"AURKA","aka":["aurora kinase A","Aurora kinase A","AurA","STK7","ARK1","PPP1R47","STK15","STK6"],"tldr":"AURKA (Aurora kinase A) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer, Ovarian cancer and Non-small-cell lung cancer.","summary":"Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression. Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis. Required for normal spindle positioning during mitosis and for the localisation of NUMA1 and DCTN1 to the cell cortex during metaphase.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 3 variants, naming Cisplatin, Alisertib, Paclitaxel and Platinum Compound and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11393","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11393"},{"label":"UniProt O14965","url":"https://www.uniprot.org/uniprotkb/O14965/entry"},{"label":"NCBI Gene 6790","url":"https://www.ncbi.nlm.nih.gov/gene/6790"},{"label":"Ensembl ENSG00000087586","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000087586"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["esophageal","ovarian","nsclc","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["myc"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-beltran-nepc-aurka-mycn-cancer-discov-2011"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 6 therapies; CIViC holds 7 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Cervical Adenocarcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AURKA","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11393","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11393","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14965","url":"https://www.uniprot.org/uniprotkb/O14965/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene AURKA","url":"https://civicdb.org/features/61","note":"7 evidence items, 0 assertions, 3 variants; diseases: Oesophagus Adenocarcinoma, Lung Non-small Cell Carcinoma, Ovarian Carcinoma, Ovarian Serous Carcinoma, Oesophagus Squamous Cell Carcinoma and 1 more (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists AURKA among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA AURKA: RNA tissue enhanced (lymphoid tissue 21 nTPM, testis 29 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (2 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Oesophageal cancer, Ovarian cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas AURKA tissue","url":"https://www.proteinatlas.org/ENSG00000087586-AURKA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000087586 associations","url":"https://platform.opentargets.org/target/ENSG00000087586/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11393","ensembl":"ENSG00000087586","uniprot":"O14965","entrez":"6790","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kimura et al, J. Biol. Chem, 1997, \"Cell cycle-dependent expression and spindle pole localization of a novel human protein kinase, Aik, related to Aurora of Drosophila and yeast Ipl1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9153231/","biology":"Mitotic serine/threonine kinase that contributes to the regulation of cell cycle progression. Associates with the centrosome and the spindle microtubules during mitosis and plays a critical role in various mitotic events including the establishment of mitotic spindle, centrosome duplication, centrosome separation as well as maturation, chromosomal alignment, spindle assembly checkpoint, and cytokinesis. Required for normal spindle positioning during mitosis and for the localisation of NUMA1 and DCTN1 to the cell cortex during metaphase. Required for initial activation of CDK1 at centrosomes. Phosphorylates numerous target proteins, including ARHGEF2, BORA, BRCA1, CDC25B, DLGP5, HDAC6, KIF2A, LATS2, NDEL1, PARD3, PPP1R2, PLK1, RASSF1, TACC3, p53/TP53 and TPX2. Phosphorylates MCRS1 which is required for MCRS1-mediated kinetochore fibre assembly and mitotic progression. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle pole; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole; Cell projection, neuron projection (UniProt). Locus 20q13.2 (HGNC).","whereFound":["Oesophageal cancer: CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease","Prostate cancer: co-amplification, enriched in neuroendocrine disease 0.1-4% depending on disease state"],"targetClass":"kinase","prevalence":[{"cancerId":"prostate","pct":"0.1-4","measure":"Co-amplification, enriched in neuroendocrine disease","source":"https://doi.org/10.1158/2159-8290.CD-11-0130","note":"Overexpression and gene amplification of AURKA and MYCN were found in 40% of neuroendocrine prostate cancers and 5% of adenocarcinomas in a profiling series of 7 neuroendocrine, 30 adenocarcinoma and 5 benign tissues validated by immunohistochemistry and fluorescence in situ hybridisation on 37 neuroendocrine, 169 adenocarcinoma and 22 benign samples (Beltran 2011). cBioPortal high-level amplification: AURKA 18 of 444, 4.1%, in prad_su2c_2019 (where 3q and 20q gains inflate the call); 2 of 2,260, 0.1%, in prostate_msk_2024. MYCN amplification 8 of 444, 1.8%, in prad_su2c_2019 and 5 of 2,260, 0.2%, in prostate_msk_2024."}]},{"id":"aurkb","kind":"target","name":"AURKB","aka":["aurora kinase B","Aurora kinase B","Aik2","IPL1","AurB","AIM-1","ARK2","STK5","PPP1R48","STK12"],"tldr":"AURKB (Aurora kinase B) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Head and neck squamous cell carcinoma.","summary":"Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilisation and spindle assembly. Involved in the bipolar attachment of spindle microtubules to kinetochores and is a key regulator for the onset of cytokinesis during mitosis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Alisertib, Barasertib and Copanlisib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11390","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11390"},{"label":"UniProt Q96GD4","url":"https://www.uniprot.org/uniprotkb/Q96GD4/entry"},{"label":"NCBI Gene 9212","url":"https://www.ncbi.nlm.nih.gov/gene/9212"},{"label":"Ensembl ENSG00000178999","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178999"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AURKB","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11390","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11390","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96GD4","url":"https://www.uniprot.org/uniprotkb/Q96GD4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene AURKB","url":"https://civicdb.org/features/7282","note":"1 evidence items, 0 assertions, 1 variants; diseases: Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists AURKB among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA AURKB: RNA tissue enhanced (bone marrow 42 nTPM, lymphoid tissue 56 nTPM); blood lineage group enriched (B-cells 3 nTPM, T-cells 8 nTPM); high antibody staining in 6 normal tissues; highest cancer staining colorectal cancer (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas AURKB tissue","url":"https://www.proteinatlas.org/ENSG00000178999-AURKB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000178999 associations","url":"https://platform.opentargets.org/target/ENSG00000178999/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11390","ensembl":"ENSG00000178999","uniprot":"Q96GD4","entrez":"9212","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, 1997, \"Cloning of a novel human gene homologous to mouse STK-1\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96GD4/entry","biology":"Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilisation and spindle assembly. Involved in the bipolar attachment of spindle microtubules to kinetochores and is a key regulator for the onset of cytokinesis during mitosis. Required for central/midzone spindle assembly and cleavage furrow formation. Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: phosphorylates CHMP4C, leading to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signalling is terminated at late cytokinesis. AURKB phosphorylates the CPC complex subunits BIRC5/survivin, CDCA8/borealin and INCENP. Location: Nucleus; Chromosome; Chromosome, centromere; Chromosome, centromere, kinetochore (UniProt). Locus 17p13.1 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"axin1","kind":"target","name":"AXIN1","aka":["axin 1","Axin-1","PPP1R49"],"tldr":"AXIN1 (Axin-1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Oesophageal cancer, Skin cancer and 5 more.","summary":"Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signalling. Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signalling pathway and ventralise embryos, but also dorsalises embryos by activating a Wnt-independent JNK signalling pathway. In Wnt signalling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B.\n\nOpen Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.94, literature 0.97, genetic association 0.71, somatic mutation 0.93). IntOGen calls it a driver in 9 cohorts (0 activating, 9 loss-of-function), covering Oesophageal Adenocarcinoma, Glioblastoma Multiforme, Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:903","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:903"},{"label":"UniProt O15169","url":"https://www.uniprot.org/uniprotkb/O15169/entry"},{"label":"NCBI Gene 8312","url":"https://www.ncbi.nlm.nih.gov/gene/8312"},{"label":"Ensembl ENSG00000103126","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103126"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","esophageal","skin-cancer","lung-cancer","leukaemia","oesophageal-adenocarcinoma","glioblastoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hepatocellular-carcinoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 9 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AXIN1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:903","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:903","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15169","url":"https://www.uniprot.org/uniprotkb/O15169/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000103126","url":"https://platform.opentargets.org/target/ENSG00000103126/associations","note":"association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: hepatocellular carcinoma 0.79, melanoma 0.55, skin cancer 0.55, lung cancer 0.54, leukaemia 0.50 (GraphQL API, CC0)"},{"label":"IntOGen AXIN1","url":"https://www.intogen.org/search?gene=AXIN1","note":"driver in 9 cohorts (Act 0, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:903","ensembl":"ENSG00000103126","uniprot":"O15169","entrez":"8312","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zeng et al, Cell, 1997, \"The mouse Fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9230313/","biology":"Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signalling. Controls dorsoventral patterning via two opposing effects; down-regulates CTNNB1 to inhibit the Wnt signalling pathway and ventralise embryos, but also dorsalises embryos by activating a Wnt-independent JNK signalling pathway. In Wnt signalling, probably facilitates the phosphorylation of CTNNB1 and APC by GSK3B. Enhances TGF-beta signalling by recruiting the RNF111 E3 ubiquitin ligase and promoting the degradation of inhibitory SMAD7. Also a component of the AXIN1-HIPK2-TP53 complex which controls cell growth, apoptosis and development. Facilitates the phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation. Location: Cytoplasm; Nucleus; Membrane; Cell membrane (UniProt). Locus 16p13.3 (HGNC).","whereFound":["Hepatocellular carcinoma: Open Targets association 0.79 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 7 cohorts (HCC)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Leukaemia: Open Targets association 0.50 with leukaemia (MONDO_0005059)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"axin2","kind":"target","name":"AXIN2","aka":["axin 2","Axin-2","MGC126582","DKFZp781B0869"],"tldr":"AXIN2 (Axin-2) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Skin cancer, Lung cancer and 2 more.","summary":"Inhibitor of the Wnt signalling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Vemurafenib and Cobimetinib. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.96, genetic association 0.87, somatic mutation 0.92, animal model 0.38).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:904","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:904"},{"label":"UniProt Q9Y2T1","url":"https://www.uniprot.org/uniprotkb/Q9Y2T1/entry"},{"label":"NCBI Gene 8313","url":"https://www.ncbi.nlm.nih.gov/gene/8313"},{"label":"Ensembl ENSG00000168646","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168646"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","skin-cancer","lung-cancer","neuroendocrine","cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Ganglioglioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"AXIN2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:904","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:904","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y2T1","url":"https://www.uniprot.org/uniprotkb/Q9Y2T1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene AXIN2","url":"https://civicdb.org/features/6572","note":"2 evidence items, 0 assertions, 2 variants; diseases: Chronic Lymphocytic Leukaemia, Ganglioglioma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000168646","url":"https://platform.opentargets.org/target/ENSG00000168646/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: colorectal cancer 0.73, neuroendocrine neoplasm 0.51, skin cancer 0.54, lung cancer 0.53 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA AXIN2: RNA low tissue specificity; high antibody staining in 15 normal tissues; highest cancer staining glioma (7 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Skin cancer (all types), Lung cancer (all types), Neuroendocrine tumours, Leukaemia); Open Targets associates it with 4 specific cancer types at or above 0.5 (oligodontia-cancer predisposition syndrome, colorectal cancer, AXIN2-related attenuated familial adenomatous polyposis, hereditary neoplastic syndrome). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas AXIN2 tissue","url":"https://www.proteinatlas.org/ENSG00000168646-AXIN2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000168646 associations","url":"https://platform.opentargets.org/target/ENSG00000168646/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:904","ensembl":"ENSG00000168646","uniprot":"Q9Y2T1","entrez":"8313","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mai et al, Genomics, 1999, \"Cloning of the human homolog of conductin (AXIN2), a gene mapping to chromosome 17q23-q24\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10049590/","biology":"Inhibitor of the Wnt signalling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B. Location: Cytoplasm (UniProt). Locus 17q24.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.73 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Neuroendocrine tumours: Open Targets association 0.51 with neuroendocrine neoplasm (MONDO_0019496)","Chronic lymphocytic leukaemia: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"axl","kind":"target","name":"AXL","aka":[],"tldr":"A receptor that helps cancer cells survive stress, resist treatment and spread. Cabozantinib is among the multi-kinase drugs that block it, and dedicated AXL inhibitors and antibody-drug conjugates are in trials.","summary":"AXL, a TAM-family receptor activated by the ligand GAS6, drives epithelial-to-mesenchymal transition, invasion and immune suppression and is switched on as cancers become resistant to EGFR, ALK and BRAF inhibitors and to chemotherapy. Cabozantinib inhibits AXL alongside MET and VEGFR2, which is thought to contribute to its activity in kidney, liver and thyroid cancers after other treatments. Selective AXL inhibitors such as bemcentinib and the AXL-directed antibody-drug conjugate enapotamab vedotin have been tested without a clear win so far, and AXL remains a resistance target of high interest.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/AXL_receptor_tyrosine_kinase","links":[{"label":"UniProt P30530: AXL","url":"https://www.uniprot.org/uniprotkb/P30530/entry"}],"tags":[],"related":[],"cancers":["rcc","hcc","thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":["cabozantinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"AXL","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Cabozantinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA AXL: RNA low tissue specificity; blood lineage group enriched (dendritic cells 26 nTPM, NK-cells 11 nTPM); no normal tissue stained high. Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Renal cell carcinoma, Hepatocellular carcinoma, Thyroid cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas AXL tissue","url":"https://www.proteinatlas.org/ENSG00000167601-AXL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167601 associations","url":"https://platform.opentargets.org/target/ENSG00000167601/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:905","ensembl":"ENSG00000167601","uniprot":"P30530","entrez":"558","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Partanen et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Putative tyrosine kinases expressed in K-562 human leukemia cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2247464/","biology":"TAM-family receptor tyrosine kinase activated by GAS6; mediates mesenchymal transition and acquired resistance to targeted therapy.","whereFound":["Kidney, liver and thyroid cancers treated with cabozantinib","Drug-resistant lung cancer, melanoma and triple-negative breast cancer"],"targetClass":"kinase","prevalence":[{"cancerId":"nsclc","pct":"about 20","measure":"AXL activation among EGFR-mutant lung cancers resistant to EGFR inhibitors","source":"https://doi.org/10.1038/ng.2330"}]},{"id":"b2m","kind":"target","name":"B2M","aka":["beta-2-microglobulin","Beta-2-microglobulin"],"tldr":"B2M (Beta-2-microglobulin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Colorectal cancer, Lung cancer and 5 more.","summary":"Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 4 variants, naming Pembrolizumab, Nivolumab, Anti-PD-L1 Monoclonal Antibody and Immune Checkpoint Inhibitor and others. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.61, genetic association 0.00, somatic mutation 0.88). IntOGen calls it a driver in 10 cohorts (4 activating, 6 loss-of-function), covering Cervical Squamous Cell Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Head and Neck Squamous Cell Carcinoma, Melanoma, Malignant Lymphoma, Non-Hodgkin Lymphoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:914","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:914"},{"label":"UniProt P61769","url":"https://www.uniprot.org/uniprotkb/P61769/entry"},{"label":"NCBI Gene 567","url":"https://www.ncbi.nlm.nih.gov/gene/567"},{"label":"Ensembl ENSG00000166710","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166710"},{"label":"Sakata-Yanagimoto et al., Nat Genet 2014: somatic RHOA G17V in angioimmunoblastic T-cell lymphoma","url":"https://doi.org/10.1038/ng.2872"},{"label":"Palomero et al., Nat Genet 2014: recurrent mutations in epigenetic regulators, RHOA and FYN in peripheral T-cell lymphoma","url":"https://doi.org/10.1038/ng.2873"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","colorectal","lung-cancer","head-and-neck","cervical","dlbcl","melanoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["antigen-presentation-immunoediting","epigenetic-reprogramming","clonal-haematopoiesis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-grasso-immune-evasion-colorectal-cancer-discov-2018"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 5 therapies; IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts; CIViC holds 7 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: inactivating mutation in 3 to 7% overall but 31.0% of MSI-high against 1.5% of microsatellite-stable samples in crc_msk_2026, with biallelic B2M and HLA loss by copy-number change and copy-neutral loss of heterozygosity documented across 1,211 tumours (Grasso 2018). It is an immunoediting scar and the best available explanation for the mismatch repair deficient patients who do not respond to a checkpoint inhibitor.","Lymphoma, RHOA G17V and the epigenetic mutations of T-follicular-helper lymphoma: A single substitution, G17V, in the small GTPase RHOA produces a protein that does not bind GTP and that blocks the wild-type protein as well. It is specific to the tumour cell, whereas the TET2 mutations that accompany it are found in non-tumour haematopoietic cells too, which places the TET2 lesion earlier, in the stem cell, and makes this lymphoma a disease that grows out of clonal haematopoiesis. Frequency: RHOA G17V in 68% of angioimmunoblastic T-cell lymphoma samples, with every G17V case also carrying a TET2 mutation (Sakata-Yanagimoto 2014); independently, in 22 of 35 angioimmunoblastic cases, 67%, and 8 of 44 peripheral T-cell lymphoma not otherwise specified, 18%, alongside recurrent TET2, DNMT3A and IDH2 mutations and less frequent FYN, ATM, B2M and CD58 lesions (Palomero 2014). What it changes about treatment: Not through an approved test. The hypomethylating agents are used in this disease on the strength of the TET2 and DNMT3A biology rather than on a mutation result, and azacitidine-containing regimens have shown activity in T-follicular-helper histology specifically."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"B2M","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:914","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:914","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P61769","url":"https://www.uniprot.org/uniprotkb/P61769/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene B2M","url":"https://civicdb.org/features/537","note":"7 evidence items, 0 assertions, 4 variants; diseases: Colorectal Cancer, Melanoma, Lung Cancer, Mantle Cell Lymphoma, Diffuse Large B-cell Lymphoma and 1 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000166710","url":"https://platform.opentargets.org/target/ENSG00000166710/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.56, melanoma 0.57, diffuse large B-cell lymphoma 0.67, non-Hodgkin lymphoma 0.72 (GraphQL API, CC0)"},{"label":"IntOGen B2M","url":"https://www.intogen.org/search?gene=B2M","note":"driver in 10 cohorts (Act 4, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA B2M: RNA low tissue specificity; high antibody staining in 7 normal tissues; highest cancer staining urothelial cancer (2 of 11 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Colorectal cancer, Lung cancer (all types), Head and neck squamous cell carcinoma, Cervical cancer, Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P61769","url":"https://www.uniprot.org/uniprotkb/P61769/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene B2M","url":"https://civicdb.org/features/537","note":"7 evidence items, 0 assertions, 4 variants; diseases: Colorectal Cancer, Melanoma, Lung Cancer, Mantle Cell Lymphoma, Diffuse Large B-cell Lymphoma and 1 more (GraphQL API, CC0)"},{"label":"IntOGen B2M","url":"https://www.intogen.org/search?gene=B2M","note":"driver in 10 cohorts (Act 4, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas B2M tissue","url":"https://www.proteinatlas.org/ENSG00000166710-B2M/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000166710 associations","url":"https://platform.opentargets.org/target/ENSG00000166710/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:914","ensembl":"ENSG00000166710","uniprot":"P61769","entrez":"567","firstDescribed":1973,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cunningham B.A. et al, Biochemistry, 1973, \"The complete amino acid sequence of beta 2-microglobulin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/4586824/","biology":"Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation. Location: Secreted; Cell surface (UniProt). Locus 15q21.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.72 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Lung cancer: CIViC evidence names this disease","Head and neck squamous cell carcinoma: IntOGen driver in 2 cohorts (HNSC)","Cervical cancer: IntOGen driver in 1 cohort (CESC)","Diffuse large B-cell lymphoma: Open Targets association 0.67 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Colorectal cancer: inactivating mutation or deletion (antigen presentation) 3-7%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"colorectal","pct":"3-7","measure":"Inactivating mutation or deletion (antigen presentation)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 335 of 7,237, 4.6%, in crc_msk_2026; 39 of 1,134, 3.4%, in crc_msk_2017; 61 of 1,516, 4.0%, in crc_eo_2020; 24 of 534, 4.5%, plus 13 deep deletions of 592, in coadread_tcga_pan_can_atlas_2018; 44 of 619, 7.1%, in coadread_dfci_2016."}]},{"id":"b4galt1","kind":"target","name":"B4GALT1","aka":["beta-1,4-galactosyltransferase 1","Beta-1,4-galactosyltransferase 1","beta4Gal-T1","GGTB2"],"tldr":"B4GALT1 (Beta-1,4-galactosyltransferase 1) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma.","summary":"Galactosyltransferase acting in the Golgi stacks. Catalyses the transfer of galactose (Gal) from UDP-alpha-D-galactose in beta(1->4) linkage to the non-reducing terminal N-acetylglucosamine (GlcNAc) moieties of glycolipids and complex-type N-linked glycans. Adds one Gal residue to both GlcNAc beta(1->2)-linked to the alpha(1->3) and alpha(1->6) mannose antennae of complex-type N-glycans, enabling the formation of mono- and di-galactosylated glycoforms.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:924","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:924"},{"label":"UniProt P15291","url":"https://www.uniprot.org/uniprotkb/P15291/entry"},{"label":"NCBI Gene 2683","url":"https://www.ncbi.nlm.nih.gov/gene/2683"},{"label":"Ensembl ENSG00000086062","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000086062"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"B4GALT1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:924","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:924","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15291","url":"https://www.uniprot.org/uniprotkb/P15291/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene B4GALT1","url":"https://civicdb.org/features/2239","note":"1 evidence items, 0 assertions, 1 variants; diseases: Renal Cell Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA B4GALT1: RNA low tissue specificity; high antibody staining in 24 normal tissues; highest cancer staining prostate cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas B4GALT1 tissue","url":"https://www.proteinatlas.org/ENSG00000086062-B4GALT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000086062 associations","url":"https://platform.opentargets.org/target/ENSG00000086062/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:924","ensembl":"ENSG00000086062","uniprot":"P15291","entrez":"2683","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Appert H.E. et al, Biochem. Biophys. Res. Commun, 1986, \"Isolation of a cDNA coding for human galactosyltransferase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3094506/","biology":"Galactosyltransferase acting in the Golgi stacks. Catalyses the transfer of galactose (Gal) from UDP-alpha-D-galactose in beta(1->4) linkage to the non-reducing terminal N-acetylglucosamine (GlcNAc) moieties of glycolipids and complex-type N-linked glycans. Adds one Gal residue to both GlcNAc beta(1->2)-linked to the alpha(1->3) and alpha(1->6) mannose antennae of complex-type N-glycans, enabling the formation of mono- and di-galactosylated glycoforms. Galactosylates complex-type N-glycans attached on the fragment crystallizable (Fc) of immunoglobulin-gamma isotypes (IgGs), a prerequisite for antibody glycan sialylation and related anti-inflammatory effector functions. Can also transfer a Gal residue to free GlcNAc to form N-acetyllactosamine. With LALBA/alpha-lactalbumin forms the lactose synthase complex responsible for production of large amounts of lactose in the lactating mammary gland. Location: Golgi apparatus, Golgi stack membrane; Cell membrane; Cell surface; Cell projection, filopodium (UniProt). Locus 9p21.1 (HGNC).","whereFound":["Renal cell carcinoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"b7h3","kind":"target","name":"B7-H3","aka":[],"tldr":"B7-H3 is an immune checkpoint-like surface protein found on 60 to 70% of small-cell lung cancers and 80 to 90% of castration-resistant prostate cancers, with little on normal tissue. It is used as an ADC address, chiefly by ifinatamab deruxtecan, now in phase 3 in small-cell lung cancer; whether blocking its immune-dampening role adds anything beyond payload delivery is unresolved.","summary":"B7-H3 (CD276) is an immune checkpoint-like molecule broadly overexpressed in solid tumours with limited normal expression; its function is debated, inhibiting T-cell activation and promoting tumour cell migration. Expression is more homogeneous than many ADC targets, found in 60-70% of small-cell lung cancer and 80-90% of castration-resistant prostate cancer by IHC, as well as head and neck and paediatric solid tumours. Ifinatamab deruxtecan (I-DXd) has shown high response rates in small-cell lung cancer and is in phase 3. B7-H3 is also pursued with radioligands and CAR-T. Whether its immune-dampening role means antibodies against it add an immunological benefit beyond payload delivery is unresolved. The simple version is a widely present tumour surface protein now used mainly as an address for ADCs.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD276","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD276"}],"tags":["adc-target"],"related":["b7-h3-expression"],"cancers":["sclc","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["yl201","qlc5508","bnt324","bcb-276"],"companies":["dualitybio","myricx-bio"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CD276","role":["immune-checkpoint"],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 5 cell-killing or cell-finding medicines (YL201, QLC5508, BNT324 and more) aim at the antigen, which HPA finds stained high in 1 normal tissue; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA CD276: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining skin cancer (7 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD276 tissue","url":"https://www.proteinatlas.org/ENSG00000103855-CD276/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CD276 pathology","url":"https://www.proteinatlas.org/ENSG00000103855-CD276/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000103855 associations","url":"https://platform.opentargets.org/target/ENSG00000103855/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:19137","ensembl":"ENSG00000103855","uniprot":"Q5ZPR3","entrez":"80381","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chapoval A.I. et al, Nat. Immunol, 2001, \"B7-H3: a costimulatory molecule for T cell activation and IFN-gamma production\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11224528/","biology":"Function debated: inhibits T-cell activation, promotes tumour cell migration. Expression is more homogeneous than many ADC targets.","whereFound":["Small-cell lung cancer","Prostate","Head and neck","Paediatric solid tumours"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"sclc","pct":"60-70","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/CD276"},{"cancerId":"prostate","pct":"80-90","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/CD276","note":"Castration-resistant disease"}]},{"id":"b7h4","kind":"target","name":"B7-H4 (VTCN1)","aka":["B7-H4","B7H4","B7x","B7S1","V-set domain containing T cell activation inhibitor 1"],"tldr":"B7-H4 is a checkpoint-like protein that many breast, ovarian and endometrial tumours carry on their surface. Antibody-drug conjugates such as puxitatug samrotecan and HS-20089 use it as a docking site to deliver a chemotherapy payload.","summary":"VTCN1 (chromosome 1p13.1-p12) encodes B7-H4, a ligand that negatively regulates T-cell-mediated immunity by inhibiting T-cell activation, proliferation, cytokine production and the development of cytotoxicity; on tumour macrophages it works with regulatory T cells to suppress tumour-antigen-specific T-cell immunity, and it promotes epithelial cell transformation (UniProt Q7Z7D3). In OnCo it is the surface target of two topoisomerase I payload antibody-drug conjugates: puxitatug samrotecan, in triple-negative breast, ovarian and endometrial cancer, and HS-20089, a humanised IgG1 with a protease-cleavable linker and a drug-to-antibody ratio of about 6, in phase 3 for ovarian and endometrial cancer.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:28873","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28873"},{"label":"UniProt Q7Z7D3","url":"https://www.uniprot.org/uniprotkb/Q7Z7D3/entry"},{"label":"NCBI Gene 79679","url":"https://www.ncbi.nlm.nih.gov/gene/79679"}],"tags":["wave5-target"],"related":["top1"],"cancers":["tnbc","ovarian","endometrial"],"sections":[],"technologies":["adc"],"targets":[],"drugs":["puxitatug-samrotecan","hs-20089"],"companies":[],"institutions":[],"pathways":["pd1-checkpoint","immune-desert-exclusion"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"VTCN1","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: the record's class is immune checkpoint. HPA VTCN1: RNA tissue enhanced (breast 95 nTPM, fallopian tube 31 nTPM, pancreas 28 nTPM); high antibody staining in 2 normal tissues. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Endometrial cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas VTCN1 tissue","url":"https://www.proteinatlas.org/ENSG00000134258-VTCN1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q7Z7D3","url":"https://www.uniprot.org/uniprotkb/Q7Z7D3/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000134258 associations","url":"https://platform.opentargets.org/target/ENSG00000134258/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:28873","ensembl":"ENSG00000134258","uniprot":"Q7Z7D3","entrez":"79679","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sica G.L. et al, Immunity, 2003, \"B7-H4, a molecule of the B7 family, negatively regulates T cell immunity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12818165/","biology":"The puxitatug samrotecan record calls B7-H4 a checkpoint-like protein enriched in breast, ovarian and endometrial cancers; in the corpus it is used as an ADC address rather than as a checkpoint to block.","whereFound":["Triple-negative breast cancer","Ovarian and endometrial cancer","Tumour-associated macrophages"],"targetClass":"checkpoint","prevalence":[]},{"id":"bach2","kind":"target","name":"BACH2","aka":["BACH transcriptional regulator 2","Transcription regulator protein BACH2","BTBD25"],"tldr":"BACH2 (Transcription regulator protein BACH2) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer and Basal cell carcinoma.","summary":"Transcriptional regulator that acts as a repressor or activator. Binds to Maf recognition elements (MARE). Plays an important role in coordinating transcription activation and repression by MAFK.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.86, animal model 0.49, genetic association 0.72).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14078","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14078"},{"label":"UniProt Q9BYV9","url":"https://www.uniprot.org/uniprotkb/Q9BYV9/entry"},{"label":"NCBI Gene 60468","url":"https://www.ncbi.nlm.nih.gov/gene/60468"},{"label":"Ensembl ENSG00000112182","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112182"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["skin-cancer","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BACH2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14078","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14078","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BYV9","url":"https://www.uniprot.org/uniprotkb/Q9BYV9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BACH2","url":"https://civicdb.org/features/14160","note":"2 evidence items, 0 assertions, 2 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000112182","url":"https://platform.opentargets.org/target/ENSG00000112182/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: skin cancer 0.55, basal cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA BACH2: RNA group enriched (bone marrow 7 nTPM, lymphoid tissue 16 nTPM); high antibody staining in 3 normal tissues; highest cancer staining lymphoma (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (skin cancer, basal cell carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas BACH2 tissue","url":"https://www.proteinatlas.org/ENSG00000112182-BACH2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000112182 associations","url":"https://platform.opentargets.org/target/ENSG00000112182/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14078","ensembl":"ENSG00000112182","uniprot":"Q9BYV9","entrez":"60468","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sasaki et al, Oncogene, 2000, \"Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10949928/","biology":"Transcriptional regulator that acts as a repressor or activator. Binds to Maf recognition elements (MARE). Plays an important role in coordinating transcription activation and repression by MAFK. Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1. Positively regulates the nuclear import of actin. Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation. Location: Cytoplasm; Nucleus (UniProt). Locus 6q15 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Basal cell carcinoma: Open Targets association 0.53 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"transcription","prevalence":[]},{"id":"bag4","kind":"target","name":"BAG4","aka":["BAG cochaperone 4","BAG family molecular chaperone regulator 4"],"tldr":"BAG4 (BAG family molecular chaperone regulator 4) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release. Prevents constitutive TNFRSF1A signalling. Negative regulator of PRKN translocation to damaged mitochondria.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.88, affected pathway 0.95, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:940","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:940"},{"label":"UniProt O95429","url":"https://www.uniprot.org/uniprotkb/O95429/entry"},{"label":"NCBI Gene 9530","url":"https://www.ncbi.nlm.nih.gov/gene/9530"},{"label":"Ensembl ENSG00000156735","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156735"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BAG4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:940","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:940","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95429","url":"https://www.uniprot.org/uniprotkb/O95429/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000156735","url":"https://platform.opentargets.org/target/ENSG00000156735/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:940","ensembl":"ENSG00000156735","uniprot":"O95429","entrez":"9530","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takayama et al, J. Biol. Chem, 1999, \"An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9873016/","biology":"Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release. Prevents constitutive TNFRSF1A signalling. Negative regulator of PRKN translocation to damaged mitochondria. Location: Cytoplasm (UniProt). Locus 8p11.23 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"bak1","kind":"target","name":"BAK1","aka":["BCL2 antagonist/killer 1","Bcl-2 homologous antagonist/killer","BCL2L7","CDN1"],"tldr":"BAK1 (Bcl-2 homologous antagonist/killer) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia, Non-Hodgkin lymphoma and Acute lymphoblastic leukaemia.","summary":"Plays a role in the mitochondrial apoptotic process. Upon arrival of cell death signals, promotes mitochondrial outer membrane (MOM) permeabilisation by oligomerising to form pores within the MOM. This releases apoptogenic factors into the cytosol, including cytochrome c, promoting the activation of caspase 9 which in turn processes and activates the effector caspases.\n\nOpen Targets scores its association with cancer at 0.48 (direct and indirect evidence; datatypes literature 0.97, animal model 0.43, genetic association 0.59).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:949","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:949"},{"label":"UniProt Q16611","url":"https://www.uniprot.org/uniprotkb/Q16611/entry"},{"label":"NCBI Gene 578","url":"https://www.ncbi.nlm.nih.gov/gene/578"},{"label":"Ensembl ENSG00000030110","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000030110"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BAK1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:949","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:949","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16611","url":"https://www.uniprot.org/uniprotkb/Q16611/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000030110","url":"https://platform.opentargets.org/target/ENSG00000030110/associations","note":"association with cancer (MONDO_0004992) 0.48; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.51, non-Hodgkin lymphoma 0.51, leukaemia 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:949","ensembl":"ENSG00000030110","uniprot":"Q16611","entrez":"578","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Farrow S.N. et al, Nature, 1995, \"Cloning of a bcl-2 homologue by interaction with adenovirus E1B 19K\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7715729/","biology":"Plays a role in the mitochondrial apoptotic process. Upon arrival of cell death signals, promotes mitochondrial outer membrane (MOM) permeabilisation by oligomerising to form pores within the MOM. This releases apoptogenic factors into the cytosol, including cytochrome c, promoting the activation of caspase 9 which in turn processes and activates the effector caspases. Location: Mitochondrion outer membrane (UniProt). Locus 6p21.31 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Acute lymphoblastic leukaemia: Open Targets association 0.51 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"other","prevalence":[]},{"id":"bap1","kind":"target","name":"BAP1","aka":["BRCA1 associated deubiquitinase 1","Ubiquitin carboxyl-terminal hydrolase BAP1","hucep-6","KIAA0272","UCHL2"],"tldr":"BAP1 (Ubiquitin carboxyl-terminal hydrolase BAP1) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Mesothelioma, Biliary tract cancer and 5 more.","summary":"Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B.\n\nCIViC holds 19 clinical evidence items and 0 assertions across 10 variants, naming Olaparib, Vorinostat, Valproic Acid and Everolimus and others. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.89, affected pathway 0.91, literature 0.99, genetic association 0.76, somatic mutation 0.94, animal model 0.38). IntOGen calls it a driver in 23 cohorts (3 activating, 20 loss-of-function), covering Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cervical Squamous Cell Carcinoma, Cholangiocarcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:950"},{"label":"UniProt Q92560","url":"https://www.uniprot.org/uniprotkb/Q92560/entry"},{"label":"NCBI Gene 8314","url":"https://www.ncbi.nlm.nih.gov/gene/8314"},{"label":"Ensembl ENSG00000163930","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163930"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["rcc","mesothelioma","biliary-tract-cancer","hcc","gastric","breast-cancer","cervical","esophageal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 14 therapies; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 20 cohorts; CIViC holds 19 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Malignant Mesothelioma; Renal Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BAP1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:950","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92560","url":"https://www.uniprot.org/uniprotkb/Q92560/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BAP1","url":"https://civicdb.org/features/70","note":"19 evidence items, 0 assertions, 10 variants; diseases: Malignant Mesothelioma, Clear Cell Renal Cell Carcinoma, Uveal Melanoma, Malignant Pleural Mesothelioma, Meningioma and 2 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000163930","url":"https://platform.opentargets.org/target/ENSG00000163930/associations","note":"association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: gastric cancer 0.54, hepatocellular carcinoma 0.53, cholangiocarcinoma 0.50, renal cell carcinoma 0.68, melanoma 0.82, malignant mesothelioma 0.68 (GraphQL API, CC0)"},{"label":"IntOGen BAP1","url":"https://www.intogen.org/search?gene=BAP1","note":"driver in 23 cohorts (Act 3, LoF 20); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BAP1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining prostate cancer (5 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Mesothelioma, Biliary tract cancer (all types), Hepatocellular carcinoma, Gastric & gastro-oesophageal junction cancer, Breast cancer (all types), Cervical cancer and more); Open Targets associates it with 7 specific cancer types at or above 0.5 (BAP1-related tumor predisposition syndrome, uveal melanoma, pleural mesothelioma, clear cell renal carcinoma, hereditary neoplastic syndrome, melanoma, uveal, susceptibility to, 2 and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q92560","url":"https://www.uniprot.org/uniprotkb/Q92560/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BAP1","url":"https://civicdb.org/features/70","note":"19 evidence items, 0 assertions, 10 variants; diseases: Malignant Mesothelioma, Clear Cell Renal Cell Carcinoma, Uveal Melanoma, Malignant Pleural Mesothelioma, Meningioma and 2 more (GraphQL API, CC0)"},{"label":"IntOGen BAP1","url":"https://www.intogen.org/search?gene=BAP1","note":"driver in 23 cohorts (Act 3, LoF 20); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BAP1 tissue","url":"https://www.proteinatlas.org/ENSG00000163930-BAP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163930 associations","url":"https://platform.opentargets.org/target/ENSG00000163930/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:950","ensembl":"ENSG00000163930","uniprot":"Q92560","entrez":"8314","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yoshimoto et al, 1996, \"Biological functions of a novel human gene, hucep-6, which is specifically expressed in the central nervous system\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q92560/entry","biology":"Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the polycomb repressive deubiquitinase (PR-DUB) complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-120' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signalling, cell proliferation and cell viability. Antagonises PRC1 mediated H2AK119ub1 monoubiquitination. As part of the PR-DUB complex, associates with chromatin enriched in histone marks H3K4me1, H3K4me3, and H3K27Ac, but not in H3K27me3. Location: Cytoplasm; Nucleus; Chromosome (UniProt). Locus 3p21.1 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.68 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease","Mesothelioma: Open Targets association 0.68 with malignant mesothelioma (MONDO_0006292); CIViC evidence names this disease","Biliary tract cancer: Open Targets association 0.64 with biliary tract cancer (MONDO_0003060)","Hepatocellular carcinoma: Open Targets association 0.53 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 3 cohorts (HCC)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.54 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"enzyme","prevalence":[]},{"id":"bard1","kind":"target","name":"BARD1","aka":["BRCA1 associated RING domain 1","BRCA1-associated RING domain protein 1"],"tldr":"BARD1 (BRCA1-associated RING domain protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Gastric & gastro-oesophageal junction cancer and 5 more.","summary":"E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants, naming Olaparib, Gemcitabine and Carboplatin. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes genetic literature 0.81, affected pathway 0.91, literature 0.99, genetic association 0.82, somatic mutation 0.81, animal model 0.27). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:952","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:952"},{"label":"UniProt Q99728","url":"https://www.uniprot.org/uniprotkb/Q99728/entry"},{"label":"NCBI Gene 580","url":"https://www.ncbi.nlm.nih.gov/gene/580"},{"label":"Ensembl ENSG00000138376","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138376"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","ovarian","gastric","colorectal","prostate","lung-cancer","skin-cancer","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BARD1","role":["drug-target","oncogene-driver","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:952","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:952","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99728","url":"https://www.uniprot.org/uniprotkb/Q99728/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BARD1","url":"https://civicdb.org/features/549","note":"3 evidence items, 0 assertions, 3 variants; diseases: Colorectal Cancer, Lung Adenocarcinoma, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000138376","url":"https://platform.opentargets.org/target/ENSG00000138376/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: gastric cancer 0.63, ovarian cancer 0.71, neuroblastoma 0.58, skin cancer 0.51, breast cancer 0.80, lung cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen BARD1","url":"https://www.intogen.org/search?gene=BARD1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BARD1: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining lymphoma (4 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Gastric & gastro-oesophageal junction cancer, Colorectal cancer, Prostate cancer, Lung cancer (all types), Skin cancer (all types)); Open Targets associates it with 9 specific cancer types at or above 0.5 (hereditary breast carcinoma, breast cancer, BARD1-related cancer predisposition, neuroblastoma, susceptibility to breast cancer, hereditary neoplastic syndrome and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q99728","url":"https://www.uniprot.org/uniprotkb/Q99728/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BARD1","url":"https://civicdb.org/features/549","note":"3 evidence items, 0 assertions, 3 variants; diseases: Colorectal Cancer, Lung Adenocarcinoma, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen BARD1","url":"https://www.intogen.org/search?gene=BARD1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BARD1 tissue","url":"https://www.proteinatlas.org/ENSG00000138376-BARD1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138376 associations","url":"https://platform.opentargets.org/target/ENSG00000138376/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:952","ensembl":"ENSG00000138376","uniprot":"Q99728","entrez":"580","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wu L.C. et al, Nat. Genet, 1996, \"Identification of a RING protein that can interact in vivo with the BRCA1 gene product\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8944023/","biology":"E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumour suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage. Location: Nucleus (UniProt). Locus 2q35 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.80 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.71 with ovarian cancer (MONDO_0008170)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.63 with gastric cancer (MONDO_0001056)","Colorectal cancer: CIViC evidence names this disease","Prostate cancer: CIViC evidence names this disease; IntOGen driver in 1 cohort (PRAD)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)"],"targetClass":"oncogene","prevalence":[]},{"id":"bax","kind":"target","name":"BAX","aka":["BCL2L4","BCL2 associated X, apoptosis regulator"],"tldr":"BAX is the protein that opens the mitochondria to start cell death. BCL-2 keeps it in check in leukaemia cells; venetoclax and sonrotoclax free it, so the mitochondria leak cytochrome c and the cell dies.","summary":"BAX (chromosome 19q13.33) acts in the mitochondrial apoptotic process: under normal conditions it is kept largely cytosolic by constant retrotranslocation from the mitochondria mediated by BCL-XL, which prevents toxic BAX accumulating at the outer membrane; under stress it changes conformation, translocates to the mitochondrial membrane, releases cytochrome c and promotes caspase-3 activation and apoptosis (UniProt Q07812). The intrinsic apoptosis pathway record describes BAX and BAK as the proteins that pull the self-destruct switch open while BCL-2 holds it shut. In OnCo, BAX and BIM are the pro-apoptotic proteins released when venetoclax or sonrotoclax occupy the BH3 groove of BCL-2, which permeabilises the mitochondrial outer membrane and kills CLL and AML cells.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:959","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:959"},{"label":"UniProt Q07812","url":"https://www.uniprot.org/uniprotkb/Q07812/entry"},{"label":"NCBI Gene 581","url":"https://www.ncbi.nlm.nih.gov/gene/581"}],"tags":["wave5-target"],"related":["venetoclax","sonrotoclax","bcl2","bim"],"cancers":["cll","aml","dlbcl"],"sections":[],"technologies":["bcl2-inhibitors"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["apoptosis-bcl2"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"BAX","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:959","ensembl":"ENSG00000087088","uniprot":"Q07812","entrez":"581","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Oltvai Z.N. et al, Cell, 1993, \"Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8358790/","biology":"BAX activity is restored in the clinic by removing its BCL-2 family restraints rather than by a direct activator; the corpus records no drug that binds BAX.","whereFound":["Chronic lymphocytic leukaemia and AML (venetoclax)","Mantle-cell lymphoma and DLBCL (sonrotoclax)"],"targetClass":"other","prevalence":[]},{"id":"baz1a","kind":"target","name":"BAZ1A","aka":["bromodomain adjacent to zinc finger domain 1A","Bromodomain adjacent to zinc finger domain protein 1A","hACF1","ACF1","WALp1","WCRF180"],"tldr":"BAZ1A (Bromodomain adjacent to zinc finger domain protein 1A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Small-cell lung cancer.","summary":"Regulatory subunit of the ATP-dependent ACF-1 and ACF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and slide edge- and centre-positioned histone octamers away from their original location on the DNA template to facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair. Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the centre of a DNA template in an ATP-dependent manner. The ACF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the ACF-5 ISWI chromatin remodeling complex.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.59, genetic association 0.51, somatic mutation 0.49). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:960","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:960"},{"label":"UniProt Q9NRL2","url":"https://www.uniprot.org/uniprotkb/Q9NRL2/entry"},{"label":"NCBI Gene 11177","url":"https://www.ncbi.nlm.nih.gov/gene/11177"},{"label":"Ensembl ENSG00000198604","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198604"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BAZ1A","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:960","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:960","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NRL2","url":"https://www.uniprot.org/uniprotkb/Q9NRL2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198604","url":"https://platform.opentargets.org/target/ENSG00000198604/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"},{"label":"IntOGen BAZ1A","url":"https://www.intogen.org/search?gene=BAZ1A","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:960","ensembl":"ENSG00000198604","uniprot":"Q9NRL2","entrez":"11177","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ye et al, 1999, \"Human partial CDS from CD34+ stem cells\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9NRL2/entry","biology":"Regulatory subunit of the ATP-dependent ACF-1 and ACF-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and slide edge- and centre-positioned histone octamers away from their original location on the DNA template to facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair. Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the centre of a DNA template in an ATP-dependent manner. The ACF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the ACF-5 ISWI chromatin remodeling complex. Has a role in sensing the length of DNA which flank nucleosomes, which modulates the nucleosome spacing activity of the ACF-5 ISWI chromatin remodeling complex. Involved in DNA replication and together with SMARCA5/SNF2H is required for replication of pericentric heterochromatin in S-phase. May have a role in nuclear receptor-mediated transcription repression. Location: Nucleus (UniProt). Locus 14q13.1-q13.2 (HGNC).","whereFound":["Small-cell lung cancer: IntOGen driver in 1 cohort (SCLC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"bcl2","kind":"target","name":"BCL-2","aka":[],"tldr":"A protein that stops cells from self-destructing. Venetoclax removes that protection and has transformed leukaemia treatment.","summary":"BCL-2 is an anti-apoptotic BH3-domain protein that stops cells from self-destructing; it is overexpressed in more than 90 percent of CLL and, through the t(14;18) translocation, in about 90 percent of follicular lymphomas and 30 to 40 percent of DLBCL. Venetoclax is a BH3 mimetic that occupies the BCL-2 groove and releases the cell-death machinery. It is standard in CLL as fixed-duration therapy with obinutuzumab or ibrutinib and in AML with azacitidine in older patients, where the drug exploits a dependency rather than a measurable expression threshold. Tumour lysis syndrome, managed by ramp-up dosing, and acquired BCL2 mutations are the practical and biological limitations. Next-generation BCL-2 inhibitors (sonrotoclax, lisaftoclax) and MCL-1 inhibitors follow to address resistance. The plain version: venetoclax removes a survival shield and has transformed leukaemia treatment.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Bcl-2","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Bcl-2"},{"label":"Tsujimoto et al., Science 1985: the t(14;18) translocation results from a mistake in VDJ joining","url":"https://doi.org/10.1126/science.3929382"},{"label":"Horn et al., Blood 2013: MYC, BCL2 and BCL6 rearrangement and expression in 442 RICOVER patients","url":"https://doi.org/10.1182/blood-2012-06-435842"},{"label":"Dalla-Favera et al., PNAS 1982: human c-myc lies in the chromosome 8 region translocated in Burkitt lymphoma","url":"https://doi.org/10.1073/pnas.79.24.7824"},{"label":"Johnson et al., J Clin Oncol 2012: concurrent MYC and BCL2 protein expression in diffuse large B-cell lymphoma treated with R-CHOP","url":"https://doi.org/10.1200/JCO.2011.41.0985"},{"label":"Alaggio et al., Leukemia 2022: the fifth edition of the WHO classification of haematolymphoid tumours, lymphoid neoplasms","url":"https://doi.org/10.1038/s41375-022-01620-2"}],"tags":["apoptosis"],"related":[],"cancers":["cll","aml","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":["bcl2-inhibitors"],"targets":[],"drugs":["sonrotoclax","venetoclax"],"companies":[],"institutions":[],"pathways":["apoptosis-bcl2","basal-cell-carcinoma-signalling","micrornas-in-cancer","sclc-signalling","myc","transcription-addiction"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma, BCL2 and t(14;18): The t(14;18) translocation puts BCL2 under the control of the immunoglobulin heavy-chain enhancer, so the cell makes an anti-apoptotic protein at a level a germinal-centre B cell is never meant to have. The sequencing of the breakpoints showed that the translocation is a mistake made by the VDJ recombinase at the pre-B-cell stage: the chromosome 18 segment recombines with the JH segment on chromosome 14, with extraneous N-region nucleotides at the junction and signal-like sequences near the chromosome 18 breakpoint (Tsujimoto 1985). The lesion is therefore not a late event in a lymphoma but the first event, made in the bone marrow years before. Frequency: BCL2 rearrangement in 13.5% of 442 unselected diffuse large B-cell lymphomas in the RICOVER trial (Horn 2013), and in the large majority of follicular lymphomas. A t(14;18)-bearing B cell can be found in the blood of healthy people, so the translocation alone is not a disease. What it changes about treatment: Less than it should. Venetoclax, which displaces the pro-apoptotic partners from BCL-2 directly, transformed chronic lymphocytic leukaemia and has not transformed follicular or diffuse large B-cell lymphoma, where the cells also depend on MCL1 and BCL-xL. A BCL2 rearrangement is used for diagnosis and, in combination with MYC, for risk, not for drug choice.","Lymphoma, MYC, and the double-hit and triple-hit definitions: MYC was mapped to 8q24, the region translocated to chromosome 2, 14 or 22 in Burkitt lymphoma cells, in 1982 (Dalla-Favera 1982); the partner is always an immunoglobulin locus, so the transcription factor is driven by the enhancer that should be driving antibody production. A double hit is a MYC rearrangement together with a BCL2 rearrangement, a triple hit adds BCL6. The two lesions are complementary rather than additive: MYC drives proliferation and would normally trigger apoptosis, and BCL2 removes that safeguard. Frequency: MYC rearrangement in 8.8% of 442 diffuse large B-cell lymphomas, BCL2 in 13.5% and BCL6 in 28.7% (Horn 2013). Protein overexpression is much commoner than rearrangement: MYC protein above the 40% threshold in 31.8% of the same cohort (Horn 2013), and in a separate 167-patient training cohort MYC protein in 29%, BCL2 protein in 44% and both together in 21%, against MYC translocation in only 11% (Johnson 2012). What it changes about treatment: The WHO fifth edition separates high-grade B-cell lymphoma with MYC and BCL2 rearrangements as its own entity (Alaggio 2022), and in practice a double hit moves most patients off R-CHOP onto a more intensive regimen, although the randomised evidence for doing so is thin. Double expression of the two proteins without rearrangement is prognostic, not a separate entity, and does not by itself change the regimen: in the trial cohort MYC protein predicted worse survival only when BCL2 protein was present too (Johnson 2012)."],"symbol":"BCL2","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Sonrotoclax, Venetoclax) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA BCL2: RNA low tissue specificity; blood lineage group enriched (B-cells 5 nTPM, T-cells 9 nTPM); high antibody staining in 18 normal tissues; highest cancer staining lymphoma (7 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 5 specific cancer types at or above 0.5 (B-cell chronic lymphocytic leukemia, diffuse large B-cell lymphoma, prostate carcinoma, acute myeloid leukemia, lymphoid leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas BCL2 tissue","url":"https://www.proteinatlas.org/ENSG00000171791-BCL2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171791 associations","url":"https://platform.opentargets.org/target/ENSG00000171791/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:990","ensembl":"ENSG00000171791","uniprot":"P10415","entrez":"596","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tsujimoto et al, Proc. Natl. Acad. Sci. U.S.A, 1986, \"Analysis of the structure, transcripts, and protein products of bcl-2, the gene involved in human follicular lymphoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3523487/","biology":"BCL-2 is an anti-apoptotic BH3-domain protein, overexpressed via t(14;18) in follicular lymphoma.","whereFound":["CLL","AML","Follicular lymphoma","Mantle cell lymphoma"],"targetClass":"other","prevalence":[{"cancerId":"cll","pct":">90","measure":"BCL-2 overexpression","source":"https://en.wikipedia.org/wiki/Bcl-2"},{"cancerId":"dlbcl","pct":"30-40","measure":"BCL2 translocation/overexpression","source":"https://en.wikipedia.org/wiki/Bcl-2","note":"~90% in follicular lymphoma t(14;18)"},{"cancerId":"aml","pct":"n/a","measure":"Dependency, not a prevalence threshold","source":"https://en.wikipedia.org/wiki/Bcl-2"}]},{"id":"bcl10","kind":"target","name":"BCL10","aka":["BCL10 immune signaling adaptor","B-cell lymphoma/leukemia 10","CARMEN","CIPER","mE10","c-E10"],"tldr":"BCL10 (B-cell lymphoma/leukaemia 10) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Lung cancer, Diffuse large B-cell lymphoma and 1 more.","summary":"Plays a key role in both adaptive and innate immune signalling by bridging CARD domain-containing proteins to immune activation. Acts by channeling adaptive and innate immune signalling downstream of CARD domain-containing proteins CARD9, CARD11 and CARD14 to activate NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines. Recruited by activated CARD domain-containing proteins: homooligomerised CARD domain-containing proteins form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerisation of BCL10, subsequent recruitment of MALT1 and formation of a CBM complex.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.80, genetic association 0.19, somatic mutation 0.88). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:989","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:989"},{"label":"UniProt O95999","url":"https://www.uniprot.org/uniprotkb/O95999/entry"},{"label":"NCBI Gene 8915","url":"https://www.ncbi.nlm.nih.gov/gene/8915"},{"label":"Ensembl ENSG00000142867","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142867"},{"label":"Liu et al., Gastroenterology 2002: t(11;18) marks gastric MALT lymphomas that will not respond to Helicobacter pylori eradication (111 patients)","url":"https://doi.org/10.1053/gast.2002.33047"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","lung-cancer","dlbcl","marginal-zone-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","inflammation-nfkb","microbiome-tumour"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, t(11;18) API2-MALT1 and the NF-kB lesions of marginal zone lymphoma: Gastric MALT lymphoma begins as a Helicobacter-driven proliferation that still needs the antigen; removing the bacterium removes the stimulus and the lymphoma regresses. The t(11;18) fuses API2 to MALT1 and produces a protein that activates NF-kB on its own, so the lymphoma no longer needs the antigen and no longer cares whether the bacterium is still there. The related translocations, t(1;14) involving BCL10 and t(14;18) involving MALT1, do the same job by a different route, and inactivation of TNFAIP3 removes the brake. Frequency: Among 111 patients with Helicobacter-positive gastric MALT lymphoma treated with antibiotics, the translocation separated the responders from the non-responders: 47 of the 48 patients who regressed completely were negative for the API2-MALT1 transcript (Liu 2002). What it changes about treatment: Yes, and this is one of the few places where a translocation result changes the first decision. A t(11;18)-positive gastric MALT lymphoma should not be treated with eradication alone, whatever the stage; a negative one usually can be."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCL10","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:989","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:989","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95999","url":"https://www.uniprot.org/uniprotkb/O95999/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCL10","url":"https://civicdb.org/features/7074","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000142867","url":"https://platform.opentargets.org/target/ENSG00000142867/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.54, non-Hodgkin lymphoma 0.71, lung cancer 0.50, marginal zone lymphoma 0.58 (GraphQL API, CC0)"},{"label":"IntOGen BCL10","url":"https://www.intogen.org/search?gene=BCL10","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BCL10: RNA low tissue specificity; no normal tissue stained high; highest cancer staining lymphoma (6 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Lung cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (MALT lymphoma, testicular germ cell tumor). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O95999","url":"https://www.uniprot.org/uniprotkb/O95999/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCL10","url":"https://civicdb.org/features/7074","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen BCL10","url":"https://www.intogen.org/search?gene=BCL10","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BCL10 tissue","url":"https://www.proteinatlas.org/ENSG00000142867-BCL10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000142867 associations","url":"https://platform.opentargets.org/target/ENSG00000142867/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:989","ensembl":"ENSG00000142867","uniprot":"O95999","entrez":"8915","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Willis T.G. et al, Cell, 1999, \"Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9989495/","biology":"Plays a key role in both adaptive and innate immune signalling by bridging CARD domain-containing proteins to immune activation. Acts by channeling adaptive and innate immune signalling downstream of CARD domain-containing proteins CARD9, CARD11 and CARD14 to activate NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines. Recruited by activated CARD domain-containing proteins: homooligomerised CARD domain-containing proteins form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerisation of BCL10, subsequent recruitment of MALT1 and formation of a CBM complex. This leads to activation of NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines. Activated by CARD9 downstream of C-type lectin receptors; CARD9-mediated signals are essential for antifungal immunity. Activated by CARD11 downstream of T-cell receptor (TCR) and B-cell receptor (BCR). Location: Cytoplasm, perinuclear region; Membrane raft (UniProt). Locus 1p22.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.71 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (MLYM)","Lung cancer: Open Targets association 0.50 with lung cancer (MONDO_0008903)","Diffuse large B-cell lymphoma: Open Targets association 0.54 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Marginal zone lymphoma: Open Targets association 0.58 with marginal zone lymphoma (MONDO_0017604)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"bcl11a","kind":"target","name":"BCL11A","aka":["BCL11 transcription factor A","BCL11A-XL","BCL11A-L","BCL11A-S","CTIP1","HBFQTL5","ZNF856","SMARCM1","EVI9"],"tldr":"BCL11A (BCL11 transcription factor A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Skin cancer, Breast cancer and 2 more.","summary":"Transcription factor. Associated with the BAF SWI/SNF chromatin remodeling complex. Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a distal promoter of the HBG1 haemoglobin subunit gamma-1 gene.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.83, genetic association 0.53, somatic mutation 0.98). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13221","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13221"},{"label":"UniProt Q9H165","url":"https://www.uniprot.org/uniprotkb/Q9H165/entry"},{"label":"NCBI Gene 53335","url":"https://www.ncbi.nlm.nih.gov/gene/53335"},{"label":"Ensembl ENSG00000119866","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119866"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","skin-cancer","breast-cancer","dlbcl","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCL11A","role":["oncogene-driver","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13221","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13221","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H165","url":"https://www.uniprot.org/uniprotkb/Q9H165/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCL11A","url":"https://civicdb.org/features/12133","note":"1 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000119866","url":"https://platform.opentargets.org/target/ENSG00000119866/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: melanoma 0.56, skin cancer 0.56, breast cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen BCL11A","url":"https://www.intogen.org/search?gene=BCL11A","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BCL11A: RNA tissue enhanced (brain 49 nTPM, lymphoid tissue 38 nTPM, skin 1 45 nTPM); blood lineage group enriched (B-cells 418 nTPM, dendritic cells 902 nTPM); high antibody staining in 3 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Skin cancer (all types), Breast cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (benign prostatic hyperplasia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9H165","url":"https://www.uniprot.org/uniprotkb/Q9H165/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCL11A","url":"https://civicdb.org/features/12133","note":"1 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen BCL11A","url":"https://www.intogen.org/search?gene=BCL11A","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BCL11A tissue","url":"https://www.proteinatlas.org/ENSG00000119866-BCL11A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000119866 associations","url":"https://platform.opentargets.org/target/ENSG00000119866/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13221","ensembl":"ENSG00000119866","uniprot":"Q9H165","entrez":"53335","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Saiki et al, Genomics, 2000, \"Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11161790/","biology":"Transcription factor. Associated with the BAF SWI/SNF chromatin remodeling complex. Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a distal promoter of the HBG1 haemoglobin subunit gamma-1 gene. Involved in regulation of the developmental switch from gamma- to beta-globin, probably via direct repression of HBG1; hence indirectly repressing fetal haemoglobin (HbF) level. Involved in brain development. May play a role in haematopoiesis. Location: Cytoplasm; Nucleus; Chromosome; Nucleus matrix (UniProt). Locus 2p16.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (NHL)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Diffuse large B-cell lymphoma: CIViC evidence names this disease","Melanoma: Open Targets association 0.56 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"bcl11b","kind":"target","name":"BCL11B","aka":["BCL11 transcription factor B","B-cell lymphoma/leukemia 11B","CTIP-2","CTIP2","hRIT1-alpha","SMARCM2","ZNF856B"],"tldr":"BCL11B (B-cell lymphoma/leukaemia 11B) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Vulvar cancer, Non-Hodgkin lymphoma, Skin cancer and 5 more.","summary":"Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of haematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus. Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.94, animal model 0.46, genetic association 0.55, somatic mutation 0.86). IntOGen calls it a driver in 3 cohorts (3 activating, 0 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Glioblastoma Multiforme, Vulva/Vagina.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13222","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13222"},{"label":"UniProt Q9C0K0","url":"https://www.uniprot.org/uniprotkb/Q9C0K0/entry"},{"label":"NCBI Gene 64919","url":"https://www.ncbi.nlm.nih.gov/gene/64919"},{"label":"Ensembl ENSG00000127152","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127152"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["vulvar","non-hodgkin-lymphoma","skin-cancer","leukaemia","breast-cancer","colorectal","lung-cancer","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCL11B","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:13222","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13222","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9C0K0","url":"https://www.uniprot.org/uniprotkb/Q9C0K0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000127152","url":"https://platform.opentargets.org/target/ENSG00000127152/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: colorectal cancer 0.51, melanoma 0.52, non-Hodgkin lymphoma 0.56, skin cancer 0.56, breast cancer 0.52, lung cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen BCL11B","url":"https://www.intogen.org/search?gene=BCL11B","note":"driver in 3 cohorts (Act 3, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:13222","ensembl":"ENSG00000127152","uniprot":"Q9C0K0","entrez":"64919","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Satterwhite et al, Blood, 2001, \"The BCL11 gene family: involvement of BCL11A in lymphoid malignancies\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11719382/","biology":"Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential in controlling the responsiveness of haematopoietic stem cells to chemotactic signals by modulating the expression of the receptors CCR7 and CCR9, which direct the movement of progenitor cells from the bone marrow to the thymus. Is a regulator of IL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes. Tumour-suppressor that represses transcription through direct, TFCOUP2-independent binding to a GC-rich response element. May also function in the P53-signalling pathway. Location: Nucleus (UniProt). Locus 14q32.2 (HGNC).","whereFound":["Vulvar cancer: IntOGen driver in 1 cohort (VULVA)","Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.53 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)"],"targetClass":"oncogene","prevalence":[]},{"id":"bcl3","kind":"target","name":"BCL3","aka":["BCL3 transcription coactivator","B-cell lymphoma 3 protein","D19S37","BCL4"],"tldr":"BCL3 (B-cell lymphoma 3 protein) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.97, animal model 0.53, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:998","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:998"},{"label":"UniProt P20749","url":"https://www.uniprot.org/uniprotkb/P20749/entry"},{"label":"NCBI Gene 602","url":"https://www.ncbi.nlm.nih.gov/gene/602"},{"label":"Ensembl ENSG00000069399","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000069399"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCL3","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:998","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:998","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20749","url":"https://www.uniprot.org/uniprotkb/P20749/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000069399","url":"https://platform.opentargets.org/target/ENSG00000069399/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: colorectal cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:998","ensembl":"ENSG00000069399","uniprot":"P20749","entrez":"602","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohno et al, Cell, 1990, \"The candidate proto-oncogene bcl-3 is related to genes implicated in cell lineage determination and cell cycle control\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2180580/","biology":"Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation. Location: Nucleus; Cytoplasm; Cytoplasm, perinuclear region (UniProt). Locus 19q13.32 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"bcl6","kind":"target","name":"BCL6","aka":["BCL6 transcription repressor","B-cell lymphoma 6 protein","ZBTB27","LAZ3","BCL5","BCL6A","ZNF51"],"tldr":"BCL6 (B-cell lymphoma 6 protein) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Lung cancer, Myeloproliferative neoplasms and 3 more.","summary":"Transcriptional repressor mainly required for germinal centre (GC) formation and antibody affinity maturation which has different mechanisms of action specific to the lineage and biological functions. Forms complexes with different corepressors and histone deacetylases to repress the transcriptional expression of different subsets of target genes. Represses its target genes by binding directly to the DNA sequence 5'-TTCCTAGAA-3' (BCL6-binding site) or indirectly by repressing the transcriptional activity of transcription factors.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.99, animal model 0.29, genetic association 0.00, somatic mutation 0.98). IntOGen calls it a driver in 4 cohorts (2 activating, 2 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1001","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1001"},{"label":"UniProt P41182","url":"https://www.uniprot.org/uniprotkb/P41182/entry"},{"label":"NCBI Gene 604","url":"https://www.ncbi.nlm.nih.gov/gene/604"},{"label":"Ensembl ENSG00000113916","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113916"},{"label":"Dalla-Favera et al., PNAS 1982: human c-myc lies in the chromosome 8 region translocated in Burkitt lymphoma","url":"https://doi.org/10.1073/pnas.79.24.7824"},{"label":"Horn et al., Blood 2013: MYC, BCL2 and BCL6 rearrangement and expression in 442 RICOVER patients","url":"https://doi.org/10.1182/blood-2012-06-435842"},{"label":"Johnson et al., J Clin Oncol 2012: concurrent MYC and BCL2 protein expression in diffuse large B-cell lymphoma treated with R-CHOP","url":"https://doi.org/10.1200/JCO.2011.41.0985"},{"label":"Alaggio et al., Leukemia 2022: the fifth edition of the WHO classification of haematolymphoid tumours, lymphoid neoplasms","url":"https://doi.org/10.1038/s41375-022-01620-2"},{"label":"Schmitz et al., N Engl J Med 2018: genetics and pathogenesis of diffuse large B-cell lymphoma (574 biopsies; MCD, BN2, N1, EZB)","url":"https://doi.org/10.1056/NEJMoa1801445"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","lung-cancer","myeloproliferative-neoplasms","colorectal","skin-cancer","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["myc","transcription-addiction","epigenetic-reprogramming"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 2 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, MYC, and the double-hit and triple-hit definitions: MYC was mapped to 8q24, the region translocated to chromosome 2, 14 or 22 in Burkitt lymphoma cells, in 1982 (Dalla-Favera 1982); the partner is always an immunoglobulin locus, so the transcription factor is driven by the enhancer that should be driving antibody production. A double hit is a MYC rearrangement together with a BCL2 rearrangement, a triple hit adds BCL6. The two lesions are complementary rather than additive: MYC drives proliferation and would normally trigger apoptosis, and BCL2 removes that safeguard. Frequency: MYC rearrangement in 8.8% of 442 diffuse large B-cell lymphomas, BCL2 in 13.5% and BCL6 in 28.7% (Horn 2013). Protein overexpression is much commoner than rearrangement: MYC protein above the 40% threshold in 31.8% of the same cohort (Horn 2013), and in a separate 167-patient training cohort MYC protein in 29%, BCL2 protein in 44% and both together in 21%, against MYC translocation in only 11% (Johnson 2012). What it changes about treatment: The WHO fifth edition separates high-grade B-cell lymphoma with MYC and BCL2 rearrangements as its own entity (Alaggio 2022), and in practice a double hit moves most patients off R-CHOP onto a more intensive regimen, although the randomised evidence for doing so is thin. Double expression of the two proteins without rearrangement is prognostic, not a separate entity, and does not by itself change the regimen: in the trial cohort MYC protein predicted worse survival only when BCL2 protein was present too (Johnson 2012).","Lymphoma, BCL6 and the germinal-centre programme: BCL6 is the master transcriptional repressor of the germinal centre: it switches off the DNA-damage response and the differentiation programme so that a B cell can tolerate deliberate mutation of its own immunoglobulin genes. A lymphoma that keeps BCL6 on keeps a cell in a state where mutation is permitted and apoptosis is suppressed. The protein is normally switched off by acetylation, which is one reason CREBBP and EP300 loss matters here. Frequency: BCL6 rearrangement in 28.7% of 442 diffuse large B-cell lymphomas, the commonest of the three translocations (Horn 2013); BCL6 fusions with NOTCH2 mutations define the BN2 subtype (Schmitz 2018). What it changes about treatment: Nothing yet. There is no approved BCL6 inhibitor or degrader, and the group's prognosis in the genetic classification is comparatively favourable, which is a reason to study de-escalation rather than a reason to change treatment now."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCL6","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1001","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1001","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P41182","url":"https://www.uniprot.org/uniprotkb/P41182/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCL6","url":"https://civicdb.org/features/566","note":"2 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000113916","url":"https://platform.opentargets.org/target/ENSG00000113916/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: colorectal cancer 0.52, diffuse large B-cell lymphoma 0.60, non-Hodgkin lymphoma 0.66, skin cancer 0.52, myeloproliferative neoplasm 0.53, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen BCL6","url":"https://www.intogen.org/search?gene=BCL6","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BCL6: RNA tissue enhanced (skeletal muscle 528 nTPM); blood lineage group enriched (granulocytes 270 nTPM, monocytes 77 nTPM); high antibody staining in 4 normal tissues; highest cancer staining lymphoma (2 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Lung cancer (all types), Myeloid neoplasms, Colorectal cancer, Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P41182","url":"https://www.uniprot.org/uniprotkb/P41182/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCL6","url":"https://civicdb.org/features/566","note":"2 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen BCL6","url":"https://www.intogen.org/search?gene=BCL6","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BCL6 tissue","url":"https://www.proteinatlas.org/ENSG00000113916-BCL6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113916 associations","url":"https://platform.opentargets.org/target/ENSG00000113916/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1001","ensembl":"ENSG00000113916","uniprot":"P41182","entrez":"604","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kerckaert J.-P. et al, Nat. Genet, 1993, \"LAZ3, a novel zinc-finger encoding gene, is disrupted by recurring chromosome 3q27 translocations in human lymphomas\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8220427/","biology":"Transcriptional repressor mainly required for germinal centre (GC) formation and antibody affinity maturation which has different mechanisms of action specific to the lineage and biological functions. Forms complexes with different corepressors and histone deacetylases to repress the transcriptional expression of different subsets of target genes. Represses its target genes by binding directly to the DNA sequence 5'-TTCCTAGAA-3' (BCL6-binding site) or indirectly by repressing the transcriptional activity of transcription factors. In GC B-cells, represses genes that function in differentiation, inflammation, apoptosis and cell cycle control, also autoregulates its transcriptional expression and up-regulates, indirectly, the expression of some genes important for GC reactions, such as AICDA, through the repression of microRNAs expression, like miR155. An important function is to allow GC B-cells to proliferate very rapidly in response to T-cell dependent antigens and tolerate the physiological DNA breaks required for immunoglobulin class switch recombination and somatic hypermutation without inducing a p53/TP53-dependent apoptotic response. In follicular helper CD4(+) T-cells (T(FH) cells), promotes the expression of T(FH)-related genes but inhibits the differentiation of T(H)1, T(H)2 and T(H)17 cells. Location: Nucleus (UniProt). Locus 3q27.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.66 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Myeloproliferative neoplasms: Open Targets association 0.53 with myeloproliferative neoplasm (MONDO_0020076)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: Open Targets association 0.60 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"bcl7a","kind":"target","name":"BCL7A","aka":["BAF chromatin remodeling complex subunit BCL7A","B-cell CLL/lymphoma 7 protein family member A","SMARCJ1","BCL7"],"tldr":"BCL7A (B-cell CLL/lymphoma 7 protein family member A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Multiple myeloma, Diffuse large B-cell lymphoma and 1 more.","summary":"UniProt has no function text for Q4VC05; HGNC names it \"BAF chromatin remodeling complex subunit BCL7A\".\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. IntOGen calls it a driver in 4 cohorts (4 activating, 0 loss-of-function), covering Burkitt Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1004","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1004"},{"label":"UniProt Q4VC05","url":"https://www.uniprot.org/uniprotkb/Q4VC05/entry"},{"label":"NCBI Gene 605","url":"https://www.ncbi.nlm.nih.gov/gene/605"},{"label":"Ensembl ENSG00000110987","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110987"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma","dlbcl","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; CIViC holds 2 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCL7A","role":["oncogene-driver","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1004","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1004","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q4VC05","url":"https://www.uniprot.org/uniprotkb/Q4VC05/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCL7A","url":"https://civicdb.org/features/567","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen BCL7A","url":"https://www.intogen.org/search?gene=BCL7A","note":"driver in 4 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BCL7A: RNA low tissue specificity; blood lineage group enriched (B-cells 2 nTPM, dendritic cells 3 nTPM); high antibody staining in 2 normal tissues; highest cancer staining glioma (4 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q4VC05","url":"https://www.uniprot.org/uniprotkb/Q4VC05/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCL7A","url":"https://civicdb.org/features/567","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen BCL7A","url":"https://www.intogen.org/search?gene=BCL7A","note":"driver in 4 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BCL7A tissue","url":"https://www.proteinatlas.org/ENSG00000110987-BCL7A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000110987 associations","url":"https://platform.opentargets.org/target/ENSG00000110987/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1004","ensembl":"ENSG00000110987","uniprot":"Q4VC05","entrez":"605","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zani V.J. et al, Blood, 1996, \"Molecular cloning of complex chromosomal translocation t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8605326/","biology":"UniProt has no function text for Q4VC05; HGNC names it \"BAF chromatin remodeling complex subunit BCL7A\". Locus 12q24.31 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (MLYM)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (DLBCLNOS)","Burkitt lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (BL)"],"targetClass":"oncogene","prevalence":[]},{"id":"bcl9","kind":"target","name":"BCL9","aka":["BCL9 transcription coactivator","B-cell CLL/lymphoma 9 protein"],"tldr":"BCL9 (B-cell CLL/lymphoma 9 protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Skin cancer and 2 more.","summary":"Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.85). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Colon Adenocarcinoma, Colorectal Adenocarcinoma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1008","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1008"},{"label":"UniProt O00512","url":"https://www.uniprot.org/uniprotkb/O00512/entry"},{"label":"NCBI Gene 607","url":"https://www.ncbi.nlm.nih.gov/gene/607"},{"label":"Ensembl ENSG00000116128","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116128"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","gastric","skin-cancer","breast-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCL9","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1008","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1008","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00512","url":"https://www.uniprot.org/uniprotkb/O00512/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000116128","url":"https://platform.opentargets.org/target/ENSG00000116128/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: colorectal cancer 0.57, gastric cancer 0.52, melanoma 0.51, skin cancer 0.54, breast cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen BCL9","url":"https://www.intogen.org/search?gene=BCL9","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1008","ensembl":"ENSG00000116128","uniprot":"O00512","entrez":"607","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Willis T.G. et al, Blood, 1998, \"Molecular cloning of translocation t(1;14)(q21;q32) defines a novel gene (BCL9) at chromosome 1q21\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9490669/","biology":"Involved in signal transduction through the Wnt pathway. Promotes beta-catenin's transcriptional activity. Location: Nucleus (UniProt). Locus 1q21.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.57 with colorectal cancer (MONDO_0005575); IntOGen driver in 3 cohorts (COAD, COADREAD)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"bcl9l","kind":"target","name":"BCL9L","aka":["BCL9 like","B-cell CLL/lymphoma 9-like protein","DLNB11","B9L","Bcl9-2"],"tldr":"BCL9L (B-cell CLL/lymphoma 9-like protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Skin cancer, Gastric & gastro-oesophageal junction cancer and 1 more.","summary":"Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.94). IntOGen calls it a driver in 4 cohorts (0 activating, 4 loss-of-function), covering Colon Adenocarcinoma, Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23688","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23688"},{"label":"UniProt Q86UU0","url":"https://www.uniprot.org/uniprotkb/Q86UU0/entry"},{"label":"NCBI Gene 283149","url":"https://www.ncbi.nlm.nih.gov/gene/283149"},{"label":"Ensembl ENSG00000186174","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186174"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","skin-cancer","gastric","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCL9L","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:23688","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23688","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86UU0","url":"https://www.uniprot.org/uniprotkb/Q86UU0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000186174","url":"https://platform.opentargets.org/target/ENSG00000186174/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: colorectal cancer 0.66, gastric cancer 0.52, melanoma 0.56, skin cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen BCL9L","url":"https://www.intogen.org/search?gene=BCL9L","note":"driver in 4 cohorts (Act 0, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:23688","ensembl":"ENSG00000186174","uniprot":"Q86UU0","entrez":"283149","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kubo et al, 2002, \"Identification of a 500-kb region of common allelic loss in chromosome 11q23 in non-MYCN amplified type of neuroblastoma\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q86UU0/entry","biology":"Transcriptional regulator that acts as an activator. Promotes beta-catenin transcriptional activity. Plays a role in tumorigenesis. Enhances the neoplastic transforming activity of CTNNB1. Location: Nucleus (UniProt). Locus 11q23.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.66 with colorectal cancer (MONDO_0005575); IntOGen driver in 4 cohorts (COAD, COADREAD)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)","Melanoma: Open Targets association 0.56 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"bclaf1","kind":"target","name":"BCLAF1","aka":["BCL2 associated transcription factor 1","Bcl-2-associated transcription factor 1","KIAA0164"],"tldr":"BCLAF1 (Bcl-2-associated transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Gastric & gastro-oesophageal junction cancer, Acute myeloid leukaemia and 2 more.","summary":"Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA.\n\nIntOGen calls it a driver in 5 cohorts (4 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Melanoma, Prostate Adenocarcinoma, Stomach Adenocarcinoma, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16863","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16863"},{"label":"UniProt Q9NYF8","url":"https://www.uniprot.org/uniprotkb/Q9NYF8/entry"},{"label":"NCBI Gene 9774","url":"https://www.ncbi.nlm.nih.gov/gene/9774"},{"label":"Ensembl ENSG00000029363","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000029363"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate","gastric","aml","melanoma","uterine-carcinosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCLAF1","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:16863","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16863","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NYF8","url":"https://www.uniprot.org/uniprotkb/Q9NYF8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen BCLAF1","url":"https://www.intogen.org/search?gene=BCLAF1","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:16863","ensembl":"ENSG00000029363","uniprot":"Q9NYF8","entrez":"9774","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1996, \"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8724849/","biology":"Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Location: Cytoplasm; Nucleus; Nucleus speckle; Nucleus, nucleoplasm (UniProt). Locus 6q23.3 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)","Melanoma: IntOGen driver in 1 cohort (MEL)","Uterine carcinosarcoma: IntOGen driver in 1 cohort (UCS)"],"targetClass":"transcription","prevalence":[]},{"id":"bcma","kind":"target","name":"BCMA","aka":[],"tldr":"BCMA is a survival receptor on plasma cells, and the target that made CAR-T and bispecifics work in multiple myeloma.","summary":"B-cell maturation antigen (TNFRSF17) is a TNF receptor family member with APRIL and BAFF as ligands that sustains plasma cell survival, and it is present on over 95% of myeloma cells with little expression elsewhere. It is targeted by CAR-T (ciltacabtagene, idecabtagene), bispecifics (teclistamab, elranatamab, linvoseltamab), and the ADC belantamab mafodotin, re-approved in 2025 on the strength of DREAMM-7/8. Soluble BCMA shed into the blood can act as a decoy, and antigen loss or downregulation is one mechanism of relapse. The open questions are how to sequence these modalities and how to manage infections in patients with prolonged plasma cell depletion. The simple version is the plasma cell survival receptor that made CAR-T and bispecifics work in multiple myeloma.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/B-cell_maturation_antigen","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/B-cell_maturation_antigen"}],"tags":["car-t-target","t-cell-engager-target"],"related":["bcma-expression"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":["gc012f","azd4045","nxc-201-car-t"],"companies":["arcellx","cullinan-therapeutics","kelonia-therapeutics","poseida-therapeutics"],"institutions":[],"pathways":[],"terms":[],"trials":["nct05594797"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TNFRSF17","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal B-cells and dendritic cells: HPA blood lineage group enriched at or above 25 nTPM, and 14 cell-killing or cell-finding medicines (GC012F, AZD4045, NXC-201 CAR-T and more) aim at it, so normal cells of the lineage are hit too. HPA TNFRSF17: RNA tissue enhanced (intestine 27 nTPM, lymphoid tissue 45 nTPM, stomach 1 23 nTPM); blood lineage group enriched (B-cells 125 nTPM, dendritic cells 104 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Multiple myeloma); Open Targets associates it with 1 specific cancer type at or above 0.5 (plasma cell myeloma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TNFRSF17 tissue","url":"https://www.proteinatlas.org/ENSG00000048462-TNFRSF17/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas TNFRSF17 pathology","url":"https://www.proteinatlas.org/ENSG00000048462-TNFRSF17/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000048462 associations","url":"https://platform.opentargets.org/target/ENSG00000048462/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11913","ensembl":"ENSG00000048462","uniprot":"Q02223","entrez":"608","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Laabi et al, EMBO J, 1992, \"A new gene, BCM, on chromosome 16 is fused to the interleukin 2 gene by a t(4;16)(q26;p13) translocation in a malignant T cell lymphoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1396583/","biology":"BCMA is a TNF receptor family member with APRIL and BAFF as ligands. Soluble BCMA can act as a decoy.","whereFound":["Multiple myeloma"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"multiple-myeloma","pct":">95","measure":"Plasma-cell surface expression","source":"https://en.wikipedia.org/wiki/B-cell_maturation_antigen"}]},{"id":"bcor","kind":"target","name":"BCOR","aka":["BCL6 corepressor","BCL-6 corepressor","FLJ20285","KIAA1575"],"tldr":"BCOR (BCL-6 corepressor) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Endometrial cancer and 5 more.","summary":"Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor.\n\nCIViC holds 13 clinical evidence items and 4 assertions across 2 variants. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.61, genetic association 0.52, somatic mutation 0.91). IntOGen calls it a driver in 23 cohorts (5 activating, 18 loss-of-function), covering Adrenocortical Carcinoma, Acute Myeloid Leukaemia, Cholangiocarcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Colorectal Adenocarcinoma, Glioblastoma Multiforme and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20893","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20893"},{"label":"UniProt Q6W2J9","url":"https://www.uniprot.org/uniprotkb/Q6W2J9/entry"},{"label":"NCBI Gene 54880","url":"https://www.ncbi.nlm.nih.gov/gene/54880"},{"label":"Ensembl ENSG00000183337","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183337"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","endometrial","gastric","sarcoma","mds","colorectal","adrenocortical"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 18 cohorts; CIViC holds 13 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Kidney Clear Cell Sarcoma; Central Nervous System Tumour With BCOR Internal Tandem Duplication; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCOR","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:20893","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20893","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6W2J9","url":"https://www.uniprot.org/uniprotkb/Q6W2J9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCOR","url":"https://civicdb.org/features/12555","note":"13 evidence items, 4 assertions, 2 variants; diseases: Kidney Clear Cell Sarcoma, Central Nervous System Tumour With BCOR Internal Tandem Duplication, Sarcoma, Stomach Cancer, Myelodysplastic Syndrome (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000183337","url":"https://platform.opentargets.org/target/ENSG00000183337/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: colorectal cancer 0.59, gastric cancer 0.51, endometrial cancer 0.62, melanoma 0.55, acute myeloid leukaemia 0.54, acute lymphoblastic leukaemia 0.61 (GraphQL API, CC0)"},{"label":"IntOGen BCOR","url":"https://www.intogen.org/search?gene=BCOR","note":"driver in 23 cohorts (Act 5, LoF 18); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BCOR: RNA low tissue specificity; no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Endometrial cancer, Gastric & gastro-oesophageal junction cancer, Sarcomas (soft tissue, bone, GIST), Myeloid neoplasms, Colorectal cancer and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q6W2J9","url":"https://www.uniprot.org/uniprotkb/Q6W2J9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCOR","url":"https://civicdb.org/features/12555","note":"13 evidence items, 4 assertions, 2 variants; diseases: Kidney Clear Cell Sarcoma, Central Nervous System Tumour With BCOR Internal Tandem Duplication, Sarcoma, Stomach Cancer, Myelodysplastic Syndrome (GraphQL API, CC0)"},{"label":"IntOGen BCOR","url":"https://www.intogen.org/search?gene=BCOR","note":"driver in 23 cohorts (Act 5, LoF 18); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BCOR tissue","url":"https://www.proteinatlas.org/ENSG00000183337-BCOR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183337 associations","url":"https://platform.opentargets.org/target/ENSG00000183337/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20893","ensembl":"ENSG00000183337","uniprot":"Q6W2J9","entrez":"54880","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Huynh K.D. et al, Genes Dev, 2000, \"BCoR, a novel corepressor involved in BCL-6 repression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10898795/","biology":"Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2). Location: Nucleus (UniProt). Locus Xp11.4 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.69 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.63 with non-Hodgkin lymphoma (MONDO_0018908)","Endometrial cancer: Open Targets association 0.62 with endometrial cancer (MONDO_0011962); IntOGen driver in 3 cohorts (UCEC)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056); CIViC evidence names this disease","Sarcomas: CIViC evidence names this disease","Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"bcorl1","kind":"target","name":"BCORL1","aka":["BCL6 corepressor like 1","BCL-6 corepressor-like protein 1","FLJ11362","BCoR-L1","CXorf10"],"tldr":"BCORL1 (BCL-6 corepressor-like protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Pancreatic ductal adenocarcinoma, Skin cancer and 4 more.","summary":"Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.81, animal model 0.40, genetic association 0.00, somatic mutation 0.90). IntOGen calls it a driver in 6 cohorts (0 activating, 6 loss-of-function), covering Acute Myeloid Leukaemia, Colorectal Adenocarcinoma, High-Grade Glioma, NOS, Neuroblastoma, Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25657","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25657"},{"label":"UniProt Q5H9F3","url":"https://www.uniprot.org/uniprotkb/Q5H9F3/entry"},{"label":"NCBI Gene 63035","url":"https://www.ncbi.nlm.nih.gov/gene/63035"},{"label":"Ensembl ENSG00000085185","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085185"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","pancreatic","skin-cancer","breast-cancer","neuroblastoma","aml","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: High-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCORL1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:25657","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25657","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5H9F3","url":"https://www.uniprot.org/uniprotkb/Q5H9F3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000085185","url":"https://platform.opentargets.org/target/ENSG00000085185/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: colorectal cancer 0.60, melanoma 0.52, skin cancer 0.55, breast cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen BCORL1","url":"https://www.intogen.org/search?gene=BCORL1","note":"driver in 6 cohorts (Act 0, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:25657","ensembl":"ENSG00000085185","uniprot":"Q5H9F3","entrez":"63035","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rhodes, 1999.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q5H9F3/entry","biology":"Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Location: Nucleus (UniProt). Locus Xq26.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.60 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Neuroblastoma: IntOGen driver in 2 cohorts (NBL)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"bcr-abl","kind":"target","name":"BCR::ABL1 (Philadelphia chromosome)","aka":[],"tldr":"The fusion that defines chronic myeloid leukaemia and a quarter of adult acute lymphoblastic leukaemia; the first cancer driver ever switched off by a pill.","summary":"t(9;22) creates a constitutively active ABL1 kinase. Imatinib (2001) transformed CML; dasatinib, nilotinib, bosutinib, ponatinib (covers T315I), and the allosteric STAMP inhibitor asciminib followed. In Ph+ ALL (~25% of adult B-ALL, rising with age), TKI plus chemotherapy or, increasingly, TKI plus blinatumomab without chemotherapy (D-ALBA) achieves deep molecular remissions and is reducing the need for transplant.","asOf":"2026-09-07","wikipedia":"https://en.wikipedia.org/wiki/Philadelphia_chromosome","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Philadelphia_chromosome"}],"tags":["driver","fusion","kinase"],"related":["bcr-abl1-transcript","bcr-abl1-t315i"],"cancers":["all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":["imatinib","ponatinib","dasatinib","asciminib","omacetaxine"],"companies":[],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","bcr-abl1-signalling","cml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"BCR-ABL1","role":[],"sources":[],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: 2 of 2 label readouts filed under it measure a sequence variant (BCR::ABL1 T315I, BCR::ABL1 transcript (Philadelphia chromosome, quantitative PCR)) absent from normal cells. HPA BCR: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining colorectal cancer (6 of 12 high). HPA ABL1: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining carcinoid (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); approvals of single-target medicines aimed at it also list Sarcomas (soft tissue, bone, GIST), Skin cancer (all types), not counted; Open Targets associates it with 9 specific cancer types at or above 0.5 (chronic myeloid leukemia, acute lymphoblastic leukemia, gastrointestinal stromal tumor, dermatofibrosarcoma protuberans, myelodysplastic/myeloproliferative disease, myelodysplastic syndrome and more); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"BCR::ABL1 T315I label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=16d804b6-4957-43ee-b18c-3b36ec37c5ac","note":"T315I-positive"},{"label":"BCR::ABL1 transcript (Philadelphia chromosome, quantitative PCR) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=211ef2da-2868-4a77-8055-1cb2cd78e24b","note":"Ph+ CML (BCR::ABL1 present)"},{"label":"Human Protein Atlas BCR tissue","url":"https://www.proteinatlas.org/ENSG00000186716-BCR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas ABL1 tissue","url":"https://www.proteinatlas.org/ENSG00000097007-ABL1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000186716 associations","url":"https://platform.opentargets.org/target/ENSG00000186716/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000097007 associations","url":"https://platform.opentargets.org/target/ENSG00000097007/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"BCR-ABL is a constitutively active tyrosine kinase that switches on RAS, PI3K, and STAT5. Kinase-domain mutations (T315I gatekeeper) drive TKI resistance.","whereFound":["CML (~100%)","Adult B-ALL (~25%; >40% over age 60)","Paediatric B-ALL (~3%)"],"targetClass":"kinase","prevalence":[{"cancerId":"all-leukemia","pct":"~25 adults; ~3 children","measure":"t(9;22)"}]},{"id":"bik","kind":"target","name":"BIK","aka":["BCL2 interacting killer","Bcl-2-interacting killer"],"tldr":"BIK (Bcl-2-interacting killer) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Accelerates programmed cell death. Association to the apoptosis repressors Bcl-X(L), BHRF1, Bcl-2 or its adenovirus homolog E1B 19k protein suppresses this death-promoting activity. Does not interact with BAX.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.89, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1051","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1051"},{"label":"UniProt Q13323","url":"https://www.uniprot.org/uniprotkb/Q13323/entry"},{"label":"NCBI Gene 638","url":"https://www.ncbi.nlm.nih.gov/gene/638"},{"label":"Ensembl ENSG00000100290","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100290"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BIK","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1051","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1051","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13323","url":"https://www.uniprot.org/uniprotkb/Q13323/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100290","url":"https://platform.opentargets.org/target/ENSG00000100290/associations","note":"association with cancer (MONDO_0004992) 0.52; per-cancer scores at or above 0.5: prostate cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1051","ensembl":"ENSG00000100290","uniprot":"Q13323","entrez":"638","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Boyd J.M. et al, Oncogene, 1995, \"Bik, a novel death-inducing protein shares a distinct sequence motif with Bcl-2 family proteins and interacts with viral and cellular survival-promoting proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7478623/","biology":"Accelerates programmed cell death. Association to the apoptosis repressors Bcl-X(L), BHRF1, Bcl-2 or its adenovirus homolog E1B 19k protein suppresses this death-promoting activity. Does not interact with BAX. Location: Endomembrane system; Mitochondrion membrane (UniProt). Locus 22q13.2 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.50 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"bim","kind":"target","name":"BIM (BCL2L11)","aka":["BIM","BH3-only protein BIM","BH3","BimEL","BimL","BimS","BCL2 like 11"],"tldr":"BIM is a pro-death protein that leukaemia cells keep clamped by BCL-2. Venetoclax and sonrotoclax are BH3 mimetics: they copy the part of BIM that binds BCL-2, so BIM is released, the mitochondria leak and the cell dies.","summary":"BCL2L11 (chromosome 2q13) encodes BIM, a BCL-2 family protein whose isoforms induce apoptosis and anoikis with differing potency: BimL is more potent than BimEL, the short Bim-alpha isoforms are weaker, and the BimAC and BimABC isoforms cannot induce apoptosis at all (UniProt O43521). The intrinsic apoptosis pathway record places BIM among the BH3-only proteins (with PUMA, NOXA and BAD) that either inhibit BCL-2, BCL-XL and MCL-1 or directly activate BAX and BAK. In OnCo the BH3 mimetics venetoclax and sonrotoclax occupy the BH3-binding groove of BCL-2 so that sequestered BIM and BAX are released, the mitochondrial outer membrane is permeabilised, cytochrome c triggers caspase activation and CLL, AML and mantle-cell lymphoma cells die within hours.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:994","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:994"},{"label":"UniProt O43521","url":"https://www.uniprot.org/uniprotkb/O43521/entry"},{"label":"NCBI Gene 10018","url":"https://www.ncbi.nlm.nih.gov/gene/10018"},{"label":"Tsujimoto et al., Science 1985: the t(14;18) translocation results from a mistake in VDJ joining","url":"https://doi.org/10.1126/science.3929382"},{"label":"Horn et al., Blood 2013: MYC, BCL2 and BCL6 rearrangement and expression in 442 RICOVER patients","url":"https://doi.org/10.1182/blood-2012-06-435842"}],"tags":["wave5-target"],"related":["venetoclax","sonrotoclax","bcl2","bax"],"cancers":["cll","aml","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":["bcl2-inhibitors"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["apoptosis-bcl2"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted.","Lymphoma, BCL2 and t(14;18): The t(14;18) translocation puts BCL2 under the control of the immunoglobulin heavy-chain enhancer, so the cell makes an anti-apoptotic protein at a level a germinal-centre B cell is never meant to have. The sequencing of the breakpoints showed that the translocation is a mistake made by the VDJ recombinase at the pre-B-cell stage: the chromosome 18 segment recombines with the JH segment on chromosome 14, with extraneous N-region nucleotides at the junction and signal-like sequences near the chromosome 18 breakpoint (Tsujimoto 1985). The lesion is therefore not a late event in a lymphoma but the first event, made in the bone marrow years before. Frequency: BCL2 rearrangement in 13.5% of 442 unselected diffuse large B-cell lymphomas in the RICOVER trial (Horn 2013), and in the large majority of follicular lymphomas. A t(14;18)-bearing B cell can be found in the blood of healthy people, so the translocation alone is not a disease. What it changes about treatment: Less than it should. Venetoclax, which displaces the pro-apoptotic partners from BCL-2 directly, transformed chronic lymphocytic leukaemia and has not transformed follicular or diffuse large B-cell lymphoma, where the cells also depend on MCL1 and BCL-xL. A BCL2 rearrangement is used for diagnosis and, in combination with MYC, for risk, not for drug choice."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"BCL2L11","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:994","ensembl":"ENSG00000153094","uniprot":"O43521","entrez":"10018","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: O'Connor et al, EMBO J, 1998, \"Bim: a novel member of the Bcl-2 family that promotes apoptosis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9430630/","biology":"BIM itself is not a drug target; the drugs mimic its BH3 domain. Sonrotoclax is recorded as more potent and shorter-acting than venetoclax and active against the venetoclax-resistant G101V BCL2 mutation in preclinical models; both need a ramp-up for tumour lysis precautions.","whereFound":["Chronic lymphocytic leukaemia and AML (venetoclax)","Mantle-cell lymphoma and DLBCL (sonrotoclax)"],"targetClass":"other","prevalence":[]},{"id":"birc3","kind":"target","name":"BIRC3","aka":["baculoviral IAP repeat containing 3","Baculoviral IAP repeat-containing protein 3","cIAP2","hiap-1","RNF49","MALT2","c-IAP2","API2"],"tldr":"BIRC3 (Baculoviral IAP repeat-containing protein 3) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Skin cancer and 4 more.","summary":"Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signalling and immunity, mitogenic kinase signalling and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signalling and regulates both canonical and non-canonical NF-kappa-B signalling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signalling. The target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, IKBKE, TRAF1, and BCL10.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.80, clinical 0.14). IntOGen calls it a driver in 2 cohorts (1 activating, 0 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:591"},{"label":"UniProt Q13489","url":"https://www.uniprot.org/uniprotkb/Q13489/entry"},{"label":"NCBI Gene 330","url":"https://www.ncbi.nlm.nih.gov/gene/330"},{"label":"Ensembl ENSG00000023445","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000023445"},{"label":"Liu et al., Gastroenterology 2002: t(11;18) marks gastric MALT lymphomas that will not respond to Helicobacter pylori eradication (111 patients)","url":"https://doi.org/10.1053/gast.2002.33047"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","skin-cancer","mantle-cell-lymphoma","cll","nsclc","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["inflammation-nfkb","microbiome-tumour"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.14; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, t(11;18) API2-MALT1 and the NF-kB lesions of marginal zone lymphoma: Gastric MALT lymphoma begins as a Helicobacter-driven proliferation that still needs the antigen; removing the bacterium removes the stimulus and the lymphoma regresses. The t(11;18) fuses API2 to MALT1 and produces a protein that activates NF-kB on its own, so the lymphoma no longer needs the antigen and no longer cares whether the bacterium is still there. The related translocations, t(1;14) involving BCL10 and t(14;18) involving MALT1, do the same job by a different route, and inactivation of TNFAIP3 removes the brake. Frequency: Among 111 patients with Helicobacter-positive gastric MALT lymphoma treated with antibiotics, the translocation separated the responders from the non-responders: 47 of the 48 patients who regressed completely were negative for the API2-MALT1 transcript (Liu 2002). What it changes about treatment: Yes, and this is one of the few places where a translocation result changes the first decision. A t(11;18)-positive gastric MALT lymphoma should not be treated with eradication alone, whatever the stage; a negative one usually can be."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BIRC3","role":["drug-target","oncogene-driver","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:591","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13489","url":"https://www.uniprot.org/uniprotkb/Q13489/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BIRC3","url":"https://civicdb.org/features/353","note":"2 evidence items, 0 assertions, 2 variants; diseases: Mantle Cell Lymphoma, Chronic Lymphocytic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000023445","url":"https://platform.opentargets.org/target/ENSG00000023445/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.56, non-Hodgkin lymphoma 0.62, skin cancer 0.55, leukaemia 0.59 (GraphQL API, CC0)"},{"label":"IntOGen BIRC3","url":"https://www.intogen.org/search?gene=BIRC3","note":"driver in 2 cohorts (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BIRC3: RNA tissue enhanced (intestine 84 nTPM, lymphoid tissue 132 nTPM); blood lineage group enriched (B-cells 210 nTPM, T-cells 84 nTPM); high antibody staining in 6 normal tissues; highest cancer staining melanoma (1 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q13489","url":"https://www.uniprot.org/uniprotkb/Q13489/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BIRC3","url":"https://civicdb.org/features/353","note":"2 evidence items, 0 assertions, 2 variants; diseases: Mantle Cell Lymphoma, Chronic Lymphocytic Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen BIRC3","url":"https://www.intogen.org/search?gene=BIRC3","note":"driver in 2 cohorts (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BIRC3 tissue","url":"https://www.proteinatlas.org/ENSG00000023445-BIRC3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000023445 associations","url":"https://platform.opentargets.org/target/ENSG00000023445/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:591","ensembl":"ENSG00000023445","uniprot":"Q13489","entrez":"330","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rothe et al, Cell, 1995, \"The TNFR2-TRAF signaling complex contains two novel proteins related to baculoviral inhibitor of apoptosis proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8548810/","biology":"Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signalling and immunity, mitogenic kinase signalling and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signalling and regulates both canonical and non-canonical NF-kappa-B signalling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signalling. The target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, IKBKE, TRAF1, and BCL10. Acts as an important regulator of innate immune signalling via regulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs) and RIG-I like receptors (RLRs), collectively referred to as pattern recognition receptors (PRRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Location: Cytoplasm; Nucleus (UniProt). Locus 11q22.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.62 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.59 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Mantle cell lymphoma: CIViC evidence names this disease","Chronic lymphocytic leukaemia: CIViC evidence names this disease; IntOGen driver in 1 cohort (CLLSLL)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"oncogene","prevalence":[]},{"id":"birc5","kind":"target","name":"BIRC5","aka":["baculoviral IAP repeat containing 5","Baculoviral IAP repeat-containing protein 5","EPR-1","survivin","API4"],"tldr":"BIRC5 (Baculoviral IAP repeat-containing protein 5) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer and HER2-positive breast cancer.","summary":"Multitasking protein that has dual roles in promoting cell proliferation and preventing apoptosis. Component of a chromosome passage protein complex (CPC) which is essential for chromosome alignment and segregation during mitosis and cytokinesis. Acts as an important regulator of the localisation of this complex; directs CPC movement to different locations from the inner centromere during prometaphase to midbody during cytokinesis and participates in the organisation of the centre spindle by associating with polymerised microtubules.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Trastuzumab, Platinum Compound and Taxane Compound.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:593","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:593"},{"label":"UniProt O15392","url":"https://www.uniprot.org/uniprotkb/O15392/entry"},{"label":"NCBI Gene 332","url":"https://www.ncbi.nlm.nih.gov/gene/332"},{"label":"Ensembl ENSG00000089685","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000089685"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc","breast-her2-positive"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BIRC5","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:593","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:593","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15392","url":"https://www.uniprot.org/uniprotkb/O15392/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BIRC5","url":"https://civicdb.org/features/355","note":"2 evidence items, 0 assertions, 2 variants; diseases: Lung Non-small Cell Carcinoma, HER2 Positive Breast Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists BIRC5 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA BIRC5: RNA tissue enhanced (bone marrow 36 nTPM, lymphoid tissue 38 nTPM, testis 19 nTPM); blood lineage lineage enriched (T-cells 14 nTPM); high antibody staining in 1 normal tissue; highest cancer staining testis cancer (2 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas BIRC5 tissue","url":"https://www.proteinatlas.org/ENSG00000089685-BIRC5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000089685 associations","url":"https://platform.opentargets.org/target/ENSG00000089685/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:593","ensembl":"ENSG00000089685","uniprot":"O15392","entrez":"332","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ambrosini et al, Nat. Med, 1997, \"A novel anti-apoptosis gene, survivin, expressed in cancer and lymphoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9256286/","biology":"Multitasking protein that has dual roles in promoting cell proliferation and preventing apoptosis. Component of a chromosome passage protein complex (CPC) which is essential for chromosome alignment and segregation during mitosis and cytokinesis. Acts as an important regulator of the localisation of this complex; directs CPC movement to different locations from the inner centromere during prometaphase to midbody during cytokinesis and participates in the organisation of the centre spindle by associating with polymerised microtubules. Involved in the recruitment of CPC to centromeres during early mitosis via association with histone H3 phosphorylated at 'Thr-3' (H3pT3) during mitosis. The complex with RAN plays a role in mitotic spindle formation by serving as a physical scaffold to help deliver the RAN effector molecule TPX2 to microtubules. May counteract a default induction of apoptosis in G2/M phase. Location: Cytoplasm; Nucleus; Chromosome; Chromosome, centromere (UniProt). Locus 17q25.3 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease","HER2-positive breast cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"birc6","kind":"target","name":"BIRC6","aka":["baculoviral IAP repeat containing 6","Dual E2 ubiquitin-conjugating enzyme/E3 ubiquitin-protein ligase BIRC6","BRUCE"],"tldr":"BIRC6 (Dual E2 ubiquitin-conjugating enzyme/E3 ubiquitin-protein ligase BIRC6) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Breast cancer, Renal cell carcinoma and 5 more.","summary":"Anti-apoptotic protein known as inhibitor of apoptosis (IAP) which can regulate cell death by controlling caspases and by acting as an E3 ubiquitin-protein ligase. Unlike most IAPs, does not contain a RING domain and it is not a RING-type E3 ligase. Instead acts as a dual E2/E3 enzyme that combines ubiquitin conjugating (E2) and ubiquitin ligase (E3) activities in a single polypeptide.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.83, genetic association 0.19, somatic mutation 0.55). IntOGen calls it a driver in 21 cohorts (6 activating, 14 loss-of-function), covering Anal Squamous Cell Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Colorectal Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13516","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13516"},{"label":"UniProt Q9NR09","url":"https://www.uniprot.org/uniprotkb/Q9NR09/entry"},{"label":"NCBI Gene 57448","url":"https://www.ncbi.nlm.nih.gov/gene/57448"},{"label":"Ensembl ENSG00000115760","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115760"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","breast-cancer","rcc","endometrial","anal","colorectal","hcc","head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 6 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 14 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BIRC6","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13516","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13516","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NR09","url":"https://www.uniprot.org/uniprotkb/Q9NR09/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BIRC6","url":"https://civicdb.org/features/13783","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000115760","url":"https://platform.opentargets.org/target/ENSG00000115760/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"},{"label":"IntOGen BIRC6","url":"https://www.intogen.org/search?gene=BIRC6","note":"driver in 21 cohorts (Act 6, LoF 14); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BIRC6: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 10 nTPM); high antibody staining in 10 normal tissues; highest cancer staining breast cancer (4 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Breast cancer (all types), Renal cell carcinoma, Endometrial cancer, Anal cancer (squamous cell carcinoma), Colorectal cancer, Hepatocellular carcinoma and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9NR09","url":"https://www.uniprot.org/uniprotkb/Q9NR09/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BIRC6","url":"https://civicdb.org/features/13783","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen BIRC6","url":"https://www.intogen.org/search?gene=BIRC6","note":"driver in 21 cohorts (Act 6, LoF 14); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BIRC6 tissue","url":"https://www.proteinatlas.org/ENSG00000115760-BIRC6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115760 associations","url":"https://platform.opentargets.org/target/ENSG00000115760/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13516","ensembl":"ENSG00000115760","uniprot":"Q9NR09","entrez":"57448","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen et al, Biochem. Biophys. Res. Commun, 1999, \"A human IAP-family gene, apollon, expressed in human brain cancer cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10544019/","biology":"Anti-apoptotic protein known as inhibitor of apoptosis (IAP) which can regulate cell death by controlling caspases and by acting as an E3 ubiquitin-protein ligase. Unlike most IAPs, does not contain a RING domain and it is not a RING-type E3 ligase. Instead acts as a dual E2/E3 enzyme that combines ubiquitin conjugating (E2) and ubiquitin ligase (E3) activities in a single polypeptide. Ubiquitination is mediated by a non-canonical E1 ubiquitin activating enzyme UBA6. Ubiquitinates CASP3, CASP7 and CASP9 and inhibits their caspase activity; also ubiquitinates their procaspases but to a weaker extent. Ubiquitinates pro-apoptotic factors DIABLO/SMAC and HTRA2. Location: Golgi apparatus, trans-Golgi network membrane; Endosome; Cytoplasm, cytoskeleton, spindle pole; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 2p22.3 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 3 cohorts (BLCA)","Breast cancer: IntOGen driver in 2 cohorts (BRCA)","Renal cell carcinoma: IntOGen driver in 2 cohorts (CCRCC)","Endometrial cancer: IntOGen driver in 2 cohorts (UCEC)","Anal cancer: IntOGen driver in 1 cohort (ANSC)","Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)"],"targetClass":"enzyme","prevalence":[]},{"id":"birc7","kind":"target","name":"BIRC7","aka":["baculoviral IAP repeat containing 7","Baculoviral IAP repeat-containing protein 7","mliap","ML-IAP","RNF50"],"tldr":"BIRC7 (Baculoviral IAP repeat-containing protein 7) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Cisplatin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13702","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13702"},{"label":"UniProt Q96CA5","url":"https://www.uniprot.org/uniprotkb/Q96CA5/entry"},{"label":"NCBI Gene 79444","url":"https://www.ncbi.nlm.nih.gov/gene/79444"},{"label":"Ensembl ENSG00000101197","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101197"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Papillary Thyroid Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BIRC7","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13702","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13702","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96CA5","url":"https://www.uniprot.org/uniprotkb/Q96CA5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BIRC7","url":"https://civicdb.org/features/14842","note":"2 evidence items, 0 assertions, 1 variants; diseases: Colon Cancer, Papillary Thyroid Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA BIRC7: RNA tissue enhanced (placenta 6 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas BIRC7 tissue","url":"https://www.proteinatlas.org/ENSG00000101197-BIRC7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000101197 associations","url":"https://platform.opentargets.org/target/ENSG00000101197/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13702","ensembl":"ENSG00000101197","uniprot":"Q96CA5","entrez":"79444","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lin J.-H. et al, Biochem. Biophys. Res. Commun, 2000, \"KIAP, a novel member of the inhibitor of apoptosis protein family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11162435/","biology":"Apoptotic regulator capable of exerting proapoptotic and anti-apoptotic activities and plays crucial roles in apoptosis, cell proliferation, and cell cycle control. Its anti-apoptotic activity is mediated through the inhibition of CASP3, CASP7 and CASP9, as well as by its E3 ubiquitin-protein ligase activity. As it is a weak caspase inhibitor, its anti-apoptotic activity is thought to be due to its ability to ubiquitinate DIABLO/SMAC targeting it for degradation thereby promoting cell survival. May contribute to caspase inhibition, by blocking the ability of DIABLO/SMAC to disrupt XIAP/BIRC4-caspase interactions. Protects against apoptosis induced by TNF or by chemical agents such as adriamycin, etoposide or staurosporine. Suppression of apoptosis is mediated by activation of MAPK8/JNK1, and possibly also of MAPK9/JNK2. Location: Nucleus; Cytoplasm; Golgi apparatus (UniProt). Locus 20q13.33 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"blk","kind":"target","name":"BLK","aka":["BLK proto-oncogene, Src family tyrosine kinase","Tyrosine-protein kinase Blk","MGC10442"],"tldr":"BLK (Tyrosine-protein kinase Blk) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 2 more.","summary":"Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signalling. B-cell receptor (BCR) signalling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signalling that ultimately leads to B-cell activation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Ibrutinib. Open Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.81, genetic association 0.48, clinical 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1057","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1057"},{"label":"UniProt P51451","url":"https://www.uniprot.org/uniprotkb/P51451/entry"},{"label":"NCBI Gene 640","url":"https://www.ncbi.nlm.nih.gov/gene/640"},{"label":"Ensembl ENSG00000136573","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136573"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","non-hodgkin-lymphoma","cml","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: B-cell Acute Lymphoblastic Leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BLK","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1057","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1057","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51451","url":"https://www.uniprot.org/uniprotkb/P51451/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BLK","url":"https://civicdb.org/features/594","note":"1 evidence items, 0 assertions, 1 variants; diseases: B-cell Acute Lymphoblastic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000136573","url":"https://platform.opentargets.org/target/ENSG00000136573/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.55, non-Hodgkin lymphoma 0.56, chronic myelogenous leukaemia, BCR-ABL1 positive 0.60, myeloproliferative neoplasm 0.60, leukaemia 0.61 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA BLK: RNA group enriched (intestine 40 nTPM, lymphoid tissue 50 nTPM); blood lineage lineage enriched (B-cells 168 nTPM); high antibody staining in 2 normal tissues. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (chronic myeloid leukemia, acute lymphoblastic leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas BLK tissue","url":"https://www.proteinatlas.org/ENSG00000136573-BLK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136573 associations","url":"https://platform.opentargets.org/target/ENSG00000136573/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1057","ensembl":"ENSG00000136573","uniprot":"P51451","entrez":"640","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Islam K.B. et al, J. Immunol, 1995, \"Molecular cloning, characterization, and chromosomal localization of a human lymphoid tyrosine kinase related to murine Blk\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7822795/","biology":"Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signalling. B-cell receptor (BCR) signalling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signalling that ultimately leads to B-cell activation. Signalling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signalling for growth arrest and apoptosis downstream of B-cell receptor. Specifically binds and phosphorylates CD79A at 'Tyr-188'and 'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207'. Also phosphorylates the immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C. Location: Cell membrane (UniProt). Locus 8p23.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.60 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Chronic myeloid leukaemia: Open Targets association 0.60 with chronic myelogenous leukaemia, BCR-ABL1 positive (MONDO_0011996)","Acute lymphoblastic leukaemia: Open Targets association 0.55 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"kinase","prevalence":[]},{"id":"blm","kind":"target","name":"BLM","aka":["BLM RecQ like helicase","RecQ-like DNA helicase BLM","RECQL3","RECQ2"],"tldr":"BLM (RecQ-like DNA helicase BLM) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Colorectal cancer, Breast cancer and 4 more.","summary":"ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction. Participates in DNA replication and repair. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA.\n\nOpen Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes genetic literature 0.64, affected pathway 0.87, literature 0.97, genetic association 0.73, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1058","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1058"},{"label":"UniProt P54132","url":"https://www.uniprot.org/uniprotkb/P54132/entry"},{"label":"NCBI Gene 641","url":"https://www.ncbi.nlm.nih.gov/gene/641"},{"label":"Ensembl ENSG00000197299","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197299"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","colorectal","breast-cancer","ovarian","skin-cancer","endometrial","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BLM","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1058","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1058","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54132","url":"https://www.uniprot.org/uniprotkb/P54132/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000197299","url":"https://platform.opentargets.org/target/ENSG00000197299/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.62, ovarian cancer 0.58, endometrial cancer 0.53, non-Hodgkin lymphoma 0.51, skin cancer 0.54, breast cancer 0.61 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1058","ensembl":"ENSG00000197299","uniprot":"P54132","entrez":"641","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ellis N.A. et al, Cell, 1995, \"The Bloom's syndrome gene product is homologous to RecQ helicases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7585968/","biology":"ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction. Participates in DNA replication and repair. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution. Binds single-stranded DNA (ssDNA), forked duplex DNA and Holliday junction DNA. Unwinds G-quadruplex DNA; unwinding occurs in the 3'-5' direction and requires a 3' single-stranded end of at least 7 nucleotides. Location: Nucleus (UniProt). Locus 15q26.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)","Colorectal cancer: Open Targets association 0.62 with colorectal cancer (MONDO_0005575)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Endometrial cancer: Open Targets association 0.53 with endometrial cancer (MONDO_0011962)"],"targetClass":"enzyme","prevalence":[]},{"id":"bmp2","kind":"target","name":"BMP2","aka":["bone morphogenetic protein 2","Bone morphogenetic protein 2","BMP2A"],"tldr":"BMP2 (Bone morphogenetic protein 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis. Induces cartilage and bone formation. Initiates the canonical BMP signalling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1069","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1069"},{"label":"UniProt P12643","url":"https://www.uniprot.org/uniprotkb/P12643/entry"},{"label":"NCBI Gene 650","url":"https://www.ncbi.nlm.nih.gov/gene/650"},{"label":"Ensembl ENSG00000125845","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125845"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BMP2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1069","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1069","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12643","url":"https://www.uniprot.org/uniprotkb/P12643/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000125845","url":"https://platform.opentargets.org/target/ENSG00000125845/associations","note":"association with cancer (MONDO_0004992) 0.51; per-cancer scores at or above 0.5: colorectal cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1069","ensembl":"ENSG00000125845","uniprot":"P12643","entrez":"650","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wozney J.M. et al, Science, 1988, \"Novel regulators of bone formation: molecular clones and activities\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3201241/","biology":"Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis. Induces cartilage and bone formation. Initiates the canonical BMP signalling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Also acts to promote expression of HAMP, via the interaction with its receptor BMPR1A/ALK3. Location: Secreted (UniProt). Locus 20p12.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"bmp4","kind":"target","name":"BMP4","aka":["bone morphogenetic protein 4","Bone morphogenetic protein 4","BMP2B"],"tldr":"BMP4 (Bone morphogenetic protein 4) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction. Initiates the canonical BMP signalling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.99, animal model 0.76, genetic association 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1071","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1071"},{"label":"UniProt P12644","url":"https://www.uniprot.org/uniprotkb/P12644/entry"},{"label":"NCBI Gene 652","url":"https://www.ncbi.nlm.nih.gov/gene/652"},{"label":"Ensembl ENSG00000125378","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125378"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BMP4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1071","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1071","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12644","url":"https://www.uniprot.org/uniprotkb/P12644/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000125378","url":"https://platform.opentargets.org/target/ENSG00000125378/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: colorectal cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1071","ensembl":"ENSG00000125378","uniprot":"P12644","entrez":"652","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wozney J.M. et al, Science, 1988, \"Novel regulators of bone formation: molecular clones and activities\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3201241/","biology":"Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction. Initiates the canonical BMP signalling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Positively regulates the expression of odontogenic development regulator MSX1 via inducing the IPO7-mediated import of SMAD1 to the nucleus. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 14q22.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"bmp5","kind":"target","name":"BMP5","aka":["bone morphogenetic protein 5","Bone morphogenetic protein 5"],"tldr":"BMP5 (Bone morphogenetic protein 5) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cartilage and bone formation or neurogenesis. Initiates the canonical BMP signalling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.92, animal model 0.62, genetic association 0.58, somatic mutation 0.50).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1072","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1072"},{"label":"UniProt P22003","url":"https://www.uniprot.org/uniprotkb/P22003/entry"},{"label":"NCBI Gene 653","url":"https://www.ncbi.nlm.nih.gov/gene/653"},{"label":"Ensembl ENSG00000112175","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112175"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BMP5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1072","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1072","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P22003","url":"https://www.uniprot.org/uniprotkb/P22003/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000112175","url":"https://platform.opentargets.org/target/ENSG00000112175/associations","note":"association with cancer (MONDO_0004992) 0.53; per-cancer scores at or above 0.5: colorectal cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1072","ensembl":"ENSG00000112175","uniprot":"P22003","entrez":"653","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Celeste A.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2263636/","biology":"Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cartilage and bone formation or neurogenesis. Initiates the canonical BMP signalling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Can also signal through non-canonical pathway such as MAPK p38 signalling cascade to promote chondrogenic differentiation. Promotes the expression of HAMP, this is repressed by its interaction with ERFE. Location: Secreted (UniProt). Locus 6p12.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"bmp6","kind":"target","name":"BMP6","aka":["bone morphogenetic protein 6","Bone morphogenetic protein 6","VGR1"],"tldr":"BMP6 (Bone morphogenetic protein 6) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer.","summary":"Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes including cartilage and bone formation. Also plays an important role in the regulation of HAMP/hepcidin expression and iron metabolism by acting as a ligand for haemojuvelin/HJV. Also acts to promote expression of HAMP, potentially via the interaction with its receptor BMPR1A/ALK3.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1073","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1073"},{"label":"UniProt P22004","url":"https://www.uniprot.org/uniprotkb/P22004/entry"},{"label":"NCBI Gene 654","url":"https://www.ncbi.nlm.nih.gov/gene/654"},{"label":"Ensembl ENSG00000153162","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153162"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BMP6","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1073","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1073","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P22004","url":"https://www.uniprot.org/uniprotkb/P22004/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen BMP6","url":"https://www.intogen.org/search?gene=BMP6","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1073","ensembl":"ENSG00000153162","uniprot":"P22004","entrez":"654","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Celeste A.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2263636/","biology":"Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes including cartilage and bone formation. Also plays an important role in the regulation of HAMP/hepcidin expression and iron metabolism by acting as a ligand for haemojuvelin/HJV. Also acts to promote expression of HAMP, potentially via the interaction with its receptor BMPR1A/ALK3. Initiates the canonical BMP signalling cascade by associating with type I receptor ACVR1 and type II receptor ACVR2B. In turn, ACVR1 propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target. Can also signal through non-canonical pathway such as TAZ-Hippo signalling cascade to modulate VEGF signalling by regulating VEGFR2 expression. Location: Secreted (UniProt). Locus 6p24.3 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"bmp7","kind":"target","name":"BMP7","aka":["bone morphogenetic protein 7","Bone morphogenetic protein 7","OP-1"],"tldr":"BMP7 (Bone morphogenetic protein 7) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Burkitt lymphoma.","summary":"Growth factor of the TGF-beta superfamily that plays important role in various biological processes, including embryogenesis, haematopoiesis, neurogenesis and skeletal morphogenesis. Initiates the canonical BMP signalling cascade by associating with type I receptor ACVR1 and type II receptor ACVR2A. Once all three components are bound together in a complex at the cell surface, ACVR2A phosphorylates and activates ACVR1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1074","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1074"},{"label":"UniProt P18075","url":"https://www.uniprot.org/uniprotkb/P18075/entry"},{"label":"NCBI Gene 655","url":"https://www.ncbi.nlm.nih.gov/gene/655"},{"label":"Ensembl ENSG00000101144","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101144"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["tumor-dormancy"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BMP7","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1074","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1074","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P18075","url":"https://www.uniprot.org/uniprotkb/P18075/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BMP7","url":"https://civicdb.org/features/608","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA BMP7: RNA tissue enhanced (choroid plexus 34 nTPM, thyroid gland 43 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas BMP7 tissue","url":"https://www.proteinatlas.org/ENSG00000101144-BMP7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000101144 associations","url":"https://platform.opentargets.org/target/ENSG00000101144/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1074","ensembl":"ENSG00000101144","uniprot":"P18075","entrez":"655","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Oezkaynak et al, EMBO J, 1990, \"OP-1 cDNA encodes an osteogenic protein in the TGF-beta family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2357959/","biology":"Growth factor of the TGF-beta superfamily that plays important role in various biological processes, including embryogenesis, haematopoiesis, neurogenesis and skeletal morphogenesis. Initiates the canonical BMP signalling cascade by associating with type I receptor ACVR1 and type II receptor ACVR2A. Once all three components are bound together in a complex at the cell surface, ACVR2A phosphorylates and activates ACVR1. In turn, ACVR1 propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. For specific functions such as growth cone collapse in developing spinal neurons and chemotaxis of monocytes, also uses BMPR2 as type II receptor. Can also signal through non-canonical pathways such as P38 MAP kinase signalling cascade that promotes brown adipocyte differentiation through activation of target genes, including members of the SOX family of transcription factors. Location: Secreted (UniProt). Locus 20q13.31 (HGNC).","whereFound":["Burkitt lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"bmpr1a","kind":"target","name":"BMPR1A","aka":["bone morphogenetic protein receptor type 1A","Bone morphogenetic protein receptor type-1A","ALK3","CD292","ACVRLK3"],"tldr":"BMPR1A (Bone morphogenetic protein receptor type-1A) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer, Colorectal cancer, Breast cancer and 1 more.","summary":"On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6.\n\nOpen Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.69, somatic mutation 0.83, genetic literature 0.61). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1076","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1076"},{"label":"UniProt P36894","url":"https://www.uniprot.org/uniprotkb/P36894/entry"},{"label":"NCBI Gene 657","url":"https://www.ncbi.nlm.nih.gov/gene/657"},{"label":"Ensembl ENSG00000107779","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107779"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["gastric","colorectal","breast-cancer","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BMPR1A","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1076","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1076","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P36894","url":"https://www.uniprot.org/uniprotkb/P36894/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107779","url":"https://platform.opentargets.org/target/ENSG00000107779/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.56, ovarian cancer 0.54, breast cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen BMPR1A","url":"https://www.intogen.org/search?gene=BMPR1A","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1076","ensembl":"ENSG00000107779","uniprot":"P36894","entrez":"657","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: ten Dijke et al, Oncogene, 1993, \"Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8397373/","biology":"On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. May promote the expression of HAMP, potentially via its interaction with BMP2. Location: Cell membrane; Cell surface (UniProt). Locus 10q23.2 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.54 with ovarian cancer (MONDO_0008170)"],"targetClass":"kinase","prevalence":[]},{"id":"bnc2","kind":"target","name":"BNC2","aka":["basonuclin zinc finger protein 2","Zinc finger protein basonuclin-2","BSN2","FLJ20043","bn2"],"tldr":"BNC2 (Zinc finger protein basonuclin-2) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer and Basal cell carcinoma.","summary":"Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes. May also play an important role in early urinary-tract development.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.87, animal model 0.45, genetic association 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30988","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30988"},{"label":"UniProt Q6ZN30","url":"https://www.uniprot.org/uniprotkb/Q6ZN30/entry"},{"label":"NCBI Gene 54796","url":"https://www.ncbi.nlm.nih.gov/gene/54796"},{"label":"Ensembl ENSG00000173068","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173068"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BNC2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:30988","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30988","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6ZN30","url":"https://www.uniprot.org/uniprotkb/Q6ZN30/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000173068","url":"https://platform.opentargets.org/target/ENSG00000173068/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: skin cancer 0.52, basal cell carcinoma 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:30988","ensembl":"ENSG00000173068","uniprot":"Q6ZN30","entrez":"54796","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes. May also play an important role in early urinary-tract development. Location: Nucleus (UniProt). Locus 9p22.3-p22.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Basal cell carcinoma: Open Targets association 0.53 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"transcription","prevalence":[]},{"id":"braf","kind":"target","name":"BRAF","aka":[],"tldr":"BRAF is a signalling kinase mutated in half of melanomas; blocking it with two drugs at once became a template for targeted therapy.","summary":"BRAF V600E/K mutations occur in ~50% of melanoma, ~10% of colorectal, ~2% of NSCLC, most papillary thyroid cancers, and hairy-cell leukaemia. BRAF+MEK inhibitor doublets (dabrafenib/trametinib, encorafenib/binimetinib) are standard; encorafenib+cetuximab (+chemotherapy, BREAKWATER) is first-line in BRAF V600E colorectal cancer since 2025-2026. Tumour-agnostic approval of dabrafenib/trametinib exists.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/BRAF_(gene)","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/BRAF_(gene)"}],"tags":["driver","kinase"],"related":["braf-v600e","braf-class-ii-iii","braf-fusion"],"cancers":["melanoma","colorectal","thyroid","nsclc","pancreatic","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":["guardant360-cdx","oncomine-dx-target-test","therascreen-cdx","gc101-til"],"companies":["imagene-ai","nested-therapeutics"],"institutions":[],"pathways":["ras-mapk","colorectal-cancer-signalling","glioma-signalling","melanoma-signalling","pancreatic-cancer-signalling","thyroid-cancer-signalling"],"terms":["sidedness","braf-v600-mutation"],"trials":["nct05503797"],"people":[],"bottlenecks":[],"keyPapers":["paper-witkiewicz-pancreatic-exomes-utsw-nat-commun-2015","paper-philip-kras-wild-type-pancreatic-ccr-2022","paper-aguirre-real-time-genomic-characterisation-pancreatic-cancer-discov-2018","paper-venderbosch-mmr-braf-metastatic-colorectal-pooled-ccr-2014","paper-loree-tumour-location-continuum-colorectal-ccr-2018","paper-kopetz-beacon-encorafenib-braf-colorectal-nejm-2019","paper-breakwater-nejm-2025","paper-jones-non-v600-braf-colorectal-jco-2017","paper-kris-lung-cancer-mutation-consortium-jama-2014"],"journals":[],"dependsOn":[],"notes":["Pancreatic ductal adenocarcinoma: BRAF mutations or fusions in 1 to 3% overall but 13.0% of KRAS wild-type tumours, with BRAF fusions in a further 6.6% of them (Philip 2022). BRAF mutations are mutually exclusive with KRAS and conferred vemurafenib sensitivity in models (Witkiewicz 2015); the in-frame N486_P490 deletion class, the commonest BRAF event on the MSK panel, responds to MAPK pathway inhibition (Aguirre 2018).","Colorectal cancer: V600E in 6 to 18% by cohort and 8.2% of first-line metastatic patients (Venderbosch 2014), overwhelmingly right-sided (19.2% against 2.9%) and the molecular signature of the serrated, CIMP-high route, where it accompanies sporadic MLH1 methylation with an odds ratio of 203 (Weisenberger 2006). It carries the worst prognosis of any common colorectal genotype (overall survival hazard ratio 1.91) and is the one genotype with its own regimen, encorafenib plus cetuximab (BEACON CRC, BREAKWATER). Non-V600 mutations are a separate disease: 2.2% of patients, 22% of all BRAF mutations, younger, left-sided and with median overall survival of 60.7 months against 11.4 for V600E (Jones 2017); no approval covers them.","Lung cancer: V600E is only 1 to 2% of adenocarcinomas and a minority of all BRAF mutations, 31 of 133 records in the largest panel cohort, with class II and class III alleles (G469A, G466V, K601E, D594G) making up the rest (cBioPortal). That inverts the melanoma ratio and has a practical consequence: most BRAF-mutant lung cancer is not covered by the licensed V600E combination, and a class III allele can be activated rather than inhibited by a V600-directed drug."],"symbol":"BRAF","role":[],"sources":[],"specificity":"tumour-specific","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Tumour-specific alteration: 3 of 3 label readouts filed under it measure a sequence variant (BRAF class II and class III mutations (non-V600), BRAF fusion or rearrangement, BRAF V600E (and V600K)) absent from normal cells. HPA BRAF: RNA low tissue specificity; high antibody staining in 29 normal tissues; highest cancer staining thyroid cancer (4 of 4 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Colorectal cancer, Thyroid cancer, Lung cancer (all types), Biliary tract cancer (all types), Brain and spinal cord tumours (all types)); approvals of single-target medicines aimed at it also list Erdheim-Chester disease, Rosai-Dorfman disease and other histiocytic neoplasms, Langerhans cell histiocytosis (LCH), not counted; Open Targets associates it with 21 specific cancer types at or above 0.5 (melanoma, colorectal cancer, lung cancer, non-small cell lung carcinoma, lung adenocarcinoma, hepatocellular carcinoma and more). Tissue-agnostic: Dabrafenib US 2014: \"With trametinib: BRAF V600E/K metastatic melanoma; later adjuvant melanoma, BRAF V600E NSCLC, anaplastic thyroid cancer,\"; Dabrafenib + trametinib US 2022: \"BRAF V600E solid tumours, tumour-agnostic (age ≥6)\". (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"BRAF class II and class III mutations (non-V600)","url":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools","note":"FDA: List of FDA-Authorized Companion Diagnostic Devices (the Ojemda row names V600 mutations and fusions; no companion claim covers class II or III point mutations)"},{"label":"BRAF fusion or rearrangement label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=ea3a9631-3a66-6a7c-e053-2995a90ae2ad","note":"BRAF fusion or rearrangement, or BRAF V600 mutation"},{"label":"BRAF V600E (and V600K) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=fee1e6b1-e1a5-4254-9f2e-a70e0f8dbdea","note":"BRAF V600E"},{"label":"Human Protein Atlas BRAF tissue","url":"https://www.proteinatlas.org/ENSG00000157764-BRAF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157764 associations","url":"https://platform.opentargets.org/target/ENSG00000157764/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1097","ensembl":"ENSG00000157764","uniprot":"P15056","entrez":"673","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ikawa et al, Mol. Cell. Biol, 1988, \"B-raf, a new member of the raf family, is activated by DNA rearrangement\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3043188/","biology":"Serine/threonine kinase in the MAPK cascade; class I (V600) mutants are monomer-active and inhibitor-sensitive, class II/III are not.","whereFound":["Melanoma","Colorectal","Thyroid","NSCLC","Glioma (paediatric)","Pancreatic ductal adenocarcinoma: mutation (v600e, in-frame deletion) or fusion 1-3%","Colorectal cancer: v600e mutation 6-18%","Colorectal cancer: class ii and class iii mutations (d594, g466, g469, k601, n581) and fusions 2-4%","Gallbladder cancer: mutation about 3%","Non-small-cell lung cancer: v600e mutation 1-2%","Non-small-cell lung cancer: class ii and class iii mutations (g469x, g466x, k601e, d594x) 3-4%"],"targetClass":"kinase","prevalence":[{"cancerId":"melanoma","pct":"45-50","measure":"V600 mutation","source":"https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018"},{"cancerId":"colorectal","pct":"8-12","measure":"V600E mutation","source":"https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018"},{"cancerId":"thyroid","pct":"40-60","measure":"Papillary V600E","source":"https://www.cbioportal.org/study/summary?id=thca_tcga_pan_can_atlas_2018","note":"Near-universal in some PTC variants"},{"cancerId":"nsclc","pct":"2-4","measure":"V600E and non-V600","source":"https://www.cbioportal.org/study/summary?id=luad_tcga_pan_can_atlas_2018"},{"cancerId":"pancreatic","pct":"1-3","measure":"Mutation (V600E, in-frame deletion) or fusion","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal: mutation in 22 of 2,336, 0.9% (N486_P490del 6, V600E 3, V600R 2, T599dup 2), plus 7 fusions (SND1-BRAF 3) in pdac_msk_2024; 3 of 109, all V600E, in paad_utsw_2015, where BRAF mutations were mutually exclusive with KRAS and conferred vemurafenib sensitivity in models (Witkiewicz 2015); 2 of 179 in paad_tcga_pan_can_atlas_2018 and 4 of 395 (V600E 2) in pancreas_msk_2024. 13.0% of 266 KRAS wild-type tumours carried a BRAF mutation and 6.6% a BRAF fusion (Philip 2022). Two of 71 advanced patients carried oncogenic in-frame BRAF deletions, the first clinical evidence that they respond to MAPK pathway inhibition (Aguirre 2018)."},{"cancerId":"colorectal","pct":"6-18","measure":"V600E mutation","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 575 of 7,237, 7.9%, in crc_msk_2026 (575 of 859 BRAF mutation records); 85 of 1,134, 7.5%, in crc_msk_2017; 88 of 1,516, 5.8%, in crc_eo_2020; 48 of 534, 9.0%, in coadread_tcga_pan_can_atlas_2018; 20 of 224, 8.9%, in coadread_tcga_pub; 111 of 619, 17.9%, in coadread_dfci_2016 (a prospective population cohort, so it captures the older, right-sided, sporadic MSI cases that trial cohorts lose); 23 of 1,015, 2.3%, in crc_sysucc_2022. BRAF mutation was found in 250 of 3,063, 8.2%, of first-line metastatic patients pooled from CAIRO, CAIRO2, COIN and FOCUS (Venderbosch 2014)."},{"cancerId":"colorectal","pct":"2-4","measure":"Class II and class III mutations (D594, G466, G469, K601, N581) and fusions","source":"https://doi.org/10.1200/JCO.2016.71.4394","note":"208 of 9,643 sequenced metastatic colorectal cancers, 2.2%, and 22% of all BRAF mutations found (Jones 2017). cBioPortal, mutation records in crc_msk_2026: D594G 46, G469A 9, D594N 9, G466E 6, G469R 6, G469V 5, K601E 4, N581S 4, G466V 3, against 575 V600E; BRAF fusions appear as structural variants in 24 of 7,237 samples (TRIM24-BRAF 9, MKRN1-BRAF 4)."},{"cancerId":"gallbladder","pct":3,"measure":"Mutation","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Mutation in 7 of 244 samples, 2.9%, in cBioPortal gbc_mskcc_2022 and 5 of 103, 4.9%, in gbc_msk_2018; none of 32 exomes in gbc_shanghai_2014."},{"cancerId":"nsclc","pct":"1-2","measure":"V600E mutation","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal, V600E records: 31 of 2,653 samples, 1.2%, in luad_mskcc_2023_met_organotropism; 18 of 915, 2.0%, in lung_msk_2017; 19 of 2,621, 0.7%, in nsclc_ctdx_msk_2022; 9 of 566, 1.6%, in luad_tcga_pan_can_atlas_2018; 5 of 230, 2.2%, in luad_tcga_pub. Any BRAF mutation is far commoner: 132 of 2,653 (5.0%), 50 of 915 (5.5%) and 41 of 566 (7.2%). BRAF of any kind was the driver in 16 of 733 fully genotyped adenocarcinomas, 2% (Kris 2014)."},{"cancerId":"nsclc","pct":"3-4","measure":"Class II and class III mutations (G469X, G466X, K601E, D594X)","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal, mutation records in luad_mskcc_2023_met_organotropism: G469A 15, G466V 8, D594G 5, G469V 4, K601E 4, D594N 3, against 31 V600E, in the 132 of 2,653 samples with any BRAF mutation (5.0%); in nsclc_ctdx_msk_2022, 60 non-V600 records against 19 V600E in the 79 of 2,621 mutated samples (3.0%); in luad_tcga_pan_can_atlas_2018, 35 non-V600 records against 9 V600E."}]},{"id":"brca","kind":"target","name":"BRCA1 / BRCA2 (HRD)","aka":[],"tldr":"DNA repair genes. Inheriting a broken copy raises breast and ovarian cancer risk, but tumours that lose them become uniquely vulnerable to PARP inhibitors and platinum.","summary":"BRCA1 and BRCA2 are homologous recombination repair genes; a tumour that loses both copies must rely on error-prone repair, which makes it uniquely vulnerable to PARP inhibitors and platinum. Germline BRCA1/2 mutations account for roughly 5 to 10 percent of breast cancers and about 15 percent of ovarian cancers, with 10 to 20 percent of triple-negative breast cancers (mostly BRCA1) and 3 to 5 percent of HR-positive cases (mostly BRCA2); BRCA2 alterations occur in 8 to 12 percent of metastatic prostate cancers and germline BRCA1/2 in 5 to 8 percent of pancreatic cancers. Homologous recombination deficiency (HRD) extends the phenotype to BRCA-wild-type tumours and is measured by genomic scars (myChoice CDx). HRD predicts benefit from PARP inhibitors and platinum, though the best assay and cut-off remain debated. The same genes guide both prevention and treatment.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/BRCA_mutation","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/BRCA_mutation"}],"tags":["germline","biomarker"],"related":["platinum-plus-hrd","brca-germline","brca-somatic","hrd-positive"],"cancers":["tnbc","ovarian","prostate","pancreatic","breast-hr-positive","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":["bracanalysis-cdx","mychoice-cdx","olaparib","rucaparib","talazoparib"],"companies":[],"institutions":[],"pathways":["ddr","breast-cancer-signalling","pancreatic-cancer-signalling"],"terms":["gbrca-mutation","hrd"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-couch-tnbc-germline-17-genes-jco-2015","paper-sharma-tnbc-registry-germline-brca-bcrt-2014","paper-hahnen-geparsixto-germline-brca-jama-oncol-2017","paper-shimelis-tnbc-risk-genes-jnci-2018","paper-staaf-tnbc-whole-genome-scan-b-nat-med-2019","paper-bertucci-metastatic-breast-genomics-nature-2019","paper-hu-germline-mutations-pancreatic-cancer-risk-jama-2018","paper-shindo-germline-sporadic-pancreatic-jco-2017","paper-yurgelun-germline-second-hits-resected-pancreatic-genet-med-2019","paper-golan-brca-pancreatic-platinum-survival-bjc-2014","paper-polo-olaparib-maintenance-gbrca-pancreatic-nejm-2019","paper-lowery-prospective-germline-exocrine-pancreatic-jnci-2018","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-wardell-biliary-drivers-germline-j-hepatol-2018","paper-weinberg-biliary-profiling-jgo-2019","paper-pritchard-inherited-dna-repair-metastatic-prostate-nejm-2016","paper-abida-triton2-rucaparib-brca-jco-2020","paper-castro-germline-brca-prostate-outcomes-jco-2013"],"journals":[],"dependsOn":[],"notes":["Triple-negative breast cancer: germline BRCA1 8.5% and BRCA2 2.7% of 1,824 unselected patients (Couch 2015), 17.2% together in GeparSixto (Hahnen 2017); most homologous recombination deficiency is not germline, since BRCA1 promoter hypermethylation explained 40% of HRDetect-high genomes against 21% for BRCA1/2 mutation (Staaf 2019). Founder alleles dominate in the Bahamas (23% of unselected patients), Mexico (BRCA1 ex9-12del, 41% of mutations in young TNBC) and Ashkenazi Jews (Donenberg 2011, Villarreal-Garza 2015, Struewing 1997).","Pancreatic ductal adenocarcinoma: germline BRCA2 1.4 to 2% and BRCA1 0.4 to 1% (Hu 2018, Shindo 2017), with tumour sequencing adding somatic cases; loss of the second allele is present in about 60% of BRCA1/2 tumours (Lowery 2018) and somatic second hits in 44% of germline carriers (Yurgelun 2019). Carriers with advanced disease lived 22 months on platinum against 9 on non-platinum (Golan 2014), and core-gene or biallelic homologous recombination alterations predicted first-line platinum benefit (hazard ratio 0.44; Park 2020). POLO's olaparib maintenance requires a germline BRCA1/2 variant after 16 weeks of platinum (Golan 2019)."],"symbol":"BRCA1, BRCA2","role":[],"sources":[],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Breast cancer (BC); Breast cancer (BC) under involvement in disease, and the record is a tumour suppressor; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA BRCA1: RNA low tissue specificity; blood lineage group enriched (dendritic cells 11 nTPM, granulocytes 11 nTPM, monocytes 15 nTPM); high antibody staining in 1 normal tissue; highest cancer staining breast cancer (4 of 12 high). HPA BRCA2: RNA tissue enhanced (bone marrow 5 nTPM, lymphoid tissue 4 nTPM, testis 3 nTPM); no normal tissue stained high; highest cancer staining melanoma (3 of 11 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Prostate cancer, Pancreatic ductal adenocarcinoma, Biliary tract cancer (all types)); Open Targets associates it with 35 specific cancer types at or above 0.5 (breast cancer, hereditary breast ovarian cancer syndrome, ovarian cancer, breast-ovarian cancer, familial, susceptibility to, 1, breast carcinoma, BRCA1-related cancer predisposition and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P38398","url":"https://www.uniprot.org/uniprotkb/P38398/entry","note":"involvement in disease"},{"label":"UniProt P51587","url":"https://www.uniprot.org/uniprotkb/P51587/entry","note":"involvement in disease"},{"label":"Human Protein Atlas BRCA1 tissue","url":"https://www.proteinatlas.org/ENSG00000012048-BRCA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas BRCA2 tissue","url":"https://www.proteinatlas.org/ENSG00000139618-BRCA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000012048 associations","url":"https://platform.opentargets.org/target/ENSG00000012048/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000139618 associations","url":"https://platform.opentargets.org/target/ENSG00000139618/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Homologous recombination repair; loss forces reliance on error-prone pathways.","whereFound":["Breast (esp. TNBC)","Ovarian","Prostate","Pancreatic","Triple-negative breast cancer: germline pathogenic variant 7-11%","Triple-negative breast cancer: germline pathogenic variant 3-4%","Pancreatic ductal adenocarcinoma: germline pathogenic variant 1.4-2%","Pancreatic ductal adenocarcinoma: germline pathogenic variant 0.4-1%","Gallbladder cancer: mutation (somatic or germline) 1-5%","Prostate cancer: inactivating mutation, germline or somatic, plus deep deletion 3-11% depending on disease state","Prostate cancer: inactivating mutation, germline or somatic 0.2-2% depending on disease state"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"tnbc","pct":"15-20","measure":"Germline BRCA1/2","source":"https://en.wikipedia.org/wiki/BRCA_mutation","note":"BRCA1 predominant"},{"cancerId":"ovarian","pct":"15-20","measure":"Germline BRCA1/2; ~25% including somatic","source":"https://en.wikipedia.org/wiki/BRCA_mutation"},{"cancerId":"prostate","pct":"8-12","measure":"Germline or somatic BRCA2 (metastatic)","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018"},{"cancerId":"pancreatic","pct":"5-8","measure":"Germline BRCA1/2","source":"https://www.cbioportal.org/study/summary?id=paad_tcga_pan_can_atlas_2018"},{"cancerId":"breast-hr-positive","pct":"3-5","measure":"Germline BRCA1/2","source":"https://en.wikipedia.org/wiki/BRCA_mutation","note":"BRCA2 predominant"},{"cancerId":"tnbc","pct":"7-11","measure":"Germline pathogenic variant","source":"https://doi.org/10.1200/JCO.2014.57.1414","note":"8.5% of 1,824 TNBC patients unselected for family history (Couch 2015); 11.1% of 207 registry patients (Sharma 2014); BRCA1 and BRCA2 together 17.2% (50 of 291) in GeparSixto (Hahnen 2017) and 11.2% (Couch 2015); pathogenic variants in the TNBC risk genes BARD1, BRCA1, BRCA2, PALB2 and RAD51D in 12.0% of 10,901 patients, 3.7% outside BRCA1/2 (Shimelis 2018). Biallelic loss of BRCA1 or BRCA2 in 29 of 237 whole genomes, 20 germline and 9 somatic (Staaf 2019)."},{"cancerId":"tnbc","pct":"3-4","measure":"Germline pathogenic variant","source":"https://doi.org/10.1200/JCO.2014.57.1414","note":"2.7% of 1,824 unselected patients (Couch 2015); 4.3% of 207 (Sharma 2014); somatic calls in 5 of 123, 4.1%, in brca_tcga_pan_can_atlas_2018, 7 of 299, 2.3%, in brca_metabric and 8 of 176, 4.5%, in breast_msk_2018 (cBioPortal). Metastatic TNBCs carried somatic biallelic loss-of-function mutations in homologous recombination genes in 7% against 2% of early TNBCs (Bertucci 2019)."},{"cancerId":"pancreatic","pct":"1.4-2","measure":"Germline pathogenic variant","source":"https://doi.org/10.1001/jama.2018.6228","note":"1.9% of 3,030 patients against 0.3% of controls, odds ratio 6.20 (Hu 2018); 12 of 854 apparently sporadic patients, 1.4% (Shindo 2017); 4 of 289 resected patients (Yurgelun 2019); 49 of 71 BRCA carriers in a three-centre series were BRCA2 (Golan 2014). Tumour sequencing (germline and somatic together): 67 of 2,336, 2.9%, in pdac_msk_2024; 8 of 383, 2.1%, in paad_qcmg_uq_2016; 11 of 395, 2.8%, in pancreas_msk_2024; 2 of 179 in paad_tcga_pan_can_atlas_2018 (cBioPortal). POLO screened 3,315 metastatic patients to randomise 154 germline BRCA1/2 carriers (Golan 2019)."},{"cancerId":"pancreatic","pct":"0.4-1","measure":"Germline pathogenic variant","source":"https://doi.org/10.1001/jama.2018.6228","note":"0.6% of 3,030 against 0.2% of controls, odds ratio 2.58 (Hu 2018); 3 of 854, 0.4% (Shindo 2017); 3 of 289 (Yurgelun 2019); 21 of 71 BRCA carriers (Golan 2014). Tumour sequencing: 16 of 2,336, 0.7%, in pdac_msk_2024; 5 of 383 in paad_qcmg_uq_2016; 2 of 179 in paad_tcga_pan_can_atlas_2018 (cBioPortal)."},{"cancerId":"gallbladder","pct":"1-5","measure":"Mutation (somatic or germline)","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"BRCA2 mutation in 13 of 244 samples, 5.3%, and BRCA1 in 3 of 244, 1.2%, in cBioPortal gbc_mskcc_2022; oncogenic BRCA1/2 variants among the actionable findings (Giraldo 2022); deleterious germline variants in BRCA1, BRCA2, RAD51D, MLH1 or MSH2 in 11% (16 of 146) of biliary tract cancer patients (Wardell 2018); gallbladder tumours had the highest rate of homologous recombination repair deficiency among biliary sites (Weinberg 2019)."},{"cancerId":"prostate","pct":"3-11","measure":"Inactivating mutation, germline or somatic, plus deep deletion","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"cBioPortal mutation: 8 of 494, 1.6%, in prad_tcga_pan_can_atlas_2018; 29 of 1,013, 2.9%, in prad_p1000; 19 of 424, 4.5%, in prad_mcspc_mskcc_2020; 91 of 2,260, 4.0%, in prostate_msk_2024; 37 of 444, 8.3%, in prad_su2c_2019; 10 of 150, 6.7%, in prad_su2c_2015. Deep deletion adds 2.2 to 11.5% (17 of 489, 3.5%, in prad_tcga_pan_can_atlas_2018; 13 of 444, 2.9%, in prad_su2c_2019; 7 of 61, 11.5%, in prad_mich). Germline: 37 of 692 men with metastatic disease unselected for family history, 5.3% (Pritchard 2016)."},{"cancerId":"prostate","pct":"0.2-2","measure":"Inactivating mutation, germline or somatic","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"cBioPortal mutation: 1 of 494, 0.2%, in prad_tcga_pan_can_atlas_2018; 6 of 1,013, 0.6%, in prad_p1000; 1 of 424, 0.2%, in prad_mcspc_mskcc_2020; 18 of 2,260, 0.8%, in prostate_msk_2024; 8 of 444, 1.8%, in prad_su2c_2019. Germline: 6 of 692, 0.9% (Pritchard 2016)."}]},{"id":"brd4","kind":"target","name":"BRD4","aka":["BET","BET bromodomain proteins (BRD2, BRD3, BRD4, BRDT)","bromodomain containing 4","MCAP","HUNK1"],"tldr":"BRD4 is a reader protein that docks on acetylated DNA packaging and pulls in the machinery that switches growth genes such as MYC on. BET inhibitors such as pelabresib and ZEN-3694 block that docking; in NUT carcinoma the cancer's own driver is a BRD4 fusion.","summary":"BRD4 (chromosome 19p13.12) is a chromatin reader of the BET (bromodomain and extra-terminal) family that binds acetylated histones, stays on chromatin through the cell cycle to preserve epigenetic memory and higher-order chromatin structure, and recruits the P-TEFb elongation complex to promoters and to distal enhancers to drive transcription of signal-inducible genes (UniProt O60885). In OnCo, BET inhibitors include pelabresib (phase 3 in primary myelofibrosis) and ZEN-3694, which binds the bromodomains of BRD2, BRD3 and BRD4 and is being tested in NUT carcinoma, prostate and triple-negative breast cancer; fedratinib carries BRD4 activity alongside JAK2 and FLT3; and NUT carcinoma is driven by a BRD4-NUT fusion, itself a BET protein, that the inhibitors displace from chromatin so the cells differentiate.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:13575","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13575"},{"label":"UniProt O60885","url":"https://www.uniprot.org/uniprotkb/O60885/entry"},{"label":"NCBI Gene 23476","url":"https://www.ncbi.nlm.nih.gov/gene/23476"}],"tags":["wave5-target"],"related":["myc","jak2"],"cancers":["nut-carcinoma","primary-myelofibrosis","prostate","tnbc"],"sections":[],"technologies":["epigenetic-drugs"],"targets":[],"drugs":["pelabresib","zen-3694","fedratinib"],"companies":[],"institutions":[],"pathways":["transcription-addiction","epigenetic-reprogramming","myc"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"BRD4","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists BRD4 among essential proteins and finds the RNA at low tissue specificity; the 3 medicines aimed at it (Pelabresib, ZEN-3694, Fedratinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA BRD4: RNA low tissue specificity; high antibody staining in 44 normal tissues; highest cancer staining skin cancer (12 of 12 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (NUT carcinoma (midline carcinoma with NUTM1 rearrangement), Myeloid neoplasms, Prostate cancer, Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas BRD4 tissue","url":"https://www.proteinatlas.org/ENSG00000141867-BRD4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000141867 associations","url":"https://platform.opentargets.org/target/ENSG00000141867/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13575","ensembl":"ENSG00000141867","uniprot":"O60885","entrez":"23476","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Weber, 1997.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/O60885/entry","biology":"The ZEN-3694 record describes BET inhibitors as blocking the bromodomain proteins that switch on growth genes such as MYC, with objective but short-lived responses in early NUT carcinoma trials of molibresib and birabresib; the epigenetic-reprogramming pathway record lists BET proteins among the chromatin readers hijacked in cancer.","whereFound":["NUT carcinoma (BRD4-NUT fusion)","Primary myelofibrosis (pelabresib)","Castration-resistant prostate cancer and triple-negative breast cancer (ZEN-3694 trials)"],"targetClass":"transcription","prevalence":[]},{"id":"brd7","kind":"target","name":"BRD7","aka":["bromodomain containing 7","Bromodomain-containing protein 7","CELTIX1","BP75","SMARCI1"],"tldr":"BRD7 (Bromodomain-containing protein 7) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma and Melanoma.","summary":"Acts both as coactivator and as corepressor. May play a role in chromatin remodeling. Activator of the Wnt signalling pathway in a DVL1-dependent manner by negatively regulating the GSK3B phosphotransferase activity.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.73). IntOGen calls it a driver in 4 cohorts (0 activating, 4 loss-of-function), covering Hepatocellular Carcinoma, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14310","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14310"},{"label":"UniProt Q9NPI1","url":"https://www.uniprot.org/uniprotkb/Q9NPI1/entry"},{"label":"NCBI Gene 29117","url":"https://www.ncbi.nlm.nih.gov/gene/29117"},{"label":"Ensembl ENSG00000166164","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166164"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BRD7","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14310","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14310","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NPI1","url":"https://www.uniprot.org/uniprotkb/Q9NPI1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000166164","url":"https://platform.opentargets.org/target/ENSG00000166164/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: hepatocellular carcinoma 0.51 (GraphQL API, CC0)"},{"label":"IntOGen BRD7","url":"https://www.intogen.org/search?gene=BRD7","note":"driver in 4 cohorts (Act 0, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14310","ensembl":"ENSG00000166164","uniprot":"Q9NPI1","entrez":"29117","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yu et al, 1999.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9NPI1/entry","biology":"Acts both as coactivator and as corepressor. May play a role in chromatin remodeling. Activator of the Wnt signalling pathway in a DVL1-dependent manner by negatively regulating the GSK3B phosphotransferase activity. Induces dephosphorylation of GSK3B at 'Tyr-216'. Down-regulates TRIM24-mediated activation of transcriptional activation by AR. Transcriptional corepressor that down-regulates the expression of target genes. Location: Nucleus; Chromosome (UniProt). Locus 16q12.1 (HGNC).","whereFound":["Hepatocellular carcinoma: Open Targets association 0.51 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 3 cohorts (HCC)","Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"brip1","kind":"target","name":"BRIP1","aka":["BRCA1 interacting DNA helicase 1","Fanconi anemia group J protein","BACH1","FANCJ"],"tldr":"BRIP1 (Fanconi anaemia group J protein) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Gastric & gastro-oesophageal junction cancer and 3 more.","summary":"DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anaemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Olaparib. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.84, affected pathway 0.87, literature 0.97, genetic association 0.89, somatic mutation 0.87, animal model 0.54).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20473","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20473"},{"label":"UniProt Q9BX63","url":"https://www.uniprot.org/uniprotkb/Q9BX63/entry"},{"label":"NCBI Gene 83990","url":"https://www.ncbi.nlm.nih.gov/gene/83990"},{"label":"Ensembl ENSG00000136492","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136492"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","ovarian","gastric","prostate","skin-cancer","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BRIP1","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:20473","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20473","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BX63","url":"https://www.uniprot.org/uniprotkb/Q9BX63/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BRIP1","url":"https://civicdb.org/features/15955","note":"1 evidence items, 0 assertions, 1 variants; diseases: Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000136492","url":"https://platform.opentargets.org/target/ENSG00000136492/associations","note":"association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: colorectal cancer 0.51, gastric cancer 0.64, ovarian cancer 0.79, skin cancer 0.52, breast cancer 0.82 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Breast cancer (BC) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA BRIP1: RNA tissue enhanced (bone marrow 3 nTPM, lymphoid tissue 3 nTPM); high antibody staining in 23 normal tissues; highest cancer staining melanoma (7 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Gastric & gastro-oesophageal junction cancer, Prostate cancer, Skin cancer (all types), Colorectal cancer); Open Targets associates it with 9 specific cancer types at or above 0.5 (familial ovarian cancer, breast cancer, hereditary breast carcinoma, ovarian cancer, hereditary neoplastic syndrome, hereditary breast ovarian cancer syndrome and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9BX63","url":"https://www.uniprot.org/uniprotkb/Q9BX63/entry","note":"involvement in disease"},{"label":"Human Protein Atlas BRIP1 tissue","url":"https://www.proteinatlas.org/ENSG00000136492-BRIP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136492 associations","url":"https://platform.opentargets.org/target/ENSG00000136492/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20473","ensembl":"ENSG00000136492","uniprot":"Q9BX63","entrez":"83990","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cantor S.B. et al, Cell, 2001, \"BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11301010/","biology":"DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anaemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. Involved in the repair of abasic sites at replication forks by promoting the degradation of DNA-protein cross-links: acts by catalysing unfolding of HMCES DNA-protein cross-link via its helicase activity, exposing the underlying DNA and enabling cleavage of the DNA-protein adduct by the SPRTN metalloprotease. Can unwind RNA:DNA substrates. Unwinds G-quadruplex DNA; unwinding requires a 5'-single stranded tail. Location: Nucleus; Cytoplasm (UniProt). Locus 17q23.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.82 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.79 with ovarian cancer (MONDO_0008170)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.64 with gastric cancer (MONDO_0001056)","Prostate cancer: CIViC evidence names this disease","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)"],"targetClass":"enzyme","prevalence":[]},{"id":"btc","kind":"target","name":"BTC","aka":["betacellulin","Probetacellulin"],"tldr":"BTC (Probetacellulin) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.48, affected pathway 0.95, genetic association 0.35).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1121","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1121"},{"label":"UniProt P35070","url":"https://www.uniprot.org/uniprotkb/P35070/entry"},{"label":"NCBI Gene 685","url":"https://www.ncbi.nlm.nih.gov/gene/685"},{"label":"Ensembl ENSG00000174808","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000174808"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["herizon-btc-302","nct03478488","nct07111546","nct07229625"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BTC","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1121","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1121","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35070","url":"https://www.uniprot.org/uniprotkb/P35070/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000174808","url":"https://platform.opentargets.org/target/ENSG00000174808/associations","note":"association with cancer (MONDO_0004992) 0.65;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1121","ensembl":"ENSG00000174808","uniprot":"P35070","entrez":"685","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sasada et al, Biochem. Biophys. Res. Commun, 1993, \"Cloning and expression of cDNA encoding human betacellulin, a new member of the EGF family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8439318/","biology":"Growth factor that binds to EGFR, ERBB4 and other EGF receptor family members. Potent mitogen for retinal pigment epithelial cells and vascular smooth muscle cells. Location: Secreted, extracellular space; Cell membrane (UniProt). Locus 4q13.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"btg1","kind":"target","name":"BTG1","aka":["BTG anti-proliferation factor 1","APRO2"],"tldr":"BTG1 (BTG anti-proliferation factor 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Multiple myeloma, Diffuse large B-cell lymphoma and 1 more.","summary":"Anti-proliferative protein.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.96, animal model 0.47, genetic association 0.28, somatic mutation 0.79). IntOGen calls it a driver in 6 cohorts (3 activating, 3 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Non-Hodgkin Lymphoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1130","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1130"},{"label":"UniProt P62324","url":"https://www.uniprot.org/uniprotkb/P62324/entry"},{"label":"NCBI Gene 694","url":"https://www.ncbi.nlm.nih.gov/gene/694"},{"label":"Ensembl ENSG00000133639","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000133639"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma","dlbcl","cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BTG1","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1130","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1130","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62324","url":"https://www.uniprot.org/uniprotkb/P62324/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BTG1","url":"https://civicdb.org/features/638","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000133639","url":"https://platform.opentargets.org/target/ENSG00000133639/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.63, non-Hodgkin lymphoma 0.67 (GraphQL API, CC0)"},{"label":"IntOGen BTG1","url":"https://www.intogen.org/search?gene=BTG1","note":"driver in 6 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BTG1: RNA tissue enhanced (bone marrow 89 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma, Leukaemia); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P62324","url":"https://www.uniprot.org/uniprotkb/P62324/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BTG1","url":"https://civicdb.org/features/638","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen BTG1","url":"https://www.intogen.org/search?gene=BTG1","note":"driver in 6 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BTG1 tissue","url":"https://www.proteinatlas.org/ENSG00000133639-BTG1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000133639 associations","url":"https://platform.opentargets.org/target/ENSG00000133639/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1130","ensembl":"ENSG00000133639","uniprot":"P62324","entrez":"694","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rouault J.-P. et al, EMBO J, 1992, \"BTG1, a member of a new family of antiproliferative genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1373383/","biology":"Anti-proliferative protein. Locus 12q21.33 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.67 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (NHL)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Diffuse large B-cell lymphoma: Open Targets association 0.63 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"btg2","kind":"target","name":"BTG2","aka":["BTG anti-proliferation factor 2","PC3","TIS21","MGC126063","MGC126064","APRO1"],"tldr":"BTG2 (BTG anti-proliferation factor 2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Diffuse large B-cell lymphoma and Chronic lymphocytic leukaemia.","summary":"Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Activates mRNA deadenylation in a CNOT6 and CNOT7-dependent manner. In vitro can inhibit deadenylase activity of CNOT7 and CNOT8.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 6 cohorts (4 activating, 2 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1131","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1131"},{"label":"UniProt P78543","url":"https://www.uniprot.org/uniprotkb/P78543/entry"},{"label":"NCBI Gene 7832","url":"https://www.ncbi.nlm.nih.gov/gene/7832"},{"label":"Ensembl ENSG00000159388","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159388"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["non-hodgkin-lymphoma","dlbcl","cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BTG2","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1131","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1131","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78543","url":"https://www.uniprot.org/uniprotkb/P78543/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BTG2","url":"https://civicdb.org/features/6317","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen BTG2","url":"https://www.intogen.org/search?gene=BTG2","note":"driver in 6 cohorts (Act 4, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BTG2: RNA low tissue specificity; no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P78543","url":"https://www.uniprot.org/uniprotkb/P78543/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BTG2","url":"https://civicdb.org/features/6317","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen BTG2","url":"https://www.intogen.org/search?gene=BTG2","note":"driver in 6 cohorts (Act 4, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas BTG2 tissue","url":"https://www.proteinatlas.org/ENSG00000159388-BTG2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000159388 associations","url":"https://platform.opentargets.org/target/ENSG00000159388/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1131","ensembl":"ENSG00000159388","uniprot":"P78543","entrez":"7832","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rouault J.-P. et al, Nat. Genet, 1996, \"Identification of BTG2, an antiproliferative p53-dependent component of the DNA damage cellular response pathway\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8944033/","biology":"Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex. Activates mRNA deadenylation in a CNOT6 and CNOT7-dependent manner. In vitro can inhibit deadenylase activity of CNOT7 and CNOT8. Involved in cell cycle regulation. Could be involved in the growth arrest and differentiation of the neuronal precursors. Modulates transcription regulation mediated by ESR1. Locus 1q32.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 2 cohorts (MLYM, NHL)","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 3 cohorts (DLBCLNOS)","Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)"],"targetClass":"transcription","prevalence":[]},{"id":"btk","kind":"target","name":"BTK (Bruton tyrosine kinase)","aka":[],"tldr":"The signalling enzyme that B-cell cancers use to survive. Blocking it turned chronic lymphocytic leukaemia into a disease controlled by a daily pill.","summary":"BTK sits downstream of the B-cell receptor. Covalent inhibitors (ibrutinib 2014, acalabrutinib, zanubrutinib) bind C481; resistance via C481S mutations is overcome by the non-covalent inhibitor pirtobrutinib (full approval December 2025) and, in phase 3, by BTK degraders (BGB-16673 vs pirtobrutinib in CaDAnCe-304). Standard in CLL, mantle cell lymphoma, Waldenström, and marginal zone lymphoma. Next-generation BTK inhibitors reduced the atrial fibrillation and bleeding seen with ibrutinib.","asOf":"2026-09-07","wikipedia":"https://en.wikipedia.org/wiki/Bruton%27s_tyrosine_kinase","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Bruton%27s_tyrosine_kinase"},{"label":"Davis et al., Nature 2010: chronic active B-cell receptor signalling in diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/nature08638"}],"tags":["kinase"],"related":[],"cancers":["cll","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["ibrutinib","acalabrutinib","zanubrutinib","pirtobrutinib","bgb-16673","nemtabrutinib","bexobrutideg"],"companies":[],"institutions":[],"pathways":["pi3k-akt-mtor","bcr-signalling","inflammation-nfkb"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma, Chronic active B-cell receptor signalling, and BTK: The B-cell receptor normally signals only when it meets antigen. In activated B-cell-like lymphoma it signals continuously: the receptors cluster in the membrane and diffuse slowly, exactly as they do in an antigen-stimulated normal B cell, and knocking down IgM, Ig-kappa, CD79A, CD79B or BTK kills the cell. The signal runs CD79a/b to SYK to BTK to PLC-gamma-2 to protein kinase C beta to the CARD11-BCL10-MALT1 complex and into NF-kB. Mutations of the ITAM module of CD79B raise surface receptor expression and blunt LYN, the feedback brake (Davis 2010). Frequency: Mutations of the first ITAM tyrosine of CD79B in 18% of activated B-cell-like cases, frequent in that subtype and rare in other diffuse large B-cell lymphomas, absent from Burkitt and MALT lymphoma; activating CARD11 mutations in roughly 10% of activated B-cell-like cases (Davis 2010). What it changes about treatment: This is the one pathway in lymphoma where the biology picks the drug today. BTK inhibitors are standard in mantle cell lymphoma and Waldenstrom macroglobulinaemia and have activity in primary CNS lymphoma and in the MCD genetic subtype of diffuse large B-cell lymphoma; they do little in germinal-centre disease."],"symbol":"BTK","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal granulocytes and bone marrow cells and lymphoid tissue cells: HPA finds the gene tissue enhanced in bone marrow, lymphoid tissue, and the 8 medicines aimed at it (Ibrutinib, Acalabrutinib, Zanubrutinib and more) act on the wild-type protein, so the normal lineage is hit too. HPA BTK: RNA tissue enhanced (bone marrow 24 nTPM, lymphoid tissue 63 nTPM); blood lineage lineage enriched (granulocytes 515 nTPM); high antibody staining in 7 normal tissues; highest cancer staining lymphoma (10 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 5 specific cancer types at or above 0.5 (B-cell chronic lymphocytic leukemia, mantle cell lymphoma, Waldenstrom macroglobulinemia, non-Hodgkin lymphoma, diffuse large B-cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas BTK tissue","url":"https://www.proteinatlas.org/ENSG00000010671-BTK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas BTK pathology","url":"https://www.proteinatlas.org/ENSG00000010671-BTK/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000010671 associations","url":"https://platform.opentargets.org/target/ENSG00000010671/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1133","ensembl":"ENSG00000010671","uniprot":"Q06187","entrez":"695","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vetrie et al, Nature, 1993, \"The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8380905/","biology":"TEC-family cytoplasmic tyrosine kinase; phosphorylates PLCγ2 after BCR engagement. Resistance mutations: C481S/R/F (covalent), T474I and L528W (non-covalent, also confer cross-resistance).","whereFound":["CLL/SLL","Mantle cell lymphoma","Waldenström macroglobulinaemia","Marginal zone lymphoma"],"targetClass":"kinase","prevalence":[{"cancerId":"cll","pct":100,"measure":"pathway dependence (BCR signalling), not a mutation","note":"Target is wild-type; resistance mutations arise on treatment"}]},{"id":"btla","kind":"target","name":"BTLA","aka":["B and T lymphocyte associated","CD272","BTLA1"],"tldr":"BTLA is a brake on T and B cells that is pressed by HVEM, a molecule many tumours carry. An antibody that blocks it is being tested with PD-1 blockade in small-cell lung cancer.","summary":"BTLA (chromosome 3q13.2) is an inhibitory receptor on lymphocytes that negatively regulates antigen-receptor signalling through the phosphatases SHP-1 and SHP-2, and can interact with TNFRSF14 (HVEM) in cis on the same cell or in trans on other cells; in cis it appears to restrain trans interactions in naive T cells (UniProt Q7Z6A9). Its partner HVEM binds four distinct ligands, LIGHT, lymphotoxin-alpha, BTLA and CD160, forming a network of stimulatory and inhibitory signals (UniProt Q92956). Tifcemalimab, an anti-BTLA antibody, is in a phase 3 consolidation study with toripalimab in limited-stage small-cell lung cancer (ClinicalTrials.gov NCT06095583).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:21087","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21087"},{"label":"UniProt Q7Z6A9","url":"https://www.uniprot.org/uniprotkb/Q7Z6A9/entry"},{"label":"NCBI Gene 151888","url":"https://www.ncbi.nlm.nih.gov/gene/151888"},{"label":"ClinicalTrials.gov NCT06095583","url":"https://clinicaltrials.gov/study/NCT06095583"}],"tags":["checkpoint-map"],"related":["tnfrsf14","toripalimab","pd1"],"cancers":["sclc"],"sections":[],"technologies":["checkpoint-inhibitor"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["pd1-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"BTLA","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:21087","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21087","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt Q7Z6A9","url":"https://www.uniprot.org/uniprotkb/Q7Z6A9/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:21087","ensembl":"ENSG00000186265","uniprot":"Q7Z6A9","entrez":"151888","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Watanabe et al, Nat. Immunol, 2003, \"BTLA is a lymphocyte inhibitory receptor with similarities to CTLA-4 and PD-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12796776/","biology":"An immunoglobulin-superfamily receptor with ITIM motifs; the HVEM interaction is the only established ligand pair.","whereFound":["Lymphocytes (UniProt Q7Z6A9)","Small-cell lung cancer trials of tifcemalimab with toripalimab (NCT06095583)"],"targetClass":"checkpoint","prevalence":[]},{"id":"bub1","kind":"target","name":"BUB1","aka":["BUB1 mitotic checkpoint serine/threonine kinase","hBUB1","BUB1L"],"tldr":"BUB1 is one of the kinases that stops a dividing cell pulling its chromosomes apart before every one is attached. Inhibitors exist in the laboratory; none has reached patients.","summary":"BUB1 (chromosome 2q13) is a serine/threonine kinase essential for spindle-assembly-checkpoint signalling and correct chromosome alignment: it assembles checkpoint proteins at the kinetochore, being required for the localisation of CENPF, BUB1B, CENPE and MAD2L1 and of PLK1, and for centromeric enrichment of cohesion factors. Expression is high in testis and thymus, lower in colon, spleen, lung and small intestine, and associated with tissues of high mitotic index (UniProt O43683). A ClinicalTrials.gov search for the tool inhibitor BAY 1816032 returned no studies.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:1148","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1148"},{"label":"UniProt O43683","url":"https://www.uniprot.org/uniprotkb/O43683/entry"},{"label":"NCBI Gene 699","url":"https://www.ncbi.nlm.nih.gov/gene/699"}],"tags":["checkpoint-map"],"related":["ttk","aurkb","plk1"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["mitotic-spindle-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"BUB1","role":[],"sources":[{"label":"HGNC HGNC:1148","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1148","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt O43683","url":"https://www.uniprot.org/uniprotkb/O43683/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:1148","ensembl":"ENSG00000169679","uniprot":"O43683","entrez":"699","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pangilinan et al, Genomics, 1997, \"Mammalian BUB1 protein kinases: map positions and in vivo expression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9441741/","biology":"A kinetochore kinase of the spindle assembly checkpoint, alongside MPS1 (TTK) and BUB1B.","whereFound":["Tissues with a high mitotic index (UniProt O43683)"],"targetClass":"kinase","prevalence":[]},{"id":"bub1b","kind":"target","name":"BUB1B","aka":["BUB1 mitotic checkpoint serine/threonine kinase B","Mitotic checkpoint serine/threonine-protein kinase BUB1 beta","BUBR1","MAD3L","Bub1A","SSK1"],"tldr":"BUB1B (Mitotic checkpoint serine/threonine-protein kinase BUB1 beta) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer, Skin cancer, Breast cancer and 3 more.","summary":"Kinase which is a component of the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation until all chromosomes are properly attached to the mitotic spindle. The MCC, which consists of CDC20, MAD2L1/MAD2, BUB1B/BUBR1 and BUB3, is a key player of the spindle assembly checkpoint. The MCC-bound APC/C complex is inactive and this delays the metaphase/anaphase transition.\n\nOpen Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes genetic literature 0.68, literature 0.98, genetic association 0.55, somatic mutation 0.89, animal model 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1149","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1149"},{"label":"UniProt O60566","url":"https://www.uniprot.org/uniprotkb/O60566/entry"},{"label":"NCBI Gene 701","url":"https://www.ncbi.nlm.nih.gov/gene/701"},{"label":"Ensembl ENSG00000156970","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156970"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","skin-cancer","breast-cancer","ovarian","gastric","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["mitotic-spindle-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BUB1B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1149","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1149","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60566","url":"https://www.uniprot.org/uniprotkb/O60566/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000156970","url":"https://platform.opentargets.org/target/ENSG00000156970/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.57, gastric cancer 0.50, ovarian cancer 0.51, melanoma 0.52, skin cancer 0.55, breast cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1149","ensembl":"ENSG00000156970","uniprot":"O60566","entrez":"701","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Donadelli et al, Biochem. Biophys. Res. Commun, 1998, \"Identification of a novel gene -- SSK1 -- in human endothelial cells exposed to shear stress\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9618306/","biology":"Kinase which is a component of the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation until all chromosomes are properly attached to the mitotic spindle. The MCC, which consists of CDC20, MAD2L1/MAD2, BUB1B/BUBR1 and BUB3, is a key player of the spindle assembly checkpoint. The MCC-bound APC/C complex is inactive and this delays the metaphase/anaphase transition. When the spindle assembly checkpoint is silenced, the MCC-APC/C complex recruits the E2 enzyme UBCH10 and triggers the auto-ubiquitination of CDC20 in the MCC, thereby reactivating APC/C for transition into anaphase. MCC also monitors kinetochore activities that depend on the kinetochore motor CENPE. Required for kinetochore localisation of CENPE. Location: Cytoplasm; Nucleus; Chromosome, centromere, kinetochore; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 15q15.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.57 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.50 with gastric cancer (MONDO_0001056)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"kinase","prevalence":[]},{"id":"c11orf65","kind":"target","name":"C11orf65","aka":["chromosome 11 open reading frame 65","MGC33948"],"tldr":"C11orf65 (chromosome 11 open reading frame 65) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer, Colorectal cancer, Ovarian cancer and 4 more.","summary":"Acts as an inhibitor of mitochondrial fission. Interacts with MFF and prevents DNM1L recruitment to mitochondria, promoting a more fused mitochondrial network.\n\nOpen Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.07, genetic association 0.91, somatic mutation 0.87).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28519","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28519"},{"label":"UniProt Q8NCR3","url":"https://www.uniprot.org/uniprotkb/Q8NCR3/entry"},{"label":"NCBI Gene 160140","url":"https://www.ncbi.nlm.nih.gov/gene/160140"},{"label":"Ensembl ENSG00000166323","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166323"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","colorectal","ovarian","prostate","non-hodgkin-lymphoma","gastric","urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"C11orf65","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:28519","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28519","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NCR3","url":"https://www.uniprot.org/uniprotkb/Q8NCR3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000166323","url":"https://platform.opentargets.org/target/ENSG00000166323/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.62, gastric cancer 0.54, prostate cancer 0.54, urinary bladder cancer 0.53, ovarian cancer 0.55, non-Hodgkin lymphoma 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:28519","ensembl":"ENSG00000166323","uniprot":"Q8NCR3","entrez":"160140","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Acts as an inhibitor of mitochondrial fission. Interacts with MFF and prevents DNM1L recruitment to mitochondria, promoting a more fused mitochondrial network. Location: Cytoplasm, cytosol; Mitochondrion outer membrane (UniProt). Locus 11q22.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.62 with colorectal cancer (MONDO_0005575)","Ovarian cancer: Open Targets association 0.55 with ovarian cancer (MONDO_0008170)","Prostate cancer: Open Targets association 0.54 with prostate cancer (MONDO_0008315)","Non-Hodgkin lymphoma: Open Targets association 0.54 with non-Hodgkin lymphoma (MONDO_0018908)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.54 with gastric cancer (MONDO_0001056)"],"targetClass":"other","prevalence":[]},{"id":"cacna1d","kind":"target","name":"CACNA1D","aka":["calcium voltage-gated channel subunit alpha1 D","Voltage-dependent L-type calcium channel subunit alpha-1D","Cav1.3","CACH3","CACN4","CCHL1A2","CACNL1A2"],"tldr":"CACNA1D (Voltage-dependent L-type calcium channel subunit alpha-1D) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a tumour suppressor, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Skin cancer, Gastric & gastro-oesophageal junction cancer and 5 more.","summary":"Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes clinical 0.62, literature 0.66, genetic association 0.00, somatic mutation 0.83, animal model 0.39). IntOGen calls it a driver in 5 cohorts (3 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Hepatocellular Carcinoma, Sarcoma, NOS, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1391","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1391"},{"label":"UniProt Q01668","url":"https://www.uniprot.org/uniprotkb/Q01668/entry"},{"label":"NCBI Gene 776","url":"https://www.ncbi.nlm.nih.gov/gene/776"},{"label":"Ensembl ENSG00000157388","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000157388"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","gastric","rcc","hcc","sarcoma","lung-cancer","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.62; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CACNA1D","role":["drug-target","oncogene-driver","tumour-suppressor"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1391","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1391","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01668","url":"https://www.uniprot.org/uniprotkb/Q01668/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000157388","url":"https://platform.opentargets.org/target/ENSG00000157388/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.52, gastric cancer 0.53, prostate cancer 0.52, melanoma 0.52, skin cancer 0.57, breast cancer 0.62 (GraphQL API, CC0)"},{"label":"IntOGen CACNA1D","url":"https://www.intogen.org/search?gene=CACNA1D","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CACNA1D: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 4 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (6 of 10 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Skin cancer (all types), Gastric & gastro-oesophageal junction cancer, Renal cell carcinoma, Hepatocellular carcinoma, Sarcomas (soft tissue, bone, GIST), Lung cancer (all types) and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q01668","url":"https://www.uniprot.org/uniprotkb/Q01668/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CACNA1D","url":"https://www.intogen.org/search?gene=CACNA1D","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CACNA1D tissue","url":"https://www.proteinatlas.org/ENSG00000157388-CACNA1D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157388 associations","url":"https://platform.opentargets.org/target/ENSG00000157388/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1391","ensembl":"ENSG00000157388","uniprot":"Q01668","entrez":"776","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Williams M.E. et al, Neuron, 1992, \"Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1309651/","biology":"Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Location: Membrane (UniProt). Locus 3p21.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.62 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.53 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Sarcomas: IntOGen driver in 1 cohort (SARCNOS)"],"targetClass":"oncogene","prevalence":[]},{"id":"cacna1g","kind":"target","name":"CACNA1G","aka":["calcium voltage-gated channel subunit alpha1 G","Voltage-dependent T-type calcium channel subunit alpha-1G","Cav3.1","NBR13"],"tldr":"CACNA1G (Voltage-dependent T-type calcium channel subunit alpha-1G) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by mibefradil.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.60, animal model 0.52, genetic association 0.00, clinical 0.87).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1394","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1394"},{"label":"UniProt O43497","url":"https://www.uniprot.org/uniprotkb/O43497/entry"},{"label":"NCBI Gene 8913","url":"https://www.ncbi.nlm.nih.gov/gene/8913"},{"label":"Ensembl ENSG00000006283","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000006283"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.87. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CACNA1G","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1394","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1394","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43497","url":"https://www.uniprot.org/uniprotkb/O43497/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000006283","url":"https://platform.opentargets.org/target/ENSG00000006283/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CACNA1G: RNA tissue enhanced (brain 19 nTPM, cervix 8 nTPM, retina 8 nTPM); no normal tissue stained high; highest cancer staining head and neck cancer (2 of 4 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CACNA1G tissue","url":"https://www.proteinatlas.org/ENSG00000006283-CACNA1G/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000006283 associations","url":"https://platform.opentargets.org/target/ENSG00000006283/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1394","ensembl":"ENSG00000006283","uniprot":"O43497","entrez":"8913","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Perez-Reyes et al, Nature, 1998, \"Molecular characterization of a neuronal low-voltage-activated T-type calcium channel\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9495342/","biology":"Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1G gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by mibefradil. A particularity of this type of channel is an opening at quite negative potentials and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signalling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Location: Cell membrane; Cytoplasm (UniProt). Locus 17q21.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"cacna1h","kind":"target","name":"CACNA1H","aka":["calcium voltage-gated channel subunit alpha1 H","Voltage-dependent T-type calcium channel subunit alpha-1H","Cav3.2"],"tldr":"CACNA1H (Voltage-dependent T-type calcium channel subunit alpha-1H) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes clinical 0.87, literature 0.88, genetic association 0.00, somatic mutation 0.18, animal model 0.57).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1395","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1395"},{"label":"UniProt O95180","url":"https://www.uniprot.org/uniprotkb/O95180/entry"},{"label":"NCBI Gene 8912","url":"https://www.ncbi.nlm.nih.gov/gene/8912"},{"label":"Ensembl ENSG00000196557","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196557"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.87. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CACNA1H","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1395","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1395","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95180","url":"https://www.uniprot.org/uniprotkb/O95180/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196557","url":"https://platform.opentargets.org/target/ENSG00000196557/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CACNA1H: RNA tissue enhanced (intestine 103 nTPM); high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CACNA1H tissue","url":"https://www.proteinatlas.org/ENSG00000196557-CACNA1H/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000196557 associations","url":"https://platform.opentargets.org/target/ENSG00000196557/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1395","ensembl":"ENSG00000196557","uniprot":"O95180","entrez":"8912","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cribbs L.L. et al, Circ. Res, 1998, \"Cloning and characterization of alpha1H from human heart, a member of the T-type Ca2+ channel gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9670923/","biology":"Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signalling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons. In the adrenal zona glomerulosa, participates in the signalling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia. Location: Cell membrane (UniProt). Locus 16p13.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"cacna1i","kind":"target","name":"CACNA1I","aka":["calcium voltage-gated channel subunit alpha1 I","Voltage-dependent T-type calcium channel subunit alpha-1I","Cav3.3"],"tldr":"CACNA1I (Voltage-dependent T-type calcium channel subunit alpha-1I) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.20, genetic association 0.04, clinical 0.87).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1396","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1396"},{"label":"UniProt Q9P0X4","url":"https://www.uniprot.org/uniprotkb/Q9P0X4/entry"},{"label":"NCBI Gene 8911","url":"https://www.ncbi.nlm.nih.gov/gene/8911"},{"label":"Ensembl ENSG00000100346","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100346"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.87. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CACNA1I","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1396","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1396","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9P0X4","url":"https://www.uniprot.org/uniprotkb/Q9P0X4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100346","url":"https://platform.opentargets.org/target/ENSG00000100346/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CACNA1I: RNA tissue enhanced (brain 10 nTPM, thyroid gland 5 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CACNA1I tissue","url":"https://www.proteinatlas.org/ENSG00000100346-CACNA1I/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100346 associations","url":"https://platform.opentargets.org/target/ENSG00000100346/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1396","ensembl":"ENSG00000100346","uniprot":"Q9P0X4","entrez":"8911","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mittman et al, Neurosci. Lett, 1999, \"Structure and alternative splicing of the gene encoding alpha1I, a human brain T calcium channel alpha1 subunit\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10454147/","biology":"Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This channel gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group and are strongly blocked by nickel and mibefradil. A particularity of this type of channels is an opening at quite negative potentials, and a voltage-dependent inactivation. T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signalling in secretory cells and vascular smooth muscle. They may also be involved in the modulation of firing patterns of neurons which is important for information processing as well as in cell growth processes. Location: Membrane (UniProt). Locus 22q13.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"cadm2","kind":"target","name":"CADM2","aka":["cell adhesion molecule 2","Cell adhesion molecule 2","NECL3","Necl-3","SynCAM2","SynCAM-2","IGSF4D"],"tldr":"CADM2 (Cell adhesion molecule 2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Melanoma.","summary":"Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organisation, providing regulated trans-synaptic adhesion. Preferentially binds to oligodendrocytes.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29849","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29849"},{"label":"UniProt Q8N3J6","url":"https://www.uniprot.org/uniprotkb/Q8N3J6/entry"},{"label":"NCBI Gene 253559","url":"https://www.ncbi.nlm.nih.gov/gene/253559"},{"label":"Ensembl ENSG00000175161","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175161"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CADM2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:29849","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29849","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8N3J6","url":"https://www.uniprot.org/uniprotkb/Q8N3J6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CADM2","url":"https://www.intogen.org/search?gene=CADM2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:29849","ensembl":"ENSG00000175161","uniprot":"Q8N3J6","entrez":"253559","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gingrich J.R. et al, 2002.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8N3J6/entry","biology":"Adhesion molecule that engages in homo- and heterophilic interactions with the other nectin-like family members, leading to cell aggregation. Important for synapse organisation, providing regulated trans-synaptic adhesion. Preferentially binds to oligodendrocytes. Interacts with measles hemagglutinin to trigger hyperfusogenic F-mediated membrane fusion and presumably transsynaptic cell-to-cell transmission of the virus. Location: Cell membrane; Synapse; Cell projection, axon (UniProt). Locus 3p12.1 (HGNC).","whereFound":["Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"oncogene","prevalence":[]},{"id":"calr","kind":"target","name":"CALR","aka":["calreticulin","Calreticulin","cC1qR","FLJ26680","CALR1"],"tldr":"CALR (Calreticulin) is a gene. The public catalogues list it as a drug target, a biomarker and a fusion partner, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms, Essential thrombocythaemia and Primary myelofibrosis.","summary":"Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesised in the ER. Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export.\n\nCIViC holds 8 clinical evidence items and 0 assertions across 2 variants, naming Peginterferon Alfa-2a. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.82, somatic mutation 0.87, genetic literature 0.30). In OnCo, 1 product record names it (Ruxolitinib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1455","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1455"},{"label":"UniProt P27797","url":"https://www.uniprot.org/uniprotkb/P27797/entry"},{"label":"NCBI Gene 811","url":"https://www.ncbi.nlm.nih.gov/gene/811"},{"label":"Ensembl ENSG00000179218","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000179218"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["myeloproliferative-neoplasms","essential-thrombocythaemia","primary-myelofibrosis"],"sections":[],"technologies":[],"targets":[],"drugs":["ruxolitinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 8 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myelofibrosis."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CALR","role":["drug-target","biomarker","fusion-partner"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1455","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1455","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P27797","url":"https://www.uniprot.org/uniprotkb/P27797/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CALR","url":"https://civicdb.org/features/732","note":"8 evidence items, 0 assertions, 2 variants; diseases: Myelofibrosis, Essential Thrombocythemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000179218","url":"https://platform.opentargets.org/target/ENSG00000179218/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: myeloproliferative neoplasm 0.73, primary myelofibrosis 0.56 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Ruxolitinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA CALR: RNA low tissue specificity; high antibody staining in 29 normal tissues; highest cancer staining endometrial cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms); Open Targets associates it with 2 specific cancer types at or above 0.5 (myeloproliferative disorder, primary myelofibrosis); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CALR tissue","url":"https://www.proteinatlas.org/ENSG00000179218-CALR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000179218 associations","url":"https://platform.opentargets.org/target/ENSG00000179218/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1455","ensembl":"ENSG00000179218","uniprot":"P27797","entrez":"811","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lieu T.-S. et al, J. Clin. Invest, 1988, \"Molecular characterization of human Ro/SS-A antigen. Amino terminal sequence of the protein moiety of human Ro/SS-A antigen and immunological activity of a corresponding synthetic peptide\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3260607/","biology":"Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesised in the ER. Interacts with the DNA-binding domain of NR3C1 and mediates its nuclear export. Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis. Present in the cortical granules of non-activated oocytes, is exocytosed during the cortical reaction in response to oocyte activation and might participate in the block to polyspermy. Location: Endoplasmic reticulum lumen; Cytoplasm, cytosol; Secreted, extracellular space, extracellular matrix; Cell surface (UniProt). Locus 19p13.13 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.73 with myeloproliferative neoplasm (MONDO_0020076)","Essential thrombocythaemia: CIViC evidence names this disease","Primary myelofibrosis: Open Targets association 0.56 with primary myelofibrosis (MONDO_0009692)"],"targetClass":"other","prevalence":[]},{"id":"camta1","kind":"target","name":"CAMTA1","aka":["calmodulin binding transcription activator 1","Calmodulin-binding transcription activator 1","KIAA0833"],"tldr":"CAMTA1 (Calmodulin-binding transcription activator 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas, Prostate cancer, Breast cancer and 3 more.","summary":"Transcriptional activator.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.00, somatic mutation 0.84). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Leiomyosarcoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18806"},{"label":"UniProt Q9Y6Y1","url":"https://www.uniprot.org/uniprotkb/Q9Y6Y1/entry"},{"label":"NCBI Gene 23261","url":"https://www.ncbi.nlm.nih.gov/gene/23261"},{"label":"Ensembl ENSG00000171735","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171735"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["sarcoma","prostate","breast-cancer","skin-cancer","lung-cancer","leiomyosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CAMTA1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18806","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6Y1","url":"https://www.uniprot.org/uniprotkb/Q9Y6Y1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171735","url":"https://platform.opentargets.org/target/ENSG00000171735/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: skin cancer 0.52, breast cancer 0.55, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen CAMTA1","url":"https://www.intogen.org/search?gene=CAMTA1","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18806","ensembl":"ENSG00000171735","uniprot":"Q9Y6Y1","entrez":"23261","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10048485/","biology":"Transcriptional activator. Location: Nucleus; Cytoplasm (UniProt). Locus 1p36.31-p36.23 (HGNC).","whereFound":["Sarcomas: IntOGen driver in 1 cohort (LMS)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Leiomyosarcoma: IntOGen driver in 1 cohort (LMS)"],"targetClass":"oncogene","prevalence":[]},{"id":"cnr1","kind":"target","name":"Cannabinoid receptor 1","aka":[],"tldr":"The CB1 cannabinoid receptor is how dronabinol and nabilone, synthetic cannabinoids approved for chemotherapy nausea that other drugs fail to control, act on the brain; their place is behind the 5-HT3 and NK1 antagonists.","summary":"Cannabinoid receptor 1 is the brain receptor for THC and for the body's own endocannabinoids. Dronabinol (synthetic THC) and nabilone are approved for nausea and vomiting from chemotherapy in patients who have not responded to conventional antiemetics, and dronabinol also for appetite loss in AIDS; guidelines place them as later options after 5-HT3 antagonists, NK1 antagonists, dexamethasone and olanzapine because of dizziness, sedation and mood effects. Claims that cannabinoids shrink tumours rest on laboratory and small early studies, and no cannabinoid is approved to treat cancer itself.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Cannabinoid_receptor_1","links":[{"label":"UniProt P21554: CNR1","url":"https://www.uniprot.org/uniprotkb/P21554/entry"},{"label":"HGNC:2159 CNR1","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2159"},{"label":"ChEMBL target CHEMBL218","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL218"}],"tags":["chembl-gap"],"related":["htr3a","tacr1"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["dronabinol","nabilone"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CNR1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"not-established","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enriched in cancer (Glioblastoma Multiforme (TCGA)) and tissue enhanced in normal adipose tissue, brain, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA CNR1: RNA tissue enhanced (adipose tissue 18 nTPM, brain 19 nTPM); high antibody staining in 6 normal tissues; highest cancer staining thyroid cancer (2 of 4 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CNR1 tissue","url":"https://www.proteinatlas.org/ENSG00000118432-CNR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CNR1 pathology","url":"https://www.proteinatlas.org/ENSG00000118432-CNR1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118432 associations","url":"https://platform.opentargets.org/target/ENSG00000118432/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2159","ensembl":"ENSG00000118432","uniprot":"P21554","entrez":"1268","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gerard et al, Nucleic Acids Res, 1990, \"Nucleotide sequence of a human cannabinoid receptor cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2263478/","biology":"A Gi-coupled G-protein-coupled receptor, among the most abundant in the brain, that reduces neurotransmitter release from presynaptic terminals; also present in gut, fat and liver.","whereFound":["Brain, including the emetic circuitry of the brainstem","Peripheral tissues and some tumour cells"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"host","measure":"Host target: brain cannabinoid receptor. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"cant1","kind":"target","name":"CANT1","aka":["calcium activated nucleotidase 1","Soluble calcium-activated nucleotidase 1","SHAPY","SCAN-1"],"tldr":"CANT1 (Soluble calcium-activated nucleotidase 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Oesophageal cancer and Oesophageal and junctional adenocarcinoma.","summary":"Calcium-dependent nucleotidase with a preference for ribonucleosides diphosphate UDP, GDP and IDP, while having very low activity towards ADP and CDP. In vitro, it can also act with low or negligible efficiency on ribonucletides triphosphate UTP, GTP, ITP, ATP and CTP. Does not hydrolyse AMP and GMP.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19721","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19721"},{"label":"UniProt Q8WVQ1","url":"https://www.uniprot.org/uniprotkb/Q8WVQ1/entry"},{"label":"NCBI Gene 124583","url":"https://www.ncbi.nlm.nih.gov/gene/124583"},{"label":"Ensembl ENSG00000171302","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171302"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["esophageal","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CANT1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:19721","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19721","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WVQ1","url":"https://www.uniprot.org/uniprotkb/Q8WVQ1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CANT1","url":"https://www.intogen.org/search?gene=CANT1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:19721","ensembl":"ENSG00000171302","uniprot":"Q8WVQ1","entrez":"124583","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Smith et al, Arch. Biochem. Biophys, 2002, \"Cloning, expression, and characterization of a soluble calcium-activated nucleotidase, a human enzyme belonging to a new family of extracellular nucleotidases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12234496/","biology":"Calcium-dependent nucleotidase with a preference for ribonucleosides diphosphate UDP, GDP and IDP, while having very low activity towards ADP and CDP. In vitro, it can also act with low or negligible efficiency on ribonucletides triphosphate UTP, GTP, ITP, ATP and CTP. Does not hydrolyse AMP and GMP. Involved in proteoglycan synthesis. Location: Endoplasmic reticulum membrane; Golgi apparatus, Golgi stack membrane; Cell membrane (UniProt). Locus 17q25.3 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"oncogene","prevalence":[]},{"id":"card11","kind":"target","name":"CARD11","aka":["caspase recruitment domain family member 11","Caspase recruitment domain-containing protein 11","CARMA1","BIMP3"],"tldr":"CARD11 (Caspase recruitment domain-containing protein 11) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Hepatocellular carcinoma, Skin cancer and 5 more.","summary":"Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement. Transduces signals downstream TCR or BCR activation via the formation of a multiprotein complex together with BCL10 and MALT1 that induces NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways. Upon activation in response to TCR or BCR triggering, CARD11 homooligomerises to form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerisation of BCL10 and subsequent recruitment of MALT1: this leads to I-kappa-B kinase (IKK) phosphorylation and degradation, and release of NF-kappa-B proteins for nuclear translocation.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.84, animal model 0.54, genetic association 0.00, somatic mutation 0.87). IntOGen calls it a driver in 11 cohorts (9 activating, 2 loss-of-function), covering Burkitt Lymphoma, Colorectal Adenocarcinoma, Diffuse Large B-Cell Lymphoma, NOS, Hepatocellular Carcinoma, Malignant Lymphoma, Non-Hodgkin Lymphoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16393","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16393"},{"label":"UniProt Q9BXL7","url":"https://www.uniprot.org/uniprotkb/Q9BXL7/entry"},{"label":"NCBI Gene 84433","url":"https://www.ncbi.nlm.nih.gov/gene/84433"},{"label":"Ensembl ENSG00000198286","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198286"},{"label":"Davis et al., Nature 2010: chronic active B-cell receptor signalling in diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/nature08638"},{"label":"Kataoka et al., Nat Genet 2015: integrated molecular analysis of 426 adult T-cell leukaemia/lymphoma cases","url":"https://doi.org/10.1038/ng.3415"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","hcc","skin-cancer","colorectal","ovarian","leukaemia","lung-cancer","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","inflammation-nfkb","oncogenic-viruses"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 9 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, Chronic active B-cell receptor signalling, and BTK: The B-cell receptor normally signals only when it meets antigen. In activated B-cell-like lymphoma it signals continuously: the receptors cluster in the membrane and diffuse slowly, exactly as they do in an antigen-stimulated normal B cell, and knocking down IgM, Ig-kappa, CD79A, CD79B or BTK kills the cell. The signal runs CD79a/b to SYK to BTK to PLC-gamma-2 to protein kinase C beta to the CARD11-BCL10-MALT1 complex and into NF-kB. Mutations of the ITAM module of CD79B raise surface receptor expression and blunt LYN, the feedback brake (Davis 2010). Frequency: Mutations of the first ITAM tyrosine of CD79B in 18% of activated B-cell-like cases, frequent in that subtype and rare in other diffuse large B-cell lymphomas, absent from Burkitt and MALT lymphoma; activating CARD11 mutations in roughly 10% of activated B-cell-like cases (Davis 2010). What it changes about treatment: This is the one pathway in lymphoma where the biology picks the drug today. BTK inhibitors are standard in mantle cell lymphoma and Waldenstrom macroglobulinaemia and have activity in primary CNS lymphoma and in the MCD genetic subtype of diffuse large B-cell lymphoma; they do little in germinal-centre disease.","Lymphoma, HTLV-1, Tax and HBZ: Human T-lymphotropic virus 1 integrates into the genome of a CD4 T cell and expresses Tax, which switches on NF-kB and interferes with the DNA-damage response and the spindle checkpoint, and HBZ, encoded on the opposite strand, which is retained when Tax expression is switched off under immune pressure. The host genome then acquires the rest of the lesions, and they are not random: the alterations found across 426 cases overlap significantly with the proteins Tax itself binds, and are concentrated in T-cell receptor and NF-kB signalling, T-cell trafficking and immune surveillance, with activating mutations in PLCG1, PRKCB, CARD11, VAV1, IRF4, FYN, CCR4 and CCR7, CTLA4-CD28 and ICOS-CD28 fusions, and intragenic deletions of IKZF2, CARD11 and TP73 (Kataoka 2015). Frequency: Across 426 adult T-cell leukaemia/lymphoma cases analysed by whole-genome, exome, transcriptome and targeted sequencing with copy-number and methylation arrays (Kataoka 2015). Most people infected with HTLV-1 never develop the disease, and the latency between infection, usually in infancy through breastfeeding, and the leukaemia is measured in decades. What it changes about treatment: The CCR4 finding is the practical one: CCR4 is both frequently expressed and frequently mutated, and mogamulizumab is used in this disease. The virus itself is not a drug target, and antiretroviral treatment does not cure the leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CARD11","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16393","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16393","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BXL7","url":"https://www.uniprot.org/uniprotkb/Q9BXL7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CARD11","url":"https://civicdb.org/features/16180","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000198286","url":"https://platform.opentargets.org/target/ENSG00000198286/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: colorectal cancer 0.55, gastric cancer 0.51, melanoma 0.54, diffuse large B-cell lymphoma 0.63, non-Hodgkin lymphoma 0.70, skin cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen CARD11","url":"https://www.intogen.org/search?gene=CARD11","note":"driver in 11 cohorts (Act 9, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CARD11: RNA tissue enhanced (intestine 17 nTPM, lymphoid tissue 38 nTPM); no normal tissue stained high; highest cancer staining lymphoma (1 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Hepatocellular carcinoma, Skin cancer (all types), Colorectal cancer, Ovarian cancer, Leukaemia, Lung cancer (all types) and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9BXL7","url":"https://www.uniprot.org/uniprotkb/Q9BXL7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CARD11","url":"https://civicdb.org/features/16180","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen CARD11","url":"https://www.intogen.org/search?gene=CARD11","note":"driver in 11 cohorts (Act 9, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CARD11 tissue","url":"https://www.proteinatlas.org/ENSG00000198286-CARD11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198286 associations","url":"https://platform.opentargets.org/target/ENSG00000198286/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16393","ensembl":"ENSG00000198286","uniprot":"Q9BXL7","entrez":"84433","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bertin et al, J. Biol. Chem, 2001, \"CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with Bcl10 and activate NF-kappaB\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11278692/","biology":"Adapter protein that plays a key role in adaptive immune response by transducing the activation of NF-kappa-B downstream of T-cell receptor (TCR) and B-cell receptor (BCR) engagement. Transduces signals downstream TCR or BCR activation via the formation of a multiprotein complex together with BCL10 and MALT1 that induces NF-kappa-B and MAP kinase p38 (MAPK11, MAPK12, MAPK13 and/or MAPK14) pathways. Upon activation in response to TCR or BCR triggering, CARD11 homooligomerises to form a nucleating helical template that recruits BCL10 via CARD-CARD interaction, thereby promoting polymerisation of BCL10 and subsequent recruitment of MALT1: this leads to I-kappa-B kinase (IKK) phosphorylation and degradation, and release of NF-kappa-B proteins for nuclear translocation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Promotes linear ubiquitination of BCL10 by promoting the targeting of BCL10 to RNF31/HOIP. Stimulates the phosphorylation of BCL10. Location: Cytoplasm; Membrane raft (UniProt). Locus 7p22.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.70 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Hepatocellular carcinoma: IntOGen driver in 2 cohorts (HCC)","Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Leukaemia: Open Targets association 0.53 with leukaemia (MONDO_0005059)"],"targetClass":"oncogene","prevalence":[]},{"id":"cars1","kind":"target","name":"CARS1","aka":["cysteinyl-tRNA synthetase 1","Cysteine--tRNA ligase, cytoplasmic"],"tldr":"CARS1 (Cysteine--tRNA ligase, cytoplasmic) is an enzyme. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Skin cancer, Lung cancer and Melanoma.","summary":"Catalyses the ATP-dependent ligation of cysteine to tRNA(Cys).\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.54, affected pathway 0.76, genetic association 0.00, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1493","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1493"},{"label":"UniProt P49589","url":"https://www.uniprot.org/uniprotkb/P49589/entry"},{"label":"NCBI Gene 833","url":"https://www.ncbi.nlm.nih.gov/gene/833"},{"label":"Ensembl ENSG00000110619","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110619"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","lung-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CARS1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1493","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1493","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49589","url":"https://www.uniprot.org/uniprotkb/P49589/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000110619","url":"https://platform.opentargets.org/target/ENSG00000110619/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: melanoma 0.50, skin cancer 0.54, lung cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1493","ensembl":"ENSG00000110619","uniprot":"P49589","entrez":"833","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cruzen M.E. et al, DNA Seq, 1994, \"Nucleotide and deduced amino acid sequence of human cysteinyl-tRNA synthetase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7987009/","biology":"Catalyses the ATP-dependent ligation of cysteine to tRNA(Cys). Location: Cytoplasm (UniProt). Locus 11p15.4 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.50 with lung cancer (MONDO_0008903)","Melanoma: Open Targets association 0.50 with melanoma (MONDO_0005105)"],"targetClass":"enzyme","prevalence":[]},{"id":"casp10","kind":"target","name":"CASP10","aka":["caspase 10","Caspase-10","MCH4","FLICE-2"],"tldr":"CASP10 (Caspase-10) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Gastric & gastro-oesophageal junction cancer and Non-Hodgkin lymphoma.","summary":"Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.74, genetic association 0.52, somatic mutation 0.68, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1500","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1500"},{"label":"UniProt Q92851","url":"https://www.uniprot.org/uniprotkb/Q92851/entry"},{"label":"NCBI Gene 843","url":"https://www.ncbi.nlm.nih.gov/gene/843"},{"label":"Ensembl ENSG00000003400","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000003400"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["gastric","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CASP10","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1500","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1500","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92851","url":"https://www.uniprot.org/uniprotkb/Q92851/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000003400","url":"https://platform.opentargets.org/target/ENSG00000003400/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: gastric cancer 0.56, non-Hodgkin lymphoma 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1500","ensembl":"ENSG00000003400","uniprot":"Q92851","entrez":"843","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fernandes-Alnemri et al, Proc. Natl. Acad. Sci. U.S.A, 1996, \"In vitro activation of CPP32 and Mch3 by Mch4, a novel human apoptotic cysteine protease containing two FADD-like domains\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8755496/","biology":"Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP8 and CASP9. Hydrolyses the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC. Isoform 7 can enhance NF-kappaB activity but promotes only slight apoptosis. Locus 2q33.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.56 with gastric cancer (MONDO_0001056)","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)"],"targetClass":"enzyme","prevalence":[]},{"id":"casp8","kind":"target","name":"CASP8","aka":["caspase 8","Caspase-8","MCH5","FLICE","Casp-8"],"tldr":"CASP8 (Caspase-8) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Head and neck squamous cell carcinoma, Skin cancer, Cervical cancer and 5 more.","summary":"Thiol protease that plays a key role in programmed cell death by acting as a molecular switch for apoptosis, necroptosis and pyroptosis, and is required to prevent tissue damage during embryonic development and adulthood. Initiator protease that induces extrinsic apoptosis by mediating cleavage and activation of effector caspases responsible for FAS/CD95-mediated and TNFRSF1A-induced cell death. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP9 and CASP10.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Conatumumab. Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes literature 0.99, animal model 0.49, genetic association 0.70, somatic mutation 0.93). IntOGen calls it a driver in 17 cohorts (2 activating, 15 loss-of-function), covering Basal Cell Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cervical Adenocarcinoma, Cervical Squamous Cell Carcinoma, Cutaneous Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1509"},{"label":"UniProt Q14790","url":"https://www.uniprot.org/uniprotkb/Q14790/entry"},{"label":"NCBI Gene 841","url":"https://www.ncbi.nlm.nih.gov/gene/841"},{"label":"Ensembl ENSG00000064012","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000064012"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["head-and-neck","skin-cancer","cervical","breast-cancer","nasopharyngeal","urothelial","non-hodgkin-lymphoma","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 15 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Ewing Sarcoma Of Bone."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CASP8","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1509","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14790","url":"https://www.uniprot.org/uniprotkb/Q14790/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CASP8","url":"https://civicdb.org/features/761","note":"2 evidence items, 0 assertions, 2 variants; diseases: Neuroblastoma, Ewing Sarcoma Of Bone (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000064012","url":"https://platform.opentargets.org/target/ENSG00000064012/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.55, ovarian cancer 0.56, melanoma 0.57, head and neck squamous cell carcinoma 0.66, skin cancer 0.63, basal cell carcinoma 0.52 (GraphQL API, CC0)"},{"label":"IntOGen CASP8","url":"https://www.intogen.org/search?gene=CASP8","note":"driver in 17 cohorts (Act 2, LoF 15); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CASP8: RNA tissue enhanced (bone marrow 44 nTPM); high antibody staining in 17 normal tissues; highest cancer staining pancreatic cancer (10 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma, Skin cancer (all types), Cervical cancer, Breast cancer (all types), Nasopharyngeal carcinoma, Bladder & urothelial cancer, Lymphoma and more); Open Targets associates it with 2 specific cancer types at or above 0.5 (autoimmune lymphoproliferative syndrome type 2B, head and neck squamous cell carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q14790","url":"https://www.uniprot.org/uniprotkb/Q14790/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CASP8","url":"https://civicdb.org/features/761","note":"2 evidence items, 0 assertions, 2 variants; diseases: Neuroblastoma, Ewing Sarcoma Of Bone (GraphQL API, CC0)"},{"label":"IntOGen CASP8","url":"https://www.intogen.org/search?gene=CASP8","note":"driver in 17 cohorts (Act 2, LoF 15); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CASP8 tissue","url":"https://www.proteinatlas.org/ENSG00000064012-CASP8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000064012 associations","url":"https://platform.opentargets.org/target/ENSG00000064012/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1509","ensembl":"ENSG00000064012","uniprot":"Q14790","entrez":"841","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Boldin M.P. et al, Cell, 1996, \"Involvement of MACH, a novel MORT1/FADD-interacting protease, in Fas/APO-1- and TNF receptor-induced cell death\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8681376/","biology":"Thiol protease that plays a key role in programmed cell death by acting as a molecular switch for apoptosis, necroptosis and pyroptosis, and is required to prevent tissue damage during embryonic development and adulthood. Initiator protease that induces extrinsic apoptosis by mediating cleavage and activation of effector caspases responsible for FAS/CD95-mediated and TNFRSF1A-induced cell death. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP9 and CASP10. Binding to the adapter molecule FADD recruits it to either receptor FAS/TNFRSF6 or TNFRSF1A. The resulting aggregate called the death-inducing signalling complex (DISC) performs CASP8 proteolytic activation. The active dimeric enzyme is then liberated from the DISC and free to activate downstream apoptotic proteases. Location: Cytoplasm; Nucleus; Cell projection, lamellipodium (UniProt). Locus 2q33.1 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: Open Targets association 0.66 with head and neck squamous cell carcinoma (MONDO_0010150); IntOGen driver in 4 cohorts (HNSC)","Skin cancer: Open Targets association 0.63 with skin cancer (MONDO_0002898)","Cervical cancer: IntOGen driver in 3 cohorts (CEAD, CESC)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Nasopharyngeal carcinoma: IntOGen driver in 2 cohorts (NPC)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"enzyme","prevalence":[]},{"id":"casr","kind":"target","name":"CASR","aka":["calcium sensing receptor","Extracellular calcium-sensing receptor","NSHPT","GPRC2A","HHC1"],"tldr":"CASR (Extracellular calcium-sensing receptor) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"G protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis. Senses fluctuations in the circulating calcium concentration: activated by elevated circulating calcium, leading to decreased parathyroid hormone (PTH) secretion in parathyroid glands. In kidneys, acts as a key regulator of renal tubular calcium resorption.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes clinical 0.91, literature 0.98, genetic association 0.00, somatic mutation 0.23, animal model 0.59).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1514","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1514"},{"label":"UniProt P41180","url":"https://www.uniprot.org/uniprotkb/P41180/entry"},{"label":"NCBI Gene 846","url":"https://www.ncbi.nlm.nih.gov/gene/846"},{"label":"Ensembl ENSG00000036828","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000036828"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.91. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CASR","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1514","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1514","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P41180","url":"https://www.uniprot.org/uniprotkb/P41180/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000036828","url":"https://platform.opentargets.org/target/ENSG00000036828/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CASR: RNA tissue enriched (parathyroid gland 616 nTPM); high antibody staining in 3 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 2 specific cancer types at or above 0.5 (neonatal severe primary hyperparathyroidism, parathyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CASR tissue","url":"https://www.proteinatlas.org/ENSG00000036828-CASR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000036828 associations","url":"https://platform.opentargets.org/target/ENSG00000036828/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1514","ensembl":"ENSG00000036828","uniprot":"P41180","entrez":"846","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Garrett J.E. et al, J. Biol. Chem, 1995, \"Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7759551/","biology":"G protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis. Senses fluctuations in the circulating calcium concentration: activated by elevated circulating calcium, leading to decreased parathyroid hormone (PTH) secretion in parathyroid glands. In kidneys, acts as a key regulator of renal tubular calcium resorption. Ligand binding causes a conformation change that triggers signalling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors. CASR is coupled with different G(q)/G(11), G(i)/G(o)- or G(s)-classes of G proteins depending on the context. In the parathyroid and kidney, CASR signals through G(q)/G(11) and G(i)/G(o) G proteins: G(q)/G(11) coupling activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers, while G(i)/G(o) coupling mediates inhibition of adenylate cyclase activity. Location: Cell membrane (UniProt). Locus 3q13.33-q21.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"casz1","kind":"target","name":"CASZ1","aka":["castor zinc finger 1","Zinc finger protein castor homolog 1","FLJ20321","ZNF693","castor","cst"],"tldr":"CASZ1 (Zinc finger protein castor homolog 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer.","summary":"Transcriptional activator. Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26002","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26002"},{"label":"UniProt Q86V15","url":"https://www.uniprot.org/uniprotkb/Q86V15/entry"},{"label":"NCBI Gene 54897","url":"https://www.ncbi.nlm.nih.gov/gene/54897"},{"label":"Ensembl ENSG00000130940","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130940"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CASZ1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:26002","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26002","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86V15","url":"https://www.uniprot.org/uniprotkb/Q86V15/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CASZ1","url":"https://www.intogen.org/search?gene=CASZ1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:26002","ensembl":"ENSG00000130940","uniprot":"Q86V15","entrez":"54897","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Transcriptional activator. Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7. Location: Nucleus (UniProt). Locus 1p36.22 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"cbfa2t3","kind":"target","name":"CBFA2T3","aka":["CBFA2/RUNX1 partner transcriptional co-repressor 3","Transcriptional corepressor CBFA2T3","MTGR2","ZMYND4","MTG16","RUNX1T3","ETO2"],"tldr":"CBFA2T3 (Transcriptional corepressor CBFA2T3) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Breast cancer, Lung cancer and 2 more.","summary":"Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.85, animal model 0.49, genetic association 0.52, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1537","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1537"},{"label":"UniProt O75081","url":"https://www.uniprot.org/uniprotkb/O75081/entry"},{"label":"NCBI Gene 863","url":"https://www.ncbi.nlm.nih.gov/gene/863"},{"label":"Ensembl ENSG00000129993","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129993"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","breast-cancer","lung-cancer","skin-cancer","myeloproliferative-neoplasms"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CBFA2T3","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1537","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1537","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75081","url":"https://www.uniprot.org/uniprotkb/O75081/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000129993","url":"https://platform.opentargets.org/target/ENSG00000129993/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: skin cancer 0.51, myeloproliferative neoplasm 0.50, breast cancer 0.52, lung cancer 0.52, leukaemia 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1537","ensembl":"ENSG00000129993","uniprot":"O75081","entrez":"863","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gamou et al, Blood, 1998, \"The partner gene of AML1 in t(16;21) myeloid malignancies is a novel member of the MTG8(ETO) family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9596646/","biology":"Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway. Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A. Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes. Plays a role in granulocyte differentiation. Location: Nucleus; Nucleus, nucleolus; Nucleus, nucleoplasm; Golgi apparatus membrane (UniProt). Locus 16q24.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Myeloproliferative neoplasms: Open Targets association 0.50 with myeloproliferative neoplasm (MONDO_0020076)"],"targetClass":"transcription","prevalence":[]},{"id":"cbfb","kind":"target","name":"CBFB","aka":["core-binding factor subunit beta","Core-binding factor subunit beta","PEBP2B"],"tldr":"CBFB (Core-binding factor subunit beta) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer.","summary":"Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes affected pathway 0.25, literature 0.98, genetic association 0.19, somatic mutation 0.94, animal model 0.56). IntOGen calls it a driver in 5 cohorts (2 activating, 3 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539"},{"label":"UniProt Q13951","url":"https://www.uniprot.org/uniprotkb/Q13951/entry"},{"label":"NCBI Gene 865","url":"https://www.ncbi.nlm.nih.gov/gene/865"},{"label":"Ensembl ENSG00000067955","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000067955"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CBFB","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13951","url":"https://www.uniprot.org/uniprotkb/Q13951/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000067955","url":"https://platform.opentargets.org/target/ENSG00000067955/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: breast cancer 0.70 (GraphQL API, CC0)"},{"label":"IntOGen CBFB","url":"https://www.intogen.org/search?gene=CBFB","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1539","ensembl":"ENSG00000067955","uniprot":"Q13951","entrez":"865","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Liu et al, Science, 1993, \"Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8351518/","biology":"Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. The complex can also ubiquitinate APOBEC3H to some extent. Location: Nucleus (UniProt). Locus 16q22.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.70 with breast cancer (MONDO_0007254); IntOGen driver in 5 cohorts (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"cbl","kind":"target","name":"CBL","aka":["Cbl proto-oncogene","E3 ubiquitin-protein ligase CBL","RNF55","c-Cbl","CBL2"],"tldr":"CBL (E3 ubiquitin-protein ligase CBL) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Skin cancer and 5 more.","summary":"E3 ubiquitin-protein ligase that acts as a negative regulator of many signalling pathways by mediating ubiquitination of cell surface receptors. Accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognises activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, CSF1R, EPHA8 and KDR and mediates their ubiquitination to terminate signalling.\n\nCIViC holds 8 clinical evidence items and 0 assertions across 9 variants, naming SU11274. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.81, literature 0.98, genetic association 0.81, somatic mutation 0.90, animal model 0.61). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Acute Lymphoblastic Leukaemia, Acute Myeloid Leukaemia, Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1541","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1541"},{"label":"UniProt P22681","url":"https://www.uniprot.org/uniprotkb/P22681/entry"},{"label":"NCBI Gene 867","url":"https://www.ncbi.nlm.nih.gov/gene/867"},{"label":"Ensembl ENSG00000110395","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110395"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","skin-cancer","esophageal","ovarian","sarcoma","aml","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["rtk-activation"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 8 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Juvenile Myelomonocytic Leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CBL","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1541","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1541","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P22681","url":"https://www.uniprot.org/uniprotkb/P22681/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CBL","url":"https://civicdb.org/features/778","note":"8 evidence items, 0 assertions, 9 variants; diseases: Lung Non-small Cell Carcinoma, Acute Myeloid Leukaemia, Juvenile Myelomonocytic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000110395","url":"https://platform.opentargets.org/target/ENSG00000110395/associations","note":"association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: ovarian cancer 0.56, melanoma 0.58, sarcoma 0.52, acute myeloid leukaemia 0.59, skin cancer 0.58, myeloproliferative neoplasm 0.81 (GraphQL API, CC0)"},{"label":"IntOGen CBL","url":"https://www.intogen.org/search?gene=CBL","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CBL: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining lymphoma (6 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Skin cancer (all types), Oesophageal cancer, Ovarian cancer, Sarcomas (soft tissue, bone, GIST), Lung cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (CBL-related disorder, juvenile myelomonocytic leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P22681","url":"https://www.uniprot.org/uniprotkb/P22681/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CBL","url":"https://civicdb.org/features/778","note":"8 evidence items, 0 assertions, 9 variants; diseases: Lung Non-small Cell Carcinoma, Acute Myeloid Leukaemia, Juvenile Myelomonocytic Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen CBL","url":"https://www.intogen.org/search?gene=CBL","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CBL tissue","url":"https://www.proteinatlas.org/ENSG00000110395-CBL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000110395 associations","url":"https://platform.opentargets.org/target/ENSG00000110395/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1541","ensembl":"ENSG00000110395","uniprot":"P22681","entrez":"867","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Blake T.J. et al, Oncogene, 1991, \"The sequences of the human and mouse c-cbl proto-oncogenes show v-cbl was generated by a large truncation encompassing a proline-rich domain and a leucine zipper-like motif\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2030914/","biology":"E3 ubiquitin-protein ligase that acts as a negative regulator of many signalling pathways by mediating ubiquitination of cell surface receptors. Accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognises activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, CSF1R, EPHA8 and KDR and mediates their ubiquitination to terminate signalling. Recognises membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Ubiquitinates EGFR and SPRY2. Involved in LAG3-mediated inhibition of TCR signalling: following ligand-binding to LAG3, catalyses 'Lys-63'-linked ubiquitination of LAG3, unleashing the LAG3 C-terminus from the membrane, and initiating a signalling that prevents TCR activation. Location: Cytoplasm; Cell membrane; Cell projection, cilium; Golgi apparatus (UniProt). Locus 11q23.3 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.81 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.80 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170)","Sarcomas: Open Targets association 0.52 with sarcoma (MONDO_0005089)"],"targetClass":"enzyme","prevalence":[]},{"id":"cblb","kind":"target","name":"CBLB","aka":["Cbl proto-oncogene B","E3 ubiquitin-protein ligase CBL-B","RNF56","Cbl-b"],"tldr":"CBLB (E3 ubiquitin-protein ligase CBL-B) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Skin cancer, Breast cancer and 2 more.","summary":"E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.36, somatic mutation 0.85). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Lung Adenocarcinoma, Non-Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1542","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1542"},{"label":"UniProt Q13191","url":"https://www.uniprot.org/uniprotkb/Q13191/entry"},{"label":"NCBI Gene 868","url":"https://www.ncbi.nlm.nih.gov/gene/868"},{"label":"Ensembl ENSG00000114423","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114423"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","skin-cancer","breast-cancer","nsclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CBLB","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1542","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1542","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13191","url":"https://www.uniprot.org/uniprotkb/Q13191/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CBLB","url":"https://civicdb.org/features/779","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000114423","url":"https://platform.opentargets.org/target/ENSG00000114423/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: melanoma 0.56, skin cancer 0.56, breast cancer 0.53, lung cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen CBLB","url":"https://www.intogen.org/search?gene=CBLB","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CBLB: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining liver cancer (5 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Skin cancer (all types), Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q13191","url":"https://www.uniprot.org/uniprotkb/Q13191/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CBLB","url":"https://civicdb.org/features/779","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen CBLB","url":"https://www.intogen.org/search?gene=CBLB","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CBLB tissue","url":"https://www.proteinatlas.org/ENSG00000114423-CBLB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000114423 associations","url":"https://platform.opentargets.org/target/ENSG00000114423/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1542","ensembl":"ENSG00000114423","uniprot":"Q13191","entrez":"868","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Keane M.M. et al, Oncogene, 1995, \"Cloning and characterization of cbl-b: a SH3 binding protein with homology to the c-cbl proto-oncogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7784085/","biology":"E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and transfers it to substrates, generally promoting their degradation by the proteasome. Negatively regulates TCR (T-cell receptor), BCR (B-cell receptor) and FCER1 (high affinity immunoglobulin epsilon receptor) signal transduction pathways. In naive T-cells, inhibits VAV1 activation upon TCR engagement and imposes a requirement for CD28 costimulation for proliferation and IL-2 production. Also acts by promoting PIK3R1/p85 ubiquitination, which impairs its recruitment to the TCR and subsequent activation. In activated T-cells, inhibits PLCG1 activation and calcium mobilisation upon restimulation and promotes anergy. Involved in LAG3-mediated inhibition of TCR signalling: following ligand-binding to LAG3, catalyses 'Lys-63'-linked ubiquitination of LAG3, unleashing the LAG3 C-terminus from the membrane, and initiating a signalling that prevents TCR activation. Location: Cytoplasm (UniProt). Locus 3q13.11 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.57 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Non-small-cell lung cancer: CIViC evidence names this disease; IntOGen driver in 2 cohorts (LUAD, NSCLC)","Melanoma: Open Targets association 0.56 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"cblc","kind":"target","name":"CBLC","aka":["Cbl proto-oncogene C","E3 ubiquitin-protein ligase CBL-C","CBL-3","CBL-SL","RNF57"],"tldr":"CBLC (E3 ubiquitin-protein ligase CBL-C) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Olaparib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15961","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15961"},{"label":"UniProt Q9ULV8","url":"https://www.uniprot.org/uniprotkb/Q9ULV8/entry"},{"label":"NCBI Gene 23624","url":"https://www.ncbi.nlm.nih.gov/gene/23624"},{"label":"Ensembl ENSG00000142273","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142273"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CBLC","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:15961","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15961","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9ULV8","url":"https://www.uniprot.org/uniprotkb/Q9ULV8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CBLC","url":"https://civicdb.org/features/9705","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CBLC: RNA tissue enhanced (esophagus 38 nTPM, intestine 48 nTPM, skin 1 41 nTPM); high antibody staining in 3 normal tissues; highest cancer staining renal cancer (7 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CBLC tissue","url":"https://www.proteinatlas.org/ENSG00000142273-CBLC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000142273 associations","url":"https://platform.opentargets.org/target/ENSG00000142273/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:15961","ensembl":"ENSG00000142273","uniprot":"Q9ULV8","entrez":"23624","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kim et al, Gene, 1999, \"Molecular cloning and characterization of a novel cbl-family gene, cbl-c\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10571044/","biology":"Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory checkpoint for Ret signalling by modulating the rate of RET degradation after ligand activation; CD2AP converts it from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival. Locus 19q13.32 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"ccar1","kind":"target","name":"CCAR1","aka":["cell division cycle and apoptosis regulator 1","Cell division cycle and apoptosis regulator protein 1","CARP1","CARP-1","uc.285+","FLJ10590"],"tldr":"CCAR1 (Cell division cycle and apoptosis regulator protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Medulloblastoma.","summary":"Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Medulloblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24236","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24236"},{"label":"UniProt Q8IX12","url":"https://www.uniprot.org/uniprotkb/Q8IX12/entry"},{"label":"NCBI Gene 55749","url":"https://www.ncbi.nlm.nih.gov/gene/55749"},{"label":"Ensembl ENSG00000060339","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000060339"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCAR1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24236","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24236","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IX12","url":"https://www.uniprot.org/uniprotkb/Q8IX12/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CCAR1","url":"https://www.intogen.org/search?gene=CCAR1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:24236","ensembl":"ENSG00000060339","uniprot":"Q8IX12","entrez":"55749","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tian et al, 2002, \"TAZ binding partners identified by mass spectrometry\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8IX12/entry","biology":"Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation. May be involved in apoptosis signalling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Location: Cytoplasm, perinuclear region (UniProt). Locus 10q21.3 (HGNC).","whereFound":["Medulloblastoma: IntOGen driver in 1 cohort (MBL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ccdc170","kind":"target","name":"CCDC170","aka":["coiled-coil domain containing 170","Coiled-coil domain-containing protein 170","FLJ23305","bA282P11.1","C6orf97"],"tldr":"CCDC170 (Coiled-coil domain-containing protein 170) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Plays a role in Golgi-associated microtubules organisation and stabilisation.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21177","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21177"},{"label":"UniProt Q8IYT3","url":"https://www.uniprot.org/uniprotkb/Q8IYT3/entry"},{"label":"NCBI Gene 80129","url":"https://www.ncbi.nlm.nih.gov/gene/80129"},{"label":"Ensembl ENSG00000120262","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000120262"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCDC170","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:21177","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21177","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IYT3","url":"https://www.uniprot.org/uniprotkb/Q8IYT3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000120262","url":"https://platform.opentargets.org/target/ENSG00000120262/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: breast cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:21177","ensembl":"ENSG00000120262","uniprot":"Q8IYT3","entrez":"80129","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mungall A.J. et al, Nature, 2003, \"The DNA sequence and analysis of human chromosome 6\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14574404/","biology":"Plays a role in Golgi-associated microtubules organisation and stabilisation. Location: Golgi apparatus (UniProt). Locus 6q25.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)"],"targetClass":"other","prevalence":[]},{"id":"ccdc6","kind":"target","name":"CCDC6","aka":["coiled-coil domain containing 6","Coiled-coil domain-containing protein 6","H4","PTC1","TST1","D10S170"],"tldr":"CCDC6 (Coiled-coil domain-containing protein 6) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target and a tumour suppressor, and an approved or late-stage drug is recorded against it. Tied to Lung cancer, Thyroid cancer, Neuroendocrine tumours and 2 more.","summary":"Acts as a structural scaffold that organises free PP2Ac into a configuration that FBXO42 can recognise and ubiquitinate, leading to its proteasomal degradation. Also interacts independently with PPP4C through a mechanism distinct from FBXO42-mediated ubiquitination.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes clinical 0.97, literature 0.94, genetic association 0.00, somatic mutation 0.82, animal model 0.38). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Basal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18782","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18782"},{"label":"UniProt Q16204","url":"https://www.uniprot.org/uniprotkb/Q16204/entry"},{"label":"NCBI Gene 8030","url":"https://www.ncbi.nlm.nih.gov/gene/8030"},{"label":"Ensembl ENSG00000108091","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108091"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","thyroid","neuroendocrine","nsclc","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCDC6","role":["drug-target","tumour-suppressor"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:18782","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18782","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16204","url":"https://www.uniprot.org/uniprotkb/Q16204/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108091","url":"https://platform.opentargets.org/target/ENSG00000108091/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.72, thyroid cancer 0.70, neuroendocrine neoplasm 0.63, lung cancer 0.72 (GraphQL API, CC0)"},{"label":"IntOGen CCDC6","url":"https://www.intogen.org/search?gene=CCDC6","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CCDC6: RNA low tissue specificity; high antibody staining in 1 normal tissue. Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Thyroid cancer, Neuroendocrine tumours, Skin cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (non-small cell lung carcinoma, medullary thyroid gland carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q16204","url":"https://www.uniprot.org/uniprotkb/Q16204/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CCDC6","url":"https://www.intogen.org/search?gene=CCDC6","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CCDC6 tissue","url":"https://www.proteinatlas.org/ENSG00000108091-CCDC6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108091 associations","url":"https://platform.opentargets.org/target/ENSG00000108091/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18782","ensembl":"ENSG00000108091","uniprot":"Q16204","entrez":"8030","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Grieco et al, Cell, 1990, \"PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2406025/","biology":"Acts as a structural scaffold that organises free PP2Ac into a configuration that FBXO42 can recognise and ubiquitinate, leading to its proteasomal degradation. Also interacts independently with PPP4C through a mechanism distinct from FBXO42-mediated ubiquitination. Location: Cytoplasm; Cytoplasm, cytoskeleton (UniProt). Locus 10q21.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.72 with lung cancer (MONDO_0008903)","Thyroid cancer: Open Targets association 0.70 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.63 with neuroendocrine neoplasm (MONDO_0019496)","Non-small-cell lung cancer: Open Targets association 0.72 with non-small cell lung carcinoma (MONDO_0005233)","Basal cell carcinoma: IntOGen driver in 1 cohort (BCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ccdc88c","kind":"target","name":"CCDC88C","aka":["coiled-coil and HOOK domain protein 88C","DAPLE","HkRP2","SCA40","KIAA1509"],"tldr":"CCDC88C (coiled-coil and HOOK domain protein 88C) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Required for activation of guanine nucleotide-binding proteins (G proteins) during non-canonical Wnt signalling. Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signalling. Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.70, animal model 0.74, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19967","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19967"},{"label":"UniProt Q9P219","url":"https://www.uniprot.org/uniprotkb/Q9P219/entry"},{"label":"NCBI Gene 440193","url":"https://www.ncbi.nlm.nih.gov/gene/440193"},{"label":"Ensembl ENSG00000015133","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000015133"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCDC88C","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:19967","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19967","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9P219","url":"https://www.uniprot.org/uniprotkb/Q9P219/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000015133","url":"https://platform.opentargets.org/target/ENSG00000015133/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:19967","ensembl":"ENSG00000015133","uniprot":"Q9P219","entrez":"440193","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10819331/","biology":"Required for activation of guanine nucleotide-binding proteins (G proteins) during non-canonical Wnt signalling. Binds to ligand-activated Wnt receptor FZD7, displacing DVL1 from the FZD7 receptor and leading to inhibition of canonical Wnt signalling. Acts as a non-receptor guanine nucleotide exchange factor by also binding to guanine nucleotide-binding protein G(i) alpha (Gi-alpha) subunits, leading to their activation. Binding to Gi-alpha subunits displaces the beta and gamma subunits from the heterotrimeric G protein complex, triggering non-canonical Wnt responses such as activation of RAC1 and PI3K-AKT signalling. Promotes apical constriction of cells via ARHGEF18. Location: Cytoplasm; Cell junction (UniProt). Locus 14q32.11-q32.12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ccn2","kind":"target","name":"CCN2","aka":["cellular communication network factor 2","CCN family member 2","IGFBP8"],"tldr":"CCN2 (CCN family member 2) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Is involved in the stimulation of osteoblast differentiation and has a critical role in osteogenesis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2500","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2500"},{"label":"UniProt P29279","url":"https://www.uniprot.org/uniprotkb/P29279/entry"},{"label":"NCBI Gene 1490","url":"https://www.ncbi.nlm.nih.gov/gene/1490"},{"label":"Ensembl ENSG00000118523","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118523"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Glioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCN2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2500","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2500","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29279","url":"https://www.uniprot.org/uniprotkb/P29279/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCN2","url":"https://civicdb.org/features/1283","note":"1 evidence items, 0 assertions, 1 variants; diseases: Glioma (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CCN2: RNA tissue enhanced (blood vessel 1,230 nTPM); blood lineage lineage enriched (B-cells 8 nTPM); high antibody staining in 3 normal tissues; highest cancer staining endometrial cancer (7 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CCN2 tissue","url":"https://www.proteinatlas.org/ENSG00000118523-CCN2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118523 associations","url":"https://platform.opentargets.org/target/ENSG00000118523/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2500","ensembl":"ENSG00000118523","uniprot":"P29279","entrez":"1490","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bradham D.M. et al, J. Cell Biol, 1991, \"Connective tissue growth factor: a cysteine-rich mitogen secreted by human vascular endothelial cells is related to the SRC-induced immediate early gene product CEF-10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1654338/","biology":"Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes. Is involved in the stimulation of osteoblast differentiation and has a critical role in osteogenesis. Mediates heparin- and divalent cation-dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells. Enhances fibroblast growth factor-induced DNA synthesis. Location: Secreted, extracellular space, extracellular matrix; Secreted (UniProt). Locus 6q23.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ccnb1ip1","kind":"target","name":"CCNB1IP1","aka":["cyclin B1 interacting protein 1","E3 ubiquitin-protein ligase CCNB1IP1","HEI10","C14orf18"],"tldr":"CCNB1IP1 (E3 ubiquitin-protein ligase CCNB1IP1) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer.","summary":"Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalisation of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL-gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.19, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19437","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19437"},{"label":"UniProt Q9NPC3","url":"https://www.uniprot.org/uniprotkb/Q9NPC3/entry"},{"label":"NCBI Gene 57820","url":"https://www.ncbi.nlm.nih.gov/gene/57820"},{"label":"Ensembl ENSG00000100814","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100814"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCNB1IP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:19437","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19437","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NPC3","url":"https://www.uniprot.org/uniprotkb/Q9NPC3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100814","url":"https://platform.opentargets.org/target/ENSG00000100814/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: skin cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:19437","ensembl":"ENSG00000100814","uniprot":"Q9NPC3","entrez":"57820","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Toby G.G. et al, Mol. Cell. Biol, 2003, \"A novel RING finger protein, human enhancer of invasion 10, alters mitotic progression through regulation of cyclin B levels\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12612082/","biology":"Ubiquitin E3 ligase that acts as a limiting factor for crossing-over during meiosis: required during zygonema to limit the colocalisation of RNF212 with MutS-gamma-associated recombination sites and thereby establish early differentiation of crossover and non-crossover sites. Later, it is directed by MutL-gamma to stably accumulate at designated crossover sites. Probably promotes the dissociation of RNF212 and MutS-gamma to allow the progression of recombination and the implementation of the final steps of crossing over. Modulates cyclin-B levels and participates in the regulation of cell cycle progression through the G2 phase. Overexpression causes delayed entry into mitosis. Location: Nucleus; Chromosome (UniProt). Locus 14q11.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)"],"targetClass":"enzyme","prevalence":[]},{"id":"ccnd1","kind":"target","name":"CCND1","aka":["cyclin D1","G1/S-specific cyclin-D1","U21B31","BCL1","D11S287E","PRAD1"],"tldr":"CCND1 (G1/S-specific cyclin-D1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker, a fusion partner and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Skin cancer, Multiple myeloma and 5 more.","summary":"Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase.\n\nCIViC holds 23 clinical evidence items and 0 assertions across 5 variants, naming Palbociclib, Tamoxifen, Ribociclib and Sorafenib and others. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes clinical 0.97, genetic literature 0.61, affected pathway 0.80, literature 1.00, genetic association 0.70, somatic mutation 0.93, animal model 0.56). IntOGen calls it a driver in 4 cohorts (2 activating, 2 loss-of-function), covering Head and Neck Squamous Cell Carcinoma, Plasma Cell Myeloma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1582"},{"label":"UniProt P24385","url":"https://www.uniprot.org/uniprotkb/P24385/entry"},{"label":"NCBI Gene 595","url":"https://www.ncbi.nlm.nih.gov/gene/595"},{"label":"Ensembl ENSG00000110092","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110092"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","multiple-myeloma","ovarian","head-and-neck","rcc","colorectal","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 23 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene; UniProt keyword \"DNA damage\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Childhood B-cell Acute Lymphoblastic Leukaemia; Anaplastic Thyroid Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCND1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1582","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P24385","url":"https://www.uniprot.org/uniprotkb/P24385/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCND1","url":"https://civicdb.org/features/8","note":"23 evidence items, 0 assertions, 5 variants; diseases: Breast Cancer, Lung Non-small Cell Carcinoma, Mantle Cell Lymphoma, Cancer, Ovarian Cancer and 8 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000110092","url":"https://platform.opentargets.org/target/ENSG00000110092/associations","note":"association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: colorectal cancer 0.58, prostate cancer 0.54, endometrial cancer 0.51, melanoma 0.63, plasma cell myeloma 0.53, non-Hodgkin lymphoma 0.57 (GraphQL API, CC0)"},{"label":"IntOGen CCND1","url":"https://www.intogen.org/search?gene=CCND1","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CCND1: RNA low tissue specificity; high antibody staining in 15 normal tissues; highest cancer staining renal cancer (11 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Skin cancer (all types), Multiple myeloma, Ovarian cancer, Head and neck squamous cell carcinoma, Renal cell carcinoma, Colorectal cancer and more); Open Targets associates it with 4 specific cancer types at or above 0.5 (breast cancer, breast carcinoma, prostate carcinoma, plasma cell myeloma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P24385","url":"https://www.uniprot.org/uniprotkb/P24385/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCND1","url":"https://civicdb.org/features/8","note":"23 evidence items, 0 assertions, 5 variants; diseases: Breast Cancer, Lung Non-small Cell Carcinoma, Mantle Cell Lymphoma, Cancer, Ovarian Cancer and 8 more (GraphQL API, CC0)"},{"label":"IntOGen CCND1","url":"https://www.intogen.org/search?gene=CCND1","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CCND1 tissue","url":"https://www.proteinatlas.org/ENSG00000110092-CCND1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000110092 associations","url":"https://platform.opentargets.org/target/ENSG00000110092/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1582","ensembl":"ENSG00000110092","uniprot":"P24385","entrez":"595","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Motokura et al, Nature, 1991, \"A novel cyclin encoded by a bcl1-linked candidate oncogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1826542/","biology":"Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also a substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Location: Nucleus; Cytoplasm; Nucleus membrane (UniProt). Locus 11q13.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.75 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Skin cancer: Open Targets association 0.64 with skin cancer (MONDO_0002898)","Multiple myeloma: Open Targets association 0.53 with plasma cell myeloma (MONDO_0009693); CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease","Head and neck squamous cell carcinoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (HNSC)","Renal cell carcinoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"ccnd2","kind":"target","name":"CCND2","aka":["cyclin D2","G1/S-specific cyclin-D2"],"tldr":"CCND2 (G1/S-specific cyclin-D2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer, Colorectal cancer, Skin cancer and 4 more.","summary":"Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 3 variants, naming Palbociclib. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.69, genetic association 0.60, somatic mutation 0.85). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Acute Myeloid Leukaemia, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1583"},{"label":"UniProt P30279","url":"https://www.uniprot.org/uniprotkb/P30279/entry"},{"label":"NCBI Gene 894","url":"https://www.ncbi.nlm.nih.gov/gene/894"},{"label":"Ensembl ENSG00000118971","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118971"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["gastric","colorectal","skin-cancer","nsclc","cll","aml","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 7 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCND2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1583","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30279","url":"https://www.uniprot.org/uniprotkb/P30279/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCND2","url":"https://civicdb.org/features/9","note":"7 evidence items, 0 assertions, 3 variants; diseases: Stomach Cancer, Lung Squamous Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000118971","url":"https://platform.opentargets.org/target/ENSG00000118971/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.59, melanoma 0.56, skin cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen CCND2","url":"https://www.intogen.org/search?gene=CCND2","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CCND2: RNA tissue enhanced (heart muscle 28 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (2 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Colorectal cancer, Skin cancer (all types), Lung cancer (all types), Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P30279","url":"https://www.uniprot.org/uniprotkb/P30279/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCND2","url":"https://civicdb.org/features/9","note":"7 evidence items, 0 assertions, 3 variants; diseases: Stomach Cancer, Lung Squamous Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"IntOGen CCND2","url":"https://www.intogen.org/search?gene=CCND2","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CCND2 tissue","url":"https://www.proteinatlas.org/ENSG00000118971-CCND2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118971 associations","url":"https://platform.opentargets.org/target/ENSG00000118971/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1583","ensembl":"ENSG00000118971","uniprot":"P30279","entrez":"894","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xiong et al, Genomics, 1992, \"Molecular cloning and chromosomal mapping of CCND genes encoding human D-type cyclins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1386336/","biology":"Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Location: Nucleus; Cytoplasm; Nucleus membrane (UniProt). Locus 12p13.32 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease","Colorectal cancer: Open Targets association 0.59 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Non-small-cell lung cancer: CIViC evidence names this disease","Chronic lymphocytic leukaemia: IntOGen driver in 2 cohorts (CLLSLL)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ccnd3","kind":"target","name":"CCND3","aka":["cyclin D3","G1/S-specific cyclin-D3"],"tldr":"CCND3 (G1/S-specific cyclin-D3) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 4 more.","summary":"Regulatory component of the cyclin D3-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 3 variants, naming Palbociclib. Open Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.93, genetic association 0.00, somatic mutation 0.97, animal model 0.47). IntOGen calls it a driver in 5 cohorts (3 activating, 2 loss-of-function), covering Burkitt Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1585"},{"label":"UniProt P30281","url":"https://www.uniprot.org/uniprotkb/P30281/entry"},{"label":"NCBI Gene 896","url":"https://www.ncbi.nlm.nih.gov/gene/896"},{"label":"Ensembl ENSG00000112576","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112576"},{"label":"Schmitz et al., Nature 2012: Burkitt lymphoma pathogenesis from structural and functional genomics","url":"https://doi.org/10.1038/nature11378"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","breast-cancer","dlbcl","nsclc","burkitt-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","pi3k-akt-mtor","cell-cycle-engine-cdks"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: T-cell Lymphoblastic Leukaemia/lymphoma.","Lymphoma, TCF3, ID3 and CCND3 in Burkitt lymphoma: A MYC translocation alone does not make a Burkitt lymphoma; it needs a partner that supplies survival. In Burkitt the partner is tonic B-cell receptor signalling through TCF3, the transcription factor also known as E2A: mutations either activate TCF3 or inactivate its negative regulator ID3, and TCF3 then switches on the PI3K pathway partly by augmenting tonic receptor signalling. A second, independent lesion drives the cell cycle directly, through CCND3 mutations that produce unusually stable cyclin D3. Frequency: TCF3 or ID3 mutation in 70% of sporadic Burkitt lymphoma cases and oncogenic CCND3 mutations in 38%, in a study combining high-throughput RNA sequencing with RNA interference screening (Schmitz 2012). What it changes about treatment: Not yet, and the gap is uncomfortable, because the regimens that cure Burkitt lymphoma are the most toxic in lymphoma and are the reason the disease is hard to treat in older patients and in low-resource settings, which is exactly where the endemic form occurs."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCND3","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1585","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30281","url":"https://www.uniprot.org/uniprotkb/P30281/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCND3","url":"https://civicdb.org/features/10","note":"5 evidence items, 0 assertions, 3 variants; diseases: T-cell Lymphoblastic Leukaemia/lymphoma, Diffuse Large B-cell Lymphoma, Lung Squamous Cell Carcinoma, Burkitt Lymphoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000112576","url":"https://platform.opentargets.org/target/ENSG00000112576/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.51, diffuse large B-cell lymphoma 0.55, non-Hodgkin lymphoma 0.69, breast cancer 0.53, leukaemia 0.54 (GraphQL API, CC0)"},{"label":"IntOGen CCND3","url":"https://www.intogen.org/search?gene=CCND3","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CCND3: RNA tissue enhanced (lymphoid tissue 239 nTPM); high antibody staining in 6 normal tissues; highest cancer staining carcinoid (2 of 4 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Breast cancer (all types), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P30281","url":"https://www.uniprot.org/uniprotkb/P30281/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCND3","url":"https://civicdb.org/features/10","note":"5 evidence items, 0 assertions, 3 variants; diseases: T-cell Lymphoblastic Leukaemia/lymphoma, Diffuse Large B-cell Lymphoma, Lung Squamous Cell Carcinoma, Burkitt Lymphoma, Cancer (GraphQL API, CC0)"},{"label":"IntOGen CCND3","url":"https://www.intogen.org/search?gene=CCND3","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CCND3 tissue","url":"https://www.proteinatlas.org/ENSG00000112576-CCND3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000112576 associations","url":"https://platform.opentargets.org/target/ENSG00000112576/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1585","ensembl":"ENSG00000112576","uniprot":"P30281","entrez":"896","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xiong et al, Genomics, 1992, \"Molecular cloning and chromosomal mapping of CCND genes encoding human D-type cyclins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1386336/","biology":"Regulatory component of the cyclin D3-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Component of the ternary complex, cyclin D3/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Shows transcriptional coactivator activity with ATF5 independently of CDK4. Location: Nucleus; Cytoplasm (UniProt). Locus 6p21.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.69 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Diffuse large B-cell lymphoma: Open Targets association 0.55 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease","Burkitt lymphoma: CIViC evidence names this disease; IntOGen driver in 2 cohorts (BL)"],"targetClass":"transcription","prevalence":[]},{"id":"ccne1","kind":"target","name":"CCNE1","aka":["cyclin E1","G1/S-specific cyclin-E1"],"tldr":"CCNE1 (G1/S-specific cyclin-E1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer, Breast cancer, Ovarian cancer and 5 more.","summary":"Essential for the control of the cell cycle at the G1/S (start) transition.\n\nCIViC holds 16 clinical evidence items and 0 assertions across 3 variants, naming Palbociclib, Dinaciclib, CDK Inhibitor SNS-032 and Camonsertib and others. Open Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes affected pathway 0.57, literature 0.99, genetic association 0.57, somatic mutation 0.96, animal model 0.64). In OnCo, 1 product record names it (AVZO-021).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1589","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1589"},{"label":"UniProt P24864","url":"https://www.uniprot.org/uniprotkb/P24864/entry"},{"label":"NCBI Gene 898","url":"https://www.ncbi.nlm.nih.gov/gene/898"},{"label":"Ensembl ENSG00000105173","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105173"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["gastric","breast-cancer","ovarian","endometrial","colorectal","urothelial","skin-cancer","breast-hr-positive","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":["avzo-021"],"companies":[],"institutions":[],"pathways":["synthetic-lethality-map"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 10 therapies; CIViC holds 16 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Gastric Adenosquamous Carcinoma; Ovarian Serous Cystadenocarcinoma; Endometrial Serous Adenocarcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCNE1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1589","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1589","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P24864","url":"https://www.uniprot.org/uniprotkb/P24864/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCNE1","url":"https://civicdb.org/features/11","note":"16 evidence items, 0 assertions, 3 variants; diseases: Ovarian Cancer, Breast Cancer, Gastric Adenosquamous Carcinoma, Ovarian Carcinoma, Stomach Cancer and 4 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000105173","url":"https://platform.opentargets.org/target/ENSG00000105173/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.58, gastric cancer 0.51, urinary bladder cancer 0.52, skin cancer 0.50, breast cancer 0.50 (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"many-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal bone marrow, placenta, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA CCNE1: RNA tissue enhanced (bone marrow 34 nTPM, placenta 29 nTPM); high antibody staining in 4 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Gastric & gastro-oesophageal junction cancer, Breast cancer (all types), Ovarian cancer, Endometrial cancer, Colorectal cancer, Bladder & urothelial cancer and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CCNE1 tissue","url":"https://www.proteinatlas.org/ENSG00000105173-CCNE1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CCNE1 pathology","url":"https://www.proteinatlas.org/ENSG00000105173-CCNE1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105173 associations","url":"https://platform.opentargets.org/target/ENSG00000105173/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1589","ensembl":"ENSG00000105173","uniprot":"P24864","entrez":"898","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lew D.J. et al, Cell, 1991, \"Isolation of three novel human cyclins by rescue of G1 cyclin (Cln) function in yeast\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1833066/","biology":"Essential for the control of the cell cycle at the G1/S (start) transition. Location: Nucleus (UniProt). Locus 19q12 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056); CIViC evidence names this disease","Breast cancer: Open Targets association 0.50 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease","Endometrial cancer: CIViC evidence names this disease","Colorectal cancer: Open Targets association 0.58 with colorectal cancer (MONDO_0005575)","Bladder & urothelial cancer: Open Targets association 0.52 with urinary bladder cancer (MONDO_0001187)","Gallbladder cancer: amplification about 9%"],"targetClass":"other","prevalence":[{"cancerId":"gallbladder","pct":9,"measure":"Amplification","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Amplification in 22 of 244 samples, 9.0%, in cBioPortal gbc_mskcc_2022."}]},{"id":"ccne2","kind":"target","name":"CCNE2","aka":["cyclin E2","G1/S-specific cyclin-E2","CYCE2"],"tldr":"CCNE2 (G1/S-specific cyclin-E2) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Essential for the control of the cell cycle at the late G1 and early S phase.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Palbociclib and CDK Inhibitor SNS-032.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1590"},{"label":"UniProt O96020","url":"https://www.uniprot.org/uniprotkb/O96020/entry"},{"label":"NCBI Gene 9134","url":"https://www.ncbi.nlm.nih.gov/gene/9134"},{"label":"Ensembl ENSG00000175305","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175305"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCNE2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1590","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O96020","url":"https://www.uniprot.org/uniprotkb/O96020/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CCNE2","url":"https://civicdb.org/features/7222","note":"2 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CCNE2: RNA tissue enhanced (bone marrow 35 nTPM, brain 17 nTPM); no normal tissue stained high; highest cancer staining carcinoid (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CCNE2 tissue","url":"https://www.proteinatlas.org/ENSG00000175305-CCNE2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000175305 associations","url":"https://platform.opentargets.org/target/ENSG00000175305/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1590","ensembl":"ENSG00000175305","uniprot":"O96020","entrez":"9134","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lauper et al, Oncogene, 1998, \"Cyclin E2: a novel CDK2 partner in the late G1 and S phases of the mammalian cell cycle\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9840927/","biology":"Essential for the control of the cell cycle at the late G1 and early S phase. Location: Nucleus (UniProt). Locus 8q22.1 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ccnh","kind":"target","name":"CCNH","aka":["cyclin H","Cyclin-H","p34","p37","CycH"],"tldr":"CCNH (Cyclin-H) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Component of the CDK-activating kinase (CAK) complex, a master regulator of CDK activity by catalysing the activating threonine phosphorylation of CDKs. Binds and activates cyclin-dependent protein kinase CDK7, the catalytic subunit of CAK. CAK activates major mediators of cell cycle control, including CDK1, CDK2, CDK4 and CDK6, and plays a key role in regulating cell cycle progression.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.35, somatic mutation 0.74).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1594","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1594"},{"label":"UniProt P51946","url":"https://www.uniprot.org/uniprotkb/P51946/entry"},{"label":"NCBI Gene 902","url":"https://www.ncbi.nlm.nih.gov/gene/902"},{"label":"Ensembl ENSG00000134480","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134480"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCNH","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1594","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1594","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51946","url":"https://www.uniprot.org/uniprotkb/P51946/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000134480","url":"https://platform.opentargets.org/target/ENSG00000134480/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1594","ensembl":"ENSG00000134480","uniprot":"P51946","entrez":"902","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Maekelae T.P. et al, Nature, 1994, \"A cyclin associated with the CDK-activating kinase MO15\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8078587/","biology":"Component of the CDK-activating kinase (CAK) complex, a master regulator of CDK activity by catalysing the activating threonine phosphorylation of CDKs. Binds and activates cyclin-dependent protein kinase CDK7, the catalytic subunit of CAK. CAK activates major mediators of cell cycle control, including CDK1, CDK2, CDK4 and CDK6, and plays a key role in regulating cell cycle progression. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle. Location: Nucleus (UniProt). Locus 5q14.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"ccnt1","kind":"target","name":"CCNT1","aka":["cyclin T1","Cyclin-T1","CYCT1","HIVE1"],"tldr":"CCNT1 (Cyclin-T1) is a protein that switches other genes on and off. In the public catalogues it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II). Required to activate the protein kinase activity of CDK9: acts by mediating formation of liquid-liquid phase separation (LLPS) that enhances binding of P-TEFb to the CTD of RNA Pol II. Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1599","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1599"},{"label":"UniProt O60563","url":"https://www.uniprot.org/uniprotkb/O60563/entry"},{"label":"NCBI Gene 904","url":"https://www.ncbi.nlm.nih.gov/gene/904"},{"label":"Ensembl ENSG00000129315","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129315"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCNT1","role":[],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1599","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1599","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60563","url":"https://www.uniprot.org/uniprotkb/O60563/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CCNT1","url":"https://www.intogen.org/search?gene=CCNT1","note":"driver in 1 cohort (Act 0, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1599","ensembl":"ENSG00000129315","uniprot":"O60563","entrez":"904","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wei et al, Cell, 1998, \"A novel CDK9-associated C-type cyclin interacts directly with HIV-1 Tat and mediates its high-affinity, loop-specific binding to TAR RNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9491887/","biology":"Regulatory subunit of the cyclin-dependent kinase pair (CDK9/cyclin-T1) complex, also called positive transcription elongation factor B (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNA Pol II). Required to activate the protein kinase activity of CDK9: acts by mediating formation of liquid-liquid phase separation (LLPS) that enhances binding of P-TEFb to the CTD of RNA Pol II. Serves as an essential cofactor for Tat, by promoting RNA Pol II activation, allowing transcription of viral genes. Location: Nucleus (UniProt). Locus 12q13.11-q13.12 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"transcription","prevalence":[]},{"id":"ccr4","kind":"target","name":"CCR4","aka":[],"tldr":"CCR4 is a chemokine receptor on skin-homing and regulatory T cells, and on the malignant cells of cutaneous T-cell lymphoma and adult T-cell leukaemia; mogamulizumab removes those cells.","summary":"CCR4 binds CCL17/CCL22 and marks Th2 and regulatory T cells and most CTCL, Sézary and ATLL cells. Mogamulizumab (afucosylated anti-CCR4) depletes them by ADCC (MAVORIC). Because it also depletes Tregs, CCR4 blockade is being combined with checkpoint inhibitors in solid tumours (small molecules FLX475, mogamulizumab-nivolumab), so far with modest results. CCR4 gain-of-function mutations occur in ~25% of ATLL.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/CCR4_(gene)","links":[{"label":"MAVORIC (Lancet Oncol 2018)","url":"https://doi.org/10.1016/S1470-2045(18)30379-6"},{"label":"Kim et al., Lancet Oncol 2018: MAVORIC, mogamulizumab against vorinostat in previously treated cutaneous T-cell lymphoma","url":"https://doi.org/10.1016/S1470-2045(18)30379-6"},{"label":"Kataoka et al., Nat Genet 2015: integrated molecular analysis of 426 adult T-cell leukaemia/lymphoma cases","url":"https://doi.org/10.1038/ng.3415"}],"tags":["gap-fill"],"related":[],"cancers":["peripheral-t-cell-lymphoma","non-hodgkin-lymphoma"],"sections":[],"technologies":["monoclonal-antibody"],"targets":[],"drugs":["mogamulizumab"],"companies":[],"institutions":[],"pathways":["oncogenic-viruses","inflammation-nfkb"],"terms":["adcc"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma: More than 80% of mycosis fungoides and Sezary syndrome, about 90% of adult T-cell leukaemia/lymphoma, and a subset of peripheral T-cell lymphoma. Also on healthy cells: Skin-homing T cells, T-helper-2 and T-helper-17 cells, and regulatory T cells; the Human Protein Atlas reads CCR4 as lineage enriched in T cells (61 nTPM). What the medicine does: Mogamulizumab is defucosylated, which raises its affinity for the Fc receptor on natural killer cells and makes antibody-dependent cytotoxicity its main mechanism. MAVORIC randomised 372 patients with previously treated mycosis fungoides or Sezary syndrome to mogamulizumab or vorinostat and is the trial the approval rests on (Kim 2018). How tumours lose it: CCR4 is itself mutated in about a quarter of adult T-cell leukaemia/lymphoma cases, with gain-of-function truncations of the cytoplasmic tail; whether that changes antibody binding is not settled. What that costs the patient: Depletion of regulatory T cells along with the tumour, which causes rash and raises the risk of autoimmune complications, and a real and specific problem before an allogeneic transplant: mogamulizumab given shortly before transplant has been associated with severe graft-versus-host disease, because the regulatory T cells that would have restrained it are gone.","Lymphoma, HTLV-1, Tax and HBZ: Human T-lymphotropic virus 1 integrates into the genome of a CD4 T cell and expresses Tax, which switches on NF-kB and interferes with the DNA-damage response and the spindle checkpoint, and HBZ, encoded on the opposite strand, which is retained when Tax expression is switched off under immune pressure. The host genome then acquires the rest of the lesions, and they are not random: the alterations found across 426 cases overlap significantly with the proteins Tax itself binds, and are concentrated in T-cell receptor and NF-kB signalling, T-cell trafficking and immune surveillance, with activating mutations in PLCG1, PRKCB, CARD11, VAV1, IRF4, FYN, CCR4 and CCR7, CTLA4-CD28 and ICOS-CD28 fusions, and intragenic deletions of IKZF2, CARD11 and TP73 (Kataoka 2015). Frequency: Across 426 adult T-cell leukaemia/lymphoma cases analysed by whole-genome, exome, transcriptome and targeted sequencing with copy-number and methylation arrays (Kataoka 2015). Most people infected with HTLV-1 never develop the disease, and the latency between infection, usually in infancy through breastfeeding, and the leukaemia is measured in decades. What it changes about treatment: The CCR4 finding is the practical one: CCR4 is both frequently expressed and frequently mutated, and mogamulizumab is used in this disease. The virus itself is not a drug target, and antiretroviral treatment does not cure the leukaemia."],"symbol":"CCR4","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal T-cells: HPA blood lineage lineage enriched at or above 25 nTPM, and 1 antibody (Mogamulizumab) aim at it, so normal cells of the lineage are hit too. HPA CCR4: RNA tissue enhanced (lymphoid tissue 12 nTPM, urinary bladder 5 nTPM); blood lineage lineage enriched (T-cells 61 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (mycosis fungoides, Sezary syndrome); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CCR4 tissue","url":"https://www.proteinatlas.org/ENSG00000183813-CCR4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CCR4 pathology","url":"https://www.proteinatlas.org/ENSG00000183813-CCR4/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183813 associations","url":"https://platform.opentargets.org/target/ENSG00000183813/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1605","ensembl":"ENSG00000183813","uniprot":"P51679","entrez":"1233","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Power C.A. et al, J. Biol. Chem, 1995, \"Molecular cloning and functional expression of a novel CC chemokine receptor cDNA from a human basophilic cell line\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7642634/","biology":"GPCR expressed on Th2, Th17 and Treg cells and skin-homing T cells; chemotaxis to CCL17/CCL22 produced by dendritic cells and keratinocytes.","whereFound":["Mycosis fungoides / Sézary syndrome (>80%)","Adult T-cell leukaemia/lymphoma (~90%; 25% mutated)","Peripheral T-cell lymphoma (subset)","Tumour-infiltrating Tregs in solid tumours"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"peripheral-t-cell-lymphoma","pct":88.3,"measure":"IHC, CCR4 on tumour cells in adult T-cell leukaemia/lymphoma (91 of 103 patients)","source":"https://pubmed.ncbi.nlm.nih.gov/14506150/","note":"ATLL subtype only. PTCL-NOS is heterogeneous (Ishida 2004, doi:10.1158/1078-0432.CCR-04-0371) and the MAVORIC CTCL approval did not require CCR4 testing"}]},{"id":"ccr7","kind":"target","name":"CCR7","aka":["C-C motif chemokine receptor 7","C-C chemokine receptor type 7","BLR2","CDw197","CD197","CMKBR7","EBI1"],"tldr":"CCR7 (C-C chemokine receptor type 7) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Diffuse large B-cell lymphoma.","summary":"Receptor for the MIP-3-beta chemokine. Probable mediator of EBV effects on B-lymphocytes or of normal lymphocyte functions.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1608","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1608"},{"label":"UniProt P32248","url":"https://www.uniprot.org/uniprotkb/P32248/entry"},{"label":"NCBI Gene 1236","url":"https://www.ncbi.nlm.nih.gov/gene/1236"},{"label":"Ensembl ENSG00000126353","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126353"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CCR7","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1608","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1608","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P32248","url":"https://www.uniprot.org/uniprotkb/P32248/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CCR7","url":"https://www.intogen.org/search?gene=CCR7","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1608","ensembl":"ENSG00000126353","uniprot":"P32248","entrez":"1236","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Birkenbach M.P. et al, J. Virol, 1993, \"Epstein-Barr virus-induced genes: first lymphocyte-specific G protein-coupled peptide receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8383238/","biology":"Receptor for the MIP-3-beta chemokine. Probable mediator of EBV effects on B-lymphocytes or of normal lymphocyte functions. Location: Cell membrane (UniProt). Locus 17q21.2 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nectin2","kind":"target","name":"CD112 (nectin-2)","aka":["CD112","PVRL2","nectin-2","PRR2","HVEB"],"tldr":"CD112 is a widespread cell-adhesion molecule that can either encourage a T cell (through CD226) or hold it back (through PVRIG and TIGIT), depending on which receptor grabs it first.","summary":"NECTIN2 (chromosome 19q13.32) is a modulator of T-cell signalling that acts as a costimulator or a coinhibitor depending on the receptor it binds: through CD226 it stimulates proliferation and the production of IL-2, IL-5, IL-10, IL-13 and interferon gamma, through PVRIG it inhibits proliferation, and the two interactions are competitive; it is ubiquitously expressed and a probable cell-adhesion protein (UniProt Q92692). TIGIT binds PVR (CD155) or NECTIN2 (CD112) on antigen-presenting cells and sends inhibitory signals to the T cell or NK cell (UniProt Q495A1).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:9707","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9707"},{"label":"UniProt Q92692","url":"https://www.uniprot.org/uniprotkb/Q92692/entry"},{"label":"NCBI Gene 5819","url":"https://www.ncbi.nlm.nih.gov/gene/5819"}],"tags":["checkpoint-map"],"related":["pvrig","tigit","pvr"],"cancers":[],"sections":[],"technologies":["tigit-blockade"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"NECTIN2","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:9707","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9707","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt Q92692","url":"https://www.uniprot.org/uniprotkb/Q92692/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:9707","ensembl":"ENSG00000130202","uniprot":"Q92692","entrez":"5819","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Eberle et al, Gene, 1995, \"The human PRR2 gene, related to the human poliovirus receptor gene (PVR), is the true homolog of the murine MPH gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7622062/","biology":"The second ligand of the TIGIT axis and the sole established ligand of PVRIG.","whereFound":["Ubiquitous (UniProt Q92692)"],"targetClass":"checkpoint","prevalence":[]},{"id":"cd123","kind":"target","name":"CD123","aka":[],"tldr":"CD123 is the interleukin-3 receptor alpha chain, present on every blastic plasmacytoid dendritic cell neoplasm and on the blasts and leukaemia stem cells of 70 to 80% of acute myeloid leukaemias. Tagraxofusp and pivekimab sunirine target it in that rare neoplasm, and CAR-T cells against it in AML must spare the normal blood-forming progenitors that also carry it.","summary":"CD123 is the interleukin-3 receptor alpha chain (IL3RA), expressed on leukaemic stem cells and plasmacytoid dendritic cells. It is universally present in blastic plasmacytoid dendritic cell neoplasm (BPDCN) and found on blasts and leukaemic stem cells in roughly 70 to 80 percent of AML. Tagraxofusp, a CD123-directed cytotoxin, was the first approved therapy for BPDCN, and pivekimab sunirine (Decnupaz) followed with approval in 2026 for the same disease. CD123 is also a CAR-T target in AML, where the challenge is sparing normal haematopoietic progenitors that carry the antigen. Capillary leak syndrome with the fusion-toxin approach and durability of CAR-T responses remain open questions. The plain version: CD123 is an interleukin receptor over-abundant on a rare aggressive blood cancer and on leukaemia stem cells.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Interleukin-3_receptor","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Interleukin-3_receptor"}],"tags":["adc-target"],"related":[],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":["pivekimab-sunirine","tagraxofusp"],"companies":["orum-therapeutics"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"IL3RA","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal granulocytes: HPA blood lineage lineage enriched at or above 25 nTPM, and 1 cell-killing or cell-finding medicine (Pivekimab sunirine) aim at it, so normal cells of the lineage are hit too. HPA IL3RA: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 2,669 nTPM); no normal tissue stained high; highest cancer staining glioma (2 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IL3RA tissue","url":"https://www.proteinatlas.org/ENSG00000185291-IL3RA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas IL3RA pathology","url":"https://www.proteinatlas.org/ENSG00000185291-IL3RA/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185291 associations","url":"https://platform.opentargets.org/target/ENSG00000185291/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6012","ensembl":"ENSG00000185291","uniprot":"P26951","entrez":"3563","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kitamura et al, Cell, 1991, \"Expression cloning of the human IL-3 receptor cDNA reveals a shared beta subunit for the human IL-3 and GM-CSF receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1833064/","biology":"Expressed on leukaemic stem cells, plasmacytoid dendritic cells.","whereFound":["BPDCN","AML"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"aml","pct":"70-80","measure":"Blasts and leukaemic stem cells","source":"https://en.wikipedia.org/wiki/Interleukin-3_receptor","note":"Universal in BPDCN"}]},{"id":"cd137","kind":"target","name":"CD137 (4-1BB, TNFRSF9)","aka":["4-1BB","CD137","ILA","TNF receptor superfamily member 9"],"tldr":"4-1BB is a switch on activated T cells that makes them live longer and kill better. Rather than press it everywhere, new bispecific antibodies press it only on T cells that are already touching a tumour cell marked by PD-L1 or HER2.","summary":"TNFRSF9 (chromosome 1p36.23) encodes CD137 (4-1BB), the receptor for 4-1BB ligand (TNFSF9); its signal enhances CD8 T-cell survival, cytotoxicity and mitochondrial activity and so promotes immunity against viruses and tumours (UniProt Q07011). In OnCo it is the costimulatory arm of two tumour-anchored bispecifics: acasunlimab (PD-L1 x 4-1BB) in phase 3 for NSCLC, and cinrebafusp alfa (PRS-343), a HER2/4-1BB anticalin-antibody fusion protein that binds HER2 on tumour cells while engaging 4-1BB to costimulate T cells, in HER2-positive gastric cancer.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:11924","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11924"},{"label":"UniProt Q07011","url":"https://www.uniprot.org/uniprotkb/Q07011/entry"},{"label":"NCBI Gene 3604","url":"https://www.ncbi.nlm.nih.gov/gene/3604"}],"tags":["wave5-target"],"related":["pdl1","her2","cd28"],"cancers":["nsclc","gastric"],"sections":[],"technologies":["bispecific-antibody"],"targets":[],"drugs":["acasunlimab","cinrebafusp-alfa"],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle","pd1-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"TNFRSF9","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA TNFRSF9: RNA tissue enhanced (lymphoid tissue 9 nTPM); blood lineage group enriched (granulocytes 9 nTPM, NK-cells 5 nTPM, T-cells 19 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TNFRSF9 tissue","url":"https://www.proteinatlas.org/ENSG00000049249-TNFRSF9/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q07011","url":"https://www.uniprot.org/uniprotkb/Q07011/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000049249 associations","url":"https://platform.opentargets.org/target/ENSG00000049249/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11924","ensembl":"ENSG00000049249","uniprot":"Q07011","entrez":"3604","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schwarz et al, Gene, 1993, \"A receptor induced by lymphocyte activation (ILA): a new member of the human nerve-growth-factor/tumor-necrosis-factor receptor family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8262389/","biology":"Both corpus agents cluster 4-1BB only where the other arm has bound a tumour antigen (PD-L1 or HER2), so costimulation is confined to T cells in contact with the tumour rather than delivered systemically.","whereFound":["Activated CD8 T cells","NSCLC (acasunlimab) and HER2-positive gastric cancer (cinrebafusp alfa) trials"],"targetClass":"surface-antigen","prevalence":[]},{"id":"pvr","kind":"target","name":"CD155 (PVR)","aka":["CD155","poliovirus receptor","Necl-5","NECL5","PVS"],"tldr":"CD155 is the molecule on tumour cells that TIGIT and CD96 read; normal tissue barely shows it, many tumours show a lot. Every TIGIT antibody works by breaking the CD155 handshake.","summary":"PVR (chromosome 19q13.31) encodes CD155, which mediates NK-cell adhesion and triggers NK effector functions through two NK-cell receptors, CD96 and CD226, at the immunological synapse (UniProt P15151). It is barely or weakly expressed in various normal human tissues but frequently over-expressed in malignant tumours, promotes invasion and migration, is associated with shorter survival, and as the ligand of the co-stimulatory receptor CD226 and the co-inhibitory receptors TIGIT and CD96 it plays a dual role in onco-immunity (Kučan Brlić et al. 2017, Cell Mol Immunol).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:9705","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9705"},{"label":"UniProt P15151","url":"https://www.uniprot.org/uniprotkb/P15151/entry"},{"label":"NCBI Gene 5817","url":"https://www.ncbi.nlm.nih.gov/gene/5817"},{"label":"Kučan Brlić et al. 2017, Cell Mol Immunol (Europe PMC)","url":"https://europepmc.org/article/MED/28730595"}],"tags":["checkpoint-map"],"related":["tigit","cd96","nectin2","tiragolumab"],"cancers":[],"sections":[],"technologies":["tigit-blockade"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"PVR","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:9705","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9705","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P15151","url":"https://www.uniprot.org/uniprotkb/P15151/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:9705","ensembl":"ENSG00000073008","uniprot":"P15151","entrez":"5817","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mendelsohn C.L. et al, Cell, 1989, \"Cellular receptor for poliovirus: molecular cloning, nucleotide sequence, and expression of a new member of the immunoglobulin superfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2538245/","biology":"A nectin-like adhesion molecule and the poliovirus receptor; the shared ligand of the DNAM-1/TIGIT/CD96 axis.","whereFound":["Weak in normal tissue, frequently over-expressed in malignant tumours (Kučan Brlić et al. 2017)"],"targetClass":"checkpoint","prevalence":[]},{"id":"cd19","kind":"target","name":"CD19","aka":[],"tldr":"CD19 is a marker on B cells and B-cell cancers, and was the target of the first CAR-T therapies ever approved.","summary":"CD19 is expressed throughout B-cell development and on nearly all B-cell malignancies. Target of tisagenlecleucel, axicabtagene, lisocabtagene, brexucabtagene, obecabtagene (CAR-T), blinatumomab (BiTE), tafasitamab, and loncastuximab tesirine (ADC). CD19 CAR-T is now also used in autoimmune disease.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD19","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD19"},{"label":"Sotillo et al., Cancer Discov 2015: acquired mutations and alternative splicing of CD19 enable resistance to CART-19","url":"https://doi.org/10.1158/2159-8290.CD-15-1020"},{"label":"Plaks et al., Blood 2021: CD19 target evasion as a mechanism of relapse after axicabtagene ciloleucel in large B-cell lymphoma","url":"https://doi.org/10.1182/blood.2021010930"}],"tags":["car-t-target"],"related":["cd19-expression"],"cancers":["all-leukemia","dlbcl","cll","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["mk-1045","rondecabtagene-autoleucel","azd0486","zamtocabtagene-autoleucel","tc011","englumafusp-alfa","crc01","gc012f","jnj-90014496","ctx112","at101","cd19-t-hank","tbi-1501"],"companies":["capstan-therapeutics","century-therapeutics","cullinan-therapeutics","iksuda-therapeutics","imugene","janux-therapeutics","kelonia-therapeutics","kernal-biologics","lyell-immunopharma","poseida-therapeutics"],"institutions":[],"pathways":[],"terms":[],"trials":["nct06948981","nct06179524","nct05326243","nct04684147","nct07284433"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma: The same B-cell lymphomas as CD20, and it appears earlier in B-cell development and stays on after CD20 is lost, which is why it is the second address rather than a duplicate of the first. Also on healthy cells: Normal B cells from the pro-B stage onwards; the Human Protein Atlas reads CD19 as lineage enriched in B cells (173 nTPM). A subset of normal plasma cells keeps it. What the medicine does: CD19 internalises, so it carries all three formats: a naked Fc-engineered antibody (tafasitamab), an antibody-drug conjugate, and the four approved CAR-T products in lymphoma (axicabtagene ciloleucel, tisagenlecleucel, lisocabtagene maraleucel and, in mantle cell lymphoma, brexucabtagene autoleucel). How tumours lose it: Antigen escape after CAR-T is the best-characterised escape route of any lymphoma surface target. Relapse with loss of the epitope follows 10 to 20% of paediatric responses in B-cell acute lymphoblastic leukaemia, and the mechanism is a combination: hemizygous deletions across the CD19 locus, de novo frameshift and missense mutations in exon 2, and selection for an alternatively spliced messenger RNA lacking exon 2 whose truncated protein no longer presents the CAR epitope but still partly rescues the cell (Sotillo 2015). CD19 target evasion also occurs in large B-cell lymphoma after axicabtagene ciloleucel (Plaks 2021); OnCo does not hold a share it can stand behind for lymphoma, because the published series are small and the reported figures do not agree. What that costs the patient: The same B-cell aplasia and hypogammaglobulinaemia as anti-CD20, but deeper and longer after CAR-T, where it can last years and is managed with immunoglobulin replacement. Because CD19 appears earlier in B-cell development than CD20, recovery is slower."],"symbol":"CD19","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal B-cells: the label readouts filed under it score its expression (CD19 expression (CD19-positive)), and HPA finds the gene lineage enriched in that blood lineage at or above 25 nTPM, so medicines aimed at it clear the normal lineage too. HPA CD19: RNA group enriched (intestine 31 nTPM, lymphoid tissue 71 nTPM); blood lineage lineage enriched (B-cells 173 nTPM); high antibody staining in 4 normal tissues; highest cancer staining lymphoma (5 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 6 specific cancer types at or above 0.5 (diffuse large B-cell lymphoma, acute lymphoblastic leukemia, mantle cell lymphoma, follicular lymphoma, B-cell acute lymphoblastic leukemia, B-cell non-Hodgkin lymphoma). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"CD19 expression (CD19-positive) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=38b482a8-960b-4591-9857-5031ecb830aa","note":"CD19-positive (flow cytometry, no percentage stated)"},{"label":"Human Protein Atlas CD19 tissue","url":"https://www.proteinatlas.org/ENSG00000177455-CD19/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CD19 pathology","url":"https://www.proteinatlas.org/ENSG00000177455-CD19/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000177455 associations","url":"https://platform.opentargets.org/target/ENSG00000177455/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1633","ensembl":"ENSG00000177455","uniprot":"P15391","entrez":"930","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stamenkovic et al, J. Exp. Med, 1988, \"CD19, the earliest differentiation antigen of the B cell lineage, bears three extracellular immunoglobulin-like domains and an Epstein-Barr virus-related cytoplasmic tail\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2459292/","biology":"B-cell co-receptor; loss of CD19 is a common escape mechanism after CAR-T.","whereFound":["ALL","DLBCL","Follicular lymphoma","Mantle cell lymphoma","CLL"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"all-leukemia","pct":">95","measure":"B-ALL surface expression","source":"https://en.wikipedia.org/wiki/CD19"},{"cancerId":"dlbcl","pct":">95","measure":"Surface expression","source":"https://en.wikipedia.org/wiki/CD19","note":"Loss in ~30% of CAR-T relapses"},{"cancerId":"cll","pct":">95","measure":"Surface expression","source":"https://en.wikipedia.org/wiki/CD19"}]},{"id":"cd20","kind":"target","name":"CD20","aka":[],"tldr":"CD20 is a B-cell marker; rituximab against it was the first antibody approved for cancer, in 1997.","summary":"CD20 (MS4A1) is a B-cell tetraspanin that regulates calcium flux; it is not internalised, which favours effector-based antibodies and T-cell engagers over ADCs, and it is present on over 95% of DLBCL and, more dimly, over 90% of CLL. It is the target of rituximab, the first antibody approved for cancer in 1997, and of obinutuzumab. The CD20×CD3 bispecifics glofitamab, epcoritamab, mosunetuzumab, and odronextamab now offer off-the-shelf T-cell redirection in lymphoma without the manufacturing wait of CAR-T. Loss of CD20 expression is a recognised escape route after repeated anti-CD20 therapy, and the best sequencing of bispecifics versus CAR-T is still being worked out. The simple version is the B-cell marker that started antibody therapy for cancer and now anchors the newest T-cell engagers.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD20","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD20"},{"label":"Hiraga et al., Blood 2009: CD20-negative transformation after rituximab-containing chemotherapy (19 rebiopsied patients)","url":"https://doi.org/10.1182/blood-2008-08-175208"}],"tags":["antibody-target"],"related":["cd20-expression"],"cancers":["dlbcl","cll","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["ibritumomab-tiuxetan","ofatumumab","rondecabtagene-autoleucel","tqb2825","zamtocabtagene-autoleucel","azd5492","jnj-90014496"],"companies":["leah-labs","lyell-immunopharma","poseida-therapeutics"],"institutions":[],"pathways":[],"terms":[],"trials":["nct07284433"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma: Almost every mature B-cell lymphoma: diffuse large B-cell, follicular, marginal zone, mantle cell, Burkitt, and the B cells of nodular lymphocyte-predominant Hodgkin lymphoma. Also on healthy cells: Every normal B cell from the late pre-B stage to the memory B cell. The Human Protein Atlas reads MS4A1 as tissue enriched in lymphoid tissue (631 nTPM) and lineage enriched in B cells (630 nTPM), which is the strongest B-cell signal of any lymphoma surface target. What the medicine does: CD20 is a tetraspanin that is not internalised when an antibody binds it, so the antibody has to kill from the outside: complement-dependent cytotoxicity, antibody-dependent cellular cytotoxicity and phagocytosis. That is why CD20 carries naked antibodies (rituximab, obinutuzumab, ofatumumab) and T-cell engagers (glofitamab, mosunetuzumab, epcoritamab, odronextamab) but no antibody-drug conjugate: there is no route in for a payload. How tumours lose it: CD20-negative transformation after rituximab is real and under-measured because most relapses are not rebiopsied. In a single-centre series of 124 patients treated with rituximab-containing chemotherapy, 36 relapsed or progressed, 19 were rebiopsied and 5 of those 19 (26.3%) had become CD20 protein-negative; CD20 messenger RNA was lower in the negative cells than in the positive cells from the same patient, so this is transcriptional down-regulation rather than deletion (Hiraga 2009). Trogocytosis, in which macrophages shave antibody-CD20 complexes off the cell surface, lowers the antigen without changing the gene at all. What that costs the patient: B-cell aplasia for six to twelve months after the last dose, low immunoglobulin levels that can persist for years, and a measurable rise in bacterial and viral infection. Two consequences are specific and avoidable: hepatitis B reactivation, which is why surface antigen and core antibody are checked before the first dose, and a blunted response to vaccination for several months after treatment."],"symbol":"MS4A1","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal B-cells and lymphoid tissue cells: the label readouts filed under it score its expression (CD20 expression (CD20-positive)), and HPA finds the gene lineage enriched in that blood lineage at or above 25 nTPM, so medicines aimed at it clear the normal lineage too. HPA MS4A1: RNA tissue enriched (lymphoid tissue 631 nTPM); blood lineage lineage enriched (B-cells 630 nTPM); high antibody staining in 4 normal tissues; highest cancer staining lymphoma (11 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia); Open Targets associates it with 6 specific cancer types at or above 0.5 (B-cell chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, non-Hodgkin lymphoma, acute lymphoblastic leukemia, B-cell non-Hodgkin lymphoma). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"CD20 expression (CD20-positive) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=b172773b-3905-4a1c-ad95-bab4b6126563","note":"CD20-positive"},{"label":"Human Protein Atlas MS4A1 tissue","url":"https://www.proteinatlas.org/ENSG00000156738-MS4A1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MS4A1 pathology","url":"https://www.proteinatlas.org/ENSG00000156738-MS4A1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000156738 associations","url":"https://platform.opentargets.org/target/ENSG00000156738/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7315","ensembl":"ENSG00000156738","uniprot":"P11836","entrez":"931","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stamenkovic et al, J. Exp. Med, 1988, \"Analysis of two cDNA clones encoding the B lymphocyte antigen CD20 (B1, Bp35), a type III integral membrane protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3260267/","biology":"CD20 is a tetraspanin regulating B-cell calcium flux; it is not internalised, favouring effector-based antibodies over ADCs.","whereFound":["DLBCL","Follicular lymphoma","CLL","Mantle cell lymphoma"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"dlbcl","pct":">95","measure":"Surface expression","source":"https://en.wikipedia.org/wiki/CD20"},{"cancerId":"cll","pct":">90","measure":"Dim surface expression","source":"https://en.wikipedia.org/wiki/CD20"}]},{"id":"cd200","kind":"target","name":"CD200","aka":["CD200 molecule","OX-2 membrane glycoprotein","OX-2","MOX1","MOX2"],"tldr":"CD200 (OX-2 membrane glycoprotein) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.61, clinical 0.15).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7203","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7203"},{"label":"UniProt P41217","url":"https://www.uniprot.org/uniprotkb/P41217/entry"},{"label":"NCBI Gene 4345","url":"https://www.ncbi.nlm.nih.gov/gene/4345"},{"label":"Ensembl ENSG00000091972","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000091972"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.15. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CD200","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7203","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7203","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P41217","url":"https://www.uniprot.org/uniprotkb/P41217/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000091972","url":"https://platform.opentargets.org/target/ENSG00000091972/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"specificity":"immune-microenvironment","distribution":"not-established","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA CD200: RNA tissue enhanced (brain 64 nTPM); blood lineage lineage enriched (B-cells 84 nTPM); high antibody staining in 10 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD200 tissue","url":"https://www.proteinatlas.org/ENSG00000091972-CD200/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P41217","url":"https://www.uniprot.org/uniprotkb/P41217/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000091972 associations","url":"https://platform.opentargets.org/target/ENSG00000091972/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7203","ensembl":"ENSG00000091972","uniprot":"P41217","entrez":"4345","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McCaughan G.W. et al, Immunogenetics, 1987, \"Characterization of the human homolog of the rat MRC OX-2 membrane glycoprotein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3032785/","biology":"Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues. Location: Cell membrane (UniProt). Locus 3q13.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"cd209","kind":"target","name":"CD209","aka":["CD209 molecule","CD209 antigen","DC-SIGN","hDC-SIGN","CDSIGN","DC-SIGN1","CLEC4L"],"tldr":"CD209 (CD209 antigen) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Gastric & gastro-oesophageal junction cancer and Non-small-cell lung cancer.","summary":"Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response.\n\nIntOGen calls it a driver in 3 cohorts (2 activating, 1 loss-of-function), covering Invasive Breast Carcinoma, Lung Squamous Cell Carcinoma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1641","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1641"},{"label":"UniProt Q9NNX6","url":"https://www.uniprot.org/uniprotkb/Q9NNX6/entry"},{"label":"NCBI Gene 30835","url":"https://www.ncbi.nlm.nih.gov/gene/30835"},{"label":"Ensembl ENSG00000090659","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000090659"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer","gastric","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CD209","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1641","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1641","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NNX6","url":"https://www.uniprot.org/uniprotkb/Q9NNX6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CD209","url":"https://www.intogen.org/search?gene=CD209","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1641","ensembl":"ENSG00000090659","uniprot":"Q9NNX6","entrez":"30835","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Curtis B.M. et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Sequence and expression of a membrane-associated C-type lectin that exhibits CD4-independent binding of human immunodeficiency virus envelope glycoprotein gp 120\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1518869/","biology":"Pathogen-recognition receptor expressed on the surface of immature dendritic cells (DCs) and involved in initiation of primary immune response. Thought to mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. The receptor returns to the cell membrane surface and the pathogen-derived antigens are presented to resting T-cells via MHC class II proteins to initiate the adaptive immune response. On dendritic cells (DCs) it is a high affinity receptor for ICAM2 and ICAM3 by binding to mannose-like carbohydrates. May act as a DC rolling receptor that mediates transendothelial migration of DC presursors from blood to tissues by binding endothelial ICAM2. Forms a first contact between DC and resting T cell, througth ICAM3 binding, facilitating the downstream DC-T cell clustering process and DC-induced proliferation of resting T Cells. Location: Membrane raft; Cell membrane; Secreted (UniProt). Locus 19p13.2 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"oncogene","prevalence":[]},{"id":"cd22","kind":"target","name":"CD22","aka":[],"tldr":"CD22 is a B-cell surface protein and the docking site for the leukaemia ADC inotuzumab ozogamicin.","summary":"CD22 is expressed on >90% of B-ALL blasts and on B-cell lymphomas. Inotuzumab ozogamicin (INO-VATE) is approved in relapsed/refractory B-ALL and is moving into frontline for older adults (ALLIANCE A041501) and children (COG AALL1732). CD22 CAR-T (including CD19/CD22 bispecific CARs) targets CD19-negative relapse. Antigen density, not just positivity, predicts CAR-T response.","asOf":"2026-09-07","wikipedia":"https://en.wikipedia.org/wiki/CD22","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD22"},{"label":"Davis et al., Nature 2010: chronic active B-cell receptor signalling in diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/nature08638"}],"tags":["adc-target","car-t-target"],"related":["cd22-expression"],"cancers":["all-leukemia","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["inotuzumab-ozogamicin","ucart22","azd4512"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma: More than 90% of B-cell acute lymphoblastic leukaemia and most B-cell non-Hodgkin lymphomas; hairy cell leukaemia carries it strongly. Also on healthy cells: Normal mature B cells; the Human Protein Atlas reads CD22 as lineage enriched in B cells (121 nTPM) and tissue enhanced in lymphoid tissue and ovary. What the medicine does: CD22 is an inhibitory co-receptor of the B-cell receptor that recycles rapidly between the surface and the endosome, which suits conjugate delivery; inotuzumab ozogamicin is the licensed example, in acute lymphoblastic leukaemia rather than in lymphoma. In lymphoma CD22 is mainly a second address after CD19 CAR-T fails. How tumours lose it: Density matters more than presence: after CD22-directed treatment, relapses often keep the antigen but at a lower surface density than the construct needs. What that costs the patient: B-cell depletion again, and for the calicheamicin conjugate hepatic sinusoidal obstruction syndrome, which is why it is used cautiously before a transplant."],"symbol":"CD22","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal B-cells: the label readouts filed under it score its expression (CD22 expression (CD22-positive)), and HPA finds the gene lineage enriched in that blood lineage at or above 25 nTPM, so medicines aimed at it clear the normal lineage too. HPA CD22: RNA tissue enhanced (lymphoid tissue 215 nTPM, ovary 125 nTPM); blood lineage lineage enriched (B-cells 121 nTPM); high antibody staining in 2 normal tissues; highest cancer staining lymphoma (1 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, hairy cell leukemia). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"CD22 expression (CD22-positive) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=cc7014b1-c775-411d-b374-8113248b4077","note":"CD22-positive"},{"label":"Human Protein Atlas CD22 tissue","url":"https://www.proteinatlas.org/ENSG00000012124-CD22/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CD22 pathology","url":"https://www.proteinatlas.org/ENSG00000012124-CD22/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000012124 associations","url":"https://platform.opentargets.org/target/ENSG00000012124/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1643","ensembl":"ENSG00000012124","uniprot":"P20273","entrez":"933","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stamenkovic et al, Nature, 1990, \"The B-cell antigen CD22 mediates monocyte and erythrocyte adhesion\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1691828/","biology":"Siglec-2; inhibitory co-receptor of the B-cell receptor, rapidly internalising, which suits ADC delivery.","whereFound":["B-ALL (>90%)","B-cell lymphomas","Hairy cell leukaemia"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"all-leukemia","pct":">90","measure":"expression on B-ALL blasts"}]},{"id":"cd24","kind":"target","name":"CD24","aka":["CD24 molecule","signal transducer CD24","CD24A"],"tldr":"CD24 is a second 'don't eat me' badge after CD47: tumours show it to Siglec-10 on macrophages, which then leave them alone. Blocking antibodies are in first-in-human trials.","summary":"CD24 (chromosome 6q21) is a small GPI-anchored glycoprotein expressed on B cells and the T-cell surface and in erythroleukaemia and small-cell lung carcinoma cell lines; it modulates B-cell activation (UniProt P25063). Normally expressed by immune, epithelial, neural and muscle cells, its interaction with Siglec-10 has been implicated in tumour immune evasion, inhibiting macrophage-mediated phagocytosis as well as NK-cell cytotoxicity; monoclonal antibodies against CD24 have shown clinical safety in two trials, with limited efficacy data (Panagiotou et al. 2022). IMM47, an anti-CD24 antibody, entered a phase 1 study in advanced solid tumours (NCT05985083, status unknown).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:1645","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1645"},{"label":"UniProt P25063","url":"https://www.uniprot.org/uniprotkb/P25063/entry"},{"label":"NCBI Gene 100133941","url":"https://www.ncbi.nlm.nih.gov/gene/100133941"},{"label":"Panagiotou et al. 2022, Cancers (Europe PMC)","url":"https://europepmc.org/article/MED/36013184"}],"tags":["checkpoint-map"],"related":["siglec10","cd47","macrophage"],"cancers":[],"sections":[],"technologies":["cd47-blockade"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"CD24","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:1645","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1645","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P25063","url":"https://www.uniprot.org/uniprotkb/P25063/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:1645","ensembl":"ENSG00000272398","uniprot":"P25063","entrez":"100133941","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kay et al, J. Immunol, 1991, \"CD24, a signal transducer modulating B cell activation responses, is a very short peptide with a glycosyl phosphatidylinositol membrane anchor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1831224/","biology":"A heavily glycosylated GPI-anchored surface protein; the ligand of Siglec-10.","whereFound":["B cells, T-cell surface (UniProt P25063)","Epithelial tumours, per the cited review"],"targetClass":"checkpoint","prevalence":[]},{"id":"cd25","kind":"target","name":"CD25 (IL-2 receptor alpha)","aka":[],"tldr":"CD25 is the part of the interleukin-2 receptor found on activated T cells and on some lymphoma cells; denileukin diftitox uses it as a doorway to deliver a toxin.","summary":"CD25, the alpha chain of the high-affinity interleukin-2 receptor (IL2RA), is expressed on activated T cells, regulatory T cells and the malignant cells of cutaneous T-cell lymphoma, adult T-cell leukaemia/lymphoma and some Hodgkin and B-cell lymphomas. Denileukin diftitox, a fusion of IL-2 with diphtheria toxin fragments, binds CD25-expressing cells and kills them by blocking protein synthesis; it was approved in 1999, withdrawn in 2014 for manufacturing reasons and reapproved as Lymphir in 2024 for relapsed or refractory stage I to III CTCL. Anti-CD25 antibodies (basiliximab, daclizumab) are used in transplantation and were studied in leukaemia and for regulatory T-cell depletion.","asOf":"2026-09-10","wikipedia":"https://en.wikipedia.org/wiki/IL2RA","links":[{"label":"NCBI Gene IL2RA","url":"https://www.ncbi.nlm.nih.gov/gene/3559"}],"tags":["surface-antigen"],"related":[],"cancers":["hodgkin-lymphoma","peripheral-t-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["denileukin-diftitox","tak-928"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":["shimon-sakaguchi"],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"IL2RA","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"one-type","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA IL2RA: RNA tissue enhanced (adipose tissue 18 nTPM, lymphoid tissue 17 nTPM, urinary bladder 10 nTPM); blood lineage group enriched (granulocytes 193 nTPM, T-cells 271 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (primary cutaneous T-cell non-Hodgkin lymphoma, renal cell carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IL2RA tissue","url":"https://www.proteinatlas.org/ENSG00000134460-IL2RA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P01589","url":"https://www.uniprot.org/uniprotkb/P01589/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000134460 associations","url":"https://platform.opentargets.org/target/ENSG00000134460/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6008","ensembl":"ENSG00000134460","uniprot":"P01589","entrez":"3559","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nikaido et al, Nature, 1984, \"Molecular cloning of cDNA encoding human interleukin-2 receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6090949/","biology":"CD25 confers high-affinity IL-2 binding; its density on regulatory T cells makes it a candidate for depleting immunosuppressive cells in the tumour microenvironment.","whereFound":["Cutaneous T-cell lymphoma (about half of cases express CD25)","Adult T-cell leukaemia/lymphoma","Hodgkin lymphoma (Reed-Sternberg cells)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"hodgkin-lymphoma","pct":58,"measure":"IHC (anti-Tac), IL-2 receptor in >10% of cells, 12 Hodgkin's disease cases","source":"https://pubmed.ncbi.nlm.nih.gov/3103454/","note":"Strauchen and Breakstone 1987 (Am J Pathol), 166-case series; positivity includes Reed-Sternberg cells"},{"cancerId":"peripheral-t-cell-lymphoma","pct":86,"measure":"IHC (anti-Tac), IL-2 receptor in >10% of cells, 13 peripheral T-cell lymphomas","source":"https://pubmed.ncbi.nlm.nih.gov/3103454/","note":"Strauchen and Breakstone 1987; in cutaneous T-cell lymphoma Jones 2004 found strong CD25 in 13 of 17 skin biopsies with lower expression in paired lymph nodes (doi:10.1158/1078-0432.CCR-0721-03)"}]},{"id":"cd27","kind":"target","name":"CD27","aka":["TNFRSF7","CD27 molecule","Tp55","S152"],"tldr":"CD27 is an accelerator on most T cells that is pressed by CD70. Agonist antibodies against it reached phase 2 in lymphoma; its partner CD70 is a separate target for antibodies and CAR-T cells.","summary":"CD27 (chromosome 12p13.31) is a costimulatory immune-checkpoint receptor on T cells, NK cells and B cells that is activated by its ligand CD70 on B cells; CD70-CD27 signalling mediates antigen-specific T-cell activation and expansion (UniProt P26842). It is found in most T lymphocytes. Varlilumab (CDX-1127), a CD27 agonist antibody, reached phase 2 with nivolumab in relapsed aggressive B-cell lymphoma (NCT03038672); several combination studies were terminated for portfolio re-prioritisation (NCT02386111).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:11922","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11922"},{"label":"UniProt P26842","url":"https://www.uniprot.org/uniprotkb/P26842/entry"},{"label":"NCBI Gene 939","url":"https://www.ncbi.nlm.nih.gov/gene/939"},{"label":"ClinicalTrials.gov NCT03038672","url":"https://clinicaltrials.gov/study/NCT03038672"}],"tags":["checkpoint-map"],"related":["cd70","nivolumab","cd137"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"CD27","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:11922","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11922","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P26842","url":"https://www.uniprot.org/uniprotkb/P26842/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:11922","ensembl":"ENSG00000139193","uniprot":"P26842","entrez":"939","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Camerini et al, J. Immunol, 1991, \"The T cell activation antigen CD27 is a member of the nerve growth factor/tumor necrosis factor receptor gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1655907/","biology":"A TNF-receptor-superfamily costimulator; the CD70 side has its own target page.","whereFound":["Most T lymphocytes; NK and B cells (UniProt P26842)","B-cell lymphoma trials of varlilumab (NCT03038672)"],"targetClass":"surface-antigen","prevalence":[]},{"id":"cd28","kind":"target","name":"CD28","aka":["CD28 molecule","CD28 costimulatory receptor"],"tldr":"CD28 is the second signal a T cell needs before it attacks. Many CAR-T cells carry a piece of CD28 inside them to fire harder, ipilimumab works by stopping CTLA-4 from hogging CD28's partners, and a new bispecific antibody presses CD28 directly on T cells that are already bound to prostate cancer cells.","summary":"CD28 (chromosome 2q33.2) is the T-cell receptor for CD80 and CD86 that drives T-cell activation, proliferation and survival: it amplifies T-cell receptor signals and delivers its own, recruiting PKC-theta and GRB2 to activate NF-kappa-B through PI3K/AKT-dependent and independent routes and raising proliferation and IL-2 production in CD4 and CD8 T cells (UniProt P10747). In OnCo it appears three ways: as the costimulatory domain built into the CD19 CAR-T products axicabtagene and brexucabtagene (the lisocabtagene record notes slower expansion and less CRS and ICANS than CD28-based products); as the receptor CTLA-4 outcompetes for B7 ligands, the priming step ipilimumab releases; and as the T-cell arm of JNJ-87189401, a PSMA x CD28 costimulatory bispecific in phase 3 for prostate cancer.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:1653","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1653"},{"label":"UniProt P10747","url":"https://www.uniprot.org/uniprotkb/P10747/entry"},{"label":"NCBI Gene 940","url":"https://www.ncbi.nlm.nih.gov/gene/940"}],"tags":["wave5-target"],"related":["ipilimumab","axicabtagene-ciloleucel","brexucabtagene-autoleucel","lisocabtagene-maraleucel","ctla4","cd80","psma"],"cancers":["prostate","dlbcl"],"sections":[],"technologies":["car-t","bispecific-antibody"],"targets":[],"drugs":["jnj-87189401"],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle","pd1-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"CD28","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA CD28: RNA group enriched (lymphoid tissue 29 nTPM, placenta 14 nTPM); blood lineage lineage enriched (T-cells 102 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD28 tissue","url":"https://www.proteinatlas.org/ENSG00000178562-CD28/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P10747","url":"https://www.uniprot.org/uniprotkb/P10747/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000178562 associations","url":"https://platform.opentargets.org/target/ENSG00000178562/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1653","ensembl":"ENSG00000178562","uniprot":"P10747","entrez":"940","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aruffo et al, Proc. Natl. Acad. Sci. U.S.A, 1987, \"Molecular cloning of a CD28 cDNA by a high-efficiency COS cell expression system\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2825196/","biology":"CD28 is constitutively expressed on T cells, and CD80 on antigen-presenting cells is its primary auxiliary signal (UniProt P33681). The bispecific approach costimulates only T cells whose other arm is already engaged with a tumour antigen, here PSMA.","whereFound":["T cells (constitutive); the costimulatory domain of CD19 CAR-T products","Prostate cancer (PSMA x CD28 bispecific JNJ-87189401)"],"targetClass":"surface-antigen","prevalence":[]},{"id":"cd3","kind":"target","name":"CD3","aka":[],"tldr":"CD3 is the switch on every T cell. Bispecific drugs grab it with one arm and the tumour with the other, forcing the T cell to attack.","summary":"CD3 (gene CD3E) is the invariant signalling component of the T-cell receptor complex, and engaging it triggers T-cell activation and cytokine release independent of MHC presentation. It is found on all T cells and is therefore an effector handle rather than a tumour target. Every T-cell engager, including blinatumomab, teclistamab, tarlatamab, glofitamab and tebentafusp, uses an anti-CD3 arm to recruit any passing T cell to a tumour antigen bound by the other arm. Affinity tuning of the CD3 arm is the main lever on cytokine release syndrome, and step-up dosing is the standard clinical countermeasure. How much CD3 affinity, valency and format can be optimised to separate potency from toxicity is still being worked out. The plain version: bispecifics grab CD3 with one arm and the tumour with the other, forcing the T cell to attack.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD3_(immunology)","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD3_(immunology)"},{"label":"Kuppers, Nat Rev Cancer 2009: the biology of Hodgkin's lymphoma","url":"https://doi.org/10.1038/nrc2542"}],"tags":["t-cell-engager-target"],"related":[],"cancers":["non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["catumaxomab","asp2138","azd0486","tqb2825","azd6621","cart84","azd5863"],"companies":["asher-bio","cullinan-therapeutics","cytomx-therapeutics","harpoon-therapeutics","janux-therapeutics"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not applicable: CD3 is the T-cell effector arm of bispecific engagers, not a tumour antigen, so no expression rate by cancer is recorded. Surface CD3 is present on most mature T-cell lymphomas, but that is not what the drugs select for.","Lymphoma: Every T cell in the body. In T-cell lymphoma the tumour carries it too, which is the central difficulty of treating T-cell disease with T cells. Also on healthy cells: All of them. CD3 is the one target in lymphoma that is not on the tumour at all in B-cell disease: it is the arm the bispecific antibody grips so that the other arm can hold the tumour. What the medicine does: A CD3-engaging bispecific antibody forces an immunological synapse between a T cell and a tumour cell without needing the T cell to recognise anything, so it bypasses the loss of antigen presentation that defeats a checkpoint inhibitor. Glofitamab, mosunetuzumab, epcoritamab and odronextamab all hold CD20 with the other arm; glofitamab holds two CD20 molecules to one CD3. How tumours lose it: The tumour does not lose CD3. What limits the class is the T cell: exhausted or scarce T cells after several lines of treatment, and the same CD20 loss that defeats rituximab. What that costs the patient: Cytokine release syndrome and neurotoxicity, which is why these drugs are given with a step-up dosing schedule over the first cycle, and why the first doses are given where a patient can be watched. The toxicity is the mechanism working, not a side reaction."],"symbol":"CD3E","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"many-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA CD3E: RNA tissue enriched (lymphoid tissue 596 nTPM); blood lineage group enriched (NK-cells 203 nTPM, T-cells 503 nTPM); high antibody staining in 3 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 5 specific cancer types at or above 0.5 (plasma cell myeloma, diffuse large B-cell lymphoma, acute lymphoblastic leukemia, follicular lymphoma, small cell lung carcinoma). (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD3E tissue","url":"https://www.proteinatlas.org/ENSG00000198851-CD3E/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P07766","url":"https://www.uniprot.org/uniprotkb/P07766/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000198851 associations","url":"https://platform.opentargets.org/target/ENSG00000198851/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1674","ensembl":"ENSG00000198851","uniprot":"P07766","entrez":"916","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gold D.P. et al, Nature, 1986, \"Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3012357/","biology":"Invariant TCR co-receptor; engagement triggers activation and cytokine release independent of MHC.","whereFound":["All T cells (effector arm, not a tumour target)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"metastatic-cancer","pct":"immune","measure":"Immune-cell target (CD3 on every T cell, the arm that T-cell engagers pull on): expressed on immune cells rather than on the tumour, so patient selection rests on the cancer type and, in trials, on PD-L1 or immune biomarkers."}]},{"id":"cd30","kind":"target","name":"CD30","aka":[],"tldr":"CD30 is a protein on the malignant Reed-Sternberg cells of Hodgkin lymphoma and on some T-cell lymphomas, and the address for the ADC brentuximab vedotin.","summary":"TNF-receptor family member expressed on activated lymphocytes and near-universally on Hodgkin Reed-Sternberg cells, anaplastic large-cell lymphoma, and subsets of peripheral T-cell lymphoma and DLBCL. Brentuximab vedotin (2011) validated it; CD30 CAR-T (phase 1/2, ~60-70% ORR in relapsed Hodgkin) and CD30 bispecifics are in trials. Expression level does not predict brentuximab response well.","asOf":"2026-09-07","wikipedia":"https://en.wikipedia.org/wiki/CD30","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD30"},{"label":"Kuppers, Nat Rev Cancer 2009: the biology of Hodgkin's lymphoma","url":"https://doi.org/10.1038/nrc2542"},{"label":"Kuppers et al., PNAS 1994: micromanipulated Hodgkin and Reed-Sternberg cells carry clonal immunoglobulin rearrangements","url":"https://doi.org/10.1073/pnas.91.23.10962"},{"label":"Steidl et al., N Engl J Med 2010: tumour-associated macrophages and survival in classical Hodgkin lymphoma","url":"https://doi.org/10.1056/NEJMoa0905680"},{"label":"Young and Rickinson, Nat Rev Cancer 2004: Epstein-Barr virus, 40 years on","url":"https://doi.org/10.1038/nrc1452"}],"tags":["adc-target"],"related":["cd30-expression"],"cancers":["hodgkin-lymphoma","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["brentuximab-vedotin","eb-car30-nk"],"companies":[],"institutions":[],"pathways":["tumor-microenvironment","antigen-presentation-immunoediting","myeloid-suppression-axis","oncogenic-viruses","inflammation-nfkb"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma: Essentially every Reed-Sternberg cell of classical Hodgkin lymphoma, anaplastic large cell lymphoma, a subset of peripheral T-cell lymphoma and of primary mediastinal B-cell lymphoma, and lymphomatoid papulosis. Also on healthy cells: Activated T and B cells, and monocytes: the Human Protein Atlas reads TNFRSF8 as lineage enriched in monocytes (97 nTPM). Resting lymphocytes do not carry it, which is why CD30 is the closest thing in lymphoma to a tumour-restricted antigen in an adult. What the medicine does: CD30 signals to NF-kB through TRAF proteins and internalises, so it carries the conjugate brentuximab vedotin. The free antigen is also shed into serum, which complicates attempts to use it as a blood marker. How tumours lose it: Loss of CD30 at relapse after brentuximab vedotin has been reported but is not the dominant mechanism; failure is more often payload-related or driven by the microenvironment. What that costs the patient: Peripheral neuropathy, cumulative and dose-limiting, from the auristatin payload; neutropenia; and, rarely, progressive multifocal leukoencephalopathy. Unlike the B-cell antigens, CD30 blockade does not empty a whole normal compartment, so there is no equivalent of B-cell aplasia.","Lymphoma, The Hodgkin microenvironment, where the cancer cell is a minority: A classical Hodgkin lymph node is mostly not cancer. The Hodgkin and Reed-Sternberg cells are a small minority of the tissue, surrounded by T cells, eosinophils, plasma cells, macrophages and fibrosis that the tumour recruits and then uses. Their identity was only settled by picking single cells off a histological section with a micromanipulator and amplifying the immunoglobulin genes: each case gave a single clonal heavy-chain rearrangement, proving that the scattered giant cells are one clone of B-lineage origin even though they have lost almost every B-cell marker (Kuppers 1994). Because the malignant cells are so rare, bulk genomic assays on a Hodgkin biopsy mostly measure the infiltrate, which is why the 9p24.1 work needed laser capture and fluorescence in situ hybridisation rather than sequencing. Frequency: An increased number of CD68-positive macrophages, measured by immunohistochemistry in an independent cohort of 166 patients, tracked shorter progression-free survival, a higher chance of relapse after autologous transplant and shorter disease-specific survival, and outperformed the International Prognostic Score in multivariable analysis (Steidl 2010). What it changes about treatment: No test on the infiltrate is used to choose treatment. The practical consequences are methodological: a Hodgkin biopsy needs enough tissue for architecture, a core needle sample is often not enough, and interim PET rather than a molecular marker is what the treatment is adapted to.","Lymphoma, Epstein-Barr virus and its latency programmes: Epstein-Barr virus persists for life in the memory B-cell pool of almost everyone, and what it expresses while it is there decides what it can cause. In latency I only EBNA1 is made, which is enough to keep the episome but gives the immune system almost nothing to see; this is the Burkitt pattern, where the virus coexists with a MYC translocation. In latency II, EBNA1 with LMP1 and LMP2, LMP1 mimics a permanently engaged CD40 receptor and drives NF-kB; this is the Hodgkin and NK/T-cell pattern. In latency III the full set of nuclear antigens and membrane proteins is expressed and will immortalise a resting B cell outright, which is what happens when T-cell surveillance is removed, as in post-transplant lymphoproliferative disorder and HIV-associated lymphoma. The virus was found in the first place by electron microscopy of cells cultured from Burkitt lymphoma, whose geographic distribution matching holoendemic malaria had suggested a viral cause (Young and Rickinson 2004). Frequency: The share of each disease that is EBV-positive varies by subtype, by geography and by age, and this layer does not state a single figure because the published ranges are wide and cohort-dependent. What is consistent is the direction: the proportion rises with immunosuppression and with age, and endemic Burkitt lymphoma in equatorial Africa is almost uniformly positive while sporadic Burkitt lymphoma usually is not. What it changes about treatment: Reducing immunosuppression is the first treatment of post-transplant lymphoproliferative disorder, which is the only place where acting on the virus changes the plan. Plasma EBV DNA is used to monitor response in NK/T-cell lymphoma and in post-transplant disease. EBV-specific T cells are licensed for post-transplant disease after transplant failure."],"symbol":"TNFRSF8","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal monocytes: the label readouts filed under it score its expression (CD30 expression (CD30-positive)), and HPA finds the gene lineage enriched in that blood lineage at or above 25 nTPM, so medicines aimed at it clear the normal lineage too. HPA TNFRSF8: RNA tissue enhanced (adipose tissue 5 nTPM); blood lineage lineage enriched (monocytes 97 nTPM); high antibody staining in 2 normal tissues; highest cancer staining head and neck cancer (1 of 3 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (Hodgkins lymphoma, anaplastic large cell lymphoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"CD30 expression (CD30-positive) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=3904f8dd-1aef-3490-e48f-bd55f32ed67f","note":"CD30-expressing (no percentage in the label; ECHELON-2 used >= 10%)"},{"label":"Human Protein Atlas TNFRSF8 tissue","url":"https://www.proteinatlas.org/ENSG00000120949-TNFRSF8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas TNFRSF8 pathology","url":"https://www.proteinatlas.org/ENSG00000120949-TNFRSF8/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000120949 associations","url":"https://platform.opentargets.org/target/ENSG00000120949/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11923","ensembl":"ENSG00000120949","uniprot":"P28908","entrez":"943","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Duerkop et al, Cell, 1992, \"Molecular cloning and expression of a new member of the nerve growth factor receptor family that is characteristic for Hodgkin's disease\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1310894/","biology":"Signals via TRAF proteins to NF-κB; shed soluble CD30 is a serum marker. Sparse normal expression outside activated T and B cells.","whereFound":["Classical Hodgkin lymphoma (~100%)","Anaplastic large-cell lymphoma","Peripheral T-cell lymphoma (subset)","Primary mediastinal B-cell lymphoma","Embryonal carcinoma"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"hodgkin-lymphoma","pct":100,"measure":"IHC; CD30 is a defining feature of Hodgkin Reed-Sternberg cells","source":"https://doi.org/10.1182/blood-2012-10-461848","note":"Hu 2013 (Blood); classical Hodgkin lymphoma is CD30-positive by definition"},{"cancerId":"dlbcl","pct":14,"measure":"IHC, CD30 in 903 de novo DLBCL","source":"https://doi.org/10.1182/blood-2012-10-461848","note":"Hu 2013; CD30-positive DLBCL had better outcome and a distinct gene-expression signature"}]},{"id":"cd33","kind":"target","name":"CD33","aka":[],"tldr":"CD33 is a myeloid surface marker on the blasts of 85 to 90% of acute myeloid leukaemias and on normal myeloid cells, so drugs against it also hit healthy marrow. It is the target of gemtuzumab ozogamicin, the first ADC ever approved (2000), withdrawn in 2010 and re-approved in 2017 at a lower fractionated dose.","summary":"CD33 (Siglec-3) is a myeloid lineage marker expressed on the blasts of roughly 85 to 90 percent of acute myeloid leukaemias and on normal myeloid cells, so drugs against it hit healthy marrow as well as leukaemia. It is the antigen behind gemtuzumab ozogamicin, the first antibody-drug conjugate ever approved: approved in 2000, withdrawn in 2010 after toxicity and lack of confirmed benefit, and re-approved in 2017 at a lower fractionated dose. That history is an object lesson in ADC development, showing that dose schedule and linker stability can decide whether a valid target succeeds. Newer CD33 approaches, including bispecifics and CAR-T, still have to solve the same on-target myelosuppression. For a newcomer, CD33 is the AML surface marker on which the ADC field first learnt its lessons.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD33","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD33"}],"tags":["adc-target"],"related":["cd33-expression"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":["gemtuzumab-ozogamicin"],"companies":["actinium-pharmaceuticals","orum-therapeutics"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CD33","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal dendritic cells and monocytes and bone marrow cells and lymphoid tissue cells: the label readouts filed under it score its expression (CD33 expression (CD33-positive)), and HPA finds the gene group enriched in that blood lineage at or above 25 nTPM, so medicines aimed at it clear the normal lineage too. HPA CD33: RNA tissue enhanced (bone marrow 31 nTPM, lymphoid tissue 23 nTPM); blood lineage group enriched (dendritic cells 214 nTPM, monocytes 167 nTPM); high antibody staining in 1 normal tissue; highest cancer staining lymphoma (1 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"CD33 expression (CD33-positive) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=32fd2bb2-1cfa-4250-feb8-d7956c794e05","note":"CD33-positive"},{"label":"Human Protein Atlas CD33 tissue","url":"https://www.proteinatlas.org/ENSG00000105383-CD33/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CD33 pathology","url":"https://www.proteinatlas.org/ENSG00000105383-CD33/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105383 associations","url":"https://platform.opentargets.org/target/ENSG00000105383/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1659","ensembl":"ENSG00000105383","uniprot":"P20138","entrez":"945","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Simmons et al, J. Immunol, 1988, \"Isolation of a cDNA encoding CD33, a differentiation antigen of myeloid progenitor cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3139766/","biology":"Siglec-3; expressed on AML blasts and normal myeloid cells.","whereFound":["Acute myeloid leukaemia"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"aml","pct":"85-90","measure":"Blast surface expression","source":"https://en.wikipedia.org/wiki/CD33"}]},{"id":"cd38","kind":"target","name":"CD38","aka":[],"tldr":"CD38 is a myeloma surface enzyme and the target of daratumumab, which is now given as a quick under-the-skin injection.","summary":"CD38 is an ectoenzyme (an NADase) present on the surface of more than 95 percent of myeloma plasma cells and on a variable 60 to 80 percent of AML blasts. Antibodies against it kill myeloma cells through complement, antibody-dependent cytotoxicity and phagocytosis, and add an immunomodulatory effect by depleting CD38-positive regulatory cells. The CD38 antibodies daratumumab and isatuximab are backbone myeloma therapy from first line onward, and subcutaneous formulations (Darzalex Faspro, Sarclisa Escena) dominate because they replace long infusions with a quick injection. Open issues include CD38 downregulation after exposure, interference with blood-typing and flow-cytometry assays, and the best way to sequence CD38 antibodies with T-cell-redirecting therapies. In short, CD38 is the surface enzyme that made antibody therapy a standard part of myeloma care.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD38","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD38"},{"label":"Kataoka et al., Nat Genet 2015: integrated molecular analysis of 426 adult T-cell leukaemia/lymphoma cases","url":"https://doi.org/10.1038/ng.3415"}],"tags":["antibody-target"],"related":["cd38-expression"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["sg301","sti-6129"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma: Plasma cells and plasmablastic tumours, and a minority of T-cell and NK-cell lymphomas. In lymphoma it is a research target, not a standard one. Also on healthy cells: Plasma cells, activated lymphocytes, NK cells, and at lower levels B and T cells and myeloid cells; the Human Protein Atlas reads CD38 as group enriched across B cells, NK cells and dendritic cells. What the medicine does: CD38 is an ectoenzyme rather than a receptor, and the licensed antibodies (daratumumab, isatuximab) work through complement, antibody-dependent cytotoxicity and phagocytosis plus depletion of CD38-positive regulatory cells. There is no approved anti-CD38 indication in lymphoma; the plasmablastic and NK/T-cell settings are case series and small trials. How tumours lose it: Surface CD38 falls under anti-CD38 antibody pressure, which is the documented mechanism in myeloma and the reason retreatment works poorly. What that costs the patient: Infusion reactions, and a laboratory problem that matters in practice: anti-CD38 antibodies bind CD38 on red cells and cause a positive indirect antiglobulin test that masks alloantibodies, so the transfusion laboratory must be told before a crossmatch."],"symbol":"CD38","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal lymphoid tissue cells: HPA blood lineage group enriched at or above 25 nTPM, and 2 cell-killing or cell-finding medicines (STI-6129, ISB 2001) aim at it, so normal cells of the lineage are hit too. HPA CD38: RNA tissue enhanced (lymphoid tissue 59 nTPM); blood lineage group enriched (B-cells 10 nTPM, dendritic cells 6 nTPM, NK-cells 18 nTPM); high antibody staining in 4 normal tissues; highest cancer staining lymphoma (1 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Leukaemia); Open Targets associates it with 1 specific cancer type at or above 0.5 (plasma cell myeloma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD38 tissue","url":"https://www.proteinatlas.org/ENSG00000004468-CD38/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CD38 pathology","url":"https://www.proteinatlas.org/ENSG00000004468-CD38/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000004468 associations","url":"https://platform.opentargets.org/target/ENSG00000004468/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1667","ensembl":"ENSG00000004468","uniprot":"P28907","entrez":"952","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jackson D.G. et al, J. Immunol, 1990, \"Isolation of a cDNA encoding the human CD38 (T10) molecule, a cell surface glycoprotein with an unusual discontinuous pattern of expression during lymphocyte differentiation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2319135/","biology":"CD38 is an ectoenzyme (NADase); immunomodulatory effects arise via depletion of CD38+ regulatory cells.","whereFound":["Multiple myeloma","AML (subset)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"multiple-myeloma","pct":">95","measure":"Plasma-cell surface expression","source":"https://en.wikipedia.org/wiki/CD38"},{"cancerId":"aml","pct":"60-80","measure":"Blast expression, variable intensity","source":"https://en.wikipedia.org/wiki/CD38"}]},{"id":"entpd1","kind":"target","name":"CD39 (ENTPD1)","aka":["CD39","NTPDase-1","ectonucleoside triphosphate diphosphohydrolase 1"],"tldr":"CD39 is the first of two enzymes that turn the ATP spilt by dying tumour cells into adenosine, which sedates T cells. Blocking it keeps the ATP alarm ringing; one antibody has completed phase 2 in pancreatic cancer.","summary":"ENTPD1 (chromosome 10q24.1) catalyses the hydrolysis of nucleoside triphosphates and diphosphates, sequentially removing phosphate groups to leave nucleoside monophosphates; it is expressed primarily on activated lymphoid cells and in endothelium, and highly in placenta, lung, skeletal muscle and kidney (UniProt P49961). CD39 and CD73 together catabolise extracellular ATP into adenosine, and both, with adenosine receptors, have emerged as therapeutic targets (Allard et al. 2019, Immunol Rev). TTX-030, an anti-CD39 antibody, completed a phase 2 study with chemotherapy, with or without budigalimab, in first-line metastatic pancreatic cancer (NCT06119217).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:3363","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3363"},{"label":"UniProt P49961","url":"https://www.uniprot.org/uniprotkb/P49961/entry"},{"label":"NCBI Gene 953","url":"https://www.ncbi.nlm.nih.gov/gene/953"},{"label":"ClinicalTrials.gov NCT06119217","url":"https://clinicaltrials.gov/study/NCT06119217"}],"tags":["checkpoint-map"],"related":["cd73-adenosine","adora2a"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"ENTPD1","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:3363","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3363","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P49961","url":"https://www.uniprot.org/uniprotkb/P49961/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:3363","ensembl":"ENSG00000138185","uniprot":"P49961","entrez":"953","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Maliszewski C.R. et al, J. Immunol, 1994, \"The CD39 lymphoid cell activation antigen. Molecular cloning and structural characterization\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7930580/","biology":"The upstream ectonucleotidase of the adenosine axis; CD73 (NT5E) finishes the conversion.","whereFound":["Activated lymphoid cells, endothelium (UniProt P49961)","Pancreatic cancer trial of TTX-030 (NCT06119217)"],"targetClass":"enzyme","prevalence":[]},{"id":"cd3d","kind":"target","name":"CD3D","aka":["CD3 delta subunit of T-cell receptor complex","T-cell surface glycoprotein CD3 delta chain","CD3DELTA","CD3-DELTA","T3D"],"tldr":"CD3D (T-cell surface glycoprotein CD3 delta chain) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma, Multiple myeloma, Leukaemia and 5 more.","summary":"Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.85, genetic association 0.00, clinical 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1673","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1673"},{"label":"UniProt P04234","url":"https://www.uniprot.org/uniprotkb/P04234/entry"},{"label":"NCBI Gene 915","url":"https://www.ncbi.nlm.nih.gov/gene/915"},{"label":"Ensembl ENSG00000167286","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167286"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma","leukaemia","lung-cancer","neuroendocrine","dlbcl","follicular-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CD3D","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1673","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1673","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P04234","url":"https://www.uniprot.org/uniprotkb/P04234/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000167286","url":"https://platform.opentargets.org/target/ENSG00000167286/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: small cell lung carcinoma 0.56, neuroendocrine neoplasm 0.56, acute lymphoblastic leukaemia 0.58, diffuse large B-cell lymphoma 0.58, plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.61 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CD3D: RNA tissue enriched (lymphoid tissue 809 nTPM); blood lineage lineage enriched (T-cells 1,630 nTPM); no normal tissue stained high. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma, Leukaemia, Lung cancer (all types), Neuroendocrine tumours); Open Targets associates it with 5 specific cancer types at or above 0.5 (plasma cell myeloma, diffuse large B-cell lymphoma, follicular lymphoma, acute lymphoblastic leukemia, small cell lung carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CD3D tissue","url":"https://www.proteinatlas.org/ENSG00000167286-CD3D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167286 associations","url":"https://platform.opentargets.org/target/ENSG00000167286/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1673","ensembl":"ENSG00000167286","uniprot":"P04234","entrez":"915","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: van den Elsen et al, Nature, 1984, \"Isolation of cDNA clones encoding the 20K T3 glycoprotein of human T-cell receptor complex\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6095101/","biology":"Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signalling pathways. In addition of this role of signal transduction in T-cell activation, CD3D plays an essential role in thymocyte differentiation. Indeed, participates in correct intracellular TCR-CD3 complex assembly and surface expression. Location: Cell membrane (UniProt). Locus 11q23.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Leukaemia: Open Targets association 0.58 with leukaemia (MONDO_0005059)","Lung cancer: Open Targets association 0.56 with lung cancer (MONDO_0008903)","Neuroendocrine tumours: Open Targets association 0.56 with neuroendocrine neoplasm (MONDO_0019496)","Diffuse large B-cell lymphoma: Open Targets association 0.58 with diffuse large B-cell lymphoma (MONDO_0018905)"],"targetClass":"other","prevalence":[]},{"id":"cd3g","kind":"target","name":"CD3G","aka":["CD3 gamma subunit of T-cell receptor complex","T-cell surface glycoprotein CD3 gamma chain","CD3-GAMMA","CD3GAMMA"],"tldr":"CD3G (T-cell surface glycoprotein CD3 gamma chain) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma, Multiple myeloma, Leukaemia and 5 more.","summary":"Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.43, genetic association 0.00, clinical 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1675","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1675"},{"label":"UniProt P09693","url":"https://www.uniprot.org/uniprotkb/P09693/entry"},{"label":"NCBI Gene 917","url":"https://www.ncbi.nlm.nih.gov/gene/917"},{"label":"Ensembl ENSG00000160654","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160654"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma","leukaemia","lung-cancer","neuroendocrine","dlbcl","follicular-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CD3G","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1675","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1675","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09693","url":"https://www.uniprot.org/uniprotkb/P09693/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000160654","url":"https://platform.opentargets.org/target/ENSG00000160654/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: small cell lung carcinoma 0.56, neuroendocrine neoplasm 0.56, acute lymphoblastic leukaemia 0.57, diffuse large B-cell lymphoma 0.59, plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.61 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CD3G: RNA tissue enriched (lymphoid tissue 88 nTPM); blood lineage lineage enriched (T-cells 242 nTPM); high antibody staining in 2 normal tissues; highest cancer staining thyroid cancer (1 of 3 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma, Leukaemia, Lung cancer (all types), Neuroendocrine tumours); Open Targets associates it with 5 specific cancer types at or above 0.5 (plasma cell myeloma, diffuse large B-cell lymphoma, follicular lymphoma, acute lymphoblastic leukemia, small cell lung carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CD3G tissue","url":"https://www.proteinatlas.org/ENSG00000160654-CD3G/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000160654 associations","url":"https://platform.opentargets.org/target/ENSG00000160654/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1675","ensembl":"ENSG00000160654","uniprot":"P09693","entrez":"917","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Krissansen G.W. et al, EMBO J, 1986, \"Primary structure of the T3 gamma subunit of the T3/T cell antigen receptor complex deduced from cDNA sequences: evolution of the T3 gamma and delta subunits\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2944745/","biology":"Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signalling pathways. In addition to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface. Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G. Location: Cell membrane (UniProt). Locus 11q23.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Leukaemia: Open Targets association 0.58 with leukaemia (MONDO_0005059)","Lung cancer: Open Targets association 0.56 with lung cancer (MONDO_0008903)","Neuroendocrine tumours: Open Targets association 0.56 with neuroendocrine neoplasm (MONDO_0019496)","Diffuse large B-cell lymphoma: Open Targets association 0.59 with diffuse large B-cell lymphoma (MONDO_0018905)"],"targetClass":"other","prevalence":[]},{"id":"cd40","kind":"target","name":"CD40","aka":["TNFRSF5","CD40 molecule","Bp50","p50"],"tldr":"CD40 sits on the cells that teach T cells what to attack. Agonist antibodies press it to turn cold tumours hot; the strongest signals so far are in pancreatic cancer with chemotherapy.","summary":"CD40 (chromosome 20q13.12) is the receptor for CD40 ligand (TNFSF5/CD40LG) and transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells; it is expressed in B cells and in primary carcinomas (UniProt P25942). On activation, CD40 licenses dendritic cells to promote antitumour T-cell activation and re-educates macrophages to destroy tumour stroma; numerous agonist antibodies have been tolerable, with mild to moderate transient cytokine release, antitumour activity in melanoma, and major regressions in pancreatic cancer and mesothelioma with chemotherapy (Vonderheide 2020, Annu Rev Med). In the corpus, selicrelumab's intratumoural study ended with the end of drug development (NCT03892525) and mitazalimab is entering a phase 2/3 study with chemotherapy (NCT07437287).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:11919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11919"},{"label":"UniProt P25942","url":"https://www.uniprot.org/uniprotkb/P25942/entry"},{"label":"NCBI Gene 958","url":"https://www.ncbi.nlm.nih.gov/gene/958"},{"label":"Vonderheide 2020, Annu Rev Med (Europe PMC)","url":"https://europepmc.org/article/MED/31412220"}],"tags":["checkpoint-map"],"related":["cd28","macrophage"],"cancers":["pancreatic","melanoma"],"sections":[],"technologies":["cd40-agonists"],"targets":[],"drugs":["selicrelumab","mitazalimab"],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"CD40","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:11919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11919","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P25942","url":"https://www.uniprot.org/uniprotkb/P25942/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:11919","ensembl":"ENSG00000101017","uniprot":"P25942","entrez":"958","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stamenkovic et al, EMBO J, 1989, \"A B-lymphocyte activation molecule related to the nerve growth factor receptor and induced by cytokines in carcinomas\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2475341/","biology":"A TNF-receptor-superfamily member on antigen-presenting cells; the target of the CD40 agonist technology.","whereFound":["B cells and primary carcinomas (UniProt P25942)","Dendritic cells and macrophages, per Vonderheide 2020","Pancreatic cancer trials of CD40 agonists"],"targetClass":"surface-antigen","prevalence":[]},{"id":"cd44","kind":"target","name":"CD44","aka":["CD44 molecule (IN blood group)","CD44 antigen","MC56","Pgp1","PGP-1","CD44R","HCELL","CSPG8","Hermes-1","CDw44","HUTCH-1","HUTCH-I","ECM-III","H-CAM","MIC4","MDU2","MDU3"],"tldr":"CD44 (CD44 antigen) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer, Ovarian cancer, Colorectal cancer and 5 more.","summary":"Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment. Participates thereby in a wide variety of cellular functions including the activation, recirculation and homing of T-lymphocytes, haematopoiesis, inflammation and response to bacterial infection. Engages, through its ectodomain, extracellular matrix components such as hyaluronan/HA, collagen, growth factors, cytokines or proteases and serves as a platform for signal transduction by assembling, via its cytoplasmic domain, protein complexes containing receptor kinases and membrane proteases.\n\nCIViC holds 17 clinical evidence items and 1 assertion across 9 variants, naming Cisplatin, RG7356 and Docetaxel.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1681","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1681"},{"label":"UniProt P16070","url":"https://www.uniprot.org/uniprotkb/P16070/entry"},{"label":"NCBI Gene 960","url":"https://www.ncbi.nlm.nih.gov/gene/960"},{"label":"Ensembl ENSG00000026508","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000026508"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["gastric","ovarian","colorectal","head-and-neck","prostate","urothelial","cervical","hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["intravasation-ctc-survival","proteoglycans-in-cancer"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 17 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Pancreatic Carcinoma; Squamous Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CD44","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1681","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1681","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16070","url":"https://www.uniprot.org/uniprotkb/P16070/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CD44","url":"https://civicdb.org/features/855","note":"17 evidence items, 1 assertions, 9 variants; diseases: Stomach Cancer, Ovarian Cancer, Cancer, Melanoma, Colorectal Cancer and 7 more (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CD44: RNA tissue enhanced (salivary gland 470 nTPM); high antibody staining in 20 normal tissues; highest cancer staining head and neck cancer (3 of 3 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Ovarian cancer, Colorectal cancer, Head and neck squamous cell carcinoma, Prostate cancer, Bladder & urothelial cancer, Cervical cancer and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CD44 tissue","url":"https://www.proteinatlas.org/ENSG00000026508-CD44/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000026508 associations","url":"https://platform.opentargets.org/target/ENSG00000026508/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1681","ensembl":"ENSG00000026508","uniprot":"P16070","entrez":"960","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stamenkovic et al, Cell, 1989, \"A lymphocyte molecule implicated in lymph node homing is a member of the cartilage link protein family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2466575/","biology":"Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment. Participates thereby in a wide variety of cellular functions including the activation, recirculation and homing of T-lymphocytes, haematopoiesis, inflammation and response to bacterial infection. Engages, through its ectodomain, extracellular matrix components such as hyaluronan/HA, collagen, growth factors, cytokines or proteases and serves as a platform for signal transduction by assembling, via its cytoplasmic domain, protein complexes containing receptor kinases and membrane proteases. Such effectors include PKN2, the RhoGTPases RAC1 and RHOA, Rho-kinases and phospholipase C that coordinate signalling pathways promoting calcium mobilisation and actin-mediated cytoskeleton reorganisation essential for cell migration and adhesion. Upon interaction with LGALS9 ligand, activates downstream signalling components including LCK, ERK and MAPK to promotes NK cell activation. Location: Cell membrane; Cell projection, microvillus; Secreted (UniProt). Locus 11p13 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease","Colorectal cancer: CIViC evidence names this disease","Head and neck squamous cell carcinoma: CIViC evidence names this disease","Prostate cancer: CIViC evidence names this disease","Bladder & urothelial cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"cd47","kind":"target","name":"CD47","aka":[],"tldr":"CD47 is the 'don't eat me' signal: it binds SIRP-alpha on macrophages to stop them engulfing the cell, and over 90% of AML blasts and large B-cell lymphoma cells display it. Blocking it should let macrophages eat tumour cells, but red cells carry CD47 too, so anaemia is built in, and the lead antibody magrolimab was dropped after failed trials.","summary":"CD47 is the 'don't eat me' signal: it binds SIRPα on macrophages to inhibit phagocytosis, and tumour cells display it broadly, with more than 90 percent of AML blasts and DLBCL cells carrying it. Blocking CD47 should let macrophages engulf tumour cells, particularly when combined with an opsonising antibody such as rituximab or with azacitidine. Because CD47 is also ubiquitous on red cells, anaemia is the built-in on-target toxicity. Magrolimab, the lead antibody, was discontinued after failed trials in MDS and AML (ENHANCE), with excess deaths. The macrophage checkpoint concept persists through SIRPα-targeted agents and bispecifics designed to spare red cells and lower haematological toxicity. For a newcomer: it looked like a promising immune brake on macrophages, but the first drug against it failed.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD47","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD47"},{"label":"Advani et al., N Engl J Med 2018: CD47 blockade with Hu5F9-G4 and rituximab in 22 patients with non-Hodgkin lymphoma","url":"https://doi.org/10.1056/NEJMoa1807315"}],"tags":["checkpoint","innate","failed-so-far"],"related":[],"cancers":["aml","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":["cd47-blockade"],"targets":[],"drugs":["peluntamig","spevatamig"],"companies":[],"institutions":[],"pathways":["cd47-sirpa"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma: Lymphoma cells, as on most tumour cells; it is a signal that says do not eat me rather than a lineage marker. Also on healthy cells: Nearly everything, and red cells most of all. CD47 density on an erythrocyte is how a macrophage decides not to clear it, which is the whole problem with the class. What the medicine does: Blocking the CD47-SIRPa interaction releases the macrophage brake so that an opsonising antibody such as rituximab can be acted on. In a phase 1b study of 22 patients with relapsed or refractory non-Hodgkin lymphoma, 95% of whom had rituximab-refractory disease, Hu5F9-G4 with rituximab gave an objective response in 50% (Advani 2018). How tumours lose it: Not applicable: there is no approved CD47 agent in lymphoma and no established acquired-resistance literature. What that costs the patient: On-target anaemia, because the drug removes the same signal from red cells. The dosing strategy that made the class tolerable is a low priming dose that clears the oldest red cells first, followed by higher maintenance doses."],"symbol":"CD47","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: the record's class is immune checkpoint. HPA CD47: RNA low tissue specificity; high antibody staining in 5 normal tissues; highest cancer staining ovarian cancer (6 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD47 tissue","url":"https://www.proteinatlas.org/ENSG00000196776-CD47/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q08722","url":"https://www.uniprot.org/uniprotkb/Q08722/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000196776 associations","url":"https://platform.opentargets.org/target/ENSG00000196776/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1682","ensembl":"ENSG00000196776","uniprot":"Q08722","entrez":"961","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Campbell I.G. et al, Cancer Res, 1992, \"An ovarian tumor marker with homology to vaccinia virus contains an IgV-like region and multiple transmembrane domains\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1394148/","biology":"Binds SIRPα on macrophages to inhibit phagocytosis; ubiquitous on red cells, causing anaemia.","whereFound":["Broadly on tumour cells"],"targetClass":"checkpoint","prevalence":[{"cancerId":"aml","pct":">90","measure":"Surface expression on blasts","source":"https://en.wikipedia.org/wiki/CD47","note":"Magrolimab discontinued"},{"cancerId":"dlbcl","pct":">90","measure":"Surface expression","source":"https://en.wikipedia.org/wiki/CD47"}]},{"id":"cd52","kind":"target","name":"CD52","aka":[],"tldr":"CD52 is a small protein on nearly all lymphocytes and the target of alemtuzumab, a profoundly immunosuppressive antibody once used in CLL and now mostly in transplant conditioning, T-cell leukaemia and multiple sclerosis.","summary":"Alemtuzumab (Campath, 2001 for fludarabine-refractory CLL; 2007 first line, CAM307) depletes B and T cells by CDC/ADCC. Its CLL indication was withdrawn commercially in 2012 when it was repositioned for MS (Lemtrada), but it remains available through a programme and is standard in T-prolymphocytic leukaemia (~90% response), in reduced-intensity and haploidentical transplant conditioning, and for GVHD prevention. CMV reactivation and prolonged lymphopenia limit it.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/CD52","links":[{"label":"CAM307 (JCO 2007)","url":"https://doi.org/10.1200/JCO.2007.12.9098"},{"label":"Kataoka et al., Nat Genet 2015: integrated molecular analysis of 426 adult T-cell leukaemia/lymphoma cases","url":"https://doi.org/10.1038/ng.3415"}],"tags":["gap-fill"],"related":[],"cancers":["cll","peripheral-t-cell-lymphoma","non-hodgkin-lymphoma"],"sections":[],"technologies":["monoclonal-antibody","allogeneic-hsct"],"targets":[],"drugs":["alemtuzumab","allo-647"],"companies":["sanofi"],"institutions":[],"pathways":[],"terms":["adcc"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-hillmen-j-clin-oncol"],"journals":[],"dependsOn":[],"notes":["Lymphoma: Chronic lymphocytic leukaemia, T-cell prolymphocytic leukaemia and most peripheral T-cell lymphomas, at near-universal and very high surface density. Also on healthy cells: Normal B and T lymphocytes, monocytes, macrophages, eosinophils and dendritic cells, and the epithelium of the male reproductive tract. What the medicine does: CD52 is a tiny glycopeptide of 12 amino acids anchored to the membrane by a glycosylphosphatidylinositol tail, present at extremely high density, which makes it an efficient complement-fixing target. Alemtuzumab is the antibody; in lymphoma it is reserved for T-cell disease where little else works. How tumours lose it: Loss of the glycosylphosphatidylinositol anchor removes the antigen without touching the gene, and CD52-negative escape has been described after alemtuzumab in T-cell disease. What that costs the patient: The most profound lymphopenia of any antibody used in lymphoma, with CD4 counts that can stay low for a year or more, and with it cytomegalovirus reactivation, Pneumocystis pneumonia and fungal infection. Prophylaxis and viral monitoring are not optional with this drug."],"symbol":"CD52","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (ALLO-647) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA CD52: RNA tissue enriched (epididymis 34,114 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (B-cell chronic lymphocytic leukemia). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD52 tissue","url":"https://www.proteinatlas.org/ENSG00000169442-CD52/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CD52 pathology","url":"https://www.proteinatlas.org/ENSG00000169442-CD52/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169442 associations","url":"https://platform.opentargets.org/target/ENSG00000169442/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1804","ensembl":"ENSG00000169442","uniprot":"P31358","entrez":"1043","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xia M.-Q. et al, Eur. J. Immunol, 1991, \"Characterization of the CAMPATH-1 (CDw52) antigen: biochemical analysis and cDNA cloning reveal an unusually small peptide backbone\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1711975/","biology":"GPI-anchored 12-amino-acid glycopeptide of unknown function on lymphocytes, monocytes and the male reproductive tract; extremely high surface density makes it an efficient complement-fixing target.","whereFound":["CLL, T-PLL, PTCL (near-universal)","Normal B and T lymphocytes, monocytes"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"cll","pct":100,"measure":"Surface CD52 on essentially all B and T lymphocytes (Campath label); CLL cells uniformly CD52-positive","source":"https://www.accessdata.fda.gov/drugsatfda_docs/label/2007/103948s5070lbl.pdf","note":"IHC survey of 294 haematologic neoplasms: vast majority of CLL/SLL positive (Rodig 2006, doi:10.1158/1078-0432.CCR-06-1275)"},{"cancerId":"peripheral-t-cell-lymphoma","pct":92.3,"measure":"Flow cytometry, surface CD52 in PTCL-NOS (12 of 13); ATLL 94.1%, CTCL 87.5%, ALCL 50%, NK/T 25%","source":"https://doi.org/10.1111/j.1365-2141.2009.07606.x","note":"Small series; paraffin IHC found most PTCL-NOS negative (Rodig 2006), so test each case before alemtuzumab"}]},{"id":"cd58","kind":"target","name":"CD58","aka":["CD58 molecule","Lymphocyte function-associated antigen 3","LFA3"],"tldr":"CD58 (Lymphocyte function-associated antigen 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma and Diffuse large B-cell lymphoma.","summary":"Ligand of the T-lymphocyte CD2 glycoprotein. This interaction is important in mediating thymocyte interactions with thymic epithelial cells, antigen-independent and -dependent interactions of T-lymphocytes with target cells and antigen-presenting cells and the T-lymphocyte rosetting with erythrocytes. In addition, the LFA-3/CD2 interaction may prime response by both the CD2+ and LFA-3+ cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1688","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1688"},{"label":"UniProt P19256","url":"https://www.uniprot.org/uniprotkb/P19256/entry"},{"label":"NCBI Gene 965","url":"https://www.ncbi.nlm.nih.gov/gene/965"},{"label":"Ensembl ENSG00000116815","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116815"},{"label":"Sakata-Yanagimoto et al., Nat Genet 2014: somatic RHOA G17V in angioimmunoblastic T-cell lymphoma","url":"https://doi.org/10.1038/ng.2872"},{"label":"Palomero et al., Nat Genet 2014: recurrent mutations in epigenetic regulators, RHOA and FYN in peripheral T-cell lymphoma","url":"https://doi.org/10.1038/ng.2873"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["non-hodgkin-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["epigenetic-reprogramming","clonal-haematopoiesis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, RHOA G17V and the epigenetic mutations of T-follicular-helper lymphoma: A single substitution, G17V, in the small GTPase RHOA produces a protein that does not bind GTP and that blocks the wild-type protein as well. It is specific to the tumour cell, whereas the TET2 mutations that accompany it are found in non-tumour haematopoietic cells too, which places the TET2 lesion earlier, in the stem cell, and makes this lymphoma a disease that grows out of clonal haematopoiesis. Frequency: RHOA G17V in 68% of angioimmunoblastic T-cell lymphoma samples, with every G17V case also carrying a TET2 mutation (Sakata-Yanagimoto 2014); independently, in 22 of 35 angioimmunoblastic cases, 67%, and 8 of 44 peripheral T-cell lymphoma not otherwise specified, 18%, alongside recurrent TET2, DNMT3A and IDH2 mutations and less frequent FYN, ATM, B2M and CD58 lesions (Palomero 2014). What it changes about treatment: Not through an approved test. The hypomethylating agents are used in this disease on the strength of the TET2 and DNMT3A biology rather than on a mutation result, and azacitidine-containing regimens have shown activity in T-follicular-helper histology specifically."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CD58","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1688","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1688","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P19256","url":"https://www.uniprot.org/uniprotkb/P19256/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CD58","url":"https://civicdb.org/features/859","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen CD58","url":"https://www.intogen.org/search?gene=CD58","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CD58: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P19256","url":"https://www.uniprot.org/uniprotkb/P19256/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CD58","url":"https://civicdb.org/features/859","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen CD58","url":"https://www.intogen.org/search?gene=CD58","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CD58 tissue","url":"https://www.proteinatlas.org/ENSG00000116815-CD58/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116815 associations","url":"https://platform.opentargets.org/target/ENSG00000116815/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1688","ensembl":"ENSG00000116815","uniprot":"P19256","entrez":"965","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wallner B.P. et al, J. Exp. Med, 1987, \"Primary structure of lymphocyte function-associated antigen 3 (LFA-3). The ligand of the T lymphocyte CD2 glycoprotein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3309127/","biology":"Ligand of the T-lymphocyte CD2 glycoprotein. This interaction is important in mediating thymocyte interactions with thymic epithelial cells, antigen-independent and -dependent interactions of T-lymphocytes with target cells and antigen-presenting cells and the T-lymphocyte rosetting with erythrocytes. In addition, the LFA-3/CD2 interaction may prime response by both the CD2+ and LFA-3+ cells. Location: Cell membrane (UniProt). Locus 1p13.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (NHL)","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"cd7","kind":"target","name":"CD7","aka":[],"tldr":"A T-cell surface marker kept on most T-cell leukaemias; CAR-T cells against it must be engineered not to kill each other, and they have produced remissions in T-ALL where nothing else worked.","summary":"CD7 is expressed on ~95% of T-ALL and T-lymphoblastic lymphoma, some NK/T lymphomas and ~30% of AML. CD7 CAR-T requires fratricide prevention (CD7 knockout, protein expression blockers or naturally selected CD7-negative T cells) and causes T-cell aplasia, so it is used as a bridge to allogeneic transplant. Trials in China (Peking University, Hebei Yanda) reported 90%+ complete remission in relapsed T-ALL (NEJM 2022, universal donor-derived CAR-T), and WU-CART-007 (allogeneic, US) received breakthrough status. Also a target for the ADC and for imaging in T-cell lymphoma.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/CD7","links":[{"label":"Donor-derived CD7 CAR-T (NEJM 2022)","url":"https://doi.org/10.1056/NEJMoa2117013"}],"tags":["gap-fill"],"related":[],"cancers":["all-leukemia","peripheral-t-cell-lymphoma","aml"],"sections":[],"technologies":["car-t","allogeneic-cell-therapy","allogeneic-hsct"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct05885464"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["The share of peripheral T-cell lymphomas retaining CD7 is not well characterised; CD7 is frequently lost in mature T-cell neoplasms and retained in a subset of NK/T lymphomas."],"symbol":"CD7","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:1695","ensembl":"ENSG00000173762","uniprot":"P09564","entrez":"924","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aruffo et al, EMBO J, 1987, \"Molecular cloning of two CD7 (T-cell leukemia antigen) cDNAs by a COS cell expression system\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3501369/","biology":"Ig-superfamily transmembrane glycoprotein on thymocytes, mature T and NK cells; ligand is SECTM1/K12; co-stimulatory role in early T-cell development.","whereFound":["T-ALL / T-LBL (~95%)","Extranodal NK/T-cell lymphoma, some PTCL","AML (~30%, shorter survival)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"all-leukemia","pct":">99","measure":"Flow cytometry, median % CD7+ blasts in 49 diagnostic T-ALL samples (incl. 14 ETP-ALL); stable at relapse and during chemotherapy","source":"https://doi.org/10.1182/bloodadvances.2017009928","note":"T-ALL/T-LBL only (~15% of ALL); B-ALL is CD7-negative"},{"cancerId":"aml","pct":30,"measure":"Flow cytometry, CD7 on leukaemic blasts (approximately 30% of AML patients)","source":"https://doi.org/10.1016/j.ymthe.2018.10.001","note":"CD7+ AML carries a worse prognosis"}]},{"id":"cd70","kind":"target","name":"CD70","aka":[],"tldr":"CD70 is a protein normally only on activated immune cells, but permanently switched on in kidney cancer and some leukaemias.","summary":"CD70 is the TNF-family ligand for CD27, normally expressed only transiently on activated immune cells, but permanently switched on in clear-cell RCC and a range of haematologic malignancies with minimal normal expression. It is found in 80-90% of clear-cell RCC by IHC and on blasts and leukaemic stem cells in 30-50% of AML, as well as in lymphomas. Allogeneic CD70 CAR-T (ALLO-316) has shown responses in RCC, a notable result because solid tumours have resisted CAR-T. An advantage of the target is that CD70-directed cells may also deplete alloreactive host T cells, which helps off-the-shelf products persist. Durability of response and safety in AML are open. The simple version is an immune-cell protein that kidney cancer keeps switched on, offering a target for donor-derived CAR-T.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD70","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD70"}],"tags":["car-t-target"],"related":[],"cancers":["rcc","aml"],"sections":[],"technologies":[],"targets":[],"drugs":["cusatuzumab","adi-270"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CD70","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal T-cells and lymphoid tissue cells: HPA blood lineage group enriched at or above 25 nTPM, and 1 cell-killing or cell-finding medicine (ADI-270) aim at it, so normal cells of the lineage are hit too. HPA CD70: RNA tissue enhanced (lymphoid tissue 3 nTPM); blood lineage group enriched (B-cells 24 nTPM, T-cells 44 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD70 tissue","url":"https://www.proteinatlas.org/ENSG00000125726-CD70/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CD70 pathology","url":"https://www.proteinatlas.org/ENSG00000125726-CD70/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000125726 associations","url":"https://platform.opentargets.org/target/ENSG00000125726/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11937","ensembl":"ENSG00000125726","uniprot":"P32970","entrez":"970","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Goodwin R.G. et al, Cell, 1993, \"Molecular and biological characterization of a ligand for CD27 defines a new family of cytokines with homology to tumor necrosis factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8387892/","biology":"CD70 is the TNF-family ligand for CD27.","whereFound":["Clear-cell RCC","AML","Lymphomas"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"rcc","pct":"80-90","measure":"Clear-cell, IHC","source":"https://en.wikipedia.org/wiki/CD70"},{"cancerId":"aml","pct":"30-50","measure":"Blasts and leukaemic stem cells","source":"https://en.wikipedia.org/wiki/CD70"}]},{"id":"cd73-adenosine","kind":"target","name":"CD73 / adenosine axis","aka":[],"tldr":"CD73 is an enzyme on tumour and immune cells that converts AMP into adenosine, which switches off T and natural killer cells through A2A and A2B receptors. Oleclumab (anti-CD73) with durvalumab slowed progression in a phase 2 lung cancer trial and quemliclustat is in phase 3 in pancreatic cancer, but A2A blockers gave only modest signals and several were dropped.","summary":"CD39 converts extracellular ATP to AMP and CD73 (NT5E) converts AMP to adenosine, which suppresses T and NK cells via A2A/A2B receptors; hypoxia drives the axis. Oleclumab (anti-CD73) plus durvalumab improved PFS in the phase 2 COAST trial (stage III NSCLC) but the phase 3 PACIFIC-9 result is pending; quemliclustat (CD73 inhibitor) is in phase 3 in pancreatic cancer (PRISM-1); A2A antagonists (ciforadenant, etrumadenant, taminadenant) gave modest single-agent signals in RCC and prostate cancer and several were discontinued. CD39 antibodies (TTX-030) and uliledlimab continue in trials.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/5%27-nucleotidase","links":[{"label":"COAST (JCO 2022)","url":"https://doi.org/10.1200/JCO.22.00227"}],"tags":["gap-fill"],"related":[],"cancers":["pancreatic","nsclc","tnbc","rcc","prostate"],"sections":[],"technologies":["checkpoint-inhibitor","monoclonal-antibody"],"targets":[],"drugs":["ak119","mavrostobart"],"companies":["astrazeneca","gilead"],"institutions":[],"pathways":["pd1-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-herbst-j-clin-oncol"],"journals":[],"dependsOn":[],"notes":["Prevalence is not well characterised: CD73 expression is continuous and scored by cutoff-dependent IHC or multiplex assays (NSCLC n=642, Inoue 2017, doi:10.18632/oncotarget.14434; TNBC n=122, Buisseret 2018, doi:10.1093/annonc/mdx730), which report prognostic associations of high expression rather than a positivity rate, and no trial has selected patients on CD73."],"symbol":"NT5E","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"many-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA NT5E: RNA tissue enhanced (cervix 106 nTPM); blood lineage group enriched (B-cells 33 nTPM, T-cells 31 nTPM); high antibody staining in 21 normal tissues; highest cancer staining colorectal cancer (10 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma, Lung cancer (all types), Breast cancer (all types), Renal cell carcinoma, Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NT5E tissue","url":"https://www.proteinatlas.org/ENSG00000135318-NT5E/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P21589","url":"https://www.uniprot.org/uniprotkb/P21589/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000135318 associations","url":"https://platform.opentargets.org/target/ENSG00000135318/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8021","ensembl":"ENSG00000135318","uniprot":"P21589","entrez":"4907","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Misumi et al, Eur. J. Biochem, 1990, \"Primary structure of human placental 5'-nucleotidase and identification of the glycolipid anchor in the mature form\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2129526/","biology":"Ecto-5'-nucleotidase anchored by GPI; produces adenosine that binds Gs-coupled A2A/A2B receptors, raising cAMP/PKA in lymphocytes and blunting TCR signalling, cytokine release and cytotoxicity; also promotes Treg and MDSC function.","whereFound":["Pancreatic cancer (high CD73)","NSCLC (especially KRAS/STK11-mutant)","TNBC, ovarian, colorectal cancer","Tregs, MDSCs and endothelium in the microenvironment"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"immune","measure":"Immune-cell target (CD73 and adenosine on tumour and immune cells; tumour expression varies and is measured in trials): expressed on immune cells rather than on the tumour, so patient selection rests on the cancer type and, in trials, on PD-L1 or immune biomarkers."}]},{"id":"cd74","kind":"target","name":"CD74","aka":["CD74 molecule","HLA class II histocompatibility antigen gamma chain","DHLAG"],"tldr":"CD74 (HLA class II histocompatibility antigen gamma chain) is a gene. The public catalogues list it as a drug target and a fusion partner, and an approved or late-stage drug is recorded against it. Tied to Lung cancer and Non-small-cell lung cancer.","summary":"Plays a critical role in MHC class II antigen processing by stabilising peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF. Binds to the peptide-binding site of MHC class II alpha/beta heterodimers forming an alpha-beta-CLIP complex, thereby preventing the loading of antigenic peptides to the MHC class II complex until its release by HLA-DM in the endosome.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.96, clinical 0.89).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1697","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1697"},{"label":"UniProt P04233","url":"https://www.uniprot.org/uniprotkb/P04233/entry"},{"label":"NCBI Gene 972","url":"https://www.ncbi.nlm.nih.gov/gene/972"},{"label":"Ensembl ENSG00000019582","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000019582"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.89; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CD74","role":["drug-target","fusion-partner"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1697","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1697","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P04233","url":"https://www.uniprot.org/uniprotkb/P04233/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000019582","url":"https://platform.opentargets.org/target/ENSG00000019582/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.68, lung cancer 0.70 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CD74: RNA tissue enhanced (lymphoid tissue 4,925 nTPM); blood lineage group enriched (B-cells 28,193 nTPM, dendritic cells 23,966 nTPM, monocytes 16,175 nTPM); high antibody staining in 8 normal tissues; highest cancer staining endometrial cancer (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (non-small cell lung carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P04233","url":"https://www.uniprot.org/uniprotkb/P04233/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Human Protein Atlas CD74 tissue","url":"https://www.proteinatlas.org/ENSG00000019582-CD74/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000019582 associations","url":"https://platform.opentargets.org/target/ENSG00000019582/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1697","ensembl":"ENSG00000019582","uniprot":"P04233","entrez":"972","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Claesson et al, Proc. Natl. Acad. Sci. U.S.A, 1983, \"cDNA clone for the human invariant gamma chain of class II histocompatibility antigens and its implications for the protein structure\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6324166/","biology":"Plays a critical role in MHC class II antigen processing by stabilising peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF. Binds to the peptide-binding site of MHC class II alpha/beta heterodimers forming an alpha-beta-CLIP complex, thereby preventing the loading of antigenic peptides to the MHC class II complex until its release by HLA-DM in the endosome. Stabilises the conformation of mature CTSL by binding to its active site and serving as a chaperone to help maintain a pool of mature enzyme in endocytic compartments and extracellular space of antigen-presenting cells (APCs). Has antiviral activity by stymieing the endosomal entry of Ebola virus and coronaviruses, including SARS-CoV-2. Disrupts cathepsin-mediated Ebola virus glycoprotein processing, which prevents viral fusion and entry. Location: Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus, trans-Golgi network; Endosome (UniProt). Locus 5q33.1 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.70 with lung cancer (MONDO_0008903)","Non-small-cell lung cancer: Open Targets association 0.68 with non-small cell lung carcinoma (MONDO_0005233)"],"targetClass":"other","prevalence":[]},{"id":"cd79a","kind":"target","name":"CD79A","aka":["CD79a molecule","B-cell antigen receptor complex-associated protein alpha chain","MB-1","Ig-alpha","MB1","IGAlpha"],"tldr":"CD79A (B-cell antigen receptor complex-associated protein alpha chain) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer, Non-Hodgkin lymphoma and Skin cancer.","summary":"Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalisation of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1698","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1698"},{"label":"UniProt P11912","url":"https://www.uniprot.org/uniprotkb/P11912/entry"},{"label":"NCBI Gene 973","url":"https://www.ncbi.nlm.nih.gov/gene/973"},{"label":"Ensembl ENSG00000105369","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105369"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","non-hodgkin-lymphoma","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CD79A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1698","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1698","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11912","url":"https://www.uniprot.org/uniprotkb/P11912/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105369","url":"https://platform.opentargets.org/target/ENSG00000105369/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: colorectal cancer 0.53, non-Hodgkin lymphoma 0.51, skin cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1698","ensembl":"ENSG00000105369","uniprot":"P11912","entrez":"973","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sakaguchi et al, EMBO J, 1988, \"B lymphocyte lineage-restricted expression of mb-1, a gene with CD3-like structural properties\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2463161/","biology":"Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalisation of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src-family tyrosine kinases. Represses BCR signalling during development of immature B-cells. Location: Cell membrane (UniProt). Locus 19q13.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)"],"targetClass":"other","prevalence":[]},{"id":"cd79b","kind":"target","name":"CD79b","aka":[],"tldr":"Part of the B-cell receptor found on nearly all B-cell lymphomas; the target of the ADC polatuzumab vedotin and a frequently mutated gene in brain and testicular lymphoma.","summary":"CD79b (Igβ) pairs with CD79a to form the signalling subunit of the B-cell receptor. It is expressed on >95% of B-cell lymphomas and rapidly internalises, making it an ideal ADC target: polatuzumab vedotin (approved 2019; POLARIX first line 2023) is the only approved agent. CD79B Y196 mutations drive chronic active BCR signalling in ABC-DLBCL (MCD/C5 cluster), PCNSL and testicular lymphoma, and predict BTK-inhibitor sensitivity. CD79b CAR-T and bispecifics are in trials.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/CD79B","links":[{"label":"Polatuzumab (Blood 2015)","url":"https://doi.org/10.1182/blood-2015-06-651380"},{"label":"Davis et al., Nature 2010: chronic active B-cell receptor signalling in diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/nature08638"}],"tags":["gap-fill"],"related":[],"cancers":["dlbcl","follicular-lymphoma","primary-cns-lymphoma","mantle-cell-lymphoma","non-hodgkin-lymphoma"],"sections":[],"technologies":["adc"],"targets":[],"drugs":["polatuzumab-vedotin"],"companies":[],"institutions":[],"pathways":["bcr-signalling","inflammation-nfkb"],"terms":["cell-of-origin"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-viardot-blood"],"journals":[],"dependsOn":[],"notes":["Lymphoma: More than 95% of diffuse large B-cell lymphomas express it, and so do follicular and mantle cell lymphoma. It is half of the signalling heterodimer of the B-cell receptor, with CD79a. Also on healthy cells: Normal B cells, and strongly: the Human Protein Atlas reads CD79B at 1,489 nTPM in the B-cell lineage, the highest of any lymphoma surface target. What the medicine does: CD79b is part of the receptor complex that is continuously internalised, which makes it an unusually good address for a conjugate: polatuzumab vedotin delivers monomethyl auristatin E inside the cell. Nothing is tested before it is given, because expression is close to universal. How tumours lose it: No established escape route is published for CD79b in the way it is for CD19 and CD20. That is a gap in the literature rather than evidence that the antigen is never lost. What that costs the patient: Peripheral neuropathy and neutropenia from the auristatin payload rather than from the antigen, plus the same B-cell depletion as the rest of this group when it is given with rituximab.","Lymphoma, Chronic active B-cell receptor signalling, and BTK: The B-cell receptor normally signals only when it meets antigen. In activated B-cell-like lymphoma it signals continuously: the receptors cluster in the membrane and diffuse slowly, exactly as they do in an antigen-stimulated normal B cell, and knocking down IgM, Ig-kappa, CD79A, CD79B or BTK kills the cell. The signal runs CD79a/b to SYK to BTK to PLC-gamma-2 to protein kinase C beta to the CARD11-BCL10-MALT1 complex and into NF-kB. Mutations of the ITAM module of CD79B raise surface receptor expression and blunt LYN, the feedback brake (Davis 2010). Frequency: Mutations of the first ITAM tyrosine of CD79B in 18% of activated B-cell-like cases, frequent in that subtype and rare in other diffuse large B-cell lymphomas, absent from Burkitt and MALT lymphoma; activating CARD11 mutations in roughly 10% of activated B-cell-like cases (Davis 2010). What it changes about treatment: This is the one pathway in lymphoma where the biology picks the drug today. BTK inhibitors are standard in mantle cell lymphoma and Waldenstrom macroglobulinaemia and have activity in primary CNS lymphoma and in the MCD genetic subtype of diffuse large B-cell lymphoma; they do little in germinal-centre disease."],"symbol":"CD79B","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal B-cells and lymphoid tissue cells: HPA blood lineage lineage enriched at or above 25 nTPM, and 1 cell-killing or cell-finding medicine (Polatuzumab vedotin) aim at it, so normal cells of the lineage are hit too. HPA CD79B: RNA tissue enriched (lymphoid tissue 248 nTPM); blood lineage lineage enriched (B-cells 1,489 nTPM); high antibody staining in 4 normal tissues; highest cancer staining lymphoma (1 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD79B tissue","url":"https://www.proteinatlas.org/ENSG00000007312-CD79B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CD79B pathology","url":"https://www.proteinatlas.org/ENSG00000007312-CD79B/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000007312 associations","url":"https://platform.opentargets.org/target/ENSG00000007312/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1699","ensembl":"ENSG00000007312","uniprot":"P40259","entrez":"974","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mueller B.S. et al, Eur. J. Immunol, 1992, \"Cloning and sequencing of the cDNA encoding the human homologue of the murine immunoglobulin-associated protein B29\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1534761/","biology":"Transmembrane Ig-superfamily protein with an ITAM motif; together with CD79a it couples antigen binding to SYK/BTK/PI3K signalling and mediates BCR internalisation.","whereFound":["DLBCL (>95% expression; ~20% CD79B mutation in ABC subtype)","Follicular and mantle cell lymphoma (expression)","Primary CNS lymphoma (CD79B mutation ~60%)","CLL (lower expression)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"dlbcl","pct":"95","measure":"surface expression","source":"https://doi.org/10.1182/blood-2015-06-651380"},{"cancerId":"primary-cns-lymphoma","pct":"50-70","measure":"CD79B mutation"}]},{"id":"cd80","kind":"target","name":"CD80 (B7-1)","aka":["B7-1","B7.1","CD28LG","CD80 molecule"],"tldr":"B7-1 is a molecule on antigen-presenting cells that gives T cells their go signal through CD28, but it also feeds the CTLA-4 brake and can pair with PD-L1. Anti-PD-L1 antibodies such as sugemalimab and adebrelimab are built to stop PD-L1 binding both PD-1 and B7-1.","summary":"CD80 (chromosome 3q13.33), also called B7-1, is an immunoglobulin-superfamily costimulatory ligand that acts as the primary auxiliary signal for naive T cells by binding CD28, activating NF-kappa-B and MAPK and raising cytokine production and, through PI3K/AKT, T-cell glucose metabolism; it also binds CTLA-4, a decoy receptor that blocks CD28-mediated priming, and regulates PD-L1/PD-1 interactions (UniProt P33681). In OnCo it appears in the mechanism of the PD-L1 antibodies adebrelimab and sugemalimab, which block PD-L1 binding to PD-1 and to B7-1, and in the mechanism of ipilimumab, which stops CTLA-4 from outcompeting CD28 for B7 ligands during priming.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:1700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1700"},{"label":"UniProt P33681","url":"https://www.uniprot.org/uniprotkb/P33681/entry"},{"label":"NCBI Gene 941","url":"https://www.ncbi.nlm.nih.gov/gene/941"}],"tags":["wave5-target"],"related":["adebrelimab","sugemalimab","tqb2450","ipilimumab","cd28","ctla4","pdl1"],"cancers":["sclc","nsclc","peripheral-t-cell-lymphoma"],"sections":[],"technologies":["checkpoint-inhibitor"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["pd1-checkpoint","cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"CD80","role":["immune-checkpoint"],"sources":[],"specificitySources":[],"hgnc":"HGNC:1700","ensembl":"ENSG00000121594","uniprot":"P33681","entrez":"941","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Freeman G.J. et al, J. Immunol, 1989, \"B7, a new member of the Ig superfamily with unique expression on activated and neoplastic B cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2794510/","biology":"The same ligand serves an accelerator (CD28) and a brake (CTLA-4), which is why CTLA-4 blockade increases T-cell priming. PD-L1 antibodies that also free B7-1 restore CD28 costimulation as well as lifting the PD-1 brake.","whereFound":["Dendritic cells, macrophages and activated B cells","Small-cell lung cancer (adebrelimab) and NSCLC and peripheral T-cell lymphoma (sugemalimab) populations"],"targetClass":"checkpoint","prevalence":[]},{"id":"cd83","kind":"target","name":"CD83","aka":["CD83 molecule","CD83 antigen","HB15","BL11"],"tldr":"CD83 (CD83 antigen) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Transmembrane glycoprotein predominantly found on the surface of many immune cells including dendritic cells or lymphocytes that plays various roles in immune response regulation. Plays an essential role in CD4(+) T-selection, differentiation and stability by regulating the activity of the major E3 ubiquitin ligase responsible for controlling MHCII trafficking MARCHF8. Also inhibits MARCHF1 association with MHCII or CD86 to prevent their ubiquitination and subsequent degradation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1703","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1703"},{"label":"UniProt Q01151","url":"https://www.uniprot.org/uniprotkb/Q01151/entry"},{"label":"NCBI Gene 9308","url":"https://www.ncbi.nlm.nih.gov/gene/9308"},{"label":"Ensembl ENSG00000112149","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112149"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CD83","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1703","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1703","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01151","url":"https://www.uniprot.org/uniprotkb/Q01151/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CD83","url":"https://civicdb.org/features/7351","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CD83: RNA tissue enhanced (bone marrow 198 nTPM); high antibody staining in 1 normal tissue; highest cancer staining lymphoma (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CD83 tissue","url":"https://www.proteinatlas.org/ENSG00000112149-CD83/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000112149 associations","url":"https://platform.opentargets.org/target/ENSG00000112149/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1703","ensembl":"ENSG00000112149","uniprot":"Q01151","entrez":"9308","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhou L.-J. et al, J. Immunol, 1992, \"A novel cell-surface molecule expressed by human interdigitating reticulum cells, Langerhans cells, and activated lymphocytes is a new member of the Ig superfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1378080/","biology":"Transmembrane glycoprotein predominantly found on the surface of many immune cells including dendritic cells or lymphocytes that plays various roles in immune response regulation. Plays an essential role in CD4(+) T-selection, differentiation and stability by regulating the activity of the major E3 ubiquitin ligase responsible for controlling MHCII trafficking MARCHF8. Also inhibits MARCHF1 association with MHCII or CD86 to prevent their ubiquitination and subsequent degradation. In addition, acts as an important modulator of protective responses against acute infections. Location: Membrane (UniProt). Locus 6p23 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"cd86","kind":"target","name":"CD86 (B7-2)","aka":["B7-2","B7.2","CD28LG2","CD86 molecule"],"tldr":"CD86 is one of the two B7 molecules on antigen-presenting cells that either wake a T cell up (through CD28) or calm it down (through CTLA-4). Ipilimumab works by stopping CTLA-4 from hogging CD86 and CD80.","summary":"CD86 (chromosome 3q13.33) is a costimulatory molecule of the immunoglobulin superfamily on the surface of antigen-presenting cells that acts as the primary auxiliary signal augmenting the MHC/TCR signal in naive T cells by binding the constitutively expressed CD28 receptor (UniProt P42081). CTLA-4 binds CD80 and CD86 with considerably stronger affinity than CD28 does and acts as a decoy receptor (UniProt P16410), which is the interaction anti-CTLA-4 antibodies release.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:1705","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1705"},{"label":"UniProt P42081","url":"https://www.uniprot.org/uniprotkb/P42081/entry"},{"label":"NCBI Gene 942","url":"https://www.ncbi.nlm.nih.gov/gene/942"}],"tags":["checkpoint-map"],"related":["cd80","ctla4","cd28","ipilimumab"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["pd1-checkpoint","cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"CD86","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:1705","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1705","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P42081","url":"https://www.uniprot.org/uniprotkb/P42081/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:1705","ensembl":"ENSG00000114013","uniprot":"P42081","entrez":"942","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Azuma et al, Nature, 1993, \"B70 antigen is a second ligand for CTLA-4 and CD28\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7694153/","biology":"Shares the CD28/CTLA-4 ligand role with CD80; no drug in the corpus binds CD86 directly.","whereFound":["Antigen-presenting cells (UniProt P42081)"],"targetClass":"checkpoint","prevalence":[]},{"id":"cd96","kind":"target","name":"CD96","aka":["TACTILE","CD96 molecule","T-cell surface protein tactile"],"tldr":"CD96 sits on T and NK cells and binds CD155, the same molecule TIGIT reads on tumour cells. It is the least tested of that family; one blocking antibody is in phase 2 platform trials in lung cancer.","summary":"CD96 (chromosome 3q13.13) may mediate adhesive interactions of activated T and NK cells in the late phase of the immune response, promoting NK-cell adhesion to targets through PVR (CD155) on the target cell; it is expressed on normal T-cell lines and clones and at very low levels on activated B cells (UniProt P40200). CD155 is the ligand for the co-stimulatory receptor CD226 and the co-inhibitory receptors TIGIT and CD96 (Kučan Brlić et al. 2017). GSK6097608, an anti-CD96 antibody, is being tested in phase 2 platform studies with dostarlimab in non-small-cell lung cancer (NCT05565378, NCT03739710).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:16892","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16892"},{"label":"UniProt P40200","url":"https://www.uniprot.org/uniprotkb/P40200/entry"},{"label":"NCBI Gene 10225","url":"https://www.ncbi.nlm.nih.gov/gene/10225"},{"label":"ClinicalTrials.gov NCT05565378","url":"https://clinicaltrials.gov/study/NCT05565378"}],"tags":["checkpoint-map"],"related":["pvr","tigit","dostarlimab"],"cancers":["nsclc"],"sections":[],"technologies":["checkpoint-inhibitor","tigit-blockade"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"CD96","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:16892","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16892","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P40200","url":"https://www.uniprot.org/uniprotkb/P40200/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:16892","ensembl":"ENSG00000153283","uniprot":"P40200","entrez":"10225","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang P.L. et al, J. Immunol, 1992, \"Identification and molecular cloning of tactile. A novel human T cell activation antigen that is a member of the Ig gene superfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1313846/","biology":"An immunoglobulin-superfamily receptor of the TIGIT/CD226 axis competing for CD155.","whereFound":["T cells and NK cells (UniProt P40200)","Non-small-cell lung cancer platform trials of GSK6097608"],"targetClass":"checkpoint","prevalence":[]},{"id":"cda","kind":"target","name":"CDA","aka":["cytidine deaminase","Cytidine deaminase"],"tldr":"CDA (Cytidine deaminase) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms and Myelodysplastic syndromes / neoplasms.","summary":"This enzyme scavenges exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.00, clinical 0.84).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1712","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1712"},{"label":"UniProt P32320","url":"https://www.uniprot.org/uniprotkb/P32320/entry"},{"label":"NCBI Gene 978","url":"https://www.ncbi.nlm.nih.gov/gene/978"},{"label":"Ensembl ENSG00000158825","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158825"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","mds"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.84. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDA","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1712","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1712","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P32320","url":"https://www.uniprot.org/uniprotkb/P32320/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000158825","url":"https://platform.opentargets.org/target/ENSG00000158825/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: myelodysplastic syndrome 0.51, myeloproliferative neoplasm 0.53, leukaemia 0.53 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CDA: RNA tissue enhanced (bone marrow 183 nTPM, esophagus 108 nTPM, liver 81 nTPM); blood lineage lineage enriched (granulocytes 1,240 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (myelodysplastic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CDA tissue","url":"https://www.proteinatlas.org/ENSG00000158825-CDA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000158825 associations","url":"https://platform.opentargets.org/target/ENSG00000158825/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1712","ensembl":"ENSG00000158825","uniprot":"P32320","entrez":"978","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kuhn et al, Biochem. Biophys. Res. Commun, 1993, \"Cloning of a functional cDNA for human cytidine deaminase (CDD) and its use as a marker of monocyte/macrophage differentiation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8422236/","biology":"This enzyme scavenges exogenous and endogenous cytidine and 2'-deoxycytidine for UMP synthesis. Locus 1p36.12 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.53 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.53 with myeloproliferative neoplasm (MONDO_0020076)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.51 with myelodysplastic syndrome (MONDO_0018881)"],"targetClass":"enzyme","prevalence":[]},{"id":"cdc37","kind":"target","name":"CDC37","aka":["cell division cycle 37, HSP90 cochaperone","Hsp90 co-chaperone Cdc37","P50CDC37"],"tldr":"CDC37 (Hsp90 co-chaperone Cdc37) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilisation and promotion of their activity. Inhibits HSP90AA1 ATPase activity.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.99, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1735","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1735"},{"label":"UniProt Q16543","url":"https://www.uniprot.org/uniprotkb/Q16543/entry"},{"label":"NCBI Gene 11140","url":"https://www.ncbi.nlm.nih.gov/gene/11140"},{"label":"Ensembl ENSG00000105401","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105401"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDC37","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1735","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1735","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16543","url":"https://www.uniprot.org/uniprotkb/Q16543/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105401","url":"https://platform.opentargets.org/target/ENSG00000105401/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1735","ensembl":"ENSG00000105401","uniprot":"Q16543","entrez":"11140","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stepanova et al, Genes Dev, 1996, \"Mammalian p50Cdc37 is a protein kinase-targeting subunit of Hsp90 that binds and stabilizes Cdk4\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8666233/","biology":"Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilisation and promotion of their activity. Inhibits HSP90AA1 ATPase activity. Location: Cytoplasm (UniProt). Locus 19p13.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"cdc50a","kind":"target","name":"CDC50A","aka":["cell division cycle 50 P4-ATPase accessory subunit A","Cell cycle control protein 50A","FLJ10856","C6orf67","TMEM30A"],"tldr":"CDC50A (Cell cycle control protein 50A) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Accessory component of a P4-ATPase flippase complex which catalyses the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signalling molecules. The beta subunit may assist in binding of the phospholipid substrate.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming R-CHOP Regimen.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16667","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16667"},{"label":"UniProt Q9NV96","url":"https://www.uniprot.org/uniprotkb/Q9NV96/entry"},{"label":"NCBI Gene 55754","url":"https://www.ncbi.nlm.nih.gov/gene/55754"},{"label":"Ensembl ENSG00000112697","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112697"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDC50A","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16667","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16667","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NV96","url":"https://www.uniprot.org/uniprotkb/Q9NV96/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDC50A","url":"https://civicdb.org/features/13180","note":"2 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TMEM30A: RNA low tissue specificity; no normal tissue stained high; highest cancer staining melanoma (7 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TMEM30A tissue","url":"https://www.proteinatlas.org/ENSG00000112697-TMEM30A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000112697 associations","url":"https://platform.opentargets.org/target/ENSG00000112697/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16667","ensembl":"ENSG00000112697","uniprot":"Q9NV96","entrez":"55754","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mungall A.J. et al, Nature, 2003, \"The DNA sequence and analysis of human chromosome 6\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14574404/","biology":"Accessory component of a P4-ATPase flippase complex which catalyses the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signalling molecules. The beta subunit may assist in binding of the phospholipid substrate. Required for the proper folding, assembly and ER to Golgi exit of the ATP8A2:CDC50A flippase complex. ATP8A2:CDC50A may be involved in regulation of neurite outgrowth, and, reconstituted to liposomes, predomiminantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE). The ATP8A1:CDC50A flippase complex seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the plasma membrane. Location: Membrane; Cell membrane; Golgi apparatus; Cytoplasmic vesicle, secretory vesicle membrane (UniProt). Locus 6q14.1 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"cdc73","kind":"target","name":"CDC73","aka":["cell division cycle 73","Parafibromin","parafibromin","C1orf28","HRPT2","HRPT1"],"tldr":"CDC73 (Parafibromin) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Endometrial cancer, Colorectal cancer and 1 more.","summary":"Tumour suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency.\n\nOpen Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes genetic literature 0.86, literature 0.93, genetic association 0.76, somatic mutation 0.89, animal model 0.50). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16783","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16783"},{"label":"UniProt Q6P1J9","url":"https://www.uniprot.org/uniprotkb/Q6P1J9/entry"},{"label":"NCBI Gene 79577","url":"https://www.ncbi.nlm.nih.gov/gene/79577"},{"label":"Ensembl ENSG00000134371","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134371"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","endometrial","colorectal","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDC73","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:16783","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16783","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6P1J9","url":"https://www.uniprot.org/uniprotkb/Q6P1J9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000134371","url":"https://platform.opentargets.org/target/ENSG00000134371/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: colorectal cancer 0.52, breast cancer 0.65, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen CDC73","url":"https://www.intogen.org/search?gene=CDC73","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:16783","ensembl":"ENSG00000134371","uniprot":"Q6P1J9","entrez":"79577","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sood et al, Genomics, 2001, \"Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11318611/","biology":"Tumour suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in haematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. Location: Nucleus (UniProt). Locus 1q31.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)"],"targetClass":"oncogene","prevalence":[]},{"id":"cdca7","kind":"target","name":"CDCA7","aka":["cell division cycle associated 7","Cell division cycle-associated protein 7","FLJ14736","JPO1"],"tldr":"CDCA7 (Cell division cycle-associated protein 7) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis. Also functions as a critical cofactor for the chromatin remodeler HELLS, facilitating its recruitment to specific genomic regions to maintain DNA methylation patterns and heterochromatin integrity.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14628","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14628"},{"label":"UniProt Q9BWT1","url":"https://www.uniprot.org/uniprotkb/Q9BWT1/entry"},{"label":"NCBI Gene 83879","url":"https://www.ncbi.nlm.nih.gov/gene/83879"},{"label":"Ensembl ENSG00000144354","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144354"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDCA7","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:14628","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14628","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BWT1","url":"https://www.uniprot.org/uniprotkb/Q9BWT1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000144354","url":"https://platform.opentargets.org/target/ENSG00000144354/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: prostate cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:14628","ensembl":"ENSG00000144354","uniprot":"Q9BWT1","entrez":"83879","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Prescott J.E. et al, J. Biol. Chem, 2001, \"A novel c-Myc-responsive gene, JPO1, participates in neoplastic transformation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11598121/","biology":"Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesis. Also functions as a critical cofactor for the chromatin remodeler HELLS, facilitating its recruitment to specific genomic regions to maintain DNA methylation patterns and heterochromatin integrity. Recognises hemimethylated CpG within nucleosomes where it recruits HELLS to remodel chromatin and facilitate access of de novo DNA methyltransferases to heterochromatic regions, enabling proper establishment of DNA methylation patterns. May play a role as transcriptional regulator. Location: Nucleus; Cytoplasm; Chromosome (UniProt). Locus 2q31.1 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)"],"targetClass":"transcription","prevalence":[]},{"id":"cdh1","kind":"target","name":"CDH1","aka":["cadherin 1","Cadherin-1","uvomorulin","CD324"],"tldr":"CDH1 (Cadherin-1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer, Breast cancer, Ovarian cancer and 5 more.","summary":"Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells.\n\nCIViC holds 8 clinical evidence items and 0 assertions across 6 variants, naming Crizotinib, Pazopanib, Foretinib and Palbociclib Regimen. Open Targets scores its association with cancer at 0.90 (direct and indirect evidence; datatypes genetic literature 0.82, affected pathway 0.54, literature 1.00, genetic association 0.83, somatic mutation 0.96). IntOGen calls it a driver in 18 cohorts (3 activating, 14 loss-of-function), covering Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cutaneous Squamous Cell Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Oesophageal Adenocarcinoma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1748","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1748"},{"label":"UniProt P12830","url":"https://www.uniprot.org/uniprotkb/P12830/entry"},{"label":"NCBI Gene 999","url":"https://www.ncbi.nlm.nih.gov/gene/999"},{"label":"Ensembl ENSG00000039068","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000039068"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["gastric","breast-cancer","ovarian","endometrial","prostate","urothelial","skin-cancer","esophageal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["gastric-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 14 cohorts; CIViC holds 8 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDH1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1748","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1748","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12830","url":"https://www.uniprot.org/uniprotkb/P12830/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDH1","url":"https://civicdb.org/features/888","note":"8 evidence items, 0 assertions, 6 variants; diseases: Breast Cancer, Cholangiocarcinoma, Stomach Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000039068","url":"https://platform.opentargets.org/target/ENSG00000039068/associations","note":"association with cancer (MONDO_0004992) 0.90; per-cancer scores at or above 0.5: colorectal cancer 0.55, gastric cancer 0.84, prostate cancer 0.67, ovarian cancer 0.72, endometrial cancer 0.71, skin cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen CDH1","url":"https://www.intogen.org/search?gene=CDH1","note":"driver in 18 cohorts (Act 3, LoF 14); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CDH1: RNA tissue enhanced (parathyroid gland 186 nTPM); blood lineage lineage enriched (dendritic cells 5 nTPM); high antibody staining in 26 normal tissues; highest cancer staining colorectal cancer (12 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Breast cancer (all types), Ovarian cancer, Endometrial cancer, Prostate cancer, Bladder & urothelial cancer, Skin cancer (all types) and more); Open Targets associates it with 13 specific cancer types at or above 0.5 (CDH1-related diffuse gastric and lobular breast cancer syndrome, Familial gastric cancer, ovarian cancer, endometrial carcinoma, hereditary breast carcinoma, breast adenocarcinoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P12830","url":"https://www.uniprot.org/uniprotkb/P12830/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDH1","url":"https://civicdb.org/features/888","note":"8 evidence items, 0 assertions, 6 variants; diseases: Breast Cancer, Cholangiocarcinoma, Stomach Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen CDH1","url":"https://www.intogen.org/search?gene=CDH1","note":"driver in 18 cohorts (Act 3, LoF 14); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CDH1 tissue","url":"https://www.proteinatlas.org/ENSG00000039068-CDH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000039068 associations","url":"https://platform.opentargets.org/target/ENSG00000039068/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1748","ensembl":"ENSG00000039068","uniprot":"P12830","entrez":"999","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mansouri et al, Differentiation, 1988, \"Characterization and chromosomal localization of the gene encoding the human cell adhesion molecule uvomorulin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3263290/","biology":"Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells. Promotes organisation of radial actin fibre structure and cellular response to contractile forces, via its interaction with AMOTL2 which facilitates anchoring of radial actin fibres to CDH1 junction complexes at the cell membrane. Plays a role in the early stages of desmosome cell-cell junction formation via facilitating the recruitment of DSG2 and DSP to desmosome plaques. Has a potent invasive suppressor role. Location: Cell junction, adherens junction; Cell membrane; Endosome; Golgi apparatus, trans-Golgi network (UniProt). Locus 16q22.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.84 with gastric cancer (MONDO_0001056); CIViC evidence names this disease","Breast cancer: Open Targets association 0.82 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.72 with ovarian cancer (MONDO_0008170)","Endometrial cancer: Open Targets association 0.71 with endometrial cancer (MONDO_0011962)","Prostate cancer: Open Targets association 0.67 with prostate cancer (MONDO_0008315)","Bladder & urothelial cancer: IntOGen driver in 2 cohorts (BLCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"cdh10","kind":"target","name":"CDH10","aka":["cadherin 10","Cadherin-10"],"tldr":"CDH10 (Cadherin-10) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma, Endometrial cancer and Non-small-cell lung cancer.","summary":"Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types.\n\nIntOGen calls it a driver in 6 cohorts (3 activating, 2 loss-of-function), covering Lung Adenocarcinoma, Lung Squamous Cell Carcinoma, Pancreatic Adenocarcinoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1749","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1749"},{"label":"UniProt Q9Y6N8","url":"https://www.uniprot.org/uniprotkb/Q9Y6N8/entry"},{"label":"NCBI Gene 1008","url":"https://www.ncbi.nlm.nih.gov/gene/1008"},{"label":"Ensembl ENSG00000040731","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000040731"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pancreatic","endometrial","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDH10","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1749","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1749","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6N8","url":"https://www.uniprot.org/uniprotkb/Q9Y6N8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CDH10","url":"https://www.intogen.org/search?gene=CDH10","note":"driver in 6 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1749","ensembl":"ENSG00000040731","uniprot":"Q9Y6N8","entrez":"1008","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kools et al, FEBS Lett, 1999, \"The human cadherin-10 gene: complete coding sequence, predominant expression in the brain, and mapping on chromosome 5p13-14\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10386616/","biology":"Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Location: Cell membrane (UniProt). Locus 5p14.2-p14.1 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Non-small-cell lung cancer: IntOGen driver in 4 cohorts (LUAD, LUSC)"],"targetClass":"oncogene","prevalence":[]},{"id":"cdh11","kind":"target","name":"CDH11","aka":["cadherin 11","Cadherin-11","CAD11"],"tldr":"CDH11 (Cadherin-11) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Oesophageal cancer, Gastric & gastro-oesophageal junction cancer, Colorectal cancer and 5 more.","summary":"Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Required for proper focal adhesion assembly.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.52, somatic mutation 0.90). IntOGen calls it a driver in 7 cohorts (5 activating, 2 loss-of-function), covering Cholangiocarcinoma, Colon Adenocarcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma, Lung Squamous Cell Carcinoma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1750","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1750"},{"label":"UniProt P55287","url":"https://www.uniprot.org/uniprotkb/P55287/entry"},{"label":"NCBI Gene 1009","url":"https://www.ncbi.nlm.nih.gov/gene/1009"},{"label":"Ensembl ENSG00000140937","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140937"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["esophageal","gastric","colorectal","hcc","breast-cancer","skin-cancer","biliary-tract-cancer","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDH11","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1750","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1750","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55287","url":"https://www.uniprot.org/uniprotkb/P55287/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140937","url":"https://platform.opentargets.org/target/ENSG00000140937/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: gastric cancer 0.55, oesophageal cancer 0.54, skin cancer 0.51, breast cancer 0.53, biliary tract cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen CDH11","url":"https://www.intogen.org/search?gene=CDH11","note":"driver in 7 cohorts (Act 5, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1750","ensembl":"ENSG00000140937","uniprot":"P55287","entrez":"1009","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Suzuki et al, Cell Regul, 1991, \"Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2059658/","biology":"Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Required for proper focal adhesion assembly. Involved in the regulation of cell migration. Location: Cell membrane (UniProt). Locus 16q21 (HGNC).","whereFound":["Oesophageal cancer: Open Targets association 0.54 with oesophageal cancer (MONDO_0007576); IntOGen driver in 2 cohorts (ESCA)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.55 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Colorectal cancer: IntOGen driver in 1 cohort (COAD)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)"],"targetClass":"oncogene","prevalence":[]},{"id":"cdh6","kind":"target","name":"CDH6","aka":[],"tldr":"CDH6 is an adhesion protein from kidney development that reappears on ovarian and kidney cancers.","summary":"Cadherin-6 (CDH6) is a type II cadherin and a fetal kidney marker that is overexpressed in ovarian cancer and renal cell carcinoma with low normal adult expression, the profile an ADC target needs. It is found in 65-85% of ovarian cancers, particularly high-grade serous, and 60-80% of renal cell carcinomas by IHC. Raludotatug deruxtecan (R-DXd), a CDH6 ADC with the DXd payload, is in phase 3 in platinum-resistant ovarian cancer (REJOICE-Ovarian01). The main open question is whether the DXd payload's interstitial lung disease signal and the expression threshold for benefit will hold up in a randomised setting. The simple version is an adhesion protein from kidney development that reappears on ovarian and kidney cancers, giving an ADC a clean address.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CDH6","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CDH6"}],"tags":["adc-target"],"related":[],"cancers":["ovarian","rcc"],"sections":[],"technologies":[],"targets":[],"drugs":["raludotatug-deruxtecan"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CDH6","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (Raludotatug deruxtecan) aim at the antigen, which HPA finds stained high in 2 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA CDH6: RNA tissue enhanced (blood vessel 12 nTPM, kidney 14 nTPM); high antibody staining in 2 normal tissues; highest cancer staining renal cancer (1 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Renal cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CDH6 tissue","url":"https://www.proteinatlas.org/ENSG00000113361-CDH6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CDH6 pathology","url":"https://www.proteinatlas.org/ENSG00000113361-CDH6/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113361 associations","url":"https://platform.opentargets.org/target/ENSG00000113361/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1765","ensembl":"ENSG00000113361","uniprot":"P55285","entrez":"1004","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Suzuki et al, Cell Regul, 1991, \"Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2059658/","biology":"CDH6 is a type II cadherin and a fetal kidney marker.","whereFound":["Ovarian","Renal cell carcinoma"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"ovarian","pct":"65-85","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/CDH6","note":"High-grade serous"},{"cancerId":"rcc","pct":"60-80","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/CDH6"}]},{"id":"cdk12","kind":"target","name":"CDK12","aka":["cyclin dependent kinase 12","Cyclin-dependent kinase 12","CRK7","KIAA0904","CRKRS"],"tldr":"CDK12 (Cyclin-dependent kinase 12) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer, Ovarian cancer, Breast cancer and 5 more.","summary":"Cyclin-dependent kinase that phosphorylates the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A), thereby acting as a key regulator of transcription elongation. Regulates the expression of genes involved in DNA repair and is required for the maintenance of genomic stability. Preferentially phosphorylates 'Ser-5' in CTD repeats that are already phosphorylated at 'Ser-7', but can also phosphorylate 'Ser-2'.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 4 variants, naming Olaparib, Talazoparib, Enzalutamide and Rucaparib and others. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes clinical 0.17, affected pathway 0.76, literature 0.99, genetic association 0.32, somatic mutation 0.92). IntOGen calls it a driver in 17 cohorts (2 activating, 15 loss-of-function), covering Bladder Urothelial Carcinoma, Renal Clear Cell Carcinoma, Cervical Squamous Cell Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Melanoma, Ovarian Epithelial Tumour and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24224","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24224"},{"label":"UniProt Q9NYV4","url":"https://www.uniprot.org/uniprotkb/Q9NYV4/entry"},{"label":"NCBI Gene 51755","url":"https://www.ncbi.nlm.nih.gov/gene/51755"},{"label":"Ensembl ENSG00000167258","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167258"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["prostate","ovarian","breast-cancer","urothelial","rcc","cervical","gastric","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-quigley-structural-variation-mcrpc-cell-2018","paper-mateo-genomics-lethal-prostate-diagnosis-castration-resistance-jci-2020","paper-stopsack-mcspc-genomic-alterations-outcomes-ccr-2020"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.17; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 15 cohorts; CIViC holds 9 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDK12","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:24224","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24224","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NYV4","url":"https://www.uniprot.org/uniprotkb/Q9NYV4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDK12","url":"https://civicdb.org/features/12112","note":"9 evidence items, 0 assertions, 4 variants; diseases: Prostate Cancer, Castration-resistant Prostate Carcinoma, Breast Cancer, Ovarian Serous Carcinoma, Breast Carcinoma and 1 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000167258","url":"https://platform.opentargets.org/target/ENSG00000167258/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: colorectal cancer 0.52, prostate cancer 0.67, ovarian cancer 0.58, melanoma 0.59, skin cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen CDK12","url":"https://www.intogen.org/search?gene=CDK12","note":"driver in 17 cohorts (Act 2, LoF 15); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CDK12: RNA low tissue specificity; high antibody staining in 34 normal tissues; highest cancer staining cervical cancer (12 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Ovarian cancer, Breast cancer (all types), Bladder & urothelial cancer, Renal cell carcinoma, Cervical cancer, Gastric & gastro-oesophageal junction cancer and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (prostate adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9NYV4","url":"https://www.uniprot.org/uniprotkb/Q9NYV4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDK12","url":"https://civicdb.org/features/12112","note":"9 evidence items, 0 assertions, 4 variants; diseases: Prostate Cancer, Castration-resistant Prostate Carcinoma, Breast Cancer, Ovarian Serous Carcinoma, Breast Carcinoma and 1 more (GraphQL API, CC0)"},{"label":"IntOGen CDK12","url":"https://www.intogen.org/search?gene=CDK12","note":"driver in 17 cohorts (Act 2, LoF 15); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CDK12 tissue","url":"https://www.proteinatlas.org/ENSG00000167258-CDK12/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167258 associations","url":"https://platform.opentargets.org/target/ENSG00000167258/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:24224","ensembl":"ENSG00000167258","uniprot":"Q9NYV4","entrez":"51755","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10048485/","biology":"Cyclin-dependent kinase that phosphorylates the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A), thereby acting as a key regulator of transcription elongation. Regulates the expression of genes involved in DNA repair and is required for the maintenance of genomic stability. Preferentially phosphorylates 'Ser-5' in CTD repeats that are already phosphorylated at 'Ser-7', but can also phosphorylate 'Ser-2'. Required for RNA splicing, possibly by phosphorylating SRSF1/SF2. Involved in regulation of MAP kinase activity, possibly leading to affect the response to oestrogen inhibitors. Location: Nucleus; Nucleus speckle (UniProt). Locus 17q12 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.67 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170); CIViC evidence names this disease","Breast cancer: CIViC evidence names this disease","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Cervical cancer: IntOGen driver in 1 cohort (CESC)","Prostate cancer: biallelic inactivating mutation 1-6% depending on disease state"],"targetClass":"kinase","prevalence":[{"cancerId":"prostate","pct":"1-6","measure":"Biallelic inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"cBioPortal mutation: 9 of 494, 1.8%, in prad_tcga_pan_can_atlas_2018; 1 of 477, 0.2%, in prad_cpcg_2017; 33 of 1,013, 3.3%, in prad_p1000; 24 of 424, 5.7%, in prad_mcspc_mskcc_2020; 130 of 2,260, 5.8%, in prostate_msk_2024; 88 of 1,465, 6.0%, in prad_cdk12_mskcc_2020; 26 of 444, 5.9%, in prad_su2c_2019; 6 of 114, 5.3%, in nepc_wcm_2016."}]},{"id":"cdk2","kind":"target","name":"CDK2","aka":["cyclin dependent kinase 2","Cyclin-dependent kinase 2"],"tldr":"CDK2 (Cyclin-dependent kinase 2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Triple-negative breast cancer.","summary":"Serine/threonine-protein kinase involved in the control of the cell cycle; essential for meiosis, but dispensable for mitosis. Phosphorylates CABLES1, CTNNB1, CDK2AP2, ERCC6, NBN, USP37, p53/TP53, NPM1, CDK7, RB1, BRCA2, MYC, NPAT, SUV39H1, EZH2. Triggers duplication of centrosomes and DNA.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Carboplatin and Eribulin. In OnCo, 1 product record names it (AVZO-021).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1771","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1771"},{"label":"UniProt P24941","url":"https://www.uniprot.org/uniprotkb/P24941/entry"},{"label":"NCBI Gene 1017","url":"https://www.ncbi.nlm.nih.gov/gene/1017"},{"label":"Ensembl ENSG00000123374","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123374"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["tnbc"],"sections":[],"technologies":[],"targets":[],"drugs":["avzo-021"],"companies":[],"institutions":[],"pathways":["dna-replication-licensing","sclc-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDK2","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1771","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1771","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P24941","url":"https://www.uniprot.org/uniprotkb/P24941/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDK2","url":"https://civicdb.org/features/906","note":"1 evidence items, 0 assertions, 1 variants; diseases: Triple-negative Breast Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists CDK2 among essential proteins and finds the RNA at low tissue specificity; the 1 medicine aimed at it (AVZO-021) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA CDK2: RNA low tissue specificity; no normal tissue stained high; highest cancer staining melanoma (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CDK2 tissue","url":"https://www.proteinatlas.org/ENSG00000123374-CDK2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000123374 associations","url":"https://platform.opentargets.org/target/ENSG00000123374/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1771","ensembl":"ENSG00000123374","uniprot":"P24941","entrez":"1017","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Elledge S.J. et al, EMBO J, 1991, \"A new human p34 protein kinase, CDK2, identified by complementation of a cdc28 mutation in Saccharomyces cerevisiae, is a homolog of Xenopus Eg1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1714386/","biology":"Serine/threonine-protein kinase involved in the control of the cell cycle; essential for meiosis, but dispensable for mitosis. Phosphorylates CABLES1, CTNNB1, CDK2AP2, ERCC6, NBN, USP37, p53/TP53, NPM1, CDK7, RB1, BRCA2, MYC, NPAT, SUV39H1, EZH2. Triggers duplication of centrosomes and DNA. Acts at the G1-S transition to promote the E2F transcriptional program and the initiation of DNA synthesis, and modulates G2 progression; controls the timing of entry into mitosis/meiosis by controlling the subsequent activation of cyclin B/CDK1 by phosphorylation, and coordinates the activation of cyclin B/CDK1 at the centrosome and in the nucleus. Crucial role in orchestrating a fine balance between cellular proliferation, cell death, and DNA repair in embryonic stem cells (ESCs). Activated by the CDK-activating kinase (CAK) complex consisting of CDK7, cyclin-H/CCNH and MAT1, which is a master regulator of CDK activity. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Nucleus, Cajal body; Cytoplasm; Endosome (UniProt). Locus 12q13.2 (HGNC).","whereFound":["Triple-negative breast cancer: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"cdk4-6","kind":"target","name":"CDK4/6","aka":[],"tldr":"CDK4/6 is the engine that pushes a cell to copy its DNA. Blocking it alongside hormone therapy roughly doubled the time hormone-driven breast cancer stays controlled.","summary":"CDK4 and CDK6 phosphorylate RB to release E2F and drive the G1 to S transition, so inhibiting them halts cell-cycle entry in tumours that still have functional RB. Palbociclib, ribociclib and abemaciclib with endocrine therapy are first-line standard in HR-positive HER2-negative advanced breast cancer, roughly doubling the time the disease stays controlled, and ribociclib (NATALEE) and abemaciclib (monarchE) are approved as adjuvant therapy. Cyclin D1 (CCND1) amplification occurs in 15 to 20 percent of HR-positive breast cancers but the drugs work regardless of it, and CDK4 amplification is near-universal in well- and dedifferentiated liposarcoma. Resistance through RB loss, CDK2 activation and cyclin E amplification is common, and CDK4-selective and CDK2 inhibitors are being developed to address it. CDK4/6 is the engine of cell division that hormone therapy alone could not stop.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Cyclin-dependent_kinase_4","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Cyclin-dependent_kinase_4"}],"tags":["kinase"],"related":[],"cancers":["breast-hr-positive","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":["tqb3616"],"companies":[],"institutions":[],"pathways":["p53-cell-cycle","er-signaling","bladder-cancer-signalling","breast-cancer-signalling","glioma-signalling","melanoma-signalling","nsclc-signalling","pancreatic-cancer-signalling","sclc-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CDK4, CDK6","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists CDK4 among essential proteins and finds the RNA at low tissue specificity; the 9 medicines aimed at it (TQB3616, Abemaciclib, Atirmociclib and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA CDK4: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining cervical cancer (6 of 12 high). HPA CDK6: RNA tissue enhanced (lymphoid tissue 38 nTPM); high antibody staining in 4 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Sarcomas (soft tissue, bone, GIST)); approvals of single-target medicines aimed at it also list Lung cancer (all types), not counted; Open Targets associates it with 5 specific cancer types at or above 0.5 (melanoma, cutaneous malignant, susceptibility to, 3, breast carcinoma, breast cancer, small cell lung carcinoma, familial melanoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CDK4 tissue","url":"https://www.proteinatlas.org/ENSG00000135446-CDK4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CDK6 tissue","url":"https://www.proteinatlas.org/ENSG00000105810-CDK6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000135446 associations","url":"https://platform.opentargets.org/target/ENSG00000135446/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000105810 associations","url":"https://platform.opentargets.org/target/ENSG00000105810/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Phosphorylate RB to release E2F and drive G1-S transition; cyclin D1 amplification and RB loss modulate sensitivity.","whereFound":["HR+ breast cancer","Liposarcoma (CDK4 amplification)","Mantle cell lymphoma"],"targetClass":"kinase","prevalence":[{"cancerId":"breast-hr-positive","pct":"15-20","measure":"Cyclin D1 (CCND1) amplification","source":"https://www.cbioportal.org/study/summary?id=brca_tcga_pan_can_atlas_2018","note":"Inhibitors work regardless of amplification"},{"cancerId":"sarcoma","pct":">90","measure":"Well-/dedifferentiated liposarcoma CDK4 amplification","source":"https://en.wikipedia.org/wiki/Cyclin-dependent_kinase_4"}]},{"id":"cdk5","kind":"target","name":"CDK5","aka":["cyclin dependent kinase 5","Cyclin-dependent kinase 5","PSSALRE"],"tldr":"CDK5 (Cyclin-dependent kinase 5) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Interacts with D1 and D3-type G1 cyclins. Phosphorylates SRC, NOS3, VIM/vimentin, p35/CDK5R1, MEF2A, SIPA1L1, SH3GLB1, PXN, PAK1, MCAM/MUC18, SEPT5, SYN1, DNM1, AMPH, SYNJ1, CDK16, RAC1, RHOA, CDC42, TONEBP/NFAT5, MAPT/TAU, MAP1B, histone H1, p53/TP53, HDAC1, APEX1, PTK2/FAK1, huntingtin/HTT, ATM, MAP2, NEFH and NEFM.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1774"},{"label":"UniProt Q00535","url":"https://www.uniprot.org/uniprotkb/Q00535/entry"},{"label":"NCBI Gene 1020","url":"https://www.ncbi.nlm.nih.gov/gene/1020"},{"label":"Ensembl ENSG00000164885","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164885"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDK5","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1774","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q00535","url":"https://www.uniprot.org/uniprotkb/Q00535/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDK5","url":"https://civicdb.org/features/908","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CDK5: RNA tissue enhanced (brain 75 nTPM); high antibody staining in 5 normal tissues; highest cancer staining colorectal cancer (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CDK5 tissue","url":"https://www.proteinatlas.org/ENSG00000164885-CDK5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164885 associations","url":"https://platform.opentargets.org/target/ENSG00000164885/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1774","ensembl":"ENSG00000164885","uniprot":"Q00535","entrez":"1020","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Meyerson et al, EMBO J, 1992, \"A family of human cdc2-related protein kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1639063/","biology":"Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Interacts with D1 and D3-type G1 cyclins. Phosphorylates SRC, NOS3, VIM/vimentin, p35/CDK5R1, MEF2A, SIPA1L1, SH3GLB1, PXN, PAK1, MCAM/MUC18, SEPT5, SYN1, DNM1, AMPH, SYNJ1, CDK16, RAC1, RHOA, CDC42, TONEBP/NFAT5, MAPT/TAU, MAP1B, histone H1, p53/TP53, HDAC1, APEX1, PTK2/FAK1, huntingtin/HTT, ATM, MAP2, NEFH and NEFM. Regulates several neuronal development and physiological processes including neuronal survival, migration and differentiation, axonal and neurite growth, synaptogenesis, oligodendrocyte differentiation, synaptic plasticity and neurotransmission, by phosphorylating key proteins. Negatively regulates the CACNA1B/CAV2.2 -mediated Ca(2+) release probability at hippocampal neuronal soma and synaptic terminals. Activated by interaction with CDK5R1 (p35) and CDK5R2 (p39), especially in postmitotic neurons, and promotes CDK5R1 (p35) expression in an autostimulation loop. Location: Cytoplasm; Nucleus; Cell membrane; Perikaryon (UniProt). Locus 7q36.1 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"cdk9","kind":"target","name":"CDK9","aka":["cyclin dependent kinase 9","Cyclin-dependent kinase 9","PITALRE","C-2k","CDC2L4"],"tldr":"CDK9 (Cyclin-dependent kinase 9) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma, Oesophageal cancer and Neuroblastoma.","summary":"Protein kinase involved in the regulation of transcription. Member of the cyclin-dependent kinase pair (CDK9/cyclin-T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A, SUPT5H and RDBP. This complex is inactive when in the 7SK snRNP complex form.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Dinaciclib, Alvocidib and CAN508.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1780","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1780"},{"label":"UniProt P50750","url":"https://www.uniprot.org/uniprotkb/P50750/entry"},{"label":"NCBI Gene 1025","url":"https://www.ncbi.nlm.nih.gov/gene/1025"},{"label":"Ensembl ENSG00000136807","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136807"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["hcc","esophageal","neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["myc","transcription-addiction"],"terms":[],"trials":["nct04588922"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDK9","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1780","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1780","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50750","url":"https://www.uniprot.org/uniprotkb/P50750/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDK9","url":"https://civicdb.org/features/912","note":"3 evidence items, 0 assertions, 1 variants; diseases: Neuroblastoma, Hepatocellular Carcinoma, Oesophageal Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists CDK9 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA CDK9: RNA low tissue specificity; high antibody staining in 44 normal tissues; highest cancer staining lymphoma (12 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma, Oesophageal cancer, Childhood cancers (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CDK9 tissue","url":"https://www.proteinatlas.org/ENSG00000136807-CDK9/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136807 associations","url":"https://platform.opentargets.org/target/ENSG00000136807/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1780","ensembl":"ENSG00000136807","uniprot":"P50750","entrez":"1025","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Grana et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"PITALRE, a nuclear CDC2-related protein kinase that phosphorylates the retinoblastoma protein in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8170997/","biology":"Protein kinase involved in the regulation of transcription. Member of the cyclin-dependent kinase pair (CDK9/cyclin-T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A, SUPT5H and RDBP. This complex is inactive when in the 7SK snRNP complex form. Phosphorylates EP300, MYOD1, RPB1/POLR2A and AR and the negative elongation factors DSIF and NELFE. Regulates cytokine inducible transcription networks by facilitating promoter recognition of target transcription factors (e.g. TNF-inducible RELA/p65 activation and IL-6-inducible STAT3 signalling). Location: Nucleus; Cytoplasm; Nucleus, PML body (UniProt). Locus 9q34.11 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease","Oesophageal cancer: CIViC evidence names this disease","Neuroblastoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"cdkal1","kind":"target","name":"CDKAL1","aka":["CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase","Threonylcarbamoyladenosine tRNA methylthiotransferase","FLJ20342"],"tldr":"CDKAL1 (Threonylcarbamoyladenosine tRNA methylthiotransferase) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Catalyses the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.72, animal model 0.46, genetic association 0.63).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21050","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21050"},{"label":"UniProt Q5VV42","url":"https://www.uniprot.org/uniprotkb/Q5VV42/entry"},{"label":"NCBI Gene 54901","url":"https://www.ncbi.nlm.nih.gov/gene/54901"},{"label":"Ensembl ENSG00000145996","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145996"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDKAL1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:21050","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21050","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5VV42","url":"https://www.uniprot.org/uniprotkb/Q5VV42/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000145996","url":"https://platform.opentargets.org/target/ENSG00000145996/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:21050","ensembl":"ENSG00000145996","uniprot":"Q5VV42","entrez":"54901","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mungall A.J. et al, Nature, 2003, \"The DNA sequence and analysis of human chromosome 6\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14574404/","biology":"Catalyses the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine. Location: Endoplasmic reticulum membrane (UniProt). Locus 6p22.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"cdkn1a","kind":"target","name":"CDKN1A","aka":["cyclin dependent kinase inhibitor 1A","Cyclin-dependent kinase inhibitor 1","P21","CIP1","WAF1","SDI1","CAP20","p21CIP1","p21Cip1/Waf1","p21","CDKN1"],"tldr":"CDKN1A (Cyclin-dependent kinase inhibitor 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Hepatocellular carcinoma, Colorectal cancer and 4 more.","summary":"Plays an important role in controlling cell cycle progression and DNA damage-induced G2 arrest. Involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Also involved in p53-independent DNA damage-induced G2 arrest mediated by CREB3L1 in astrocytes and osteoblasts.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 4 variants, naming Fluorouracil. Open Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes affected pathway 0.76, literature 1.00, genetic association 0.62, somatic mutation 0.80, animal model 0.53). IntOGen calls it a driver in 9 cohorts (2 activating, 7 loss-of-function), covering Bladder Urothelial Carcinoma, Chromophobe Renal Cell Carcinoma, Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1784","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1784"},{"label":"UniProt P38936","url":"https://www.uniprot.org/uniprotkb/P38936/entry"},{"label":"NCBI Gene 1026","url":"https://www.ncbi.nlm.nih.gov/gene/1026"},{"label":"Ensembl ENSG00000124762","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124762"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","hcc","colorectal","rcc","breast-cancer","retinoblastoma","chromophobe-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cell-cycle-engine-cdks","p53-cell-cycle","p53-mdm2-axis","senescence"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 7 cohorts; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDKN1A","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1784","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1784","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P38936","url":"https://www.uniprot.org/uniprotkb/P38936/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDKN1A","url":"https://civicdb.org/features/913","note":"4 evidence items, 0 assertions, 4 variants; diseases: Retinoblastoma, Colorectal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000124762","url":"https://platform.opentargets.org/target/ENSG00000124762/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: urinary bladder cancer 0.64, breast cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen CDKN1A","url":"https://www.intogen.org/search?gene=CDKN1A","note":"driver in 9 cohorts (Act 2, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CDKN1A: RNA low tissue specificity; blood lineage group enriched (B-cells 21 nTPM, dendritic cells 22 nTPM, monocytes 75 nTPM); high antibody staining in 4 normal tissues; highest cancer staining cervical cancer (7 of 11 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Hepatocellular carcinoma, Colorectal cancer, Renal cell carcinoma, Breast cancer (all types), Childhood cancers (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (urinary bladder cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P38936","url":"https://www.uniprot.org/uniprotkb/P38936/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDKN1A","url":"https://civicdb.org/features/913","note":"4 evidence items, 0 assertions, 4 variants; diseases: Retinoblastoma, Colorectal Cancer (GraphQL API, CC0)"},{"label":"IntOGen CDKN1A","url":"https://www.intogen.org/search?gene=CDKN1A","note":"driver in 9 cohorts (Act 2, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CDKN1A tissue","url":"https://www.proteinatlas.org/ENSG00000124762-CDKN1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000124762 associations","url":"https://platform.opentargets.org/target/ENSG00000124762/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1784","ensembl":"ENSG00000124762","uniprot":"P38936","entrez":"1026","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Harper J.W. et al, Cell, 1993, \"The p21 Cdk-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8242751/","biology":"Plays an important role in controlling cell cycle progression and DNA damage-induced G2 arrest. Involved in p53/TP53 mediated inhibition of cellular proliferation in response to DNA damage. Also involved in p53-independent DNA damage-induced G2 arrest mediated by CREB3L1 in astrocytes and osteoblasts. Binds to and inhibits cyclin-dependent kinase activity, preventing phosphorylation of critical cyclin-dependent kinase substrates and blocking cell cycle progression. Functions in the nuclear localisation and assembly of cyclin D-CDK4 complex and promotes its kinase activity towards RB1. At higher stoichiometric ratios, inhibits the kinase activity of the cyclin D-CDK4 complex. Location: Cytoplasm; Nucleus (UniProt). Locus 6p21.2 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.64 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 5 cohorts (BLCA)","Hepatocellular carcinoma: IntOGen driver in 3 cohorts (HCC)","Colorectal cancer: CIViC evidence names this disease","Renal cell carcinoma: IntOGen driver in 1 cohort (CHRCC)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)","Retinoblastoma: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"cdkn1b","kind":"target","name":"CDKN1B","aka":["cyclin dependent kinase inhibitor 1B","Cyclin-dependent kinase inhibitor 1B","KIP1","P27KIP1"],"tldr":"CDKN1B (Cyclin-dependent kinase inhibitor 1B) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Thyroid cancer, Prostate cancer, Breast cancer and 5 more.","summary":"Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA. Involved in G1 arrest.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Lapatinib, Cisplatin and Fluorouracil. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.73, affected pathway 0.76, literature 0.99, genetic association 0.75, somatic mutation 0.90, animal model 0.54). IntOGen calls it a driver in 12 cohorts (1 activating, 11 loss-of-function), covering Invasive Breast Carcinoma, Hepatocellular Carcinoma, Plasma Cell Myeloma, Prostate Adenocarcinoma, Small Intestinal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1785"},{"label":"UniProt P46527","url":"https://www.uniprot.org/uniprotkb/P46527/entry"},{"label":"NCBI Gene 1027","url":"https://www.ncbi.nlm.nih.gov/gene/1027"},{"label":"Ensembl ENSG00000111276","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111276"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["thyroid","prostate","breast-cancer","neuroendocrine","head-and-neck","multiple-myeloma","hcc","small-bowel"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["prostate-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 11 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDKN1B","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1785","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P46527","url":"https://www.uniprot.org/uniprotkb/P46527/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDKN1B","url":"https://civicdb.org/features/914","note":"2 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer, Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000111276","url":"https://platform.opentargets.org/target/ENSG00000111276/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: prostate cancer 0.63, thyroid cancer 0.65, neuroendocrine neoplasm 0.62, acute lymphoblastic leukaemia 0.53, non-Hodgkin lymphoma 0.56, breast cancer 0.63 (GraphQL API, CC0)"},{"label":"IntOGen CDKN1B","url":"https://www.intogen.org/search?gene=CDKN1B","note":"driver in 12 cohorts (Act 1, LoF 11); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CDKN1B: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Prostate cancer, Breast cancer (all types), Neuroendocrine tumours, Head and neck squamous cell carcinoma, Multiple myeloma, Hepatocellular carcinoma and more); Open Targets associates it with 6 specific cancer types at or above 0.5 (multiple endocrine neoplasia type 4, prostate carcinoma, hereditary neoplastic syndrome, thyroid gland carcinoma, pituitary gland adenoma, thyroid cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P46527","url":"https://www.uniprot.org/uniprotkb/P46527/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDKN1B","url":"https://civicdb.org/features/914","note":"2 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer, Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen CDKN1B","url":"https://www.intogen.org/search?gene=CDKN1B","note":"driver in 12 cohorts (Act 1, LoF 11); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CDKN1B tissue","url":"https://www.proteinatlas.org/ENSG00000111276-CDKN1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000111276 associations","url":"https://platform.opentargets.org/target/ENSG00000111276/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1785","ensembl":"ENSG00000111276","uniprot":"P46527","entrez":"1027","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Polyak et al, Cell, 1994, \"Cloning of p27Kip1, a cyclin-dependent kinase inhibitor and a potential mediator of extracellular antimitogenic signals\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8033212/","biology":"Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA. Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its phosphorylation state and/or stoichiometry. Location: Nucleus; Cytoplasm; Endosome (UniProt). Locus 12p13.1 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.65 with thyroid cancer (MONDO_0002108)","Prostate cancer: Open Targets association 0.63 with prostate cancer (MONDO_0008315); IntOGen driver in 4 cohorts (PRAD)","Breast cancer: Open Targets association 0.63 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Neuroendocrine tumours: Open Targets association 0.62 with neuroendocrine neoplasm (MONDO_0019496)","Head and neck squamous cell carcinoma: CIViC evidence names this disease","Multiple myeloma: IntOGen driver in 2 cohorts (PCM)","Prostate cancer: deep deletion 1-4% depending on disease state"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"prostate","pct":"1-4","measure":"Deep deletion","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"cBioPortal deep deletion: 20 of 489, 4.1%, in prad_tcga_pan_can_atlas_2018; 22 of 1,013, 2.2%, in prad_p1000; 13 of 424, 3.1%, in prad_mcspc_mskcc_2020; 71 of 2,260, 3.1%, in prostate_msk_2024; 52 of 1,465, 3.5%, in prad_cdk12_mskcc_2020; 13 of 444, 2.9%, in prad_su2c_2019."}]},{"id":"cdkn2a","kind":"target","name":"CDKN2A","aka":["cyclin dependent kinase inhibitor 2A","Cyclin-dependent kinase inhibitor 2A","CDK4I","p16","INK4a","MTS1","CMM2","p19","p14","INK4","p16INK4a","p19Arf","p14ARF","P16-INK4A","CAI2","CDKN2"],"tldr":"CDKN2A (Cyclin-dependent kinase inhibitor 2A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Bladder & urothelial cancer and 5 more.","summary":"Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein.\n\nCIViC holds 59 clinical evidence items and 0 assertions across 27 variants, naming Palbociclib, Trametinib, Afatinib and Bevacizumab and others. Open Targets scores its association with cancer at 0.90 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.90, literature 1.00, genetic association 0.90, somatic mutation 0.98, animal model 0.67). IntOGen calls it a driver in 70 cohorts (15 activating, 55 loss-of-function), covering Adenoid Cystic Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cholangiocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma and others. In OnCo, 1 product record names it (UroVysion Bladder Cancer Kit).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1787","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1787"},{"label":"UniProt P42771","url":"https://www.uniprot.org/uniprotkb/P42771/entry"},{"label":"NCBI Gene 1029","url":"https://www.ncbi.nlm.nih.gov/gene/1029"},{"label":"Ensembl ENSG00000147889","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147889"},{"label":"Eskelund et al., Blood 2017: TP53 mutations in 183 younger mantle cell lymphoma patients from Nordic MCL2 and MCL3","url":"https://doi.org/10.1182/blood-2017-04-779736"},{"label":"Rossi et al., Blood 2011: the genetics of Richter syndrome in 86 pathologically proven cases","url":"https://doi.org/10.1182/blood-2010-09-302174"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","lung-cancer","urothelial","head-and-neck","non-hodgkin-lymphoma","esophageal","leukaemia","ovarian","pancreatic","gallbladder","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["urovysion"],"companies":[],"institutions":[],"pathways":["bladder-cancer-signalling","cell-cycle-engine-cdks","cml-signalling","glioma-signalling","hepatocellular-carcinoma-signalling","melanoma-signalling","nsclc-signalling","pancreatic-cancer-signalling","senescence","p53-mdm2-axis","chromosomal-instability"],"terms":["cdkn2a-homozygous-deletion"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-qian-driver-genes-outcomes-resected-pancreatic-jama-oncol-2018","paper-hu-germline-mutations-pancreatic-cancer-risk-jama-2018","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-javle-biliary-ngs-cancer-2016","paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","paper-tcga-lung-squamous-nature-2012"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 18 therapies; IntOGen calls it an activating (Act) driver in 15 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 55 cohorts; CIViC holds 59 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Oropharynx Cancer; Supratentorial Ependymoma, ZFTA Fusion-positive; Ganglioglioma; Low-Grade Glioma, NOS.","Pancreatic ductal adenocarcinoma: lost by mutation or deep deletion in 37 to 48%, usually with CDKN2B and often MTAP (deep deletion in 22 to 31% of exome cohorts; cBioPortal). Loss of expression shortened overall survival (19.7 versus 24.6 months) after resection (Qian 2018), and germline CDKN2A carries the highest odds ratio of the six pancreatic risk genes (12.33; Hu 2018). MTAP co-deletion is the entry point for PRMT5-directed agents in trials.","Lung cancer: deep deletion in 15 to 20% of adenocarcinomas and 26.3% of squamous tumours, with mutation on top (cBioPortal); counting methylation and exon skipping as well, CDKN2A and RB1 were altered in 72% of squamous cancers (Cancer Genome Atlas Research Network 2012). The deletion usually takes MTAP with it, which is the entry point for the PRMT5 inhibitors in trials.","Lymphoma, TP53 loss, in mantle cell lymphoma and in Richter transformation: TP53 is the commonest route by which a lymphoma stops responding to chemotherapy, because chemotherapy kills largely by provoking a p53-dependent death. In mantle cell lymphoma it travels with blastoid morphology, a high Ki-67 and CDKN2A deletion. In Richter transformation it is one of two lesions that dominate the genetics, and the transformed clone is usually the same clone as the leukaemia rather than a second cancer. Frequency: In 183 younger mantle cell lymphoma patients from the Nordic MCL2 and MCL3 trials, TP53 mutation in 11% and TP53 deletion in 16%, with CDKN2A deletion in 20% and NOTCH1 mutation in 4%; only TP53 mutation kept its prognostic weight in multivariable analysis, with a hazard ratio of 6.2 for overall survival, a median overall survival of 1.8 years against 12.7 years for unmutated cases, and half the mutated group relapsing within a year (Eskelund 2017). In 86 cases of Richter syndrome, TP53 disruption in 47.1% and MYC abnormality in 26.2%; clonally unrelated transformations had both a longer median survival, 62.5 against 14.2 months, and less TP53 disruption, 23.1% against 60.0% (Rossi 2011). What it changes about treatment: In mantle cell lymphoma, yes in practice if not yet on any label: a TP53 mutation is the usual reason to abandon intensive cytarabine-based induction and autologous transplant and to go to a BTK inhibitor, a BCL-2 inhibitor or CAR-T instead. In Richter transformation it is the main prognostic variable, and establishing whether the large-cell clone is related to the leukaemic one changes the expected outcome more than any drug does."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDKN2A","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1787","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1787","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42771","url":"https://www.uniprot.org/uniprotkb/P42771/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDKN2A","url":"https://civicdb.org/features/14","note":"59 evidence items, 0 assertions, 27 variants; diseases: Head And Neck Squamous Cell Carcinoma, Lung Non-small Cell Carcinoma, Pancreatic Cancer, Melanoma, Cholangiocarcinoma and 20 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000147889","url":"https://platform.opentargets.org/target/ENSG00000147889/associations","note":"association with cancer (MONDO_0004992) 0.90; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.66, gastric cancer 0.58, oesophageal cancer 0.69, hepatocellular carcinoma 0.61, urinary bladder cancer 0.70, ovarian cancer 0.65 (GraphQL API, CC0)"},{"label":"IntOGen CDKN2A","url":"https://www.intogen.org/search?gene=CDKN2A","note":"driver in 70 cohorts (Act 15, LoF 55); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"lineage-antigen","distribution":"many-types","specificityNote":"Lineage antigen shared with normal T-cells: HPA finds the gene group enriched in that blood lineage, and the 1 medicine aimed at it (UroVysion Bladder Cancer Kit) act on the wild-type protein, so the normal lineage is hit too. HPA CDKN2A: RNA tissue enhanced (choroid plexus 43 nTPM, pituitary gland 36 nTPM); blood lineage group enriched (B-cells 16 nTPM, T-cells 38 nTPM); high antibody staining in 3 normal tissues; highest cancer staining cervical cancer (9 of 12 high). Distribution: 9 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Skin cancer (all types), Lung cancer (all types), Bladder & urothelial cancer, Head and neck squamous cell carcinoma, Lymphoma, Oesophageal cancer and more); Open Targets associates it with 19 specific cancer types at or above 0.5 (dysplastic nevus, familial atypical multiple mole melanoma syndrome, melanoma, cutaneous melanoma, melanoma and neural system tumor syndrome, familial melanoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CDKN2A tissue","url":"https://www.proteinatlas.org/ENSG00000147889-CDKN2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CDKN2A pathology","url":"https://www.proteinatlas.org/ENSG00000147889-CDKN2A/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147889 associations","url":"https://platform.opentargets.org/target/ENSG00000147889/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1787","ensembl":"ENSG00000147889","uniprot":"P42771","entrez":"1029","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Serrano et al, Nature, 1993, \"A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8259215/","biology":"Acts as a negative regulator of the proliferation of normal cells by interacting strongly with CDK4 and CDK6. This inhibits their ability to interact with cyclins D and to phosphorylate the retinoblastoma protein. Location: Cytoplasm; Nucleus (UniProt). Locus 9p21.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.80 with skin cancer (MONDO_0002898); IntOGen driver in 1 cohort (SKIN)","Lung cancer: Open Targets association 0.75 with lung cancer (MONDO_0008903)","Bladder & urothelial cancer: Open Targets association 0.70 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease","Head and neck squamous cell carcinoma: Open Targets association 0.70 with head and neck squamous cell carcinoma (MONDO_0010150); CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.69 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (MLYM)","Oesophageal cancer: Open Targets association 0.69 with oesophageal cancer (MONDO_0007576); CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: mutation or deep deletion (with cdkn2b and mtap co-deletion) 37-48%","Gallbladder cancer: deletion or mutation about 21%","Non-small-cell lung cancer: homozygous deletion and inactivating mutation 15-20%","Non-small-cell lung cancer: deletion or mutation of cdkn2a, with rb1 loss 26-41%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"pancreatic","pct":"37-48","measure":"Mutation or deep deletion (with CDKN2B and MTAP co-deletion)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal: mutation in 546 of 2,336, 23.4%, and deep deletion in 359, 15.4%, in pdac_msk_2024; mutation 35 of 179, 19.6%, and deep deletion 52 of 183, 28.4%, in paad_tcga_pan_can_atlas_2018; mutation 6 and deep deletion 40 of 109, 42.2%, in paad_utsw_2015; mutation 93 of 395, 23.5%, and deep deletion 19 in pancreas_msk_2024; mutation 71 of 383, 18.5%, in paad_qcmg_uq_2016 (no copy-number profile); 29 of 140, 20.7%, in paad_cptac_2021. CDKN2B was co-deleted in 333 of 2,336 (pdac_msk_2024) and 50 of 183 (TCGA); MTAP deep deletion in 40 of 183, 21.9% (TCGA) and 34 of 109, 31.2% (UTSW), 51 of 2,336 on the MSK panel."},{"cancerId":"gallbladder","pct":21,"measure":"Deletion or mutation","source":"https://doi.org/10.1158/1078-0432.ccr-22-1954","note":"CDKN2A 21% (Giraldo 2022); CDKN2A/B 19% of 85 (Javle 2016); CDKN2A 9% of 376 Indian patients, significantly lower than Western and Asian cohorts (Suryavanshi 2025); cBioPortal gbc_mskcc_2022: CDKN2A deep deletion in 35 of 244, 14.3%, mutation in 26 of 244, 10.7%; CDKN2B deep deletion in 34 of 244, 13.9%."},{"cancerId":"nsclc","pct":"15-20","measure":"Homozygous deletion and inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal deep deletion: 358 of 2,422, 14.8%, in luad_mskcc_2023_met_organotropism; 86 of 511, 16.8%, in luad_tcga_pan_can_atlas_2018; 45 of 230, 19.6%, in luad_tcga_pub; 87 of 915, 9.5%, in lung_msk_2017, with mutation on top in 137, 25, 10 and 49 samples respectively."},{"cancerId":"nsclc","pct":"26-41","measure":"Deletion or mutation of CDKN2A, with RB1 loss","source":"https://www.cbioportal.org/study/summary?id=lusc_tcga_pan_can_atlas_2018","note":"cBioPortal: CDKN2A deep deletion 128 of 487, 26.3%, plus mutation in 73 of 484, 15.1%, in lusc_tcga_pan_can_atlas_2018; deletion 47 of 178, 26.4%, plus mutation 31, 17.4%, in lusc_tcga_pub; mutation 17 of 108, 15.7%, in lusc_cptac_2021. RB1 is mutated in 31 of 484, 6.4%, with deep deletion in 16 of 487. The founding paper put CDKN2A and RB1 alteration together at 72% of tumours, counting epigenetic silencing and exon skipping as well as deletion and mutation (Cancer Genome Atlas Research Network 2012)."}]},{"id":"cdkn2b","kind":"target","name":"CDKN2B","aka":["cyclin dependent kinase inhibitor 2B","Cyclin-dependent kinase 4 inhibitor B","P15","MTS2","INK4B","TP15","CDK4I","p15INK4b"],"tldr":"CDKN2B (Cyclin-dependent kinase 4 inhibitor B) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma, Renal cell carcinoma, Breast cancer and 5 more.","summary":"Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest.\n\nCIViC holds 8 clinical evidence items and 0 assertions across 5 variants, naming Palbociclib, Trametinib, Bevacizumab and Vemurafenib and others. Open Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.76, literature 0.98, genetic association 0.70, somatic mutation 0.62).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1788","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1788"},{"label":"UniProt P42772","url":"https://www.uniprot.org/uniprotkb/P42772/entry"},{"label":"NCBI Gene 1030","url":"https://www.ncbi.nlm.nih.gov/gene/1030"},{"label":"Ensembl ENSG00000147883","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147883"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["pancreatic","rcc","breast-cancer","skin-cancer","cholangiocarcinoma","ewing-sarcoma","apl","all-leukemia","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["sclc-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 9 therapies; CIViC holds 8 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Ganglioglioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDKN2B","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1788","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1788","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42772","url":"https://www.uniprot.org/uniprotkb/P42772/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDKN2B","url":"https://civicdb.org/features/916","note":"8 evidence items, 0 assertions, 5 variants; diseases: Pancreatic Cancer, Cholangiocarcinoma, Ewing Sarcoma, Renal Cell Carcinoma, Acute Promyelocytic Leukaemia and 2 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000147883","url":"https://platform.opentargets.org/target/ENSG00000147883/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: skin cancer 0.51, basal cell carcinoma 0.50, breast cancer 0.60 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CDKN2B: RNA tissue enhanced (esophagus 37 nTPM, intestine 29 nTPM); blood lineage lineage enriched (monocytes 9 nTPM); no normal tissue stained high; highest cancer staining liver cancer (3 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Pancreatic ductal adenocarcinoma, Renal cell carcinoma, Breast cancer (all types), Skin cancer (all types), Sarcomas (soft tissue, bone, GIST), Leukaemia); Open Targets associates it with 4 specific cancer types at or above 0.5 (breast cancer, glioma, basal cell carcinoma, central nervous system cancer). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CDKN2B tissue","url":"https://www.proteinatlas.org/ENSG00000147883-CDKN2B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147883 associations","url":"https://platform.opentargets.org/target/ENSG00000147883/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1788","ensembl":"ENSG00000147883","uniprot":"P42772","entrez":"1030","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Guan K.-L. et al, Genes Dev, 1994, \"Growth suppression by p18, a p16INK4/MTS1- and p14INK4B/MTS2-related CDK6 inhibitor, correlates with wild-type pRb function\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8001816/","biology":"Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest. Location: Cytoplasm (UniProt). Locus 9p21.3 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Renal cell carcinoma: CIViC evidence names this disease","Breast cancer: Open Targets association 0.60 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Biliary tract cancer: CIViC evidence names this disease","Ewing sarcoma: CIViC evidence names this disease","Gallbladder cancer: deep deletion (with cdkn2a) about 14%"],"targetClass":"other","prevalence":[{"cancerId":"gallbladder","pct":14,"measure":"Deep deletion (with CDKN2A)","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Deep deletion in 34 of 244 samples, 13.9%, in cBioPortal gbc_mskcc_2022 and 12 of 103, 11.7%, in gbc_msk_2018; co-deleted with CDKN2A on 9p21."}]},{"id":"cdkn2c","kind":"target","name":"CDKN2C","aka":["cyclin dependent kinase inhibitor 2C","Cyclin-dependent kinase 4 inhibitor C","INK4C","p18"],"tldr":"CDKN2C (Cyclin-dependent kinase 4 inhibitor C) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Brain and spinal cord tumours and Burkitt lymphoma.","summary":"Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes affected pathway 0.76, literature 0.94, genetic association 0.22, somatic mutation 0.80, animal model 0.76). IntOGen calls it a driver in 3 cohorts (2 activating, 1 loss-of-function), covering Burkitt Lymphoma, High-Grade Glioma, NOS, Low-Grade Glioma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1789","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1789"},{"label":"UniProt P42773","url":"https://www.uniprot.org/uniprotkb/P42773/entry"},{"label":"NCBI Gene 1031","url":"https://www.ncbi.nlm.nih.gov/gene/1031"},{"label":"Ensembl ENSG00000123080","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123080"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["brain-tumours","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: High-Grade Glioma, NOS; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDKN2C","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1789","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1789","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42773","url":"https://www.uniprot.org/uniprotkb/P42773/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000123080","url":"https://platform.opentargets.org/target/ENSG00000123080/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: brain cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen CDKN2C","url":"https://www.intogen.org/search?gene=CDKN2C","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1789","ensembl":"ENSG00000123080","uniprot":"P42773","entrez":"1031","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Guan K.-L. et al, Genes Dev, 1994, \"Growth suppression by p18, a p16INK4/MTS1- and p14INK4B/MTS2-related CDK6 inhibitor, correlates with wild-type pRb function\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8001816/","biology":"Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB. Locus 1p32.3 (HGNC).","whereFound":["Brain and spinal cord tumours: Open Targets association 0.50 with brain cancer (MONDO_0001657)","Burkitt lymphoma: IntOGen driver in 1 cohort (BL)"],"targetClass":"oncogene","prevalence":[]},{"id":"cdx2","kind":"target","name":"CDX2","aka":["caudal type homeobox 2","Homeobox protein CDX-2","CDX3"],"tldr":"CDX2 (Homeobox protein CDX-2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Oesophageal cancer, Skin cancer and 3 more.","summary":"Transcription factor which regulates the transcription of multiple genes expressed in the intestinal epithelium. Binds to the promoter of the intestinal sucrase-isomaltase SI and activates SI transcription. Binds to the DNA sequence 5'-ATAAAAACTTAT-3' in the promoter region of VDR and activates VDR transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.33, animal model 0.66, somatic mutation 0.81). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1806"},{"label":"UniProt Q99626","url":"https://www.uniprot.org/uniprotkb/Q99626/entry"},{"label":"NCBI Gene 1045","url":"https://www.ncbi.nlm.nih.gov/gene/1045"},{"label":"Ensembl ENSG00000165556","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165556"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","esophageal","skin-cancer","lung-cancer","oesophageal-adenocarcinoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CDX2","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1806","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99626","url":"https://www.uniprot.org/uniprotkb/Q99626/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDX2","url":"https://civicdb.org/features/927","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000165556","url":"https://platform.opentargets.org/target/ENSG00000165556/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: melanoma 0.53, skin cancer 0.53, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen CDX2","url":"https://www.intogen.org/search?gene=CDX2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CDX2: RNA tissue enriched (intestine 45 nTPM); high antibody staining in 4 normal tissues; highest cancer staining colorectal cancer (7 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Oesophageal cancer, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q99626","url":"https://www.uniprot.org/uniprotkb/Q99626/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CDX2","url":"https://civicdb.org/features/927","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"IntOGen CDX2","url":"https://www.intogen.org/search?gene=CDX2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CDX2 tissue","url":"https://www.proteinatlas.org/ENSG00000165556-CDX2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000165556 associations","url":"https://platform.opentargets.org/target/ENSG00000165556/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1806","ensembl":"ENSG00000165556","uniprot":"Q99626","entrez":"1045","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Inamori et al, Biochem. Biophys. Res. Commun, 1993, \"Identification of homeobox genes expressed in human T-lymphocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8105782/","biology":"Transcription factor which regulates the transcription of multiple genes expressed in the intestinal epithelium. Binds to the promoter of the intestinal sucrase-isomaltase SI and activates SI transcription. Binds to the DNA sequence 5'-ATAAAAACTTAT-3' in the promoter region of VDR and activates VDR transcription. Binds to and activates transcription of LPH. Activates transcription of CLDN2 and intestinal mucin MUC2. Binds to the 5'-AATTTTTTACAACACCT-3' DNA sequence in the promoter region of CA1 and activates CA1 transcription. Location: Nucleus (UniProt). Locus 13q12.2 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)","Melanoma: Open Targets association 0.53 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ceacam1","kind":"target","name":"CEACAM1","aka":["CEA cell adhesion molecule 1","Cell adhesion molecule CEACAM1","BGP1","CD66a"],"tldr":"CEACAM1 (Cell adhesion molecule CEACAM1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Hepatocellular carcinoma.","summary":"Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner. Plays a role as coinhibitory receptor in immune response, insulin action and also functions as an activator during angiogenesis. Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1814","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1814"},{"label":"UniProt P13688","url":"https://www.uniprot.org/uniprotkb/P13688/entry"},{"label":"NCBI Gene 634","url":"https://www.ncbi.nlm.nih.gov/gene/634"},{"label":"Ensembl ENSG00000079385","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000079385"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal","hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CEACAM1","role":["biomarker","immune-checkpoint"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1814","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1814","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P13688","url":"https://www.uniprot.org/uniprotkb/P13688/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CEACAM1","url":"https://civicdb.org/features/588","note":"3 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Hepatocellular Carcinoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CEACAM1: RNA tissue enhanced (intestine 231 nTPM); blood lineage lineage enriched (granulocytes 44 nTPM); high antibody staining in 3 normal tissues; highest cancer staining colorectal cancer (1 of 10 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Hepatocellular carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CEACAM1 tissue","url":"https://www.proteinatlas.org/ENSG00000079385-CEACAM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000079385 associations","url":"https://platform.opentargets.org/target/ENSG00000079385/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1814","ensembl":"ENSG00000079385","uniprot":"P13688","entrez":"634","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hinoda et al, Proc. Natl. Acad. Sci. U.S.A, 1988, \"Molecular cloning of a cDNA coding biliary glycoprotein I: primary structure of a glycoprotein immunologically crossreactive with carcinoembryonic antigen\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2457922/","biology":"Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner. Plays a role as coinhibitory receptor in immune response, insulin action and also functions as an activator during angiogenesis. Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors. Plays a role in immune response, of T cells, natural killer (NK) and neutrophils. Upon TCR/CD3 complex stimulation, inhibits TCR-mediated cytotoxicity by blocking granule exocytosis by mediating homophilic binding to adjacent cells, allowing interaction with and phosphorylation by LCK and interaction with the TCR/CD3 complex which recruits PTPN6 resulting in dephosphorylation of CD247 and ZAP70. Also inhibits T cell proliferation and cytokine production through inhibition of JNK cascade and plays a crucial role in regulating autoimmunity and anti-tumour immunity by inhibiting T cell through its interaction with HAVCR2. Location: Cell membrane; Lateral cell membrane; Apical cell membrane; Basal cell membrane (UniProt). Locus 19q13.2 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Hepatocellular carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ceacam5","kind":"target","name":"CEACAM5","aka":[],"tldr":"The classic 'CEA' tumour marker measured in blood, also present on the cell surface where ADCs can reach it.","summary":"CEACAM5 is carcinoembryonic antigen, a GPI-anchored adhesion molecule that is shed into circulation as the serum CEA marker and also sits on the cell surface where ADCs and T-cell engagers can reach it. It is overexpressed in colorectal (80-90% moderate-to-high by IHC), gastric (50-60%), lung adenocarcinoma, and pancreatic cancers; only 20-25% of non-squamous NSCLC met the high-expression threshold used in CARMEN. Tusamitamab ravtansine failed in phase 3 NSCLC (CARMEN-LC03), a setback that raised questions about payload choice and patient selection rather than the target itself. CEACAM5 remains pursued with T-cell engagers and next-generation ADCs. The simple version is the classic CEA blood marker, now also being used as a surface target for drug delivery.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Carcinoembryonic_antigen","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Carcinoembryonic_antigen"}],"tags":["adc-target","biomarker"],"related":["ceacam5-expression"],"cancers":["colorectal","nsclc","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":["sgm-101","precemtabart-tocentecan","ose2101"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct07589517","nct07462650"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CEACAM5","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 3 cell-killing or cell-finding medicines (SGM-101, Precemtabart tocentecan, Tusamitamab ravtansine) aim at the antigen, which HPA finds stained high in 3 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA CEACAM5: RNA tissue enriched (intestine 920 nTPM); high antibody staining in 3 normal tissues; highest cancer staining colorectal cancer (6 of 10 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types), Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CEACAM5 tissue","url":"https://www.proteinatlas.org/ENSG00000105388-CEACAM5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CEACAM5 pathology","url":"https://www.proteinatlas.org/ENSG00000105388-CEACAM5/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105388 associations","url":"https://platform.opentargets.org/target/ENSG00000105388/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1817","ensembl":"ENSG00000105388","uniprot":"P06731","entrez":"1048","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Beauchemin et al, Mol. Cell. Biol, 1987, \"Isolation and characterization of full-length functional cDNA clones for human carcinoembryonic antigen\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3670312/","biology":"GPI-anchored adhesion molecule; shed into circulation as the serum CEA marker.","whereFound":["Colorectal","Gastric","Lung adenocarcinoma","Pancreatic"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"colorectal","pct":"80-90","measure":"IHC, moderate-high","source":"https://en.wikipedia.org/wiki/Carcinoembryonic_antigen"},{"cancerId":"nsclc","pct":"20-25","measure":"High expression (>=50% cells 2+/3+)","source":"https://en.wikipedia.org/wiki/Carcinoembryonic_antigen","note":"Non-squamous, CARMEN threshold"},{"cancerId":"gastric","pct":"50-60","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/Carcinoembryonic_antigen"}]},{"id":"cebpa","kind":"target","name":"CEBPA","aka":["CCAAT enhancer binding protein alpha","CCAAT/enhancer-binding protein alpha","C/EBP-alpha"],"tldr":"CEBPA (CCAAT/enhancer-binding protein alpha) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms and Acute myeloid leukaemia.","summary":"Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3' acting as an activator on distinct target genes. During early embryogenesis, plays essential and redundant functions with CEBPB.\n\nCIViC holds 15 clinical evidence items and 1 assertion across 4 variants, naming Tretinoin and OICR-9429. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes genetic literature 0.80, affected pathway 0.42, literature 0.99, genetic association 0.87, somatic mutation 0.92, animal model 0.58). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1833","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833"},{"label":"UniProt P49715","url":"https://www.uniprot.org/uniprotkb/P49715/entry"},{"label":"NCBI Gene 1050","url":"https://www.ncbi.nlm.nih.gov/gene/1050"},{"label":"Ensembl ENSG00000245848","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000245848"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["aml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 15 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Acute Myeloid Leukaemia With Mutated CEBPA."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CEBPA","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1833","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1833","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49715","url":"https://www.uniprot.org/uniprotkb/P49715/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CEBPA","url":"https://civicdb.org/features/15","note":"15 evidence items, 1 assertions, 4 variants; diseases: Acute Myeloid Leukaemia, Acute Myeloid Leukaemia With Mutated CEBPA (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000245848","url":"https://platform.opentargets.org/target/ENSG00000245848/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.85, myeloproliferative neoplasm 0.85, leukaemia 0.86 (GraphQL API, CC0)"},{"label":"IntOGen CEBPA","url":"https://www.intogen.org/search?gene=CEBPA","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CEBPA: RNA group enriched (adipose tissue 93 nTPM, breast 68 nTPM, liver 198 nTPM); blood lineage group enriched (dendritic cells 5 nTPM, granulocytes 16 nTPM, monocytes 16 nTPM); high antibody staining in 2 normal tissues; highest cancer staining stomach cancer (2 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P49715","url":"https://www.uniprot.org/uniprotkb/P49715/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CEBPA","url":"https://civicdb.org/features/15","note":"15 evidence items, 1 assertions, 4 variants; diseases: Acute Myeloid Leukaemia, Acute Myeloid Leukaemia With Mutated CEBPA (GraphQL API, CC0)"},{"label":"IntOGen CEBPA","url":"https://www.intogen.org/search?gene=CEBPA","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CEBPA tissue","url":"https://www.proteinatlas.org/ENSG00000245848-CEBPA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000245848 associations","url":"https://platform.opentargets.org/target/ENSG00000245848/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1833","ensembl":"ENSG00000245848","uniprot":"P49715","entrez":"1050","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Antonson et al, Biochem. Biophys. Res. Commun, 1995, \"Molecular cloning, sequence, and expression patterns of the human gene encoding CCAAT/enhancer binding protein alpha (C/EBP alpha)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7575576/","biology":"Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3' acting as an activator on distinct target genes. During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung. Necessary for terminal adipocyte differentiation, is required for postnatal maintenance of systemic energy homeostasis and lipid storage. Location: Nucleus; Nucleus, nucleolus (UniProt). Locus 19q13.11 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.86 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.85 with myeloproliferative neoplasm (MONDO_0020076)","Acute myeloid leukaemia: Open Targets association 0.85 with acute myeloid leukaemia (MONDO_0018874); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"celf2","kind":"target","name":"CELF2","aka":["CUGBP Elav-like family member 2","Etr-3","NAPOR-2","BRUNOL3","CUGBP2"],"tldr":"CELF2 (CUGBP Elav-like family member 2) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2550","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2550"},{"label":"UniProt O95319","url":"https://www.uniprot.org/uniprotkb/O95319/entry"},{"label":"NCBI Gene 10659","url":"https://www.ncbi.nlm.nih.gov/gene/10659"},{"label":"Ensembl ENSG00000048740","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000048740"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CELF2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2550","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2550","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95319","url":"https://www.uniprot.org/uniprotkb/O95319/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000048740","url":"https://platform.opentargets.org/target/ENSG00000048740/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2550","ensembl":"ENSG00000048740","uniprot":"O95319","entrez":"10659","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Choi D.-K. et al, Gene, 1998, \"Fluorescent differential display analysis of gene expression in apoptotic neuroblastoma cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9858671/","biology":"RNA-binding protein implicated in the regulation of several post-transcriptional events. Involved in pre-mRNA alternative splicing, mRNA translation and stability. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of TNNT2 in embryonic, but not adult, skeletal muscle. Activates TNNT2 exon 5 inclusion by antagonising the repressive effect of PTB. Acts both as an activator and as a repressor of a pair of coregulated exons: promotes inclusion of the smooth muscle (SM) exon but exclusion of the non-muscle (NM) exon in actinin pre-mRNAs. Location: Nucleus; Cytoplasm (UniProt). Locus 10p14 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"cep43","kind":"target","name":"CEP43","aka":["centrosomal protein 43","Centrosomal protein 43","FGFR1OP"],"tldr":"CEP43 (Centrosomal protein 43) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Non-Hodgkin lymphoma and Acute lymphoblastic leukaemia.","summary":"Required for anchoring microtubules to the centrosomes. Required for ciliation.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes affected pathway 0.95, literature 0.23, genetic association 0.52, somatic mutation 0.49, animal model 0.40).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17012","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17012"},{"label":"UniProt O95684","url":"https://www.uniprot.org/uniprotkb/O95684/entry"},{"label":"NCBI Gene 11116","url":"https://www.ncbi.nlm.nih.gov/gene/11116"},{"label":"Ensembl ENSG00000213066","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000213066"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CEP43","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17012","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17012","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95684","url":"https://www.uniprot.org/uniprotkb/O95684/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000213066","url":"https://platform.opentargets.org/target/ENSG00000213066/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.53, non-Hodgkin lymphoma 0.53, leukaemia 0.62 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17012","ensembl":"ENSG00000213066","uniprot":"O95684","entrez":"11116","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Popovici et al, Blood, 1999, \"The t(6;8)(q27;p11) translocation in a stem cell myeloproliferative disorder fuses a novel gene, FOP, to fibroblast growth factor receptor 1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9949182/","biology":"Required for anchoring microtubules to the centrosomes. Required for ciliation. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole; Cytoplasm, cytoskeleton, cilium basal body (UniProt). Locus 6q27 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.53 with non-Hodgkin lymphoma (MONDO_0018908)","Acute lymphoblastic leukaemia: Open Targets association 0.53 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"other","prevalence":[]},{"id":"cep89","kind":"target","name":"CEP89","aka":["centrosomal protein 89","Centrosomal protein of 89 kDa","FLJ14640","CCDC123"],"tldr":"CEP89 (Centrosomal protein of 89 kDa) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer.","summary":"Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25907","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25907"},{"label":"UniProt Q96ST8","url":"https://www.uniprot.org/uniprotkb/Q96ST8/entry"},{"label":"NCBI Gene 84902","url":"https://www.ncbi.nlm.nih.gov/gene/84902"},{"label":"Ensembl ENSG00000121289","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121289"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CEP89","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:25907","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25907","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96ST8","url":"https://www.uniprot.org/uniprotkb/Q96ST8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CEP89","url":"https://www.intogen.org/search?gene=CEP89","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:25907","ensembl":"ENSG00000121289","uniprot":"Q96ST8","entrez":"84902","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity. Location: Cytoplasm, cytosol; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle pole; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole (UniProt). Locus 19q13.11 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"cereblon","kind":"target","name":"Cereblon (CRBN)","aka":[],"tldr":"The protein that lenalidomide and pomalidomide latch onto. Bound drug changes which proteins the cell tags for destruction, degrading the myeloma transcription factors Ikaros and Aiolos.","summary":"Cereblon is the substrate receptor of the CRL4 E3 ubiquitin ligase. Thalidomide, lenalidomide and pomalidomide act as molecular glues: bound to cereblon they recruit new substrates, above all the lymphoid transcription factors IKZF1 (Ikaros) and IKZF3 (Aiolos), for ubiquitination and destruction, which kills myeloma cells and stimulates T and natural killer cells. In del(5q) myelodysplastic syndrome lenalidomide degrades casein kinase 1 alpha instead. This mechanism founded the field of targeted protein degradation and is the template for molecular glue degraders.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Cereblon","links":[{"label":"UniProt Q96SW2: CRBN","url":"https://www.uniprot.org/uniprotkb/Q96SW2/entry"}],"tags":[],"related":[],"cancers":["multiple-myeloma","mds"],"sections":[],"technologies":["celmods"],"targets":[],"drugs":["lenalidomide","pomalidomide"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CRBN","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Lenalidomide, Pomalidomide) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA CRBN: RNA low tissue specificity; high antibody staining in 21 normal tissues; highest cancer staining melanoma (1 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Myeloid neoplasms); Open Targets associates it with 4 specific cancer types at or above 0.5 (plasma cell myeloma, myelodysplastic syndrome, follicular lymphoma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CRBN tissue","url":"https://www.proteinatlas.org/ENSG00000113851-CRBN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113851 associations","url":"https://platform.opentargets.org/target/ENSG00000113851/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:30185","ensembl":"ENSG00000113851","uniprot":"Q96SW2","entrez":"51185","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hu R.-M. et al, Proc. Natl. Acad. Sci. U.S.A, 2000, \"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10931946/","biology":"Substrate receptor of the CRL4 (CUL4, DDB1, RBX1) E3 ubiquitin ligase; immunomodulatory drugs redirect it to degrade IKZF1, IKZF3 and CK1 alpha.","whereFound":["Multiple myeloma","Myelodysplastic syndrome with del(5q)"],"targetClass":"other","prevalence":[{"cancerId":"multiple-myeloma","pct":"nearly all","measure":"Cereblon expression at diagnosis; required for lenalidomide and pomalidomide activity, lost in a minority of refractory disease","source":"https://doi.org/10.1182/blood-2011-05-356063"}]},{"id":"cflar","kind":"target","name":"CFLAR","aka":["CASP8 and FADD like apoptosis regulator","CASP8 and FADD-like apoptosis regulator","Casper","CLARP","FLAME","I-FLICE","c-FLIP","cFLIP","CASP8AP1"],"tldr":"CFLAR (CASP8 and FADD-like apoptosis regulator) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. Acts as an inhibitor of TNFRSF6 mediated apoptosis. A proteolytic fragment (p43) is likely retained in the death-inducing signalling complex (DISC) thereby blocking further recruitment and processing of caspase-8 at the complex.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Bicalutamide.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1876","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1876"},{"label":"UniProt O15519","url":"https://www.uniprot.org/uniprotkb/O15519/entry"},{"label":"NCBI Gene 8837","url":"https://www.ncbi.nlm.nih.gov/gene/8837"},{"label":"Ensembl ENSG00000003402","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000003402"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CFLAR","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1876","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1876","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15519","url":"https://www.uniprot.org/uniprotkb/O15519/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CFLAR","url":"https://civicdb.org/features/7009","note":"1 evidence items, 0 assertions, 2 variants; diseases: Prostate Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA CFLAR: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 394 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (6 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CFLAR tissue","url":"https://www.proteinatlas.org/ENSG00000003402-CFLAR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000003402 associations","url":"https://platform.opentargets.org/target/ENSG00000003402/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1876","ensembl":"ENSG00000003402","uniprot":"O15519","entrez":"8837","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shu H.-B. et al, Immunity, 1997, \"Casper is a FADD- and caspase-related inducer of apoptosis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9208847/","biology":"Apoptosis regulator protein which may function as a crucial link between cell survival and cell death pathways in mammalian cells. Acts as an inhibitor of TNFRSF6 mediated apoptosis. A proteolytic fragment (p43) is likely retained in the death-inducing signalling complex (DISC) thereby blocking further recruitment and processing of caspase-8 at the complex. Full length and shorter isoforms have been shown either to induce apoptosis or to reduce TNFRSF-triggered apoptosis. Lacks enzymatic (caspase) activity. Locus 2q33.1 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"chchd7","kind":"target","name":"CHCHD7","aka":["coiled-coil-helix-coiled-coil-helix domain containing 7","Coiled-coil-helix-coiled-coil-helix domain-containing protein 7","MGC2217","COX23"],"tldr":"CHCHD7 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 7) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Oral cavity cancer.","summary":"UniProt has no function text for Q9BUK0; HGNC names it \"coiled-coil-helix-coiled-coil-helix domain containing 7\".\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.10, genetic association 0.09, somatic mutation 0.89).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28314","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28314"},{"label":"UniProt Q9BUK0","url":"https://www.uniprot.org/uniprotkb/Q9BUK0/entry"},{"label":"NCBI Gene 79145","url":"https://www.ncbi.nlm.nih.gov/gene/79145"},{"label":"Ensembl ENSG00000170791","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170791"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["oral-cavity-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHCHD7","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:28314","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28314","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BUK0","url":"https://www.uniprot.org/uniprotkb/Q9BUK0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000170791","url":"https://platform.opentargets.org/target/ENSG00000170791/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: oral cavity cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:28314","ensembl":"ENSG00000170791","uniprot":"Q9BUK0","entrez":"79145","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Guo J.H. et al, 2001.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9BUK0/entry","biology":"UniProt has no function text for Q9BUK0; HGNC names it \"coiled-coil-helix-coiled-coil-helix domain containing 7\". Location: Mitochondrion intermembrane space (UniProt). Locus 8q12.1 (HGNC).","whereFound":["Oral cavity cancer: Open Targets association 0.51 with oral cavity cancer (MONDO_0005515)"],"targetClass":"other","prevalence":[]},{"id":"chd2","kind":"target","name":"CHD2","aka":["chromodomain helicase DNA binding protein 2","ATP-dependent chromatin remodeler CHD2","FLJ38614","DKFZp547I1315","DKFZp781D1727","DKFZp686E01200"],"tldr":"CHD2 (ATP-dependent chromatin remodeler CHD2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Non-Hodgkin lymphoma, Bladder & urothelial cancer and 5 more.","summary":"ATP-dependent chromatin-remodeling factor that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression.\n\nIntOGen calls it a driver in 7 cohorts (3 activating, 4 loss-of-function), covering Bladder Urothelial Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Gastrointestinal Stromal Tumour, Papillary Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1917","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1917"},{"label":"UniProt O14647","url":"https://www.uniprot.org/uniprotkb/O14647/entry"},{"label":"NCBI Gene 1106","url":"https://www.ncbi.nlm.nih.gov/gene/1106"},{"label":"Ensembl ENSG00000173575","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173575"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","urothelial","rcc","all-leukemia","cll","gist","papillary-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHD2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1917","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1917","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14647","url":"https://www.uniprot.org/uniprotkb/O14647/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000173575","url":"https://platform.opentargets.org/target/ENSG00000173575/associations","note":"per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.72, B-cell chronic lymphocytic leukaemia 0.71, non-Hodgkin lymphoma 0.72, leukaemia 0.74 (GraphQL API, CC0)"},{"label":"IntOGen CHD2","url":"https://www.intogen.org/search?gene=CHD2","note":"driver in 7 cohorts (Act 3, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1917","ensembl":"ENSG00000173575","uniprot":"O14647","entrez":"1106","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Woodage et al, Proc. Natl. Acad. Sci. U.S.A, 1997, \"Characterization of the CHD family of proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9326634/","biology":"ATP-dependent chromatin-remodeling factor that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression. Location: Nucleus (UniProt). Locus 15q26.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.74 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.72 with non-Hodgkin lymphoma (MONDO_0018908)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)","Acute lymphoblastic leukaemia: Open Targets association 0.72 with acute lymphoblastic leukaemia (MONDO_0004967)","Chronic lymphocytic leukaemia: Open Targets association 0.71 with B-cell chronic lymphocytic leukaemia (MONDO_0004948); IntOGen driver in 4 cohorts (CLLSLL)"],"targetClass":"transcription","prevalence":[]},{"id":"chd4","kind":"target","name":"CHD4","aka":["chromodomain helicase DNA binding protein 4","ATP-dependent chromatin remodeler CHD4","Mi-2b","Mi2-BETA"],"tldr":"CHD4 (ATP-dependent chromatin remodeler CHD4) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Endometrial cancer, Colorectal cancer, Renal cell carcinoma and 5 more.","summary":"ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA. Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin. Localises to acetylated damaged chromatin in a ZMYND8-dependent manner, to promote transcriptional repression and double-strand break repair by homologous recombination.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.28, genetic association 0.00, somatic mutation 0.95). IntOGen calls it a driver in 9 cohorts (6 activating, 3 loss-of-function), covering Acute Lymphoblastic Leukaemia, Renal Clear Cell Carcinoma, Colon Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Neuroblastoma, Endometrial Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1919"},{"label":"UniProt Q14839","url":"https://www.uniprot.org/uniprotkb/Q14839/entry"},{"label":"NCBI Gene 1108","url":"https://www.ncbi.nlm.nih.gov/gene/1108"},{"label":"Ensembl ENSG00000111642","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111642"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["endometrial","colorectal","rcc","head-and-neck","skin-cancer","gastric","all-leukemia","clear-cell-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 6 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHD4","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1919","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14839","url":"https://www.uniprot.org/uniprotkb/Q14839/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000111642","url":"https://platform.opentargets.org/target/ENSG00000111642/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: colorectal cancer 0.57, gastric cancer 0.52, endometrial cancer 0.55, melanoma 0.52, skin cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen CHD4","url":"https://www.intogen.org/search?gene=CHD4","note":"driver in 9 cohorts (Act 6, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1919","ensembl":"ENSG00000111642","uniprot":"Q14839","entrez":"1108","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Seelig H.P. et al, Arthritis Rheum, 1995, \"The major dermatomyositis specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7575689/","biology":"ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA. Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin. Localises to acetylated damaged chromatin in a ZMYND8-dependent manner, to promote transcriptional repression and double-strand break repair by homologous recombination. Involved in neurogenesis. Location: Nucleus; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 12p13.31 (HGNC).","whereFound":["Endometrial cancer: Open Targets association 0.55 with endometrial cancer (MONDO_0011962); IntOGen driver in 3 cohorts (UCEC)","Colorectal cancer: Open Targets association 0.57 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COAD)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)"],"targetClass":"transcription","prevalence":[]},{"id":"chd7","kind":"target","name":"CHD7","aka":["chromodomain helicase DNA binding protein 7","ATP-dependent chromatin remodeler CHD7","KIAA1416","FLJ20357","FLJ20361"],"tldr":"CHD7 (ATP-dependent chromatin remodeler CHD7) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Medulloblastoma.","summary":"ATP-dependent chromatin-remodeling factor, slides nucleosomes along DNA; nucleosome sliding requires ATP. Probable transcription regulator. May be involved in the in 45S precursor rRNA production.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Medulloblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20626","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20626"},{"label":"UniProt Q9P2D1","url":"https://www.uniprot.org/uniprotkb/Q9P2D1/entry"},{"label":"NCBI Gene 55636","url":"https://www.ncbi.nlm.nih.gov/gene/55636"},{"label":"Ensembl ENSG00000171316","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171316"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHD7","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:20626","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20626","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9P2D1","url":"https://www.uniprot.org/uniprotkb/Q9P2D1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CHD7","url":"https://www.intogen.org/search?gene=CHD7","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:20626","ensembl":"ENSG00000171316","uniprot":"Q9P2D1","entrez":"55636","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10718198/","biology":"ATP-dependent chromatin-remodeling factor, slides nucleosomes along DNA; nucleosome sliding requires ATP. Probable transcription regulator. May be involved in the in 45S precursor rRNA production. Location: Nucleus; Nucleus, nucleolus (UniProt). Locus 8q12.2 (HGNC).","whereFound":["Medulloblastoma: IntOGen driver in 1 cohort (MBL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"chd8","kind":"target","name":"CHD8","aka":["chromodomain helicase DNA binding protein 8","ATP-dependent chromatin remodeler CHD8","KIAA1564","DUPLIN","HELSNF1"],"tldr":"CHD8 (ATP-dependent chromatin remodeler CHD8) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Burkitt lymphoma.","summary":"ATP-dependent chromatin-remodeling factor, it slides nucleosomes along DNA; nucleosome sliding requires ATP. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20153","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20153"},{"label":"UniProt Q9HCK8","url":"https://www.uniprot.org/uniprotkb/Q9HCK8/entry"},{"label":"NCBI Gene 57680","url":"https://www.ncbi.nlm.nih.gov/gene/57680"},{"label":"Ensembl ENSG00000100888","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100888"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHD8","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:20153","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20153","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HCK8","url":"https://www.uniprot.org/uniprotkb/Q9HCK8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CHD8","url":"https://civicdb.org/features/13968","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA CHD8: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CHD8 tissue","url":"https://www.proteinatlas.org/ENSG00000100888-CHD8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100888 associations","url":"https://platform.opentargets.org/target/ENSG00000100888/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20153","ensembl":"ENSG00000100888","uniprot":"Q9HCK8","entrez":"57680","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10997877/","biology":"ATP-dependent chromatin-remodeling factor, it slides nucleosomes along DNA; nucleosome sliding requires ATP. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signalling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Location: Nucleus (UniProt). Locus 14q11.2 (HGNC).","whereFound":["Burkitt lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"chek1","kind":"target","name":"CHEK1","aka":["checkpoint kinase 1","Serine/threonine-protein kinase Chk1","CHK1"],"tldr":"CHEK1 (Serine/threonine-protein kinase Chk1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer and Small-cell lung cancer.","summary":"Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA. May also negatively regulate cell cycle progression during unperturbed cell cycles. This regulation is achieved by a number of mechanisms that together help to preserve the integrity of the genome.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Olaparib, Cisplatin and Prexasertib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1925","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1925"},{"label":"UniProt O14757","url":"https://www.uniprot.org/uniprotkb/O14757/entry"},{"label":"NCBI Gene 1111","url":"https://www.ncbi.nlm.nih.gov/gene/1111"},{"label":"Ensembl ENSG00000149554","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000149554"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ddr","replication-stress"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHEK1","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1925","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1925","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14757","url":"https://www.uniprot.org/uniprotkb/O14757/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CHEK1","url":"https://civicdb.org/features/981","note":"2 evidence items, 0 assertions, 2 variants; diseases: Lung Small Cell Carcinoma, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists CHEK1 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA CHEK1: RNA tissue enhanced (bone marrow 25 nTPM, lymphoid tissue 20 nTPM, seminal vesicle 29 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CHEK1 tissue","url":"https://www.proteinatlas.org/ENSG00000149554-CHEK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000149554 associations","url":"https://platform.opentargets.org/target/ENSG00000149554/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1925","ensembl":"ENSG00000149554","uniprot":"O14757","entrez":"1111","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sanchez et al, Science, 1997, \"Conservation of the Chk1 checkpoint pathway in mammals: linkage of DNA damage to Cdk regulation through Cdc25\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9278511/","biology":"Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest and activation of DNA repair in response to the presence of DNA damage or unreplicated DNA. May also negatively regulate cell cycle progression during unperturbed cell cycles. This regulation is achieved by a number of mechanisms that together help to preserve the integrity of the genome. Recognises the substrate consensus sequence [R-X-X-S/T]. Binds to and phosphorylates CDC25A, CDC25B and CDC25C. Phosphorylation of CDC25A at 'Ser-178' and 'Thr-507' and phosphorylation of CDC25C at 'Ser-216' creates binding sites for 14-3-3 proteins which inhibit CDC25A and CDC25C. Location: Nucleus; Chromosome; Cytoplasm; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 11q24.2 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease","Small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"chek2","kind":"target","name":"CHEK2","aka":["checkpoint kinase 2","Serine/threonine-protein kinase Chk2","CDS1","CHK2","HuCds1","PP1425","bA444G7","RAD53"],"tldr":"CHEK2 (Serine/threonine-protein kinase Chk2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Prostate cancer, Sarcomas and 5 more.","summary":"Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T].\n\nCIViC holds 9 clinical evidence items and 0 assertions across 6 variants, naming Olaparib, Enzalutamide and Talazoparib. Open Targets scores its association with cancer at 0.91 (direct and indirect evidence; datatypes genetic literature 0.86, clinical 0.19, affected pathway 0.76, literature 0.99, genetic association 0.95, somatic mutation 0.88). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16627","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16627"},{"label":"UniProt O96017","url":"https://www.uniprot.org/uniprotkb/O96017/entry"},{"label":"NCBI Gene 11200","url":"https://www.ncbi.nlm.nih.gov/gene/11200"},{"label":"Ensembl ENSG00000183765","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183765"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","prostate","sarcoma","colorectal","ovarian","lung-cancer","thyroid","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["homologous-recombination-repair"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.19; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 9 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHEK2","role":["drug-target","oncogene-driver","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16627","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16627","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O96017","url":"https://www.uniprot.org/uniprotkb/O96017/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CHEK2","url":"https://civicdb.org/features/8950","note":"9 evidence items, 0 assertions, 6 variants; diseases: Prostate Cancer, Cancer, Castration-resistant Prostate Carcinoma, Breast Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000183765","url":"https://platform.opentargets.org/target/ENSG00000183765/associations","note":"association with cancer (MONDO_0004992) 0.91; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.58, colorectal cancer 0.74, gastric cancer 0.63, prostate cancer 0.80, ovarian cancer 0.73, endometrial cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen CHEK2","url":"https://www.intogen.org/search?gene=CHEK2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CHEK2: RNA low tissue specificity; high antibody staining in 21 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Prostate cancer, Sarcomas (soft tissue, bone, GIST), Colorectal cancer, Ovarian cancer, Lung cancer (all types), Thyroid cancer and more); Open Targets associates it with 23 specific cancer types at or above 0.5 (breast cancer, breast carcinoma, hereditary breast carcinoma, bone osteosarcoma, Li-Fraumeni syndrome, prostate cancer and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O96017","url":"https://www.uniprot.org/uniprotkb/O96017/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CHEK2","url":"https://civicdb.org/features/8950","note":"9 evidence items, 0 assertions, 6 variants; diseases: Prostate Cancer, Cancer, Castration-resistant Prostate Carcinoma, Breast Cancer (GraphQL API, CC0)"},{"label":"IntOGen CHEK2","url":"https://www.intogen.org/search?gene=CHEK2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CHEK2 tissue","url":"https://www.proteinatlas.org/ENSG00000183765-CHEK2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183765 associations","url":"https://platform.opentargets.org/target/ENSG00000183765/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16627","ensembl":"ENSG00000183765","uniprot":"O96017","entrez":"11200","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Matsuoka et al, Science, 1998, \"Linkage of ATM to cell cycle regulation by the Chk2 protein kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9836640/","biology":"Serine/threonine-protein kinase which is required for checkpoint-mediated cell cycle arrest, activation of DNA repair and apoptosis in response to the presence of DNA double-strand breaks. May also negatively regulate cell cycle progression during unperturbed cell cycles. Following activation, phosphorylates numerous effectors preferentially at the consensus sequence [L-X-R-X-X-S/T]. Regulates cell cycle checkpoint arrest through phosphorylation of CDC25A, CDC25B and CDC25C, inhibiting their activity. Inhibition of CDC25 phosphatase activity leads to increased inhibitory tyrosine phosphorylation of CDK-cyclin complexes and blocks cell cycle progression. May also phosphorylate NEK6 which is involved in G2/M cell cycle arrest. Location: Nucleus; Nucleus, PML body; Nucleus, nucleoplasm (UniProt). Locus 22q12.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.87 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Prostate cancer: Open Targets association 0.80 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Sarcomas: Open Targets association 0.75 with sarcoma (MONDO_0005089)","Colorectal cancer: Open Targets association 0.74 with colorectal cancer (MONDO_0005575)","Ovarian cancer: Open Targets association 0.73 with ovarian cancer (MONDO_0008170)","Lung cancer: Open Targets association 0.69 with lung cancer (MONDO_0008903)"],"targetClass":"kinase","prevalence":[]},{"id":"chmp4c","kind":"target","name":"CHMP4C","aka":["charged multivesicular body protein 4C","Charged multivesicular body protein 4c","MGC22825","Shax3","VPS32C"],"tldr":"CHMP4C (Charged multivesicular body protein 4c) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30599","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30599"},{"label":"UniProt Q96CF2","url":"https://www.uniprot.org/uniprotkb/Q96CF2/entry"},{"label":"NCBI Gene 92421","url":"https://www.ncbi.nlm.nih.gov/gene/92421"},{"label":"Ensembl ENSG00000164695","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164695"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHMP4C","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:30599","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30599","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96CF2","url":"https://www.uniprot.org/uniprotkb/Q96CF2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164695","url":"https://platform.opentargets.org/target/ENSG00000164695/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:30599","ensembl":"ENSG00000164695","uniprot":"Q96CF2","entrez":"92421","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Katoh et al, Arch. Biochem. Biophys, 2004, \"CHMP4b is a major binding partner of the ALG-2-interacting protein Alix among the three CHMP4 isoforms\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14678797/","biology":"Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: upon phosphorylation by AURKB, together with ZFYVE19/ANCHR, retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signalling is terminated at late cytokinesis. Location: Cytoplasm, cytosol; Late endosome membrane; Midbody, Midbody ring (UniProt). Locus 8q21.13 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"chrdl1","kind":"target","name":"CHRDL1","aka":["chordin like 1","Chordin-like protein 1","NRLN1","MGC1"],"tldr":"CHRDL1 (Chordin-like protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts.","summary":"Antagonises the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Low-Grade Glioma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29861","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29861"},{"label":"UniProt Q9BU40","url":"https://www.uniprot.org/uniprotkb/Q9BU40/entry"},{"label":"NCBI Gene 91851","url":"https://www.ncbi.nlm.nih.gov/gene/91851"},{"label":"Ensembl ENSG00000101938","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101938"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHRDL1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:29861","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29861","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BU40","url":"https://www.uniprot.org/uniprotkb/Q9BU40/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CHRDL1","url":"https://www.intogen.org/search?gene=CHRDL1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:29861","ensembl":"ENSG00000101938","uniprot":"Q9BU40","entrez":"91851","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Antagonises the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation. May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Location: Secreted (UniProt). Locus Xq23 (HGNC).","whereFound":[],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"chrna3","kind":"target","name":"CHRNA3","aka":["cholinergic receptor nicotinic alpha 3 subunit","Neuronal acetylcholine receptor subunit alpha-3"],"tldr":"CHRNA3 (Neuronal acetylcholine receptor subunit alpha-3) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitisation kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators. CHRNA3 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4, with CHRNA5, and CHRNB3 as accesory subunits.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.70, animal model 0.48, genetic association 0.60, somatic mutation 0.28).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1957","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1957"},{"label":"UniProt P32297","url":"https://www.uniprot.org/uniprotkb/P32297/entry"},{"label":"NCBI Gene 1136","url":"https://www.ncbi.nlm.nih.gov/gene/1136"},{"label":"Ensembl ENSG00000080644","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000080644"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHRNA3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1957","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1957","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P32297","url":"https://www.uniprot.org/uniprotkb/P32297/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000080644","url":"https://platform.opentargets.org/target/ENSG00000080644/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1957","ensembl":"ENSG00000080644","uniprot":"P32297","entrez":"1136","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fornasari et al, Neurosci. Lett, 1990, \"Molecular cloning of human neuronal nicotinic receptor alpha 3-subunit\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2336208/","biology":"Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitisation kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators. CHRNA3 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4, with CHRNA5, and CHRNB3 as accesory subunits. CHRNA3:CHRNB4 being predominant in neurons of the autonomic ganglia, it is known as ganglionic nicotinic receptor. CHRNA3:CHRNB4 or CHRNA3:CHRNA5:CHRNB4 play also an important role in the habenulo-interpeduncular tract, modulating the mesolimbic dopamine system and affecting reward circuits and addiction. Hypothalamic CHRNA3:CHRNB4 nAChR activation by nicotine leads to activation of POMC neurons and a decrease in food intake. Location: Synaptic cell membrane; Cell membrane; Endoplasmic reticulum; Golgi apparatus (UniProt). Locus 15q25.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"chrna4","kind":"target","name":"CHRNA4","aka":["cholinergic receptor nicotinic alpha 4 subunit","Neuronal acetylcholine receptor subunit alpha-4","EBN1"],"tldr":"CHRNA4 (Neuronal acetylcholine receptor subunit alpha-4) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer.","summary":"Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitisation kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators. CHRNA4 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4, as well as CHRNA5 and CHRNB3 as accesory subunits.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.68, genetic association 0.60, clinical 0.55).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1958","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1958"},{"label":"UniProt P43681","url":"https://www.uniprot.org/uniprotkb/P43681/entry"},{"label":"NCBI Gene 1137","url":"https://www.ncbi.nlm.nih.gov/gene/1137"},{"label":"Ensembl ENSG00000101204","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101204"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.55. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHRNA4","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1958","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1958","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P43681","url":"https://www.uniprot.org/uniprotkb/P43681/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000101204","url":"https://platform.opentargets.org/target/ENSG00000101204/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: lung cancer 0.51 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CHRNA4: RNA tissue enriched (liver 83 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (lung cancer). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CHRNA4 tissue","url":"https://www.proteinatlas.org/ENSG00000101204-CHRNA4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000101204 associations","url":"https://platform.opentargets.org/target/ENSG00000101204/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1958","ensembl":"ENSG00000101204","uniprot":"P43681","entrez":"1137","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Monteggia L.M. et al, Gene, 1995, \"Cloning and transient expression of genes encoding the human alpha-4 and beta-2 neuronal nicotinic acetylcholine receptor (nAChR) subunits\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7721089/","biology":"Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitisation kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators. CHRNA4 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4, as well as CHRNA5 and CHRNB3 as accesory subunits. Is the most abundant nAChR subtype expressed in the central nervous system. Found in two major stoichiometric forms,(CHRNA4)3:(CHRNB2)2 and (CHRNA4)2:(CHRNB2)3, the two stoichiometric forms differ in their unitary conductance, calcium permeability, ACh sensitivity and potentiation by divalent cation. Involved in the modulation of calcium-dependent signalling pathways, influences the release of neurotransmitters, including dopamine, glutamate and GABA. Location: Synaptic cell membrane; Cell membrane (UniProt). Locus 20q13.33 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)"],"targetClass":"other","prevalence":[]},{"id":"chrna5","kind":"target","name":"CHRNA5","aka":["cholinergic receptor nicotinic alpha 5 subunit","Neuronal acetylcholine receptor subunit alpha-5"],"tldr":"CHRNA5 (Neuronal acetylcholine receptor subunit alpha-5) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Lung cancer.","summary":"Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitisation kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators. Has an accessory rather than functional role and is only able to form functional nAChRs when co-assembled with another beta subunit.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.65, somatic mutation 0.26).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1959","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1959"},{"label":"UniProt P30532","url":"https://www.uniprot.org/uniprotkb/P30532/entry"},{"label":"NCBI Gene 1138","url":"https://www.ncbi.nlm.nih.gov/gene/1138"},{"label":"Ensembl ENSG00000169684","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169684"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CHRNA5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1959","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1959","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30532","url":"https://www.uniprot.org/uniprotkb/P30532/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000169684","url":"https://platform.opentargets.org/target/ENSG00000169684/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: lung cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1959","ensembl":"ENSG00000169684","uniprot":"P30532","entrez":"1138","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chini et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Neuronal-type alpha-bungarotoxin receptors and the alpha 5-nicotinic receptor subunit gene are expressed in neuronal and nonneuronal human cell lines\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1542648/","biology":"Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitisation kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators. Has an accessory rather than functional role and is only able to form functional nAChRs when co-assembled with another beta subunit. Participates in pentameric assemblies along with CHRNA3, CHRNA4, CHRNB2 and CHRNB4. Increases receptor sensitivity to acetylcholine and nicotine when associated with CHRNA4 and CHRNB2. Plays a role in nicotine addiction. Location: Synaptic cell membrane; Cell membrane (UniProt). Locus 15q25.1 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)"],"targetClass":"other","prevalence":[]},{"id":"cic","kind":"target","name":"CIC","aka":["capicua transcriptional repressor","Protein capicua homolog","KIAA0306"],"tldr":"CIC (Protein capicua homolog) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Lung cancer, Pancreatic ductal adenocarcinoma and 4 more.","summary":"Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development.\n\nCIViC holds 11 clinical evidence items and 0 assertions across 3 variants, naming Trametinib, Vemurafenib and Selumetinib. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.76, genetic association 0.00, somatic mutation 0.85). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Hepatocellular Carcinoma, Low-Grade Glioma, NOS, Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14214","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14214"},{"label":"UniProt Q96RK0","url":"https://www.uniprot.org/uniprotkb/Q96RK0/entry"},{"label":"NCBI Gene 23152","url":"https://www.ncbi.nlm.nih.gov/gene/23152"},{"label":"Ensembl ENSG00000079432","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000079432"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","lung-cancer","pancreatic","hcc","skin-cancer","melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct05491525"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 11 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CIC","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14214","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14214","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96RK0","url":"https://www.uniprot.org/uniprotkb/Q96RK0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CIC","url":"https://civicdb.org/features/9326","note":"11 evidence items, 0 assertions, 3 variants; diseases: Lung Cancer, Melanoma, Colon Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000079432","url":"https://platform.opentargets.org/target/ENSG00000079432/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: colorectal cancer 0.54, melanoma 0.55, skin cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen CIC","url":"https://www.intogen.org/search?gene=CIC","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CIC: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining breast cancer (8 of 10 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types), Pancreatic ductal adenocarcinoma, Hepatocellular carcinoma, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q96RK0","url":"https://www.uniprot.org/uniprotkb/Q96RK0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CIC","url":"https://civicdb.org/features/9326","note":"11 evidence items, 0 assertions, 3 variants; diseases: Lung Cancer, Melanoma, Colon Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"IntOGen CIC","url":"https://www.intogen.org/search?gene=CIC","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CIC tissue","url":"https://www.proteinatlas.org/ENSG00000079432-CIC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000079432 associations","url":"https://platform.opentargets.org/target/ENSG00000079432/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14214","ensembl":"ENSG00000079432","uniprot":"Q96RK0","entrez":"23152","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9205841/","biology":"Transcriptional repressor which plays a role in development of the central nervous system (CNS). In concert with ATXN1 and ATXN1L, involved in brain development. Location: Nucleus (UniProt). Locus 19q13.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Lung cancer: CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"ciita","kind":"target","name":"CIITA","aka":["class II major histocompatibility complex transactivator","MHC class II transactivator","C2TA","MHC2TA"],"tldr":"CIITA (MHC class II transactivator) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Head and neck squamous cell carcinoma, Skin cancer, Colorectal cancer and 4 more.","summary":"Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. Does not bind DNA. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both PubMed:8402893, PubMed:7749984,.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.00, somatic mutation 0.83). IntOGen calls it a driver in 3 cohorts (2 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Head and Neck Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7067","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7067"},{"label":"UniProt P33076","url":"https://www.uniprot.org/uniprotkb/P33076/entry"},{"label":"NCBI Gene 4261","url":"https://www.ncbi.nlm.nih.gov/gene/4261"},{"label":"Ensembl ENSG00000179583","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000179583"},{"label":"Green et al., Blood 2010: selective 9p24.1 amplification and PD-1 ligand induction through JAK2 in Hodgkin lymphoma and mediastinal large B-cell lymphoma","url":"https://doi.org/10.1182/blood-2010-05-282780"},{"label":"Roemer et al., J Clin Oncol 2016: PD-L1 and PD-L2 genetic alterations in 108 classical Hodgkin lymphomas","url":"https://doi.org/10.1200/JCO.2016.66.4482"},{"label":"Steidl et al., Nature 2011: CIITA is a recurrent fusion partner in primary mediastinal B-cell lymphoma and classical Hodgkin lymphoma","url":"https://doi.org/10.1038/nature09754"},{"label":"Ansell et al., N Engl J Med 2015: nivolumab in relapsed or refractory Hodgkin lymphoma (23 patients)","url":"https://doi.org/10.1056/NEJMoa1411087"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["head-and-neck","skin-cancer","colorectal","lung-cancer","non-hodgkin-lymphoma","dlbcl","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["pd1-checkpoint","jak-stat","antigen-presentation-immunoediting"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, 9p24.1 amplification of CD274, PDCD1LG2 and JAK2: The amplicon contains the genes for both PD-1 ligands and the kinase that induces them, so a single copy-number event raises the ligands twice over, by gene dose and by JAK2-driven transcription (Green 2010). It is the clearest example in oncology of a tumour genetically buying its way out of T-cell attack. Alongside it, CIITA, the master transactivator of MHC class II, is broken by recurrent fusions, which lowers class II on the tumour cell and, in the same rearrangements, places PD-L1 and PD-L2 under new promoters. Frequency: In 108 newly diagnosed classical Hodgkin lymphomas evaluated by fluorescence in situ hybridisation, 97% had concordant alterations of both loci: polysomy in 5% (5 of 108), copy gain in 56% (61 of 108) and amplification in 36% (39 of 108), and higher-level gain predicted shorter progression-free survival (Roemer 2016). Genomic CIITA breaks in 38% of primary mediastinal B-cell lymphomas and 15% of classical Hodgkin lymphomas across 263 B-cell lymphomas (Steidl 2011). What it changes about treatment: Yes, and it is the reason for the sharpest contrast in lymphoma immunotherapy. PD-1 blockade produced an objective response in 20 of 23 heavily pre-treated Hodgkin patients, 87%, in the first study, in a disease where most had already failed both transplant and brentuximab vedotin (Ansell 2015); in B-cell non-Hodgkin lymphoma outside the mediastinal group, single-agent checkpoint blockade does very little. Nothing is tested before a Hodgkin patient is given a checkpoint inhibitor, because the alteration is nearly universal."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CIITA","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7067","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7067","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P33076","url":"https://www.uniprot.org/uniprotkb/P33076/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CIITA","url":"https://civicdb.org/features/3512","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000179583","url":"https://platform.opentargets.org/target/ENSG00000179583/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: colorectal cancer 0.52, melanoma 0.56, non-Hodgkin lymphoma 0.50, skin cancer 0.55, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen CIITA","url":"https://www.intogen.org/search?gene=CIITA","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CIITA: RNA tissue enhanced (lymphoid tissue 50 nTPM); high antibody staining in 10 normal tissues; highest cancer staining lymphoma (9 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma, Skin cancer (all types), Colorectal cancer, Lung cancer (all types), Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P33076","url":"https://www.uniprot.org/uniprotkb/P33076/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CIITA","url":"https://civicdb.org/features/3512","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen CIITA","url":"https://www.intogen.org/search?gene=CIITA","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CIITA tissue","url":"https://www.proteinatlas.org/ENSG00000179583-CIITA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000179583 associations","url":"https://platform.opentargets.org/target/ENSG00000179583/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7067","ensembl":"ENSG00000179583","uniprot":"P33076","entrez":"4261","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Steimle et al, Cell, 1993, \"Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8402893/","biology":"Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. Does not bind DNA. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both PubMed:8402893, PubMed:7749984,. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter. Also mediates enhanced MHC class I transcription; the promoter element requirements for CIITA-mediated transcription are distinct from those of constitutive MHC class I transcription, and CIITA can functionally replace TAF1 at these genes. Activates CD74 transcription. Location: Nucleus; Nucleus, PML body (UniProt). Locus 16p13.13 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.50 with non-Hodgkin lymphoma (MONDO_0018908)","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 2 cohorts (DLBCLNOS)"],"targetClass":"kinase","prevalence":[]},{"id":"cip2a","kind":"target","name":"CIP2A","aka":["cellular inhibitor of PP2A","KIAA1524"],"tldr":"CIP2A (cellular inhibitor of PP2A) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma.","summary":"Acts as an inhibitor of protein phosphatase PP2A. Promotes anchorage-independent cell growth and tumour formation by preventing dephosphorylation of MYC, thereby stabilising MYC in human malignancies. Together with TOPBP1, plays an essential role in the response to genome instability generated by the presence of acentric chromosome fragments derived from shattered chromosomes within micronuclei.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Gemcitabine.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29302","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29302"},{"label":"UniProt Q8TCG1","url":"https://www.uniprot.org/uniprotkb/Q8TCG1/entry"},{"label":"NCBI Gene 57650","url":"https://www.ncbi.nlm.nih.gov/gene/57650"},{"label":"Ensembl ENSG00000163507","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163507"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt keyword \"DNA damage\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CIP2A","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29302","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29302","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8TCG1","url":"https://www.uniprot.org/uniprotkb/Q8TCG1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CIP2A","url":"https://civicdb.org/features/13948","note":"2 evidence items, 0 assertions, 2 variants; diseases: Pancreatic Ductal Adenocarcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA CIP2A: RNA low tissue specificity; high antibody staining in 18 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CIP2A tissue","url":"https://www.proteinatlas.org/ENSG00000163507-CIP2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163507 associations","url":"https://platform.opentargets.org/target/ENSG00000163507/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29302","ensembl":"ENSG00000163507","uniprot":"Q8TCG1","entrez":"57650","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10819331/","biology":"Acts as an inhibitor of protein phosphatase PP2A. Promotes anchorage-independent cell growth and tumour formation by preventing dephosphorylation of MYC, thereby stabilising MYC in human malignancies. Together with TOPBP1, plays an essential role in the response to genome instability generated by the presence of acentric chromosome fragments derived from shattered chromosomes within micronuclei. Micronuclei, which are frequently found in cancer cells, consist of chromatin surrounded by their own nuclear membrane: following breakdown of the micronuclear envelope, a process associated with chromothripsis, the CIP2A-TOPBP1 complex tethers chromosome fragments during mitosis to ensure clustered segregation of the fragments to a single daughter cell nucleus, facilitating re-ligation with limited chromosome scattering and loss. Location: Cytoplasm; Chromosome (UniProt). Locus 3q13.13 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"cldn18-2","kind":"target","name":"Claudin 18.2","aka":[],"tldr":"A tight-junction protein normally hidden in the stomach lining that becomes exposed in gastric and pancreatic cancers.","summary":"CLDN18.2 is normally buried in tight junctions of gastric mucosa; malignant transformation exposes it on the cell surface. Zolbetuximab (Vyloy) is approved with chemotherapy in CLDN18.2-positive gastric cancer. ADCs (CMG901/AZD0901, XNW27011), CAR-T (satricabtagene autoleucel, CT041), and bispecifics are in late-stage development.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CLDN18","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CLDN18"}],"tags":["adc-target","car-t-target"],"related":["cldn6","cldn18-2-expression"],"cancers":["gastric","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":["lm-302","asp2138","m108","ibi343","xnw27011","azd4360","tac01-cldn18-2","lcb02a","rc118-adc","bdc-4182","lb4330","spevatamig","azd5863"],"companies":["xilio-therapeutics"],"institutions":[],"pathways":["gastric-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CLDN18","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression or amplification: 1 of 1 label readouts filed under it score protein level or gene copies (Claudin 18.2 expression (>= 75% of tumour cells, moderate to strong)), so the medicines rely on the tumour carrying more of it than normal tissue. HPA CLDN18: RNA group enriched (lung 238 nTPM, stomach 1 684 nTPM); high antibody staining in 1 normal tissue; highest cancer staining ovarian cancer (4 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Pancreatic ductal adenocarcinoma); approvals of single-target medicines aimed at it also list Oesophageal cancer, not counted; Open Targets associates it with 1 specific cancer type at or above 0.5 (gastric adenocarcinoma). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Claudin 18.2 expression (>= 75% of tumour cells, moderate to strong) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=e7695a21-abb6-47ac-93f8-0ece5a9c4409","note":">= 75% of tumour cells with moderate to strong membranous staining"},{"label":"Human Protein Atlas CLDN18 tissue","url":"https://www.proteinatlas.org/ENSG00000066405-CLDN18/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CLDN18 pathology","url":"https://www.proteinatlas.org/ENSG00000066405-CLDN18/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000066405 associations","url":"https://platform.opentargets.org/target/ENSG00000066405/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2039","ensembl":"ENSG00000066405","uniprot":"P56856","entrez":"51208","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Niimi et al, Mol. Cell. Biol, 2001, \"Claudin-18, a novel downstream target gene for the T/EBP/NKX2.1 homeodomain transcription factor, encodes lung- and stomach-specific isoforms through alternative splicing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11585919/","biology":"Splice isoform 18.2; expressed in ~30-40% of gastric/GEJ adenocarcinomas and a subset of pancreatic ductal adenocarcinoma.","whereFound":["Gastric/GEJ adenocarcinoma","Pancreatic ductal adenocarcinoma","Biliary"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"gastric","pct":"35-40","measure":"IHC 2+/3+ in >=75% of cells (zolbetuximab definition)","source":"https://en.wikipedia.org/wiki/Zolbetuximab","note":"SPOTLIGHT/GLOW screening"},{"cancerId":"pancreatic","pct":"20-60","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/CLDN18","note":"Wide range across series"}]},{"id":"cldn6","kind":"target","name":"Claudin 6","aka":[],"tldr":"A tight-junction protein normally found only in the embryo that reappears in ovarian, testicular, endometrial and lung cancers, making it a clean target for ADCs and CAR-T.","summary":"Claudin 6 is an oncofetal antigen essentially absent from adult tissue, unlike its relative CLDN18.2 (gastric mucosa). It is expressed in ~50-60% of ovarian and testicular germ cell tumours, and subsets of endometrial, lung and gastric cancers. TORL-1-23 (ADC) is in phase 2/3 in ovarian cancer; BNT211 (CAR-T with an amplifying mRNA vaccine, CARVac) reported responses in germ cell tumours; DS-9606 is another ADC. Sequence similarity to CLDN9 and CLDN4 requires highly selective antibodies.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/CLDN6","links":[{"label":"BNT211 CARVac (Nat Med 2023)","url":"https://doi.org/10.1038/s41591-023-02612-0"}],"tags":["gap-fill"],"related":["cldn18-2"],"cancers":["ovarian","testicular","endometrial","nsclc"],"sections":[],"technologies":["adc","car-t","neoantigen-mrna-vaccine"],"targets":[],"drugs":[],"companies":["biontech","daiichi-sankyo"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-mackensen-nat-med"],"journals":[],"dependsOn":[],"notes":[],"symbol":"CLDN6","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:2048","ensembl":"ENSG00000184697","uniprot":"P56747","entrez":"9074","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Keen T.J. et al, 1999.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P56747/entry","biology":"Four-transmembrane tight-junction claudin expressed in embryonic epithelia and germ cells; silenced after development, re-expressed in cancers via epigenetic derepression.","whereFound":["Ovarian cancer (~50-60%)","Testicular germ cell tumours (>90%)","Endometrial cancer (~30%)","NSCLC adenocarcinoma and gastric cancer (subsets)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"ovarian","pct":"50-60","measure":"IHC positivity","note":"varies by antibody and cutoff"},{"cancerId":"testicular","pct":"90","measure":"IHC positivity"}]},{"id":"clcn6","kind":"target","name":"CLCN6","aka":["Cl-/H+ antiporter 6","H(+)/Cl(-) exchange transporter 6","CLC-6","KIAA0046","ClC-6"],"tldr":"CLCN6 (H(+)/Cl(-) exchange transporter 6) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the late endosome lumen. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.16, affected pathway 0.89, genetic association 0.05).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2024","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2024"},{"label":"UniProt P51797","url":"https://www.uniprot.org/uniprotkb/P51797/entry"},{"label":"NCBI Gene 1185","url":"https://www.ncbi.nlm.nih.gov/gene/1185"},{"label":"Ensembl ENSG00000011021","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000011021"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CLCN6","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2024","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2024","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51797","url":"https://www.uniprot.org/uniprotkb/P51797/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000011021","url":"https://platform.opentargets.org/target/ENSG00000011021/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2024","ensembl":"ENSG00000011021","uniprot":"P51797","entrez":"1185","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584044/","biology":"Voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the late endosome lumen. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters. Location: Late endosome membrane (UniProt). Locus 1p36.22 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"clip1","kind":"target","name":"CLIP1","aka":["CAP-Gly domain containing linker protein 1","CAP-Gly domain-containing linker protein 1","CYLN1","CLIP170","CLIP-170"],"tldr":"CLIP1 (CAP-Gly domain-containing linker protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Lung cancer, Cervical cancer, Oesophageal cancer and 2 more.","summary":"Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth and microtubule bundling. Links cytoplasmic vesicles to microtubules and thereby plays an important role in intracellular vesicle trafficking.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.86, affected pathway 0.93, genetic association 0.00, somatic mutation 0.45). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Cervical Squamous Cell Carcinoma, Oesophageal Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10461","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10461"},{"label":"UniProt P30622","url":"https://www.uniprot.org/uniprotkb/P30622/entry"},{"label":"NCBI Gene 6249","url":"https://www.ncbi.nlm.nih.gov/gene/6249"},{"label":"Ensembl ENSG00000130779","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130779"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","cervical","esophageal","nsclc","oesophageal-squamous-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CLIP1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10461","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10461","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30622","url":"https://www.uniprot.org/uniprotkb/P30622/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000130779","url":"https://platform.opentargets.org/target/ENSG00000130779/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.59, lung cancer 0.60 (GraphQL API, CC0)"},{"label":"IntOGen CLIP1","url":"https://www.intogen.org/search?gene=CLIP1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10461","ensembl":"ENSG00000130779","uniprot":"P30622","entrez":"6249","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bilbe et al, EMBO J, 1992, \"Restin: a novel intermediate filament-associated protein highly expressed in the Reed-Sternberg cells of Hodgkin's disease\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1600942/","biology":"Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth and microtubule bundling. Links cytoplasmic vesicles to microtubules and thereby plays an important role in intracellular vesicle trafficking. Plays a role macropinocytosis and endosome trafficking. Location: Cytoplasm; Cytoplasm, cytoskeleton; Cytoplasmic vesicle membrane; Cell projection, ruffle (UniProt). Locus 12q24.31 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Cervical cancer: IntOGen driver in 1 cohort (CESC)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCC)","Non-small-cell lung cancer: Open Targets association 0.59 with non-small cell lung carcinoma (MONDO_0005233)","Oesophageal squamous cell carcinoma: IntOGen driver in 1 cohort (ESCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"clptm1l","kind":"target","name":"CLPTM1L","aka":["CLPTM1 like","Lipid scramblase CLPTM1L","FLJ14400","CRR9"],"tldr":"CLPTM1L (Lipid scramblase CLPTM1L) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Scramblase that mediates the translocation of glucosaminylphosphatidylinositol (alpha-D-GlcN-(1-6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol, GlcN-PI) across the endoplasmic reticulum (ER) membrane, from the cytosolic leaflet to the luminal leaflet of the ER membrane, where it participates in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a lipid glycoconjugate involved in post-translational modification of proteins. Can also translocate 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) (phosphatidylinositol or PI), as well as several other phospholipids (1,2-diacyl-sn-glycero-3-phosphocholine, 1,2-diacyl-sn-glycero-3-phosphoethanolamine), and N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI) in vitro.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.95, animal model 0.30, genetic association 0.63, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24308","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24308"},{"label":"UniProt Q96KA5","url":"https://www.uniprot.org/uniprotkb/Q96KA5/entry"},{"label":"NCBI Gene 81037","url":"https://www.ncbi.nlm.nih.gov/gene/81037"},{"label":"Ensembl ENSG00000049656","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000049656"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CLPTM1L","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:24308","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24308","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96KA5","url":"https://www.uniprot.org/uniprotkb/Q96KA5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000049656","url":"https://platform.opentargets.org/target/ENSG00000049656/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:24308","ensembl":"ENSG00000049656","uniprot":"Q96KA5","entrez":"81037","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamamoto et al, Biochem. Biophys. Res. Commun, 2001, \"A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11162647/","biology":"Scramblase that mediates the translocation of glucosaminylphosphatidylinositol (alpha-D-GlcN-(1-6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol, GlcN-PI) across the endoplasmic reticulum (ER) membrane, from the cytosolic leaflet to the luminal leaflet of the ER membrane, where it participates in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a lipid glycoconjugate involved in post-translational modification of proteins. Can also translocate 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) (phosphatidylinositol or PI), as well as several other phospholipids (1,2-diacyl-sn-glycero-3-phosphocholine, 1,2-diacyl-sn-glycero-3-phosphoethanolamine), and N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI) in vitro. Location: Endoplasmic reticulum membrane (UniProt). Locus 5p15.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"cltc","kind":"target","name":"CLTC","aka":["clathrin heavy chain","Clathrin heavy chain 1","Hc","CLTCL2"],"tldr":"CLTC (Clathrin heavy chain 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Renal cell carcinoma, Hepatocellular carcinoma and 5 more.","summary":"Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilisation of kinetochore fibres of the mitotic spindle by acting as inter-microtubule bridge.\n\nOpen Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.84, affected pathway 0.94, genetic association 0.00, somatic mutation 0.85). IntOGen calls it a driver in 5 cohorts (3 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Hepatocellular Carcinoma, Upper Tract Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2092","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2092"},{"label":"UniProt Q00610","url":"https://www.uniprot.org/uniprotkb/Q00610/entry"},{"label":"NCBI Gene 1213","url":"https://www.ncbi.nlm.nih.gov/gene/1213"},{"label":"Ensembl ENSG00000141367","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141367"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","rcc","hcc","urothelial","non-hodgkin-lymphoma","lung-cancer","clear-cell-rcc","cholangiocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CLTC","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2092","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2092","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q00610","url":"https://www.uniprot.org/uniprotkb/Q00610/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141367","url":"https://platform.opentargets.org/target/ENSG00000141367/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.51, melanoma 0.51, non-Hodgkin lymphoma 0.53, breast cancer 0.55, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen CLTC","url":"https://www.intogen.org/search?gene=CLTC","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2092","ensembl":"ENSG00000141367","uniprot":"Q00610","entrez":"1213","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dodge G.R. et al, Genomics, 1991, \"Human clathrin heavy chain (CLTC): partial molecular cloning, expression, and mapping of the gene to human chromosome 17q11-qter\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1765375/","biology":"Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilisation of kinetochore fibres of the mitotic spindle by acting as inter-microtubule bridge. The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fibre tension. Plays a role in early autophagosome formation. Interaction with DNAJC6 mediates the recruitment of HSPA8 to the clathrin lattice and creates local destabilisation of the lattice promoting uncoating. Location: Cytoplasmic vesicle membrane; Membrane, coated pit; Melanosome; Cytoplasm, cytoskeleton, spindle (UniProt). Locus 17q23.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)","Non-Hodgkin lymphoma: Open Targets association 0.53 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)"],"targetClass":"oncogene","prevalence":[]},{"id":"cltcl1","kind":"target","name":"CLTCL1","aka":["clathrin heavy chain like 1","Clathrin heavy chain 2","CLH22","CHC22","CLTCL"],"tldr":"CLTCL1 (Clathrin heavy chain 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Prostate cancer, Skin cancer and 2 more.","summary":"Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.31, genetic association 0.08, somatic mutation 0.84). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Hepatocellular Carcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2093","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2093"},{"label":"UniProt P53675","url":"https://www.uniprot.org/uniprotkb/P53675/entry"},{"label":"NCBI Gene 8218","url":"https://www.ncbi.nlm.nih.gov/gene/8218"},{"label":"Ensembl ENSG00000070371","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000070371"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","prostate","skin-cancer","lung-cancer","breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CLTCL1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2093","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2093","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P53675","url":"https://www.uniprot.org/uniprotkb/P53675/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000070371","url":"https://platform.opentargets.org/target/ENSG00000070371/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: skin cancer 0.52, breast cancer 0.51, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen CLTCL1","url":"https://www.intogen.org/search?gene=CLTCL1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2093","ensembl":"ENSG00000070371","uniprot":"P53675","entrez":"8218","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sirotkin et al, Hum. Mol. Genet, 1996, \"Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8733128/","biology":"Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Location: Cytoplasmic vesicle membrane; Membrane, coated pit (UniProt). Locus 22q11.21 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"cmtr2","kind":"target","name":"CMTR2","aka":["cap methyltransferase 2","Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2","FLJ11171","MTr2","FTSJD1"],"tldr":"CMTR2 (Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) (cap0) to produce m(7)GpppRmpNm (cap2). Recognises a guanosine cap on RNA independently of its N(7) methylation status.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25635","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25635"},{"label":"UniProt Q8IYT2","url":"https://www.uniprot.org/uniprotkb/Q8IYT2/entry"},{"label":"NCBI Gene 55783","url":"https://www.ncbi.nlm.nih.gov/gene/55783"},{"label":"Ensembl ENSG00000180917","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000180917"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CMTR2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:25635","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25635","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IYT2","url":"https://www.uniprot.org/uniprotkb/Q8IYT2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CMTR2","url":"https://www.intogen.org/search?gene=CMTR2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:25635","ensembl":"ENSG00000180917","uniprot":"Q8IYT2","entrez":"55783","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zan et al, 2001.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8IYT2/entry","biology":"S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap2 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the second nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) (cap0) to produce m(7)GpppRmpNm (cap2). Recognises a guanosine cap on RNA independently of its N(7) methylation status. Display cap2 methylation on both cap0 and cap1. Displays a preference for cap1 RNAs. Location: Nucleus; Cytoplasm (UniProt). Locus 16q22.2 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"cnbp","kind":"target","name":"CNBP","aka":["CCHC-type zinc finger nucleic acid binding protein","RNF163","ZCCHC22","CNBP1","DM2","ZNF9"],"tldr":"CNBP (CCHC-type zinc finger nucleic acid binding protein) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Single-stranded DNA-binding protein that preferentially binds to the sterol regulatory element (SRE) sequence 5'-GTGCGGTG-3', and thereby mediates transcriptional repression. Has a role as transactivator of the Myc promoter. Binds single-stranded RNA in a sequence-specific manner.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.88, animal model 0.50, genetic association 0.00, somatic mutation 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13164","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13164"},{"label":"UniProt P62633","url":"https://www.uniprot.org/uniprotkb/P62633/entry"},{"label":"NCBI Gene 7555","url":"https://www.ncbi.nlm.nih.gov/gene/7555"},{"label":"Ensembl ENSG00000169714","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169714"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CNBP","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13164","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13164","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62633","url":"https://www.uniprot.org/uniprotkb/P62633/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000169714","url":"https://platform.opentargets.org/target/ENSG00000169714/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:13164","ensembl":"ENSG00000169714","uniprot":"P62633","entrez":"7555","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rajavashisth T.B. et al, Science, 1989, \"Identification of a zinc finger protein that binds to the sterol regulatory element\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2562787/","biology":"Single-stranded DNA-binding protein that preferentially binds to the sterol regulatory element (SRE) sequence 5'-GTGCGGTG-3', and thereby mediates transcriptional repression. Has a role as transactivator of the Myc promoter. Binds single-stranded RNA in a sequence-specific manner. Binds G-rich elements in target mRNA coding sequences. Prevents G-quadruplex structure formation in vitro, suggesting a role in supporting translation by resolving stable structures on mRNAs. Binds to RNA. Location: Nucleus; Cytoplasm; Endoplasmic reticulum (UniProt). Locus 3q21.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"cnksr1","kind":"target","name":"CNKSR1","aka":["connector enhancer of kinase suppressor of Ras 1","Connector enhancer of kinase suppressor of ras 1","CNK1"],"tldr":"CNKSR1 (Connector enhancer of kinase suppressor of ras 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"May function as an adapter protein or regulator of Ras signalling pathways.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.65, affected pathway 0.97, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19700"},{"label":"UniProt Q969H4","url":"https://www.uniprot.org/uniprotkb/Q969H4/entry"},{"label":"NCBI Gene 10256","url":"https://www.ncbi.nlm.nih.gov/gene/10256"},{"label":"Ensembl ENSG00000142675","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142675"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CNKSR1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:19700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19700","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q969H4","url":"https://www.uniprot.org/uniprotkb/Q969H4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000142675","url":"https://platform.opentargets.org/target/ENSG00000142675/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:19700","ensembl":"ENSG00000142675","uniprot":"Q969H4","entrez":"10256","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Therrien et al, Cell, 1998, \"CNK, a RAF-binding multidomain protein required for RAS signaling\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9814705/","biology":"May function as an adapter protein or regulator of Ras signalling pathways. Location: Cytoplasm; Membrane (UniProt). Locus 1p36.11 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"cnksr2","kind":"target","name":"CNKSR2","aka":["connector enhancer of kinase suppressor of Ras 2","Connector enhancer of kinase suppressor of ras 2","KIAA0902","CNK2","KSR2"],"tldr":"CNKSR2 (Connector enhancer of kinase suppressor of ras 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"May function as an adapter protein or regulator of Ras signalling pathways.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.90, affected pathway 0.97, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19701","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19701"},{"label":"UniProt Q8WXI2","url":"https://www.uniprot.org/uniprotkb/Q8WXI2/entry"},{"label":"NCBI Gene 22866","url":"https://www.ncbi.nlm.nih.gov/gene/22866"},{"label":"Ensembl ENSG00000149970","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000149970"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CNKSR2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:19701","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19701","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WXI2","url":"https://www.uniprot.org/uniprotkb/Q8WXI2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000149970","url":"https://platform.opentargets.org/target/ENSG00000149970/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:19701","ensembl":"ENSG00000149970","uniprot":"Q8WXI2","entrez":"22866","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10048485/","biology":"May function as an adapter protein or regulator of Ras signalling pathways. Location: Cytoplasm; Membrane (UniProt). Locus Xp22.12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"cnot3","kind":"target","name":"CNOT3","aka":["CCR4-NOT transcription complex subunit 3","NOT3H","KIAA0691","LENG2","NOT3"],"tldr":"CNOT3 (CCR4-NOT transcription complex subunit 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Leukaemia, Non-Hodgkin lymphoma and 4 more.","summary":"Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes affected pathway 0.33, literature 0.72, genetic association 0.00, somatic mutation 0.84, animal model 0.25). IntOGen calls it a driver in 3 cohorts (3 activating, 0 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7879","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7879"},{"label":"UniProt O75175","url":"https://www.uniprot.org/uniprotkb/O75175/entry"},{"label":"NCBI Gene 4849","url":"https://www.ncbi.nlm.nih.gov/gene/4849"},{"label":"Ensembl ENSG00000088038","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000088038"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","leukaemia","non-hodgkin-lymphoma","skin-cancer","cll","melanoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CNOT3","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7879","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7879","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75175","url":"https://www.uniprot.org/uniprotkb/O75175/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000088038","url":"https://platform.opentargets.org/target/ENSG00000088038/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: melanoma 0.55, acute lymphoblastic leukaemia 0.54, non-Hodgkin lymphoma 0.55, skin cancer 0.54, leukaemia 0.56 (GraphQL API, CC0)"},{"label":"IntOGen CNOT3","url":"https://www.intogen.org/search?gene=CNOT3","note":"driver in 3 cohorts (Act 3, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7879","ensembl":"ENSG00000088038","uniprot":"O75175","entrez":"4849","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ishikawa et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9734811/","biology":"Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. May be involved in metabolic regulation; may be involved in recruitment of the CCR4-NOT complex to deadenylation target mRNAs involved in energy metabolism. Involved in mitotic progression and regulation of the spindle assembly checkpoint by regulating the stability of MAD1L1 mRNA. Can repress transcription and may link the CCR4-NOT complex to transcriptional regulation; the repressive function may involve histone deacetylases. Involved in the maintenance of embryonic stem (ES) cell identity. Location: Cytoplasm; Nucleus; Cytoplasm, P-body (UniProt). Locus 19q13.42 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 2 cohorts (PRAD)","Leukaemia: Open Targets association 0.56 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"cnot9","kind":"target","name":"CNOT9","aka":["CCR4-NOT transcription complex subunit 9","RCD1","RCD1+","CT129","CAF40","RQCD1"],"tldr":"CNOT9 (CCR4-NOT transcription complex subunit 9) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Melanoma.","summary":"Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in down-regulation of MYB- and JUN-dependent transcription.\n\nIntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Melanoma, Cutaneous Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10445","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10445"},{"label":"UniProt Q92600","url":"https://www.uniprot.org/uniprotkb/Q92600/entry"},{"label":"NCBI Gene 9125","url":"https://www.ncbi.nlm.nih.gov/gene/9125"},{"label":"Ensembl ENSG00000144580","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144580"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CNOT9","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10445","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10445","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92600","url":"https://www.uniprot.org/uniprotkb/Q92600/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CNOT9","url":"https://www.intogen.org/search?gene=CNOT9","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10445","ensembl":"ENSG00000144580","uniprot":"Q92600","entrez":"9125","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Okazaki et al, Mol. Cell. Biol, 1998, \"Novel factor highly conserved among eukaryotes controls sexual development in fission yeast\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9447985/","biology":"Component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Involved in down-regulation of MYB- and JUN-dependent transcription. May play a role in cell differentiation. Can bind oligonucleotides, such as poly-G, poly-C or poly-T (in vitro), but the physiological relevance of this is not certain. Does not bind poly-A. Location: Nucleus; Cytoplasm, P-body (UniProt). Locus 2q35 (HGNC).","whereFound":["Melanoma: IntOGen driver in 2 cohorts (MEL, SKCM)"],"targetClass":"oncogene","prevalence":[]},{"id":"cntrl","kind":"target","name":"CNTRL","aka":["centriolin","Centriolin","CEP1","CEP110"],"tldr":"CNTRL (Centriolin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Nasopharyngeal carcinoma, Cutaneous squamous cell carcinoma and 1 more.","summary":"Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.71, affected pathway 0.94, genetic association 0.00, somatic mutation 0.45). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Cutaneous Squamous Cell Carcinoma, Nasopharyngeal Carcinoma, Thymoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1858","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1858"},{"label":"UniProt Q7Z7A1","url":"https://www.uniprot.org/uniprotkb/Q7Z7A1/entry"},{"label":"NCBI Gene 11064","url":"https://www.ncbi.nlm.nih.gov/gene/11064"},{"label":"Ensembl ENSG00000119397","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119397"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","nasopharyngeal","cutaneous-scc","thymoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CNTRL","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1858","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1858","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z7A1","url":"https://www.uniprot.org/uniprotkb/Q7Z7A1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000119397","url":"https://platform.opentargets.org/target/ENSG00000119397/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: leukaemia 0.57 (GraphQL API, CC0)"},{"label":"IntOGen CNTRL","url":"https://www.intogen.org/search?gene=CNTRL","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1858","ensembl":"ENSG00000119397","uniprot":"Q7Z7A1","entrez":"11064","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Guasch et al, Blood, 2000, \"FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10688839/","biology":"Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Midbody, Midbody ring (UniProt). Locus 9q33.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Cutaneous squamous cell carcinoma: IntOGen driver in 1 cohort (CSCC)","Thymoma: IntOGen driver in 1 cohort (THYM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"col1a1","kind":"target","name":"COL1A1","aka":["collagen type I alpha 1 chain","Collagen alpha-1(I) chain","OI4"],"tldr":"COL1A1 (Collagen alpha-1(I) chain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas, Anal cancer, Pancreatic ductal adenocarcinoma and 3 more.","summary":"Type I collagen is a member of group I collagen (fibrillar forming collagen).\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.98, animal model 0.57, genetic association 0.00, somatic mutation 0.79). IntOGen calls it a driver in 5 cohorts (2 activating, 3 loss-of-function), covering Anal Squamous Cell Carcinoma, Glioblastoma Multiforme, Melanoma, Pancreatic Adenocarcinoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2197","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197"},{"label":"UniProt P02452","url":"https://www.uniprot.org/uniprotkb/P02452/entry"},{"label":"NCBI Gene 1277","url":"https://www.ncbi.nlm.nih.gov/gene/1277"},{"label":"Ensembl ENSG00000108821","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108821"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["sarcoma","anal","pancreatic","multiple-myeloma","glioblastoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"COL1A1","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2197","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2197","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02452","url":"https://www.uniprot.org/uniprotkb/P02452/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108821","url":"https://platform.opentargets.org/target/ENSG00000108821/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: sarcoma 0.59 (GraphQL API, CC0)"},{"label":"IntOGen COL1A1","url":"https://www.intogen.org/search?gene=COL1A1","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2197","ensembl":"ENSG00000108821","uniprot":"P02452","entrez":"1277","firstDescribed":1970,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Click E.M. et al, Biochemistry, 1970, \"Isolation and characterization of the cyanogen bromide peptides from the alpha 1 and alpha 2 chains of human skin collagen\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/5529814/","biology":"Type I collagen is a member of group I collagen (fibrillar forming collagen). Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 17q21.33 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.59 with sarcoma (MONDO_0005089)","Anal cancer: IntOGen driver in 1 cohort (ANSC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)","Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"col2a1","kind":"target","name":"COL2A1","aka":["collagen type II alpha 1 chain","Collagen alpha-1(II) chain","STL1"],"tldr":"COL2A1 (Collagen alpha-1(II) chain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Thyroid cancer and Papillary thyroid cancer.","summary":"Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Well-Differentiated Thyroid Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2200","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2200"},{"label":"UniProt P02458","url":"https://www.uniprot.org/uniprotkb/P02458/entry"},{"label":"NCBI Gene 1280","url":"https://www.ncbi.nlm.nih.gov/gene/1280"},{"label":"Ensembl ENSG00000139219","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139219"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["thyroid","papillary-thyroid-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"COL2A1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2200","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2200","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02458","url":"https://www.uniprot.org/uniprotkb/P02458/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen COL2A1","url":"https://www.intogen.org/search?gene=COL2A1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2200","ensembl":"ENSG00000139219","uniprot":"P02458","entrez":"1280","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Strom C.M. et al, Nucleic Acids Res, 1984, \"Isolation and characterization of genomic clones corresponding to the human type II procollagen gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6320112/","biology":"Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 12q13.11 (HGNC).","whereFound":["Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Papillary thyroid cancer: IntOGen driver in 1 cohort (WDTC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"col6a3","kind":"target","name":"COL6A3","aka":["collagen type VI alpha 3 chain","Collagen alpha-3(VI) chain"],"tldr":"COL6A3 (Collagen alpha-3(VI) chain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target and a tumour suppressor, and an approved or late-stage drug is recorded against it. Tied to Melanoma.","summary":"Collagen VI acts as a cell-binding protein.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Melanoma. In OnCo, 1 product record names it (Vimseltinib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2213","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2213"},{"label":"UniProt P12111","url":"https://www.uniprot.org/uniprotkb/P12111/entry"},{"label":"NCBI Gene 1293","url":"https://www.ncbi.nlm.nih.gov/gene/1293"},{"label":"Ensembl ENSG00000163359","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163359"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["vimseltinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 1 OnCo product record names it; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"COL6A3","role":["drug-target","tumour-suppressor"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:2213","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2213","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12111","url":"https://www.uniprot.org/uniprotkb/P12111/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen COL6A3","url":"https://www.intogen.org/search?gene=COL6A3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal smooth muscle, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA COL6A3: RNA tissue enhanced (smooth muscle 392 nTPM); no normal tissue stained high; highest cancer staining urothelial cancer (1 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (Dupuytren Contracture). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas COL6A3 tissue","url":"https://www.proteinatlas.org/ENSG00000163359-COL6A3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas COL6A3 pathology","url":"https://www.proteinatlas.org/ENSG00000163359-COL6A3/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163359 associations","url":"https://platform.opentargets.org/target/ENSG00000163359/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2213","ensembl":"ENSG00000163359","uniprot":"P12111","entrez":"1293","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chu M.-L. et al, Eur. J. Biochem, 1987, \"Characterization of three constituent chains of collagen type VI by peptide sequences and cDNA clones\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3665927/","biology":"Collagen VI acts as a cell-binding protein. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 2q37.3 (HGNC).","whereFound":["Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"col6a6","kind":"target","name":"COL6A6","aka":["collagen type VI alpha 6 chain","Collagen alpha-6(VI) chain"],"tldr":"COL6A6 (Collagen alpha-6(VI) chain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma.","summary":"Collagen VI acts as a cell-binding protein.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:27023","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27023"},{"label":"UniProt A6NMZ7","url":"https://www.uniprot.org/uniprotkb/A6NMZ7/entry"},{"label":"NCBI Gene 131873","url":"https://www.ncbi.nlm.nih.gov/gene/131873"},{"label":"Ensembl ENSG00000206384","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000206384"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"COL6A6","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:27023","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27023","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt A6NMZ7","url":"https://www.uniprot.org/uniprotkb/A6NMZ7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen COL6A6","url":"https://www.intogen.org/search?gene=COL6A6","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:27023","ensembl":"ENSG00000206384","uniprot":"A6NMZ7","entrez":"131873","firstDescribed":2006,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Muzny D.M. et al, Nature, 2006, \"The DNA sequence, annotation and analysis of human chromosome 3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/16641997/","biology":"Collagen VI acts as a cell-binding protein. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 3q22.1 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"cox2","kind":"target","name":"COX-2 (PTGS2)","aka":[],"tldr":"COX-2 makes the inflammatory prostaglandins that help tumours grow; aspirin and celecoxib block it, which is why they reduce colorectal polyps and are studied for cancer prevention.","summary":"Prostaglandin-endoperoxide synthase 2 (COX-2) is induced by inflammation and is overexpressed in colorectal adenomas and many carcinomas, where prostaglandin E2 drives proliferation, angiogenesis and immune suppression. Celecoxib was approved to reduce polyps in familial adenomatous polyposis (later withdrawn from that indication) and low-dose aspirin lowers colorectal cancer risk in long-term trials; COX-2 inhibition remains a live prevention and adjuvant question.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Prostaglandin-endoperoxide_synthase_2","links":[{"label":"UniProt P35354: PTGS2","url":"https://www.uniprot.org/uniprotkb/P35354/entry"},{"label":"HGNC:9605 PTGS2","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9605"},{"label":"ChEMBL target CHEMBL230","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL230"}],"tags":[],"related":[],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["celecoxib"],"companies":[],"institutions":[],"pathways":[],"terms":["tumor-promoting-inflammation","inducing-angiogenesis"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PTGS2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Lung Adenocarcinoma (TCGA)) and tissue enhanced in normal bone marrow, seminal vesicle, urinary bladder, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA PTGS2: RNA tissue enhanced (bone marrow 110 nTPM, seminal vesicle 120 nTPM, urinary bladder 151 nTPM); blood lineage lineage enriched (granulocytes 12 nTPM); high antibody staining in 7 normal tissues; highest cancer staining endometrial cancer (4 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); approvals of single-target medicines aimed at it also list Head and neck squamous cell carcinoma, not counted; Open Targets associates it with 1 specific cancer type at or above 0.5 (classic familial adenomatous polyposis). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PTGS2 tissue","url":"https://www.proteinatlas.org/ENSG00000073756-PTGS2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PTGS2 pathology","url":"https://www.proteinatlas.org/ENSG00000073756-PTGS2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000073756 associations","url":"https://platform.opentargets.org/target/ENSG00000073756/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9605","ensembl":"ENSG00000073756","uniprot":"P35354","entrez":"5743","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hla et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Human cyclooxygenase-2 cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1380156/","biology":"An inducible cyclooxygenase converting arachidonic acid to prostaglandin H2; PGE2 acts through EP receptors on tumour and immune cells.","whereFound":["Colorectal adenomas and carcinomas (overexpressed)","Inflamed tissue, many solid tumours"],"targetClass":"enzyme","prevalence":[{"cancerId":"colorectal","pct":"about 85","measure":"COX-2 overexpression by mRNA in colorectal carcinomas","source":"https://doi.org/10.1016/0016-5085(94)90246-1"}]},{"id":"cpeb3","kind":"target","name":"CPEB3","aka":["cytoplasmic polyadenylation element binding protein 3","Cytoplasmic polyadenylation element-binding protein 3","KIAA0940"],"tldr":"CPEB3 (Cytoplasmic polyadenylation element-binding protein 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Basal cell carcinoma.","summary":"Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator. In contrast to CPEB1, does not bind to the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3'-UTR, but binds to a U-rich loop within a stem-loop structure. Required for the consolidation and maintenance of hippocampal-based long term memory.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Basal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21746","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21746"},{"label":"UniProt Q8NE35","url":"https://www.uniprot.org/uniprotkb/Q8NE35/entry"},{"label":"NCBI Gene 22849","url":"https://www.ncbi.nlm.nih.gov/gene/22849"},{"label":"Ensembl ENSG00000107864","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107864"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CPEB3","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:21746","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21746","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NE35","url":"https://www.uniprot.org/uniprotkb/Q8NE35/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CPEB3","url":"https://www.intogen.org/search?gene=CPEB3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:21746","ensembl":"ENSG00000107864","uniprot":"Q8NE35","entrez":"22849","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10231032/","biology":"Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator. In contrast to CPEB1, does not bind to the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3'-UTR, but binds to a U-rich loop within a stem-loop structure. Required for the consolidation and maintenance of hippocampal-based long term memory. In the basal state, binds to the mRNA 3'-UTR of the glutamate receptors GRIA2/GLUR2 mRNA and negatively regulates their translation. Also represses the translation of DLG4, GRIN1, GRIN2A and GRIN2B. When activated, acts as a translational activator of GRIA1 and GRIA2. Location: Cytoplasm; Nucleus; Synapse; Cell projection, dendrite (UniProt). Locus 10q23.32 (HGNC).","whereFound":["Basal cell carcinoma: IntOGen driver in 1 cohort (BCC)"],"targetClass":"oncogene","prevalence":[]},{"id":"cpsf6","kind":"target","name":"CPSF6","aka":["cleavage and polyadenylation specific factor 6","Cleavage and polyadenylation specificity factor subunit 6","HPBRII-4","HPBRII-7","CFIM68","CFIM72"],"tldr":"CPSF6 (Cleavage and polyadenylation specificity factor subunit 6) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia.","summary":"Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs. CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.94, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13871","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13871"},{"label":"UniProt Q16630","url":"https://www.uniprot.org/uniprotkb/Q16630/entry"},{"label":"NCBI Gene 11052","url":"https://www.ncbi.nlm.nih.gov/gene/11052"},{"label":"Ensembl ENSG00000111605","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111605"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CPSF6","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13871","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13871","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16630","url":"https://www.uniprot.org/uniprotkb/Q16630/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000111605","url":"https://platform.opentargets.org/target/ENSG00000111605/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: leukaemia 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:13871","ensembl":"ENSG00000111605","uniprot":"Q16630","entrez":"11052","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fleischhauer K.L., 1995.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q16630/entry","biology":"Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs. CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation. The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localised in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs. CPSF6 enhances NUDT21/CPSF5 binding to 5'-UGUA-3' elements localised upstream of pA signals and promotes RNA looping, and hence activates directly the mRNA 3'-processing machinery. Plays a role in mRNA export. Location: Nucleus; Nucleus, nucleoplasm; Nucleus speckle; Cytoplasm (UniProt). Locus 12q15 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.52 with leukaemia (MONDO_0005059)"],"targetClass":"other","prevalence":[]},{"id":"cpvl","kind":"target","name":"CPVL","aka":["carboxypeptidase vitellogenic like","Probable serine carboxypeptidase CPVL"],"tldr":"CPVL (Probable serine carboxypeptidase CPVL) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer and Basal cell carcinoma.","summary":"May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.86, animal model 0.57, genetic association 0.75).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14399","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14399"},{"label":"UniProt Q9H3G5","url":"https://www.uniprot.org/uniprotkb/Q9H3G5/entry"},{"label":"NCBI Gene 54504","url":"https://www.ncbi.nlm.nih.gov/gene/54504"},{"label":"Ensembl ENSG00000106066","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106066"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CPVL","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:14399","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14399","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H3G5","url":"https://www.uniprot.org/uniprotkb/Q9H3G5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000106066","url":"https://platform.opentargets.org/target/ENSG00000106066/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: skin cancer 0.57, basal cell carcinoma 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:14399","ensembl":"ENSG00000106066","uniprot":"Q9H3G5","entrez":"54504","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cho J.-J. et al, 2000, \"Cloning of VCP-like protein expressed in human heart and placenta\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9H3G5/entry","biology":"May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation. Locus 7p14.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Basal cell carcinoma: Open Targets association 0.55 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"enzyme","prevalence":[]},{"id":"raf1","kind":"target","name":"CRAF (RAF1)","aka":[],"tldr":"CRAF is BRAF's sibling in the growth-signal relay; sorafenib and regorafenib were designed against it, and it is the route by which RAS-mutant tumours escape BRAF-only drugs.","summary":"RAF1 (CRAF) is one of three RAF kinases that pass the signal from RAS to MEK. Sorafenib was originally developed as a CRAF inhibitor before its VEGF receptor activity explained its clinical effect, and regorafenib shares that profile. CRAF matters clinically because RAS-mutant and BRAF-inhibitor-treated tumours signal through CRAF dimers, the basis for pan-RAF inhibitors now in trials.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/C-Raf","links":[{"label":"UniProt P04049: RAF1","url":"https://www.uniprot.org/uniprotkb/P04049/entry"},{"label":"HGNC:9829 RAF1","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9829"},{"label":"ChEMBL target CHEMBL1906","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL1906"}],"tags":[],"related":["braf","mek"],"cancers":["hcc","rcc","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["sorafenib","regorafenib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"RAF1","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal granulocytes: HPA finds the gene lineage enriched in that blood lineage, and the 2 medicines aimed at it (Sorafenib, Regorafenib) act on the wild-type protein, so the normal lineage is hit too. HPA RAF1: RNA tissue enhanced (skeletal muscle 163 nTPM); blood lineage lineage enriched (granulocytes 150 nTPM); high antibody staining in 3 normal tissues; highest cancer staining colorectal cancer (1 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma, Renal cell carcinoma, Colorectal cancer); Open Targets associates it with 4 specific cancer types at or above 0.5 (hepatocellular carcinoma, renal cell carcinoma, colorectal cancer, low grade glioma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RAF1 tissue","url":"https://www.proteinatlas.org/ENSG00000132155-RAF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas RAF1 pathology","url":"https://www.proteinatlas.org/ENSG00000132155-RAF1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000132155 associations","url":"https://platform.opentargets.org/target/ENSG00000132155/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9829","ensembl":"ENSG00000132155","uniprot":"P04049","entrez":"5894","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bonner T.I. et al, Mol. Cell. Biol, 1985, \"Structure and biological activity of human homologs of the raf/mil oncogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2993863/","biology":"Activated by RAS-GTP at the membrane and by dimerisation; it also has kinase-independent roles in blocking apoptosis.","whereFound":["All tissues","Drives MAPK signalling in RAS-mutant tumours and in resistance to BRAF inhibitors"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (CRAF in the RAS-MAPK relay); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"creb1","kind":"target","name":"CREB1","aka":["cAMP responsive element binding protein 1","Cyclic AMP-responsive element-binding protein 1"],"tldr":"CREB1 (Cyclic AMP-responsive element-binding protein 1) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Breast cancer, Sarcomas, Skin cancer and 1 more.","summary":"Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-119 phosphorylation. Involved in different cellular processes including the synchronisation of circadian rhythmicity and the differentiation of adipose cells.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.99, animal model 0.57, genetic association 0.00, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2345","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2345"},{"label":"UniProt P16220","url":"https://www.uniprot.org/uniprotkb/P16220/entry"},{"label":"NCBI Gene 1385","url":"https://www.ncbi.nlm.nih.gov/gene/1385"},{"label":"Ensembl ENSG00000118260","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118260"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","sarcoma","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CREB1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2345","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2345","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16220","url":"https://www.uniprot.org/uniprotkb/P16220/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000118260","url":"https://platform.opentargets.org/target/ENSG00000118260/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: melanoma 0.52, sarcoma 0.52, skin cancer 0.51, breast cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2345","ensembl":"ENSG00000118260","uniprot":"P16220","entrez":"1385","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hoeffler J.P. et al, Science, 1988, \"Cyclic AMP-responsive DNA-binding protein: structure based on a cloned placental cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2974179/","biology":"Phosphorylation-dependent transcription factor that stimulates transcription upon binding to the DNA cAMP response element (CRE), a sequence present in many viral and cellular promoters. Transcription activation is enhanced by the TORC coactivators which act independently of Ser-119 phosphorylation. Involved in different cellular processes including the synchronisation of circadian rhythmicity and the differentiation of adipose cells. Regulates the expression of apoptotic and inflammatory response factors in cardiomyocytes in response to ERFE-mediated activation of AKT signalling. Location: Nucleus (UniProt). Locus 2q33.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Sarcomas: Open Targets association 0.52 with sarcoma (MONDO_0005089)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"creb3l1","kind":"target","name":"CREB3L1","aka":["cAMP responsive element binding protein 3 like 1","Cyclic AMP-responsive element-binding protein 3-like protein 1","OASIS"],"tldr":"CREB3L1 (Cyclic AMP-responsive element-binding protein 3-like protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Sarcomas, Lung cancer and Breast cancer.","summary":"Precursor of the transcription factor form (Processed cyclic AMP-responsive element-binding protein 3-like protein 1), which is embedded in the endoplasmic reticulum membrane with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress or DNA damage, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus where it activates transcription of specific target genes involved in the cell-cycle progression inhibition.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18856","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18856"},{"label":"UniProt Q96BA8","url":"https://www.uniprot.org/uniprotkb/Q96BA8/entry"},{"label":"NCBI Gene 90993","url":"https://www.ncbi.nlm.nih.gov/gene/90993"},{"label":"Ensembl ENSG00000157613","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000157613"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","lung-cancer","breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CREB3L1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18856","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18856","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96BA8","url":"https://www.uniprot.org/uniprotkb/Q96BA8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000157613","url":"https://platform.opentargets.org/target/ENSG00000157613/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: sarcoma 0.59, breast cancer 0.51, lung cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:18856","ensembl":"ENSG00000157613","uniprot":"Q96BA8","entrez":"90993","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Omori et al, Biochem. Biophys. Res. Commun, 2002, \"OASIS is a transcriptional activator of CREB/ATF family with a transmembrane domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12054625/","biology":"Precursor of the transcription factor form (Processed cyclic AMP-responsive element-binding protein 3-like protein 1), which is embedded in the endoplasmic reticulum membrane with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress or DNA damage, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus where it activates transcription of specific target genes involved in the cell-cycle progression inhibition. Transcription factor involved in cell type specific DNA damage and unfolded protein response (UPR). Binds the DNA consensus sequence 5'-GTGXGCXGC-3'. Plays a critical role in bone formation through the transcription of COL1A1, and possibly COL1A2, and the secretion of bone matrix proteins. Location: Endoplasmic reticulum membrane; Nucleus (UniProt). Locus 11p11.2 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.59 with sarcoma (MONDO_0005089)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"creb3l2","kind":"target","name":"CREB3L2","aka":["cAMP responsive element binding protein 3 like 2","Cyclic AMP-responsive element-binding protein 3-like protein 2","BBF2H7","TCAG_1951439"],"tldr":"CREB3L2 (Cyclic AMP-responsive element-binding protein 3-like protein 2) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas, Breast cancer and Lung cancer.","summary":"Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.85, animal model 0.54, genetic association 0.00, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23720","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23720"},{"label":"UniProt Q70SY1","url":"https://www.uniprot.org/uniprotkb/Q70SY1/entry"},{"label":"NCBI Gene 64764","url":"https://www.ncbi.nlm.nih.gov/gene/64764"},{"label":"Ensembl ENSG00000182158","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182158"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","breast-cancer","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CREB3L2","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23720","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23720","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q70SY1","url":"https://www.uniprot.org/uniprotkb/Q70SY1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182158","url":"https://platform.opentargets.org/target/ENSG00000182158/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: sarcoma 0.58, breast cancer 0.51, lung cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:23720","ensembl":"ENSG00000182158","uniprot":"Q70SY1","entrez":"64764","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Storlazzi C.T. et al, Hum. Mol. Genet, 2003, \"Fusion of the FUS and BBF2H7 genes in low grade fibromyxoid sarcoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12915480/","biology":"Transcription factor involved in unfolded protein response (UPR). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in chondrogenesis by activating the transcription of SEC23A, which promotes the transport and secretion of cartilage matrix proteins, and possibly that of ER biogenesis-related genes. In a neuroblastoma cell line, protects cells from ER stress-induced death. Location: Endoplasmic reticulum membrane; Nucleus (UniProt). Locus 7q33 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.58 with sarcoma (MONDO_0005089)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.50 with lung cancer (MONDO_0008903)"],"targetClass":"transcription","prevalence":[]},{"id":"crebbp","kind":"target","name":"CREBBP","aka":["CREB binding lysine acetyltransferase ","CREB-binding protein","KAT3A"],"tldr":"CREBBP (CREB-binding protein) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Bladder & urothelial cancer, Leukaemia and 5 more.","summary":"Acetylates histones, giving a specific tag for transcriptional activation. Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 4 variants, naming MTOR Inhibitor, C646, HDAC Inhibitor OBP-801 and Therapeutic Glucocorticoid. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes clinical 0.16, affected pathway 0.84, literature 0.99, genetic association 0.20, somatic mutation 0.97, animal model 0.58). IntOGen calls it a driver in 42 cohorts (12 activating, 29 loss-of-function), covering Acute Lymphoblastic Leukaemia, Basal Cell Carcinoma, Bladder/Urinary Tract, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2348","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2348"},{"label":"UniProt Q92793","url":"https://www.uniprot.org/uniprotkb/Q92793/entry"},{"label":"NCBI Gene 1387","url":"https://www.ncbi.nlm.nih.gov/gene/1387"},{"label":"Ensembl ENSG00000005339","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000005339"},{"label":"Horn et al., Blood 2013: MYC, BCL2 and BCL6 rearrangement and expression in 442 RICOVER patients","url":"https://doi.org/10.1182/blood-2012-06-435842"},{"label":"Schmitz et al., N Engl J Med 2018: genetics and pathogenesis of diffuse large B-cell lymphoma (574 biopsies; MCD, BN2, N1, EZB)","url":"https://doi.org/10.1056/NEJMoa1801445"},{"label":"Pasqualucci et al., Nature 2011: inactivating mutations of the acetyltransferase genes CREBBP and EP300 in B-cell lymphoma","url":"https://doi.org/10.1038/nature09730"},{"label":"Morin et al., Nature 2011: frequent mutation of histone-modifying genes in non-Hodgkin lymphoma","url":"https://doi.org/10.1038/nature10351"},{"label":"Pasqualucci et al., Nat Genet 2011: the coding genome of diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/ng.892"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","urothelial","leukaemia","neuroendocrine","esophageal","breast-cancer","hcc","head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["transcription-addiction","epigenetic-reprogramming"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.16; IntOGen calls it an activating (Act) driver in 12 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 29 cohorts; CIViC holds 5 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, BCL6 and the germinal-centre programme: BCL6 is the master transcriptional repressor of the germinal centre: it switches off the DNA-damage response and the differentiation programme so that a B cell can tolerate deliberate mutation of its own immunoglobulin genes. A lymphoma that keeps BCL6 on keeps a cell in a state where mutation is permitted and apoptosis is suppressed. The protein is normally switched off by acetylation, which is one reason CREBBP and EP300 loss matters here. Frequency: BCL6 rearrangement in 28.7% of 442 diffuse large B-cell lymphomas, the commonest of the three translocations (Horn 2013); BCL6 fusions with NOTCH2 mutations define the BN2 subtype (Schmitz 2018). What it changes about treatment: Nothing yet. There is no approved BCL6 inhibitor or degrader, and the group's prognosis in the genetic classification is comparatively favourable, which is a reason to study de-escalation rather than a reason to change treatment now.","Lymphoma, CREBBP, EP300 and the rest of the chromatin machinery: CREBBP and EP300 are acetyltransferases. Losing one allele lowers the dose of acetylation, which leaves BCL6 acetylated less often and therefore active more often, and leaves p53 acetylated less often and therefore working less well; the same lesion also turns down the enhancers that would let a germinal-centre cell present antigen to T cells. KMT2D, formerly MLL2, writes H3K4 monomethylation at enhancers and is the single most frequently mutated gene in follicular lymphoma. Frequency: Genomic deletion or somatic mutation removing or inactivating the acetyltransferase domain of CREBBP or, more rarely, EP300 in about 39% of diffuse large B-cell lymphoma and 41% of follicular lymphoma, usually on one allele only (Pasqualucci 2011). KMT2D mutated in 32% of diffuse large B-cell lymphoma and 89% of follicular lymphoma in the discovery series, with MEF2B in 11.4% and 13.4% (Morin 2011); the coding genome of diffuse large B-cell lymphoma carries more than 30 clonally represented alterations per case (Pasqualucci 2011, Nat Genet). What it changes about treatment: Not yet. The pairing of CREBBP loss with HDAC3 dependency is the clearest synthetic-lethal hypothesis in B-cell lymphoma and is in trials; no approval depends on a CREBBP result."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CREBBP","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2348","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2348","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92793","url":"https://www.uniprot.org/uniprotkb/Q92793/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CREBBP","url":"https://civicdb.org/features/1193","note":"5 evidence items, 0 assertions, 4 variants; diseases: Lung Non-small Cell Carcinoma, Acute Lymphoblastic Leukaemia, Diffuse Large B-cell Lymphoma, Follicular Lymphoma, Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000005339","url":"https://platform.opentargets.org/target/ENSG00000005339/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.57, oesophageal cancer 0.54, urinary bladder cancer 0.66, ovarian cancer 0.53, melanoma 0.55, neuroendocrine neoplasm 0.60 (GraphQL API, CC0)"},{"label":"IntOGen CREBBP","url":"https://www.intogen.org/search?gene=CREBBP","note":"driver in 42 cohorts (Act 12, LoF 29); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CREBBP: RNA low tissue specificity; high antibody staining in 17 normal tissues; highest cancer staining testis cancer (9 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Bladder & urothelial cancer, Leukaemia, Neuroendocrine tumours, Oesophageal cancer, Breast cancer (all types), Hepatocellular carcinoma and more); Open Targets associates it with 2 specific cancer types at or above 0.5 (diffuse large B-cell lymphoma, urinary bladder cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q92793","url":"https://www.uniprot.org/uniprotkb/Q92793/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CREBBP","url":"https://civicdb.org/features/1193","note":"5 evidence items, 0 assertions, 4 variants; diseases: Lung Non-small Cell Carcinoma, Acute Lymphoblastic Leukaemia, Diffuse Large B-cell Lymphoma, Follicular Lymphoma, Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen CREBBP","url":"https://www.intogen.org/search?gene=CREBBP","note":"driver in 42 cohorts (Act 12, LoF 29); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CREBBP tissue","url":"https://www.proteinatlas.org/ENSG00000005339-CREBBP/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000005339 associations","url":"https://platform.opentargets.org/target/ENSG00000005339/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2348","ensembl":"ENSG00000005339","uniprot":"Q92793","entrez":"1387","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Borrow et al, Nat. Genet, 1996, \"The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8782817/","biology":"Acetylates histones, giving a specific tag for transcriptional activation. Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1. Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-BMAL1 and CLOCK-BMAL1 heterodimers. Location: Cytoplasm; Nucleus (UniProt). Locus 16p13.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.74 with non-Hodgkin lymphoma (MONDO_0018908); CIViC evidence names this disease","Bladder & urothelial cancer: Open Targets association 0.66 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 7 cohorts (BLADDER, BLCA, UTUC)","Leukaemia: Open Targets association 0.65 with leukaemia (MONDO_0005059)","Neuroendocrine tumours: Open Targets association 0.60 with neuroendocrine neoplasm (MONDO_0019496); IntOGen driver in 1 cohort (NETNOS)","Oesophageal cancer: Open Targets association 0.54 with oesophageal cancer (MONDO_0007576); IntOGen driver in 2 cohorts (ESCA)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)"],"targetClass":"transcription","prevalence":[]},{"id":"crkl","kind":"target","name":"CRKL","aka":["CRK like proto-oncogene, adaptor protein","Crk-like protein"],"tldr":"CRKL (Crk-like protein) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer and Non-small-cell lung cancer.","summary":"May mediate the transduction of intracellular signals.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Gefitinib and Dasatinib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2363","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2363"},{"label":"UniProt P46109","url":"https://www.uniprot.org/uniprotkb/P46109/entry"},{"label":"NCBI Gene 1399","url":"https://www.ncbi.nlm.nih.gov/gene/1399"},{"label":"Ensembl ENSG00000099942","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000099942"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["gastric","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CRKL","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2363","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2363","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P46109","url":"https://www.uniprot.org/uniprotkb/P46109/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CRKL","url":"https://civicdb.org/features/1204","note":"2 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma, Stomach Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists CRKL among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA CRKL: RNA low tissue specificity; no normal tissue stained high; highest cancer staining ovarian cancer (3 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CRKL tissue","url":"https://www.proteinatlas.org/ENSG00000099942-CRKL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000099942 associations","url":"https://platform.opentargets.org/target/ENSG00000099942/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2363","ensembl":"ENSG00000099942","uniprot":"P46109","entrez":"1399","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: ten Hoeve et al, Oncogene, 1993, \"Isolation and chromosomal localization of CRKL, a human crk-like gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8361759/","biology":"May mediate the transduction of intracellular signals. Locus 22q11.21 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"crlf2","kind":"target","name":"CRLF2","aka":["cytokine receptor like factor 2","Cytokine receptor-like factor 2","CRL2","TSLPR"],"tldr":"CRLF2 (Cytokine receptor-like factor 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Acute lymphoblastic leukaemia and 2 more.","summary":"Receptor for thymic stromal lymphopoietin (TSLP). Forms a functional complex with TSLP and IL7R which is capable of stimulating cell proliferation through activation of STAT3 and STAT5. Also activates JAK2.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 5 variants, naming Sirolimus and JAK Inhibitor I. Open Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.63, animal model 0.36, somatic mutation 0.80). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14281","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14281"},{"label":"UniProt Q9HC73","url":"https://www.uniprot.org/uniprotkb/Q9HC73/entry"},{"label":"NCBI Gene 64109","url":"https://www.ncbi.nlm.nih.gov/gene/64109"},{"label":"Ensembl ENSG00000205755","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000205755"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","lung-cancer","all-leukemia","nsclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: B-cell Adult Acute Lymphocytic Leukaemia; Childhood B-cell Acute Lymphoblastic Leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CRLF2","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14281","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14281","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HC73","url":"https://www.uniprot.org/uniprotkb/Q9HC73/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CRLF2","url":"https://civicdb.org/features/14303","note":"5 evidence items, 0 assertions, 5 variants; diseases: Acute Lymphoblastic Leukaemia, B-cell Adult Acute Lymphocytic Leukaemia, Childhood B-cell Acute Lymphoblastic Leukaemia, B-lymphoblastic Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000205755","url":"https://platform.opentargets.org/target/ENSG00000205755/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: melanoma 0.52, skin cancer 0.56, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen CRLF2","url":"https://www.intogen.org/search?gene=CRLF2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CRLF2: RNA tissue enhanced (bone marrow 2 nTPM, gallbladder 1 nTPM, lymphoid tissue 1 nTPM); blood lineage lineage enriched (dendritic cells 1 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Lung cancer (all types), Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9HC73","url":"https://www.uniprot.org/uniprotkb/Q9HC73/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CRLF2","url":"https://civicdb.org/features/14303","note":"5 evidence items, 0 assertions, 5 variants; diseases: Acute Lymphoblastic Leukaemia, B-cell Adult Acute Lymphocytic Leukaemia, Childhood B-cell Acute Lymphoblastic Leukaemia, B-lymphoblastic Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"IntOGen CRLF2","url":"https://www.intogen.org/search?gene=CRLF2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CRLF2 tissue","url":"https://www.proteinatlas.org/ENSG00000205755-CRLF2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000205755 associations","url":"https://platform.opentargets.org/target/ENSG00000205755/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14281","ensembl":"ENSG00000205755","uniprot":"Q9HC73","entrez":"64109","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, Biochem. Biophys. Res. Commun, 2001, \"Identification of a novel type I cytokine receptor CRL2 preferentially expressed by human dendritic cells and activated monocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11237741/","biology":"Receptor for thymic stromal lymphopoietin (TSLP). Forms a functional complex with TSLP and IL7R which is capable of stimulating cell proliferation through activation of STAT3 and STAT5. Also activates JAK2. Implicated in the development of the haematopoietic system. Location: Cell membrane; Secreted (UniProt). Locus Xp22.3 and Yp11.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Acute lymphoblastic leukaemia: CIViC evidence names this disease","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"crtc1","kind":"target","name":"CRTC1","aka":["CREB regulated transcription coactivator 1","CREB-regulated transcription coactivator 1","KIAA0616","FLJ14027","TORC1","MECT1"],"tldr":"CRTC1 (CREB-regulated transcription coactivator 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Salivary gland cancers, Lung cancer, Skin cancer and 5 more.","summary":"Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signalling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.82, animal model 0.26, genetic association 0.26, somatic mutation 0.84). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Adenoid Cystic Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16062","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16062"},{"label":"UniProt Q6UUV9","url":"https://www.uniprot.org/uniprotkb/Q6UUV9/entry"},{"label":"NCBI Gene 23373","url":"https://www.ncbi.nlm.nih.gov/gene/23373"},{"label":"Ensembl ENSG00000105662","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105662"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["salivary-gland","lung-cancer","skin-cancer","colorectal","esophageal","mucoepidermoid-carcinoma","adenoid-cystic-carcinoma","oral-cavity-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CRTC1","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:16062","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16062","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6UUV9","url":"https://www.uniprot.org/uniprotkb/Q6UUV9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105662","url":"https://platform.opentargets.org/target/ENSG00000105662/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.54, colorectal cancer 0.51, oesophageal cancer 0.51, skin cancer 0.51, lung cancer 0.56, oral cavity cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen CRTC1","url":"https://www.intogen.org/search?gene=CRTC1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:16062","ensembl":"ENSG00000105662","uniprot":"Q6UUV9","entrez":"23373","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ishikawa et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9734811/","biology":"Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signalling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. In the hippocampus, involved in late-phase long-term potentiation (L-LTP) maintenance at the Schaffer collateral-CA1 synapses. Location: Cytoplasm; Nucleus (UniProt). Locus 19p13.11 (HGNC).","whereFound":["Salivary gland cancers: IntOGen driver in 1 cohort (ACYC)","Lung cancer: Open Targets association 0.56 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Oesophageal cancer: Open Targets association 0.51 with oesophageal cancer (MONDO_0007576)","Mucoepidermoid carcinoma: Open Targets association 0.58 with mucoepidermoid carcinoma (MONDO_0003036)"],"targetClass":"oncogene","prevalence":[]},{"id":"crtc3","kind":"target","name":"CRTC3","aka":["CREB regulated transcription coactivator 3","CREB-regulated transcription coactivator 3","FLJ21868"],"tldr":"CRTC3 (CREB-regulated transcription coactivator 3) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Oral cavity cancer.","summary":"Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signalling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.68, genetic association 0.31, somatic mutation 0.78).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26148","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26148"},{"label":"UniProt Q6UUV7","url":"https://www.uniprot.org/uniprotkb/Q6UUV7/entry"},{"label":"NCBI Gene 64784","url":"https://www.ncbi.nlm.nih.gov/gene/64784"},{"label":"Ensembl ENSG00000140577","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140577"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["oral-cavity-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CRTC3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:26148","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26148","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6UUV7","url":"https://www.uniprot.org/uniprotkb/Q6UUV7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140577","url":"https://platform.opentargets.org/target/ENSG00000140577/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: oral cavity cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:26148","ensembl":"ENSG00000140577","uniprot":"Q6UUV7","entrez":"64784","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Iourgenko et al, Proc. Natl. Acad. Sci. U.S.A, 2003, \"Identification of a family of cAMP response element-binding protein coactivators by genome-scale functional analysis in mammalian cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14506290/","biology":"Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signalling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PPARGC1A and inducer of mitochondrial biogenesis in muscle cells. Also coactivator for TAX activation of the human T-cell leukaemia virus type 1 (HTLV-1) long terminal repeats (LTR). Location: Nucleus; Cytoplasm (UniProt). Locus 15q26.1 (HGNC).","whereFound":["Oral cavity cancer: Open Targets association 0.53 with oral cavity cancer (MONDO_0005515)"],"targetClass":"transcription","prevalence":[]},{"id":"csf1","kind":"target","name":"CSF1","aka":["colony stimulating factor 1","Macrophage colony-stimulating factor 1","M-CSF","MGC31930"],"tldr":"CSF1 (Macrophage colony-stimulating factor 1) is a gene. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Tenosynovial giant cell tumour.","summary":"Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of haematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of pro-inflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Pexidartinib. In OnCo, 3 product records name it (Vimseltinib, Pexidartinib and Surufatinib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2432","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2432"},{"label":"UniProt P09603","url":"https://www.uniprot.org/uniprotkb/P09603/entry"},{"label":"NCBI Gene 1435","url":"https://www.ncbi.nlm.nih.gov/gene/1435"},{"label":"Ensembl ENSG00000184371","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184371"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["tenosynovial-giant-cell-tumour"],"sections":[],"technologies":[],"targets":[],"drugs":["pexidartinib","surufatinib","vimseltinib"],"companies":[],"institutions":[],"pathways":["myeloid-suppression-axis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CSF1","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:2432","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2432","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09603","url":"https://www.uniprot.org/uniprotkb/P09603/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CSF1","url":"https://civicdb.org/features/1234","note":"1 evidence items, 0 assertions, 1 variants; diseases: Tenosynovial Giant Cell Tumour (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 3 medicines aimed at it (Pexidartinib, Surufatinib, Vimseltinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA CSF1: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 22 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CSF1 tissue","url":"https://www.proteinatlas.org/ENSG00000184371-CSF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184371 associations","url":"https://platform.opentargets.org/target/ENSG00000184371/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2432","ensembl":"ENSG00000184371","uniprot":"P09603","entrez":"1435","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kawasaki E.S. et al, Science, 1985, \"Molecular cloning of a complementary DNA encoding human macrophage-specific colony-stimulating factor (CSF-1)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2996129/","biology":"Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of haematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of pro-inflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female fertility. Promotes reorganisation of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance. Location: Cell membrane; Secreted, extracellular space (UniProt). Locus 1p13.3 (HGNC).","whereFound":["Tenosynovial giant cell tumour: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"csf1r","kind":"target","name":"CSF1R","aka":[],"tldr":"The receptor that macrophages depend on; blocking it shrinks tenosynovial giant cell tumour (a CSF1-driven tumour) and depletes tumour-supporting macrophages, though the latter has not yet helped patients with common cancers.","summary":"CSF1R signalling sustains macrophages and microglia. Tenosynovial giant cell tumour is driven by CSF1 translocation in a minority of cells that recruit a CSF1R-positive mass: pexidartinib (2019) and vimseltinib (2025) are approved; emactuzumab and cabiralizumab (antibodies) showed activity. In solid tumours, CSF1R blockade to deplete tumour-associated macrophages and combine with PD-1 inhibitors (cabiralizumab-nivolumab in pancreatic cancer) was disappointing. Axatilimab (anti-CSF1R) was approved in 2024 for chronic GVHD, targeting macrophage-driven fibrosis.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/Colony_stimulating_factor_1_receptor","links":[{"label":"ENLIVEN (Lancet 2019)","url":"https://doi.org/10.1016/S0140-6736(19)30764-0"}],"tags":["gap-fill"],"related":["kit","pdgfra"],"cancers":["sarcoma","pancreatic","glioblastoma"],"sections":[],"technologies":["kinase-inhibitors","monoclonal-antibody"],"targets":[],"drugs":["pexidartinib","vimseltinib","emactuzumab","chiauranib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tap-lancet"],"journals":[],"dependsOn":[],"notes":["In pancreatic cancer and glioblastoma the target is on tumour-associated macrophages and microglia rather than tumour cells, so no tumour-cell prevalence is recorded."],"symbol":"CSF1R","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA CSF1R: RNA tissue enhanced (lymphoid tissue 107 nTPM, placenta 97 nTPM); blood lineage lineage enriched (monocytes 650 nTPM); no normal tissue stained high; highest cancer staining ovarian cancer (1 of 9 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Pancreatic ductal adenocarcinoma, Brain and spinal cord tumours (all types)); Open Targets associates it with 5 specific cancer types at or above 0.5 (gastrointestinal stromal tumor, renal cell carcinoma, pigmented villonodular synovitis, soft tissue sarcoma, tenosynovial giant cell tumor). (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CSF1R tissue","url":"https://www.proteinatlas.org/ENSG00000182578-CSF1R/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P07333","url":"https://www.uniprot.org/uniprotkb/P07333/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000182578 associations","url":"https://platform.opentargets.org/target/ENSG00000182578/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2433","ensembl":"ENSG00000182578","uniprot":"P07333","entrez":"1436","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nienhuis A.W. et al, Cell, 1985, \"Expression of the human c-fms proto-oncogene in hematopoietic cells and its deletion in the 5q- syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/4028159/","biology":"Type III receptor tyrosine kinase for CSF1 and IL-34; controls differentiation, survival and function of monocytes, macrophages, osteoclasts and microglia.","whereFound":["Tenosynovial giant cell tumour (CSF1 translocation in neoplastic cells; CSF1R+ reactive mass)","Tumour-associated macrophages in most solid tumours","Glioblastoma microglia","Chronic GVHD macrophages"],"targetClass":"kinase","prevalence":[{"cancerId":"sarcoma","pct":100,"measure":"CSF1 overexpression by ISH/IHC in tenosynovial giant cell tumour / PVNS (57 of 57); CSF1 translocation in 61%","source":"https://doi.org/10.1097/PAS.0b013e31802b86f8","note":"TGCT only, where the CSF1R-positive macrophage mass is the tumour bulk (West 2006, doi:10.1073/pnas.0507321103)"}]},{"id":"csf2rb","kind":"target","name":"CSF2RB","aka":["colony stimulating factor 2 receptor subunit beta","Cytokine receptor common subunit beta","IL5RB","CD131","betaGMR","IL3RB"],"tldr":"CSF2RB (Cytokine receptor common subunit beta) is a gene. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Sarcomas, Leukaemia, Myeloproliferative neoplasms and 1 more.","summary":"Cell surface receptor that plays a role in immune response and controls the production and differentiation of haematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with different partners such as IL3RA, IL5RA or CSF2RA. In turn, participates in various signalling pathways including interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor/CSF2 pathways.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Doxorubicin. Open Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.67, animal model 0.45, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2436","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2436"},{"label":"UniProt P32927","url":"https://www.uniprot.org/uniprotkb/P32927/entry"},{"label":"NCBI Gene 1439","url":"https://www.ncbi.nlm.nih.gov/gene/1439"},{"label":"Ensembl ENSG00000100368","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100368"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["sarcoma","leukaemia","myeloproliferative-neoplasms","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CSF2RB","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:2436","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2436","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P32927","url":"https://www.uniprot.org/uniprotkb/P32927/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CSF2RB","url":"https://civicdb.org/features/1237","note":"1 evidence items, 0 assertions, 1 variants; diseases: Sarcoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000100368","url":"https://platform.opentargets.org/target/ENSG00000100368/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.52, myeloproliferative neoplasm 0.53, leukaemia 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CSF2RB: RNA tissue enhanced (bone marrow 51 nTPM, lymphoid tissue 62 nTPM); blood lineage lineage enriched (granulocytes 239 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CSF2RB tissue","url":"https://www.proteinatlas.org/ENSG00000100368-CSF2RB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100368 associations","url":"https://platform.opentargets.org/target/ENSG00000100368/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2436","ensembl":"ENSG00000100368","uniprot":"P32927","entrez":"1439","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hayashida et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Molecular cloning of a second subunit of the receptor for human granulocyte-macrophage colony-stimulating factor (GM-CSF): reconstitution of a high-affinity GM-CSF receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1702217/","biology":"Cell surface receptor that plays a role in immune response and controls the production and differentiation of haematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with different partners such as IL3RA, IL5RA or CSF2RA. In turn, participates in various signalling pathways including interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor/CSF2 pathways. In unstimulated conditions, interacts constitutively with JAK1 and ligand binding leads to JAK1 stimulation and subsequent activation of the JAK-STAT pathway. Location: Membrane (UniProt). Locus 22q12.3 (HGNC).","whereFound":["Sarcomas: CIViC evidence names this disease","Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.53 with myeloproliferative neoplasm (MONDO_0020076)","Acute myeloid leukaemia: Open Targets association 0.52 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"other","prevalence":[]},{"id":"csk","kind":"target","name":"CSK","aka":["C-terminal Src kinase","Tyrosine-protein kinase CSK"],"tldr":"CSK (Tyrosine-protein kinase CSK) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN, CSK or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.97, animal model 0.33, genetic association 0.15).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2444","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2444"},{"label":"UniProt P41240","url":"https://www.uniprot.org/uniprotkb/P41240/entry"},{"label":"NCBI Gene 1445","url":"https://www.ncbi.nlm.nih.gov/gene/1445"},{"label":"Ensembl ENSG00000103653","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103653"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CSK","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2444","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2444","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P41240","url":"https://www.uniprot.org/uniprotkb/P41240/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000103653","url":"https://platform.opentargets.org/target/ENSG00000103653/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2444","ensembl":"ENSG00000103653","uniprot":"P41240","entrez":"1445","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Partanen et al, Oncogene, 1991, \"CYL encodes a putative cytoplasmic tyrosine kinase lacking the conserved tyrosine autophosphorylation site (Y416src)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1945408/","biology":"Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN, CSK or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signalling by various surface receptors, including T-cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK. May act as a negative regulator of EGFR and STAT3 signalling pathways. Location: Cytoplasm; Cell membrane (UniProt). Locus 15q24.1 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"csmd3","kind":"target","name":"CSMD3","aka":["CUB and Sushi multiple domains 3","CUB and sushi domain-containing protein 3"],"tldr":"CSMD3 (CUB and sushi domain-containing protein 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Hepatocellular carcinoma, Head and neck squamous cell carcinoma and 5 more.","summary":"Involved in dendrite development.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.42, genetic association 0.51, somatic mutation 0.76). IntOGen calls it a driver in 46 cohorts (26 activating, 19 loss-of-function), covering Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Glioblastoma Multiforme and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19291","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19291"},{"label":"UniProt Q7Z407","url":"https://www.uniprot.org/uniprotkb/Q7Z407/entry"},{"label":"NCBI Gene 114788","url":"https://www.ncbi.nlm.nih.gov/gene/114788"},{"label":"Ensembl ENSG00000164796","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164796"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","hcc","head-and-neck","gastric","breast-cancer","colorectal","esophageal","urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 26 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 19 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CSMD3","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:19291","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19291","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z407","url":"https://www.uniprot.org/uniprotkb/Q7Z407/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164796","url":"https://platform.opentargets.org/target/ENSG00000164796/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"},{"label":"IntOGen CSMD3","url":"https://www.intogen.org/search?gene=CSMD3","note":"driver in 46 cohorts (Act 26, LoF 19); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:19291","ensembl":"ENSG00000164796","uniprot":"Q7Z407","entrez":"114788","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11572484/","biology":"Involved in dendrite development. Location: Cell membrane (UniProt). Locus 8q23.3 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 9 cohorts (PRAD)","Hepatocellular carcinoma: IntOGen driver in 4 cohorts (HCC)","Head and neck squamous cell carcinoma: IntOGen driver in 4 cohorts (HNSC)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 4 cohorts (STAD)","Breast cancer: IntOGen driver in 3 cohorts (BRCA)","Colorectal cancer: IntOGen driver in 3 cohorts (COAD, COADREAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"csnk1a1","kind":"target","name":"CSNK1A1","aka":["casein kinase 1 alpha 1","Casein kinase I isoform alpha","CK1","CK1a","CK1alpha","CKIa","CKIalpha"],"tldr":"CSNK1A1 (Casein kinase I isoform alpha) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Casein kinases are operationally defined by their preferential utilisation of acidic proteins such as caseins as substrates. Phosphorylates a large number of proteins. Participates in Wnt signalling.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.89, genetic association 0.17, somatic mutation 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2451","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2451"},{"label":"UniProt P48729","url":"https://www.uniprot.org/uniprotkb/P48729/entry"},{"label":"NCBI Gene 1452","url":"https://www.ncbi.nlm.nih.gov/gene/1452"},{"label":"Ensembl ENSG00000113712","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113712"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CSNK1A1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2451","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2451","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48729","url":"https://www.uniprot.org/uniprotkb/P48729/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000113712","url":"https://platform.opentargets.org/target/ENSG00000113712/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2451","ensembl":"ENSG00000113712","uniprot":"P48729","entrez":"1452","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Brockman J.L. et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Cell cycle-dependent localization of casein kinase I to mitotic spindles\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1409656/","biology":"Casein kinases are operationally defined by their preferential utilisation of acidic proteins such as caseins as substrates. Phosphorylates a large number of proteins. Participates in Wnt signalling. Phosphorylates CTNNB1 at 'Ser-45'. May phosphorylate PER1 and PER2. May play a role in segregating chromosomes during mitosis. Location: Cytoplasm; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Chromosome, centromere, kinetochore; Nucleus speckle (UniProt). Locus 5q32 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"csnk1e","kind":"target","name":"CSNK1E","aka":["casein kinase 1 epsilon","Casein kinase I isoform epsilon","HCKIE","CKIepsilon"],"tldr":"CSNK1E (Casein kinase I isoform epsilon) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma and Follicular lymphoma.","summary":"Casein kinases are operationally defined by their preferential utilisation of acidic proteins such as caseins as substrates. Participates in Wnt signalling. Phosphorylates DVL1.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2453","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2453"},{"label":"UniProt P49674","url":"https://www.uniprot.org/uniprotkb/P49674/entry"},{"label":"NCBI Gene 1454","url":"https://www.ncbi.nlm.nih.gov/gene/1454"},{"label":"Ensembl ENSG00000213923","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000213923"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","follicular-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CSNK1E","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:2453","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2453","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49674","url":"https://www.uniprot.org/uniprotkb/P49674/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000213923","url":"https://platform.opentargets.org/target/ENSG00000213923/associations","note":"per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.57, follicular lymphoma 0.52 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA CSNK1E: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining stomach cancer (1 of 9 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (follicular lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CSNK1E tissue","url":"https://www.proteinatlas.org/ENSG00000213923-CSNK1E/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000213923 associations","url":"https://platform.opentargets.org/target/ENSG00000213923/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2453","ensembl":"ENSG00000213923","uniprot":"P49674","entrez":"1454","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fish K.J. et al, J. Biol. Chem, 1995, \"Isolation and characterization of human casein kinase I epsilon (CKI), a novel member of the CKI gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7797465/","biology":"Casein kinases are operationally defined by their preferential utilisation of acidic proteins such as caseins as substrates. Participates in Wnt signalling. Phosphorylates DVL1. Phosphorylates DVL2. Phosphorylates NEDD9/HEF1. Central component of the circadian clock. Location: Cytoplasm; Nucleus (UniProt). Locus 22q13.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Follicular lymphoma: Open Targets association 0.52 with follicular lymphoma (MONDO_0018906)"],"targetClass":"kinase","prevalence":[]},{"id":"cspg4","kind":"target","name":"CSPG4","aka":["chondroitin sulfate proteoglycan 4","Chondroitin sulfate proteoglycan 4","MCSPG","MEL-CSPG","MSK16","NG2","HMW-MAA","CSPG4A"],"tldr":"CSPG4 (Chondroitin sulfate proteoglycan 4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer.","summary":"Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2466","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2466"},{"label":"UniProt Q6UVK1","url":"https://www.uniprot.org/uniprotkb/Q6UVK1/entry"},{"label":"NCBI Gene 1464","url":"https://www.ncbi.nlm.nih.gov/gene/1464"},{"label":"Ensembl ENSG00000173546","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173546"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct07627698"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CSPG4","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2466","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2466","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6UVK1","url":"https://www.uniprot.org/uniprotkb/Q6UVK1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CSPG4","url":"https://www.intogen.org/search?gene=CSPG4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2466","ensembl":"ENSG00000173546","uniprot":"Q6UVK1","entrez":"1464","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pluschke et al, Proc. Natl. Acad. Sci. U.S.A, 1996, \"Molecular cloning of a human melanoma-associated chondroitin sulfate proteoglycan\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8790396/","biology":"Proteoglycan playing a role in cell proliferation and migration which stimulates endothelial cells motility during microvascular morphogenesis. May also inhibit neurite outgrowth and growth cone collapse during axon regeneration. Cell surface receptor for collagen alpha 2(VI) which may confer cells ability to migrate on that substrate. Binds through its extracellular N-terminus growth factors, extracellular matrix proteases modulating their activity. May regulate MPP16-dependent degradation and invasion of type I collagen participating in melanoma cells invasion properties. May modulate the plasminogen system by enhancing plasminogen activation and inhibiting angiostatin. Location: Cell membrane; Apical cell membrane; Cell projection, lamellipodium membrane; Cell surface (UniProt). Locus 15q24.2 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"oncogene","prevalence":[]},{"id":"ctag1b","kind":"target","name":"CTAG1B","aka":["cancer/testis antigen 1B","Cancer/testis antigen 1","NY-ESO-1","LAGE2B","LAGE2A","ESO1","CT6.1","CTAG1"],"tldr":"CTAG1B (Cancer/testis antigen 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Multiple myeloma.","summary":"UniProt has no function text for P78358; HGNC names it \"cancer/testis antigen 1B\".\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Letetresgene Autoleucel. In OnCo, 1 product record names it (Letetresgene autoleucel).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2491","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2491"},{"label":"UniProt P78358","url":"https://www.uniprot.org/uniprotkb/P78358/entry"},{"label":"NCBI Gene 1485","url":"https://www.ncbi.nlm.nih.gov/gene/1485"},{"label":"Ensembl ENSG00000184033","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184033"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":["letetresgene-autoleucel"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct07174427"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myxoid Liposarcoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTAG1B","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2491","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2491","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78358","url":"https://www.uniprot.org/uniprotkb/P78358/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CTAG1B","url":"https://civicdb.org/features/1278","note":"2 evidence items, 0 assertions, 2 variants; diseases: Multiple Myeloma, Myxoid Liposarcoma (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enriched in normal testis, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA CTAG1B: RNA tissue enriched (testis 8 nTPM); high antibody staining in 1 normal tissue; highest cancer staining carcinoid (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Multiple myeloma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CTAG1B tissue","url":"https://www.proteinatlas.org/ENSG00000184033-CTAG1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CTAG1B pathology","url":"https://www.proteinatlas.org/ENSG00000184033-CTAG1B/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184033 associations","url":"https://platform.opentargets.org/target/ENSG00000184033/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2491","ensembl":"ENSG00000184033","uniprot":"P78358","entrez":"1485","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen Y.-T. et al, Proc. Natl. Acad. Sci. U.S.A, 1997, \"A testicular antigen aberrantly expressed in human cancers detected by autologous antibody screening\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9050879/","biology":"UniProt has no function text for P78358; HGNC names it \"cancer/testis antigen 1B\". Location: Cytoplasm (UniProt). Locus Xq28 (HGNC).","whereFound":["Multiple myeloma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ctag2","kind":"target","name":"CTAG2","aka":["cancer/testis antigen 2","Cancer/testis antigen 2","LAGE-1","CAMEL","LAGE1","ESO2","MGC3803","MGC138724","CT6.2a","CT6.2b","LAGE-1a","LAGE-1b"],"tldr":"CTAG2 (Cancer/testis antigen 2) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Multiple myeloma.","summary":"UniProt has no function text for O75638; HGNC names it \"cancer/testis antigen 2\".\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Letetresgene Autoleucel.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2492","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2492"},{"label":"UniProt O75638","url":"https://www.uniprot.org/uniprotkb/O75638/entry"},{"label":"NCBI Gene 30848","url":"https://www.ncbi.nlm.nih.gov/gene/30848"},{"label":"Ensembl ENSG00000126890","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126890"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTAG2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2492","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2492","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75638","url":"https://www.uniprot.org/uniprotkb/O75638/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CTAG2","url":"https://civicdb.org/features/11492","note":"1 evidence items, 0 assertions, 1 variants; diseases: Multiple Myeloma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CTAG2: RNA tissue enhanced (heart muscle 5 nTPM, testis 10 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Multiple myeloma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CTAG2 tissue","url":"https://www.proteinatlas.org/ENSG00000126890-CTAG2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000126890 associations","url":"https://platform.opentargets.org/target/ENSG00000126890/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2492","ensembl":"ENSG00000126890","uniprot":"O75638","entrez":"30848","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lethe B.G. et al, Int. J. Cancer, 1998, \"LAGE-1, a new gene with tumor specificity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9626360/","biology":"UniProt has no function text for O75638; HGNC names it \"cancer/testis antigen 2\". Locus Xq28 (HGNC).","whereFound":["Multiple myeloma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ctcf","kind":"target","name":"CTCF","aka":["CCCTC-binding factor","Transcriptional repressor CTCF","FAP108","CFAP108"],"tldr":"CTCF (Transcriptional repressor CTCF) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Breast cancer, Head and neck squamous cell carcinoma and 4 more.","summary":"Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin. Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to cellular structures, such as the nuclear lamina. Defines the boundaries between active and heterochromatic DNA via binding to chromatin insulators, thereby preventing interaction between promoter and nearby enhancers and silencers.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.00, somatic mutation 0.91). IntOGen calls it a driver in 8 cohorts (0 activating, 8 loss-of-function), covering Acute Lymphoblastic Leukaemia, Invasive Breast Carcinoma, Head and Neck Squamous Cell Carcinoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13723","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13723"},{"label":"UniProt P49711","url":"https://www.uniprot.org/uniprotkb/P49711/entry"},{"label":"NCBI Gene 10664","url":"https://www.ncbi.nlm.nih.gov/gene/10664"},{"label":"Ensembl ENSG00000102974","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102974"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["endometrial","breast-cancer","head-and-neck","leukaemia","non-hodgkin-lymphoma","colorectal","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 8 cohorts; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTCF","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13723","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13723","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49711","url":"https://www.uniprot.org/uniprotkb/P49711/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CTCF","url":"https://civicdb.org/features/8508","note":"3 evidence items, 0 assertions, 3 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000102974","url":"https://platform.opentargets.org/target/ENSG00000102974/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.52, endometrial cancer 0.59, acute lymphoblastic leukaemia 0.51, non-Hodgkin lymphoma 0.53, breast cancer 0.53, leukaemia 0.56 (GraphQL API, CC0)"},{"label":"IntOGen CTCF","url":"https://www.intogen.org/search?gene=CTCF","note":"driver in 8 cohorts (Act 0, LoF 8); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CTCF: RNA low tissue specificity; high antibody staining in 36 normal tissues; highest cancer staining lymphoma (12 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Endometrial cancer, Breast cancer (all types), Head and neck squamous cell carcinoma, Leukaemia, Lymphoma, Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P49711","url":"https://www.uniprot.org/uniprotkb/P49711/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CTCF","url":"https://civicdb.org/features/8508","note":"3 evidence items, 0 assertions, 3 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen CTCF","url":"https://www.intogen.org/search?gene=CTCF","note":"driver in 8 cohorts (Act 0, LoF 8); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CTCF tissue","url":"https://www.proteinatlas.org/ENSG00000102974-CTCF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000102974 associations","url":"https://platform.opentargets.org/target/ENSG00000102974/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13723","ensembl":"ENSG00000102974","uniprot":"P49711","entrez":"10664","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Filippova G.N. et al, Mol. Cell. Biol, 1996, \"An exceptionally conserved transcriptional repressor, CTCF, employs different combinations of zinc fingers to bind diverged promoter sequences of avian and mammalian c-myc oncogenes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8649389/","biology":"Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin. Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to cellular structures, such as the nuclear lamina. Defines the boundaries between active and heterochromatic DNA via binding to chromatin insulators, thereby preventing interaction between promoter and nearby enhancers and silencers. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, binding within the H19 imprinting control region (ICR) mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2. Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory. Location: Nucleus, nucleoplasm; Chromosome; Chromosome, centromere (UniProt). Locus 16q22.1 (HGNC).","whereFound":["Endometrial cancer: Open Targets association 0.59 with endometrial cancer (MONDO_0011962); IntOGen driver in 3 cohorts (UCEC)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254); IntOGen driver in 3 cohorts (BRCA)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Leukaemia: Open Targets association 0.56 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.53 with non-Hodgkin lymphoma (MONDO_0018908)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ctla4","kind":"target","name":"CTLA-4","aka":[],"tldr":"The first immune brake ever targeted for cancer; releasing it won a Nobel Prize and cures a fraction of melanomas.","summary":"CTLA-4 is a checkpoint on activated and regulatory T cells that competes with CD28 for B7 ligands during T-cell priming; antibodies against it broaden the T-cell response and, through Fc effector function, deplete regulatory T cells inside tumours. Ipilimumab (2011) was the first checkpoint inhibitor, and the concept later shared a Nobel Prize. Combined with nivolumab it yields 10-year survival near 50 percent in advanced melanoma (CheckMate 067), and the pair is used in RCC, MSI-high colorectal cancer, HCC and mesothelioma. The cost is frequent immune-related toxicity such as colitis and hypophysitis, and because it acts on immune cells there is no tumour biomarker to select patients. Fc-engineered and probody CTLA-4 antibodies aim to reduce toxicity. Releasing this brake was the first proof that the immune system can cure some cancers.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CTLA-4","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CTLA-4"}],"tags":["checkpoint"],"related":[],"cancers":["melanoma","rcc","colorectal","hcc","mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":["gotistobart","bcd-217","adg126","botensilimab","jk08","lorigerlimab","ba3071"],"companies":["xilio-therapeutics"],"institutions":[],"pathways":["pd1-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CTLA4","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"many-types","specificityNote":"Immune or microenvironment target: the record's class is immune checkpoint. HPA CTLA4: RNA tissue enriched (lymphoid tissue 35 nTPM); blood lineage lineage enriched (T-cells 43 nTPM); no normal tissue stained high. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Renal cell carcinoma, Colorectal cancer, Hepatocellular carcinoma, Mesothelioma); approvals of single-target medicines aimed at it also list Lung cancer (all types), not counted; Open Targets associates it with 6 specific cancer types at or above 0.5 (autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, non-small cell lung carcinoma, melanoma, hepatocellular carcinoma, renal cell carcinoma, basal cell carcinoma). (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CTLA4 tissue","url":"https://www.proteinatlas.org/ENSG00000163599-CTLA4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P16410","url":"https://www.uniprot.org/uniprotkb/P16410/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000163599 associations","url":"https://platform.opentargets.org/target/ENSG00000163599/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2505","ensembl":"ENSG00000163599","uniprot":"P16410","entrez":"1493","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dariavach et al, Eur. J. Immunol, 1988, \"Human Ig superfamily CTLA-4 gene: chromosomal localization and identity of protein sequence between murine and human CTLA-4 cytoplasmic domains\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3220103/","biology":"Competes with CD28 for B7 ligands during T-cell priming; also depletes regulatory T cells via Fc effector function.","whereFound":["Activated and regulatory T cells"],"targetClass":"checkpoint","prevalence":[{"cancerId":"melanoma","pct":"n/a","measure":"Immune-cell target; no tumour prevalence","source":"https://en.wikipedia.org/wiki/CTLA-4"}]},{"id":"ctnna1","kind":"target","name":"CTNNA1","aka":["catenin alpha 1","Catenin alpha-1","CAP102"],"tldr":"CTNNA1 (Catenin alpha-1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer, Colorectal cancer and Cervical cancer.","summary":"Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes genetic literature 0.01, literature 0.92, genetic association 0.83, somatic mutation 0.43, animal model 0.60). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Cervical Adenocarcinoma, Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2509"},{"label":"UniProt P35221","url":"https://www.uniprot.org/uniprotkb/P35221/entry"},{"label":"NCBI Gene 1495","url":"https://www.ncbi.nlm.nih.gov/gene/1495"},{"label":"Ensembl ENSG00000044115","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000044115"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["gastric","colorectal","cervical"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTNNA1","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2509","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35221","url":"https://www.uniprot.org/uniprotkb/P35221/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000044115","url":"https://platform.opentargets.org/target/ENSG00000044115/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: colorectal cancer 0.59, gastric cancer 0.63 (GraphQL API, CC0)"},{"label":"IntOGen CTNNA1","url":"https://www.intogen.org/search?gene=CTNNA1","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2509","ensembl":"ENSG00000044115","uniprot":"P35221","entrez":"1495","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Oda et al, Biochem. Biophys. Res. Commun, 1993, \"Cloning of the human alpha-catenin cDNA and its aberrant mRNA in a human cancer cell line\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8323564/","biology":"Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. Location: Cytoplasm, cytoskeleton; Cell junction, adherens junction; Cell membrane; Cell junction (UniProt). Locus 5q31.2 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.63 with gastric cancer (MONDO_0001056)","Colorectal cancer: Open Targets association 0.59 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Cervical cancer: IntOGen driver in 1 cohort (CEAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ctnna2","kind":"target","name":"CTNNA2","aka":["catenin alpha 2","Catenin alpha-2","CAP-R","CT114"],"tldr":"CTNNA2 (Catenin alpha-2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Hepatocellular carcinoma, Head and neck squamous cell carcinoma and 4 more.","summary":"May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system. Required for proper regulation of cortical neuronal migration and neurite growth. It acts as a negative regulator of Arp2/3 complex activity and Arp2/3-mediated actin polymerisation.\n\nIntOGen calls it a driver in 12 cohorts (9 activating, 2 loss-of-function), covering Cholangiocarcinoma, Hepatocellular Carcinoma, Head and Neck Squamous Cell Carcinoma, Lung Adenocarcinoma, Melanoma, Pancreatic Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2510","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2510"},{"label":"UniProt P26232","url":"https://www.uniprot.org/uniprotkb/P26232/entry"},{"label":"NCBI Gene 1496","url":"https://www.ncbi.nlm.nih.gov/gene/1496"},{"label":"Ensembl ENSG00000066032","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000066032"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate","hcc","head-and-neck","pancreatic","cholangiocarcinoma","nsclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 9 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTNNA2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2510","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2510","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P26232","url":"https://www.uniprot.org/uniprotkb/P26232/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CTNNA2","url":"https://www.intogen.org/search?gene=CTNNA2","note":"driver in 12 cohorts (Act 9, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2510","ensembl":"ENSG00000066032","uniprot":"P26232","entrez":"1496","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Claverie J.-M. et al, Genomics, 1993, \"Characterization and chromosomal assignment of a human cDNA encoding a protein related to the murine 102-kDa cadherin-associated protein (alpha-catenin)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8432524/","biology":"May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system. Required for proper regulation of cortical neuronal migration and neurite growth. It acts as a negative regulator of Arp2/3 complex activity and Arp2/3-mediated actin polymerisation. It thereby suppresses excessive actin branching which would impair neurite growth and stability. Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development. Functions in the control of startle modulation. Location: Cell membrane; Cytoplasm; Cytoplasm, cytoskeleton; Cell junction, adherens junction (UniProt). Locus 2p12 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 4 cohorts (PRAD)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Biliary tract cancer: IntOGen driver in 2 cohorts (CHOL)","Non-small-cell lung cancer: IntOGen driver in 2 cohorts (LUAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"ctnnb1","kind":"target","name":"CTNNB1","aka":["catenin beta 1","Catenin beta-1","beta-catenin","armadillo","CTNNB"],"tldr":"CTNNB1 (Catenin beta-1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and an approved or late-stage drug is recorded against it. Tied to Hepatocellular carcinoma, Colorectal cancer, Ovarian cancer and 5 more.","summary":"Key downstream component of the canonical Wnt signalling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes.\n\nCIViC holds 43 clinical evidence items and 1 assertion across 16 variants, naming Meloxicam, Imatinib, Anti-CTLA-4 Monoclonal Antibody and Anti-PD-L1 Monoclonal Antibody and others. Open Targets scores its association with cancer at 0.89 (direct and indirect evidence; datatypes clinical 0.16, genetic literature 0.72, affected pathway 0.85, literature 0.99, genetic association 0.82, somatic mutation 0.97, animal model 0.68). IntOGen calls it a driver in 47 cohorts (46 activating, 1 loss-of-function), covering Adrenocortical Carcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma, Hepatoblastoma and others. In OnCo, 1 product record names it (Nirogacestat).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2514","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2514"},{"label":"UniProt P35222","url":"https://www.uniprot.org/uniprotkb/P35222/entry"},{"label":"NCBI Gene 1499","url":"https://www.ncbi.nlm.nih.gov/gene/1499"},{"label":"Ensembl ENSG00000168036","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168036"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["hcc","colorectal","ovarian","lung-cancer","endometrial","prostate","rcc","adrenocortical","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":["nirogacestat"],"companies":[],"institutions":[],"pathways":["endometrial-cancer-signalling","hepatocellular-carcinoma-signalling","wnt"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-yaeger-metastatic-colorectal-genomic-landscape-cancer-cell-2018","paper-pandey-gallbladder-elf3-nat-commun-2020","paper-lin-gallbladder-neoplasia-carcinoma-evolution-nat-commun-2021"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.16; IntOGen calls it an activating (Act) driver in 46 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 43 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Childhood Medulloblastoma; Pancreatic Solid Pseudopapillary Carcinoma; Adamantinous Craniopharyngioma; Medulloblastoma WNT Activated; Salivary Gland Basal Cell Adenoma.","Colorectal cancer: activating mutation or large in-frame deletion in 5 to 7%, leaning hypermutated. Large in-frame CTNNB1 deletions, which standard variant calling misses, were part of what took oncogenic WNT alteration to 96% of tumours (Yaeger 2018); it is the usual WNT driver where APC is intact."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTNNB1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:2514","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2514","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35222","url":"https://www.uniprot.org/uniprotkb/P35222/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CTNNB1","url":"https://civicdb.org/features/1290","note":"43 evidence items, 1 assertions, 16 variants; diseases: Desmoid Tumour, Hepatoblastoma, Childhood Medulloblastoma, Pancreatic Solid Pseudopapillary Carcinoma, Adamantinous Craniopharyngioma and 5 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000168036","url":"https://platform.opentargets.org/target/ENSG00000168036/associations","note":"association with cancer (MONDO_0004992) 0.89; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.68, colorectal cancer 0.72, hepatocellular carcinoma 0.80, prostate cancer 0.59, urinary bladder cancer 0.58, renal cell carcinoma 0.61 (GraphQL API, CC0)"},{"label":"IntOGen CTNNB1","url":"https://www.intogen.org/search?gene=CTNNB1","note":"driver in 47 cohorts (Act 46, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (Nirogacestat), an alteration absent from normal cells. HPA CTNNB1: RNA low tissue specificity; high antibody staining in 33 normal tissues; highest cancer staining colorectal cancer (12 of 12 high). Distribution: 9 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Hepatocellular carcinoma, Colorectal cancer, Ovarian cancer, Lung cancer (all types), Endometrial cancer, Prostate cancer and more); Open Targets associates it with 10 specific cancer types at or above 0.5 (pilomatrixoma, hepatocellular carcinoma, medulloblastoma, ovarian cancer, colorectal cancer, hepatoblastoma and more). (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"FDA label (DailyMed)","url":"https://dailymed.nlm.nih.gov/dailymed/search.cfm?query=Nirogacestat"},{"label":"Human Protein Atlas CTNNB1 tissue","url":"https://www.proteinatlas.org/ENSG00000168036-CTNNB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000168036 associations","url":"https://platform.opentargets.org/target/ENSG00000168036/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2514","ensembl":"ENSG00000168036","uniprot":"P35222","entrez":"1499","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Huelsken et al, J. Cell Biol, 1994, \"E-cadherin and APC compete for the interaction with beta-catenin and the cytoskeleton\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7806582/","biology":"Key downstream component of the canonical Wnt signalling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Also acts as a coactivator for other transcription factors, such as NR5A2. Promotes epithelial to mesenchymal transition/mesenchymal to epithelial transition (EMT/MET) via driving transcription of CTNNB1/TCF-target genes. Involved in the regulation of cell adhesion, as component of an E-cadherin:catenin adhesion complex. Location: Cytoplasm; Nucleus; Cytoplasm, cytoskeleton; Cell junction, adherens junction (UniProt). Locus 3p22.1 (HGNC).","whereFound":["Hepatocellular carcinoma: Open Targets association 0.80 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 9 cohorts (HCC)","Colorectal cancer: Open Targets association 0.72 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.70 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Lung cancer: Open Targets association 0.69 with lung cancer (MONDO_0008903)","Endometrial cancer: Open Targets association 0.67 with endometrial cancer (MONDO_0011962); IntOGen driver in 4 cohorts (UCEC)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315); IntOGen driver in 7 cohorts (PRAD, PROSTATE)","Colorectal cancer: activating mutation or large in-frame deletion 5-7%","Gallbladder cancer: mutation (wnt activation) about 6%"],"targetClass":"transcription","prevalence":[{"cancerId":"colorectal","pct":"5-7","measure":"Activating mutation or large in-frame deletion","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 503 of 7,237, 7.0%, in crc_msk_2026; 84 of 1,134, 7.4%, in crc_msk_2017; 106 of 1,516, 7.0%, in crc_eo_2020; 33 of 534, 6.2%, in coadread_tcga_pan_can_atlas_2018; 36 of 619, 5.8%, in coadread_dfci_2016. Structural variants disrupt CTNNB1 in 29 of 7,237 crc_msk_2026 samples. Large in-frame CTNNB1 deletions, missed by standard variant calling, were part of what took WNT alteration to 96% of tumours (Yaeger 2018)."},{"cancerId":"gallbladder","pct":6,"measure":"Mutation (Wnt activation)","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Mutation in 15 of 244 samples, 6.1%, in cBioPortal gbc_mskcc_2022 and 6 of 103, 5.8%, in gbc_msk_2018; a significantly mutated gene not previously linked to gallbladder cancer, with recurrent Wnt pathway alterations (Pandey 2020); a critical event in co-existing adenoma, high-grade BilIN and carcinoma lesions (Lin 2021)."}]},{"id":"ctnnd2","kind":"target","name":"CTNND2","aka":["catenin delta 2","Catenin delta-2","NPRAP","GT24"],"tldr":"CTNND2 (Catenin delta-2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Oesophageal cancer, Ovarian cancer, Pancreatic ductal adenocarcinoma and 3 more.","summary":"Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses. Involved in the regulation of Wnt signalling. It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation.\n\nIntOGen calls it a driver in 7 cohorts (5 activating, 2 loss-of-function), covering Oesophageal Adenocarcinoma, Lung Adenocarcinoma, Lung Squamous Cell Carcinoma, Melanoma, Ovarian Epithelial Tumour, Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2516","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2516"},{"label":"UniProt Q9UQB3","url":"https://www.uniprot.org/uniprotkb/Q9UQB3/entry"},{"label":"NCBI Gene 1501","url":"https://www.ncbi.nlm.nih.gov/gene/1501"},{"label":"Ensembl ENSG00000169862","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169862"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["esophageal","ovarian","pancreatic","nsclc","oesophageal-adenocarcinoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTNND2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2516","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2516","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UQB3","url":"https://www.uniprot.org/uniprotkb/Q9UQB3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CTNND2","url":"https://www.intogen.org/search?gene=CTNND2","note":"driver in 7 cohorts (Act 5, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2516","ensembl":"ENSG00000169862","uniprot":"Q9UQB3","entrez":"1501","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fraser P.E. et al, 1996, \"A novel gene from the arm family\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9UQB3/entry","biology":"Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses. Involved in the regulation of Wnt signalling. It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation. Functions as a transcriptional activator when bound to ZBTB33. May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules. Location: Nucleus; Cell junction, adherens junction; Cell projection, dendrite; Perikaryon (UniProt). Locus 5p15.2 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Non-small-cell lung cancer: IntOGen driver in 3 cohorts (LUAD, LUSC)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)","Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"transcription","prevalence":[]},{"id":"ctr9","kind":"target","name":"CTR9","aka":["CTR9 component of Paf1/RNA polymerase II complex","RNA polymerase-associated protein CTR9 homolog","KIAA0155","p150TSP","SH2BP1"],"tldr":"CTR9 (RNA polymerase-associated protein CTR9 homolog) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Wilms tumour.","summary":"Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.57, genetic literature 0.74).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16850","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16850"},{"label":"UniProt Q6PD62","url":"https://www.uniprot.org/uniprotkb/Q6PD62/entry"},{"label":"NCBI Gene 9646","url":"https://www.ncbi.nlm.nih.gov/gene/9646"},{"label":"Ensembl ENSG00000198730","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198730"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["wilms-tumor"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTR9","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16850","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16850","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6PD62","url":"https://www.uniprot.org/uniprotkb/Q6PD62/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198730","url":"https://platform.opentargets.org/target/ENSG00000198730/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: Wilms tumour 0.58 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16850","ensembl":"ENSG00000198730","uniprot":"Q6PD62","entrez":"9646","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1995, \"Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8590280/","biology":"Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser-5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in haematopoiesis and stimulates transcriptional activity of KMT2A/MLL1; it promotes leukemogenesis through association with KMT2A/MLL1-rearranged oncoproteins, such as KMT2A/MLL1-MLLT3/AF9 and KMT2A/MLL1-MLLT1/ENL. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. Location: Nucleus speckle (UniProt). Locus 11p15.4 (HGNC).","whereFound":["Wilms tumour: Open Targets association 0.58 with Wilms tumour (MONDO_0006058)"],"targetClass":"transcription","prevalence":[]},{"id":"ctsh","kind":"target","name":"CTSH","aka":["cathepsin H","Pro-cathepsin H","ACC-4","ACC-5","ACC4","ACC5"],"tldr":"CTSH (Pro-cathepsin H) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Important for the overall degradation of proteins in lysosomes.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.93, animal model 0.81, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2535","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2535"},{"label":"UniProt P09668","url":"https://www.uniprot.org/uniprotkb/P09668/entry"},{"label":"NCBI Gene 1512","url":"https://www.ncbi.nlm.nih.gov/gene/1512"},{"label":"Ensembl ENSG00000103811","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103811"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTSH","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2535","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2535","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09668","url":"https://www.uniprot.org/uniprotkb/P09668/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000103811","url":"https://platform.opentargets.org/target/ENSG00000103811/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2535","ensembl":"ENSG00000103811","uniprot":"P09668","entrez":"1512","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Machleidt et al, 1986, \"Human cathepsins B, H and L: characterization by amino acid sequences and some kinetics of inhibition by the kininogens\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P09668/entry","biology":"Important for the overall degradation of proteins in lysosomes. Location: Lysosome (UniProt). Locus 15q25.1 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"ctss","kind":"target","name":"CTSS","aka":["cathepsin S","Cathepsin S"],"tldr":"CTSS (Cathepsin S) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer and Basal cell carcinoma.","summary":"Thiol protease. Key protease responsible for the removal of the invariant chain from MHC class II molecules and MHC class II antigen presentation. The bond-specificity of this proteinase is in part similar to the specificities of cathepsin L.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2545","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2545"},{"label":"UniProt P25774","url":"https://www.uniprot.org/uniprotkb/P25774/entry"},{"label":"NCBI Gene 1520","url":"https://www.ncbi.nlm.nih.gov/gene/1520"},{"label":"Ensembl ENSG00000163131","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163131"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CTSS","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2545","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2545","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25774","url":"https://www.uniprot.org/uniprotkb/P25774/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163131","url":"https://platform.opentargets.org/target/ENSG00000163131/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: skin cancer 0.50, basal cell carcinoma 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2545","ensembl":"ENSG00000163131","uniprot":"P25774","entrez":"1520","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shi G.-P. et al, J. Biol. Chem, 1992, \"Molecular cloning and expression of human alveolar macrophage cathepsin S, an elastinolytic cysteine protease\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1373132/","biology":"Thiol protease. Key protease responsible for the removal of the invariant chain from MHC class II molecules and MHC class II antigen presentation. The bond-specificity of this proteinase is in part similar to the specificities of cathepsin L. Elicits itch by mediating cleavage and activation of MRGPRX1. Location: Lysosome; Secreted; Cytoplasmic vesicle, phagosome (UniProt). Locus 1q21.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Basal cell carcinoma: Open Targets association 0.52 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"enzyme","prevalence":[]},{"id":"cul1","kind":"target","name":"CUL1","aka":["cullin 1","Cullin-1"],"tldr":"CUL1 (Cullin-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Core component of multiple cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. In the SCF complex, serves as a rigid scaffold that organises the SKP1-F-box protein and RBX1 subunits.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.90, affected pathway 0.83, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2551","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2551"},{"label":"UniProt Q13616","url":"https://www.uniprot.org/uniprotkb/Q13616/entry"},{"label":"NCBI Gene 8454","url":"https://www.ncbi.nlm.nih.gov/gene/8454"},{"label":"Ensembl ENSG00000055130","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000055130"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CUL1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2551","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2551","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13616","url":"https://www.uniprot.org/uniprotkb/Q13616/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000055130","url":"https://platform.opentargets.org/target/ENSG00000055130/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2551","ensembl":"ENSG00000055130","uniprot":"Q13616","entrez":"8454","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kipreos E.T. et al, Cell, 1996, \"cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8681378/","biology":"Core component of multiple cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. In the SCF complex, serves as a rigid scaffold that organises the SKP1-F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and exchange of the substrate recognition component is mediated by TIP120A/CAND1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. Locus 7q36.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"cul3","kind":"target","name":"CUL3","aka":["cullin 3","Cullin-3"],"tldr":"CUL3 (Cullin-3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Non-small-cell lung cancer and Papillary renal cell carcinoma.","summary":"Core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Platinum Doublet. Open Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.95, animal model 0.56, genetic association 0.03, somatic mutation 0.71). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Lung Squamous Cell Carcinoma, Papillary Renal Cell Carcinoma, Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2553","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2553"},{"label":"UniProt Q13618","url":"https://www.uniprot.org/uniprotkb/Q13618/entry"},{"label":"NCBI Gene 8452","url":"https://www.ncbi.nlm.nih.gov/gene/8452"},{"label":"Ensembl ENSG00000036257","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000036257"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["rcc","nsclc","papillary-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CUL3","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2553","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2553","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13618","url":"https://www.uniprot.org/uniprotkb/Q13618/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CUL3","url":"https://civicdb.org/features/6688","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000036257","url":"https://platform.opentargets.org/target/ENSG00000036257/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"},{"label":"IntOGen CUL3","url":"https://www.intogen.org/search?gene=CUL3","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CUL3: RNA tissue enhanced (testis 193 nTPM); high antibody staining in 23 normal tissues; highest cancer staining stomach cancer (12 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q13618","url":"https://www.uniprot.org/uniprotkb/Q13618/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CUL3","url":"https://civicdb.org/features/6688","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen CUL3","url":"https://www.intogen.org/search?gene=CUL3","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CUL3 tissue","url":"https://www.proteinatlas.org/ENSG00000036257-CUL3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000036257 associations","url":"https://platform.opentargets.org/target/ENSG00000036257/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2553","ensembl":"ENSG00000036257","uniprot":"Q13618","entrez":"8452","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kipreos E.T. et al, Cell, 1996, \"cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8681378/","biology":"Core component of multiple cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. BCR complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the BCR complex depends on the BTB domain-containing protein as the substrate recognition component. BCR(KLHL42) is involved in ubiquitination of KATNA1. Location: Nucleus; Golgi apparatus; Cell projection, cilium, flagellum; Cytoplasm, cytoskeleton, spindle (UniProt). Locus 2q36.2 (HGNC).","whereFound":["Renal cell carcinoma: IntOGen driver in 2 cohorts (PRCC, RCC)","Non-small-cell lung cancer: CIViC evidence names this disease; IntOGen driver in 2 cohorts (LUSC)","Papillary renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"cul4a","kind":"target","name":"CUL4A","aka":["cullin 4A","Cullin-4A"],"tldr":"CUL4A (Cullin-4A) is a gene. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma, Myelodysplastic syndromes / neoplasms and 2 more.","summary":"Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2554","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2554"},{"label":"UniProt Q13619","url":"https://www.uniprot.org/uniprotkb/Q13619/entry"},{"label":"NCBI Gene 8451","url":"https://www.ncbi.nlm.nih.gov/gene/8451"},{"label":"Ensembl ENSG00000139842","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139842"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mds","follicular-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CUL4A","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:2554","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2554","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13619","url":"https://www.uniprot.org/uniprotkb/Q13619/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000139842","url":"https://platform.opentargets.org/target/ENSG00000139842/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.59, myelodysplastic syndrome 0.56, follicular lymphoma 0.57, mantle cell lymphoma 0.55 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, dna-repair; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CUL4A: RNA tissue enhanced (skeletal muscle 161 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma, Myeloid neoplasms); Open Targets associates it with 4 specific cancer types at or above 0.5 (plasma cell myeloma, follicular lymphoma, myelodysplastic syndrome, mantle cell lymphoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CUL4A tissue","url":"https://www.proteinatlas.org/ENSG00000139842-CUL4A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139842 associations","url":"https://platform.opentargets.org/target/ENSG00000139842/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2554","ensembl":"ENSG00000139842","uniprot":"Q13619","entrez":"8451","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kipreos E.T. et al, Cell, 1996, \"cul-1 is required for cell cycle exit in C. elegans and identifies a novel gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8681378/","biology":"Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. DCX(DET1-COP1) directs ubiquitination of JUN. DCX(DDB2) directs ubiquitination of XPC. Locus 13q34 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.56 with myelodysplastic syndrome (MONDO_0018881)","Follicular lymphoma: Open Targets association 0.57 with follicular lymphoma (MONDO_0018906)","Mantle cell lymphoma: Open Targets association 0.55 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"cul7","kind":"target","name":"CUL7","aka":["cullin 7","Cullin-7","dJ20C7.5","KIAA0076"],"tldr":"CUL7 (Cullin-7) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Glioma & glioblastoma.","summary":"Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21024","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21024"},{"label":"UniProt Q14999","url":"https://www.uniprot.org/uniprotkb/Q14999/entry"},{"label":"NCBI Gene 9820","url":"https://www.ncbi.nlm.nih.gov/gene/9820"},{"label":"Ensembl ENSG00000044090","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000044090"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Brain Glioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CUL7","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:21024","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21024","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14999","url":"https://www.uniprot.org/uniprotkb/Q14999/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CUL7","url":"https://civicdb.org/features/7780","note":"2 evidence items, 0 assertions, 1 variants; diseases: Glioblastoma, Brain Glioma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA CUL7: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining stomach cancer (1 of 8 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CUL7 tissue","url":"https://www.proteinatlas.org/ENSG00000044090-CUL7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000044090 associations","url":"https://platform.opentargets.org/target/ENSG00000044090/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:21024","ensembl":"ENSG00000044090","uniprot":"Q14999","entrez":"9820","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584044/","biology":"Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer. The Cul7-RING(FBXW8) complex alone lacks ubiquitination activity and does not promote polyubiquitination and proteasomal degradation of p53/TP53. However it mediates recruitment of p53/TP53 for ubiquitination by neddylated CUL1-RBX1. Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5. Location: Cytoplasm; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, perinuclear region; Golgi apparatus (UniProt). Locus 6p21.1 (HGNC).","whereFound":["Glioma & glioblastoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"cux1","kind":"target","name":"CUX1","aka":["cut like homeobox 1","Homeobox protein cut-like 1","CDP1","Clox","CDP/Cut","CDP/Cux","Cux/CDP","GOLIM6","CUTL1"],"tldr":"CUX1 (Homeobox protein cut-like 1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer, Leukaemia, Breast cancer and 5 more.","summary":"Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis.\n\nOpen Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes affected pathway 0.95, literature 0.96, genetic association 0.67, somatic mutation 0.88, animal model 0.69). IntOGen calls it a driver in 7 cohorts (2 activating, 5 loss-of-function), covering Invasive Breast Carcinoma, Glioblastoma, Lung Adenocarcinoma, Lung Squamous Cell Carcinoma, Melanoma, Pancreatic Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2557","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2557"},{"label":"UniProt P39880","url":"https://www.uniprot.org/uniprotkb/P39880/entry"},{"label":"NCBI Gene 1523","url":"https://www.ncbi.nlm.nih.gov/gene/1523"},{"label":"Ensembl ENSG00000257923","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000257923"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","leukaemia","breast-cancer","non-hodgkin-lymphoma","pancreatic","thyroid","lung-cancer","myeloproliferative-neoplasms"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CUX1","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2557","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2557","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P39880","url":"https://www.uniprot.org/uniprotkb/P39880/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000257923","url":"https://platform.opentargets.org/target/ENSG00000257923/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.50, gastric cancer 0.50, melanoma 0.61, acute lymphoblastic leukaemia 0.57, non-Hodgkin lymphoma 0.58, skin cancer 0.67 (GraphQL API, CC0)"},{"label":"IntOGen CUX1","url":"https://www.intogen.org/search?gene=CUX1","note":"driver in 7 cohorts (Act 2, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2557","ensembl":"ENSG00000257923","uniprot":"P39880","entrez":"1523","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Neufeld E.J. et al, Nat. Genet, 1992, \"Human CCAAT displacement protein is homologous to the Drosophila homeoprotein, cut\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1301999/","biology":"Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addition, it has probably a broad role in mammalian development as a repressor of developmentally regulated gene expression. May act by preventing binding of positively-activing CCAAT factors to promoters. Component of nf-munr repressor; binds to the matrix attachment regions (MARs) (5' and 3') of the immunoglobulin heavy chain enhancer. Location: Nucleus (UniProt). Locus 7q22.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.67 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.66 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.66 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Non-Hodgkin lymphoma: Open Targets association 0.58 with non-Hodgkin lymphoma (MONDO_0018908)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)"],"targetClass":"transcription","prevalence":[]},{"id":"cx3cl1","kind":"target","name":"CX3CL1","aka":["C-X3-C motif chemokine ligand 1","Fractalkine","C3Xkine","ABCD-3","CXC3C","CXC3","SCYD1"],"tldr":"CX3CL1 (Fractalkine) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"Chemokine that acts as a ligand for both CX3CR1 and integrins ITGAV:ITGB3 and ITGA4:ITGB1. The CX3CR1-CX3CL1 signalling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis. Regulates leukocyte adhesion and migration processes at the endothelium.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Atezolizumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10647","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10647"},{"label":"UniProt P78423","url":"https://www.uniprot.org/uniprotkb/P78423/entry"},{"label":"NCBI Gene 6376","url":"https://www.ncbi.nlm.nih.gov/gene/6376"},{"label":"Ensembl ENSG00000006210","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000006210"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CX3CL1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10647","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10647","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78423","url":"https://www.uniprot.org/uniprotkb/P78423/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CX3CL1","url":"https://civicdb.org/features/5167","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA CX3CL1: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining colorectal cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CX3CL1 tissue","url":"https://www.proteinatlas.org/ENSG00000006210-CX3CL1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000006210 associations","url":"https://platform.opentargets.org/target/ENSG00000006210/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10647","ensembl":"ENSG00000006210","uniprot":"P78423","entrez":"6376","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pan et al, Nature, 1997, \"Neurotactin, a membrane-anchored chemokine upregulated in brain inflammation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9177350/","biology":"Chemokine that acts as a ligand for both CX3CR1 and integrins ITGAV:ITGB3 and ITGA4:ITGB1. The CX3CR1-CX3CL1 signalling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis. Regulates leukocyte adhesion and migration processes at the endothelium. Can activate integrins in both a CX3CR1-dependent and CX3CR1-independent manner. In the presence of CX3CR1, activates integrins by binding to the classical ligand-binding site (site 1) in integrins. In the absence of CX3CR1, binds to a second site (site 2) in integrins which is distinct from site 1 and enhances the binding of other integrin ligands to site 1. Location: Cell membrane; Secreted (UniProt). Locus 16q21 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"cxcl10","kind":"target","name":"CXCL10","aka":["C-X-C motif chemokine ligand 10","C-X-C motif chemokine 10","IFI10","IP-10","crg-2","mob-1","C7","gIP-10","INP10","SCYB10"],"tldr":"CXCL10 (C-X-C motif chemokine 10) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Osteosarcoma.","summary":"Pro-inflammatory cytokine that is involved in a wide variety of processes such as chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects. Plays thereby an important role during viral infections by stimulating the activation and migration of immune cells to the infected sites. Mechanistically, binding of CXCL10 to the CXCR3 receptor activates G protein-mediated signalling and results in downstream activation of phospholipase C-dependent pathway, an increase in intracellular calcium production and actin reorganisation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10637","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10637"},{"label":"UniProt P02778","url":"https://www.uniprot.org/uniprotkb/P02778/entry"},{"label":"NCBI Gene 3627","url":"https://www.ncbi.nlm.nih.gov/gene/3627"},{"label":"Ensembl ENSG00000169245","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169245"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["osteosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cgas-sting"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CXCL10","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10637","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10637","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02778","url":"https://www.uniprot.org/uniprotkb/P02778/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CXCL10","url":"https://civicdb.org/features/3017","note":"1 evidence items, 0 assertions, 1 variants; diseases: Osteosarcoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CXCL10: RNA tissue enhanced (lymphoid tissue 90 nTPM); blood lineage lineage enriched (monocytes 53 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CXCL10 tissue","url":"https://www.proteinatlas.org/ENSG00000169245-CXCL10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169245 associations","url":"https://platform.opentargets.org/target/ENSG00000169245/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10637","ensembl":"ENSG00000169245","uniprot":"P02778","entrez":"3627","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Luster A.D. et al, Nature, 1985, \"Gamma-interferon transcriptionally regulates an early-response gene containing homology to platelet proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3925348/","biology":"Pro-inflammatory cytokine that is involved in a wide variety of processes such as chemotaxis, differentiation, and activation of peripheral immune cells, regulation of cell growth, apoptosis and modulation of angiostatic effects. Plays thereby an important role during viral infections by stimulating the activation and migration of immune cells to the infected sites. Mechanistically, binding of CXCL10 to the CXCR3 receptor activates G protein-mediated signalling and results in downstream activation of phospholipase C-dependent pathway, an increase in intracellular calcium production and actin reorganisation. In turn, recruitment of activated Th1 lymphocytes occurs at sites of inflammation. Activation of the CXCL10/CXCR3 axis also plays an important role in neurons in response to brain injury for activating microglia, the resident macrophage population of the central nervous system, and directing them to the lesion site. This recruitment is an essential element for neuronal reorganisation. Location: Secreted (UniProt). Locus 4q21.1 (HGNC).","whereFound":["Osteosarcoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"cxcr4","kind":"target","name":"CXCR4","aka":[],"tldr":"A chemokine receptor that anchors blood cells in the marrow and helps cancer cells home to it; mutated in a third of Waldenström patients and targeted by plerixafor for stem-cell mobilisation.","summary":"CXCR4 binds CXCL12 (SDF-1) to retain haematopoietic stem cells in the marrow niche and guides metastasis of solid tumours to bone. Plerixafor (2008) blocks it to mobilise stem cells for autologous transplant; motixafortide (2023) does the same in myeloma. WHIM-like CXCR4 mutations in ~30-40% of Waldenström macroglobulinaemia slow BTK-inhibitor response; mavorixafor is in trials. CXCR4 is also imaged with Ga-68 pentixafor and treated with Lu-177 pentixather in marginal zone lymphoma and myeloma (theranostic, experimental). Balixafortide and ulocuplumab failed in solid tumours.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/CXCR4","links":[{"label":"CXCR4 in WM (Blood 2014)","url":"https://doi.org/10.1182/blood-2014-01-550905"}],"tags":["gap-fill"],"related":[],"cancers":["waldenstrom","multiple-myeloma","aml"],"sections":[],"technologies":["autologous-stem-cell-transplant","radioligand-therapy"],"targets":[],"drugs":["mavorixafor","plerixafor"],"companies":[],"institutions":[],"pathways":[],"terms":["theranostics"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-treon-blood"],"journals":[],"dependsOn":[],"notes":[],"symbol":"CXCR4","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA CXCR4: RNA tissue enhanced (bone marrow 1,175 nTPM, lymphoid tissue 523 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma, Leukaemia); Open Targets associates it with 3 specific cancer types at or above 0.5 (plasma cell myeloma, non-Hodgkin lymphoma, lymphoma). (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CXCR4 tissue","url":"https://www.proteinatlas.org/ENSG00000121966-CXCR4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P61073","url":"https://www.uniprot.org/uniprotkb/P61073/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000121966 associations","url":"https://platform.opentargets.org/target/ENSG00000121966/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2561","ensembl":"ENSG00000121966","uniprot":"P61073","entrez":"7852","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Herzog et al, DNA Cell Biol, 1993, \"Molecular cloning, characterization, and localization of the human homolog to the reported bovine NPY Y3 receptor: lack of NPY binding and activation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8329116/","biology":"G-protein-coupled receptor; CXCL12 binding activates Gαi, PI3K/AKT and MAPK, promoting chemotaxis, survival and retention in stromal niches; truncating C-terminal mutations impair receptor internalisation (WHIM syndrome).","whereFound":["Waldenström macroglobulinaemia (30-40% mutation)","Myeloma, lymphoma, AML (expression)","Breast, prostate and other solid tumours (metastatic homing)"],"targetClass":"other","prevalence":[{"cancerId":"waldenstrom","pct":"30-40","measure":"CXCR4 mutation","source":"https://doi.org/10.1182/blood-2014-01-550905"}]},{"id":"cyld","kind":"target","name":"CYLD","aka":["CYLD lysine 63 deubiquitinase","Ubiquitin carboxyl-terminal hydrolase CYLD","KIAA0849","USPL2","CYLD1"],"tldr":"CYLD (Ubiquitin carboxyl-terminal hydrolase CYLD) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Breast cancer, Colorectal cancer and 5 more.","summary":"Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-induced necroptosis. Negatively regulates NF-kappa-B activation by deubiquitinating upstream signalling factors. Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.98, animal model 0.44, genetic association 0.02, somatic mutation 0.94). IntOGen calls it a driver in 11 cohorts (2 activating, 7 loss-of-function), covering Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Colorectal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Nasopharyngeal Carcinoma, Non-Small Cell Lung Cancer and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2584","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2584"},{"label":"UniProt Q9NQC7","url":"https://www.uniprot.org/uniprotkb/Q9NQC7/entry"},{"label":"NCBI Gene 1540","url":"https://www.ncbi.nlm.nih.gov/gene/1540"},{"label":"Ensembl ENSG00000083799","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083799"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","breast-cancer","colorectal","head-and-neck","nasopharyngeal","multiple-myeloma","prostate","rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 7 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CYLD","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2584","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2584","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NQC7","url":"https://www.uniprot.org/uniprotkb/Q9NQC7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000083799","url":"https://platform.opentargets.org/target/ENSG00000083799/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: melanoma 0.58, skin cancer 0.57, thymic carcinoma 0.51 (GraphQL API, CC0)"},{"label":"IntOGen CYLD","url":"https://www.intogen.org/search?gene=CYLD","note":"driver in 11 cohorts (Act 2, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2584","ensembl":"ENSG00000083799","uniprot":"Q9NQC7","entrez":"1540","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10048485/","biology":"Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-induced necroptosis. Negatively regulates NF-kappa-B activation by deubiquitinating upstream signalling factors. Contributes to the regulation of cell survival, proliferation and differentiation via its effects on NF-kappa-B activation. Negative regulator of Wnt signalling. Inhibits HDAC6 and thereby promotes acetylation of alpha-tubulin and stabilisation of microtubules. Plays a role in the regulation of microtubule dynamics, and thereby contributes to the regulation of cell proliferation, cell polarisation, cell migration, and angiogenesis. Location: Cytoplasm; Cytoplasm, perinuclear region; Cytoplasm, cytoskeleton; Cell membrane (UniProt). Locus 16q12.1 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Breast cancer: IntOGen driver in 1 cohort (BRCA)","Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"enzyme","prevalence":[]},{"id":"cyp11a1","kind":"target","name":"CYP11A1 (cholesterol side-chain cleavage enzyme)","aka":[],"tldr":"CYP11A1 is the first enzyme in making every steroid hormone from cholesterol; the historic breast cancer drug aminoglutethimide blocked it, cutting oestrogen and adrenal steroids, before aromatase inhibitors made that approach precise.","summary":"CYP11A1 converts cholesterol to pregnenolone inside mitochondria, the rate-limiting first step for cortisol, aldosterone, androgens and oestrogens. Aminoglutethimide, introduced for advanced breast cancer and Cushing's syndrome in the 1960s and 1970s, inhibited CYP11A1 and aromatase, producing a medical adrenalectomy that required cortisol replacement; it was displaced by the selective aromatase inhibitors anastrozole, letrozole and exemestane. Blocking steroid synthesis further downstream at CYP17A1 with abiraterone is the modern equivalent in prostate cancer. The enzyme is also a marker of adrenocortical carcinoma.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Cholesterol_side-chain_cleavage_enzyme","links":[{"label":"UniProt P05108: CYP11A1","url":"https://www.uniprot.org/uniprotkb/P05108/entry"},{"label":"HGNC:2590 CYP11A1","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2590"},{"label":"ChEMBL target CHEMBL2033","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2033"}],"tags":["chembl-gap"],"related":["cyp17a1","aromatase"],"cancers":["breast-hr-positive","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["aminoglutethimide"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CYP11A1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Kidney Chromophobe (TCGA)) and tissue enriched in normal adrenal gland, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA CYP11A1: RNA tissue enriched (adrenal gland 991 nTPM); blood lineage lineage enriched (granulocytes 10 nTPM); high antibody staining in 3 normal tissues. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Prostate cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, adrenal cortex carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CYP11A1 tissue","url":"https://www.proteinatlas.org/ENSG00000140459-CYP11A1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CYP11A1 pathology","url":"https://www.proteinatlas.org/ENSG00000140459-CYP11A1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000140459 associations","url":"https://platform.opentargets.org/target/ENSG00000140459/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2590","ensembl":"ENSG00000140459","uniprot":"P05108","entrez":"1583","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chung B.-C. et al, Proc. Natl. Acad. Sci. U.S.A, 1986, \"Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3024157/","biology":"A mitochondrial cytochrome P450 of adrenal cortex, gonads and placenta; it requires adrenodoxin and adrenodoxin reductase to receive electrons from NADPH.","whereFound":["Adrenal cortex, ovary, testis and placenta","Adrenocortical carcinoma and steroid-producing tumours"],"targetClass":"enzyme","prevalence":[{"cancerId":"breast-hr-positive","pct":"host","measure":"Host target: first enzyme of steroid synthesis. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"cyp11b1","kind":"target","name":"CYP11B1","aka":["cytochrome P450 family 11 subfamily B member 1","Cytochrome P450 11B1, mitochondrial","P450C11","CPN1","CYP11B"],"tldr":"CYP11B1 (Cytochrome P450 11B1, mitochondrial) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Renal cell carcinoma.","summary":"A cytochrome P450 monooxygenase mainly involved in the biosynthesis of adrenal corticoids. Catalyses a variety of reactions that are essential for many species, including detoxification, defense, and the formation of endogenous chemicals like steroid hormones. Steroid 11beta, 18- and 19-hydroxylase with preferred regioselectivity at 11beta, then 18, and lastly 19.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.27, animal model 0.54, genetic association 0.00, clinical 0.83).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2591"},{"label":"UniProt P15538","url":"https://www.uniprot.org/uniprotkb/P15538/entry"},{"label":"NCBI Gene 1584","url":"https://www.ncbi.nlm.nih.gov/gene/1584"},{"label":"Ensembl ENSG00000160882","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160882"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.83. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CYP11B1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:2591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2591","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15538","url":"https://www.uniprot.org/uniprotkb/P15538/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000160882","url":"https://platform.opentargets.org/target/ENSG00000160882/associations","note":"association with cancer (MONDO_0004992) 0.52; per-cancer scores at or above 0.5: renal cell carcinoma 0.52 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CYP11B1: RNA tissue enriched (adrenal gland 3,345 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (adrenal cortex carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CYP11B1 tissue","url":"https://www.proteinatlas.org/ENSG00000160882-CYP11B1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000160882 associations","url":"https://platform.opentargets.org/target/ENSG00000160882/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2591","ensembl":"ENSG00000160882","uniprot":"P15538","entrez":"1584","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chua S.C. et al, Proc. Natl. Acad. Sci. U.S.A, 1987, \"Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3499608/","biology":"A cytochrome P450 monooxygenase mainly involved in the biosynthesis of adrenal corticoids. Catalyses a variety of reactions that are essential for many species, including detoxification, defense, and the formation of endogenous chemicals like steroid hormones. Steroid 11beta, 18- and 19-hydroxylase with preferred regioselectivity at 11beta, then 18, and lastly 19. Catalyses the hydroxylation of 11-deoxycortisol and 11-deoxycorticosterone (21-hydroxyprogesterone) at 11beta position, yielding cortisol or corticosterone, respectively, but cannot produce aldosterone. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate for hydroxylation and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin). Location: Mitochondrion inner membrane (UniProt). Locus 8q24.3 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.52 with renal cell carcinoma (MONDO_0005086)"],"targetClass":"enzyme","prevalence":[]},{"id":"cyp17a1","kind":"target","name":"CYP17A1 (17-alpha-hydroxylase/17,20-lyase)","aka":[],"tldr":"The enzyme that makes androgens in the testes, the adrenal glands and prostate tumours themselves. Abiraterone blocks it, cutting androgen production below what castration alone achieves.","summary":"CYP17A1 catalyses two steps, 17-alpha-hydroxylation and 17,20-lyase cleavage, that convert pregnenolone and progesterone into DHEA and androstenedione, the precursors of testosterone and dihydrotestosterone. Because castration-resistant prostate cancer keeps making androgens from adrenal precursors and inside the tumour, blocking CYP17A1 with abiraterone lowers androgens further than castration and restores control in many patients. Blocking the enzyme also diverts steroid synthesis towards mineralocorticoids, which is why abiraterone is given with prednisone or prednisolone.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CYP17A1","links":[{"label":"UniProt P05093: CYP17A1","url":"https://www.uniprot.org/uniprotkb/P05093/entry"}],"tags":[],"related":["androgen-receptor"],"cancers":["prostate","prostate-mcrpc"],"sections":[],"technologies":[],"targets":[],"drugs":["abiraterone"],"companies":[],"institutions":[],"pathways":[],"terms":["castration-resistance","mcrpc-mhspc"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-taplin-ar-mutation-androgen-independent-prostate-nejm-1995"],"journals":[],"dependsOn":[],"notes":["Prostate cancer: the reason the AR L702H allele matters. L702H makes the receptor responsive to glucocorticoid, and abiraterone, a CYP17A1 inhibitor, is given with prednisone or prednisolone to offset mineralocorticoid excess, so the steroid given with the drug can in principle feed a receptor carrying that allele."],"symbol":"CYP17A1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Liver Hepatocellular Carcinoma (TCGA)) and tissue enriched in normal adrenal gland, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA CYP17A1: RNA tissue enriched (adrenal gland 8,353 nTPM); high antibody staining in 2 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (17,20-lyase deficiency, isolated, prostate cancer); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CYP17A1 tissue","url":"https://www.proteinatlas.org/ENSG00000148795-CYP17A1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CYP17A1 pathology","url":"https://www.proteinatlas.org/ENSG00000148795-CYP17A1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000148795 associations","url":"https://platform.opentargets.org/target/ENSG00000148795/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2593","ensembl":"ENSG00000148795","uniprot":"P05093","entrez":"1586","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chung B.-C. et al, Proc. Natl. Acad. Sci. U.S.A, 1987, \"Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3025870/","biology":"Cytochrome P450 enzyme of the adrenal cortex, testis and prostate cancer cells; the rate-limiting step of androgen synthesis from pregnenolone.","whereFound":["Prostate cancer, including intratumoral androgen synthesis in castration-resistant disease"],"targetClass":"enzyme","prevalence":[{"cancerId":"prostate","pct":"nearly all","measure":"Androgen-driven at diagnosis; abiraterone acts on androgen synthesis in almost every prostate cancer, resistance develops later","source":"https://www.cancer.gov/types/prostate/hp/prostate-treatment-pdq"}]},{"id":"cyp1b1","kind":"target","name":"CYP1B1","aka":["cytochrome P450 family 1 subfamily B member 1","Cytochrome P450 1B1","CP1B","GLC3A"],"tldr":"CYP1B1 (Cytochrome P450 1B1) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Melanoma and Basal cell carcinoma.","summary":"A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--haemoprotein reductase). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.98, animal model 0.68, genetic association 0.74).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2597","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2597"},{"label":"UniProt Q16678","url":"https://www.uniprot.org/uniprotkb/Q16678/entry"},{"label":"NCBI Gene 1545","url":"https://www.ncbi.nlm.nih.gov/gene/1545"},{"label":"Ensembl ENSG00000138061","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138061"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","melanoma","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["chemical-carcinogenesis-receptor-activation"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CYP1B1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2597","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2597","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16678","url":"https://www.uniprot.org/uniprotkb/Q16678/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138061","url":"https://platform.opentargets.org/target/ENSG00000138061/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: melanoma 0.56, skin cancer 0.55, basal cell carcinoma 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2597","ensembl":"ENSG00000138061","uniprot":"Q16678","entrez":"1545","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sutter T.R. et al, J. Biol. Chem, 1994, \"Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8175734/","biology":"A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--haemoprotein reductase). Exhibits catalytic activity for the formation of hydroxyestrogens from estrone (E1) and 17beta-estradiol (E2), namely 2- and 4-hydroxy E1 and E2. Displays a predominant hydroxylase activity toward E2 at the C-4 position. Metabolises testosterone and progesterone to B or D ring hydroxylated metabolites. May act as a major enzyme for all-trans retinoic acid biosynthesis in extrahepatic tissues. Location: Endoplasmic reticulum membrane; Microsome membrane; Mitochondrion (UniProt). Locus 2p22.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.56 with melanoma (MONDO_0005105)","Basal cell carcinoma: Open Targets association 0.55 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"enzyme","prevalence":[]},{"id":"cyp2c8","kind":"target","name":"CYP2C8","aka":["cytochrome P450 family 2 subfamily C member 8","Cytochrome P450 2C8","CPC8"],"tldr":"CYP2C8 (Cytochrome P450 2C8) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma, Melanoma and Pleural mesothelioma.","summary":"A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--haemoprotein reductase). Primarily catalyses the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) with a preference for the last double bond.\n\nIntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Melanoma, Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2622","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2622"},{"label":"UniProt P10632","url":"https://www.uniprot.org/uniprotkb/P10632/entry"},{"label":"NCBI Gene 1558","url":"https://www.ncbi.nlm.nih.gov/gene/1558"},{"label":"Ensembl ENSG00000138115","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138115"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["mesothelioma","melanoma","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CYP2C8","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2622","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2622","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10632","url":"https://www.uniprot.org/uniprotkb/P10632/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen CYP2C8","url":"https://www.intogen.org/search?gene=CYP2C8","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2622","ensembl":"ENSG00000138115","uniprot":"P10632","entrez":"1558","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Okino S.T. et al, J. Biol. Chem, 1987, \"Characterization of multiple human cytochrome P-450 1 cDNAs. The chromosomal localization of the gene and evidence for alternate RNA splicing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3500169/","biology":"A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--haemoprotein reductase). Primarily catalyses the epoxidation of double bonds of polyunsaturated fatty acids (PUFA) with a preference for the last double bond. Catalyses the hydroxylation of carbon-hydrogen bonds. Metabolises all trans-retinoic acid toward its 4-hydroxylated form. Displays 16-alpha hydroxylase activity toward oestrogen steroid hormones, 17beta-estradiol (E2) and estrone (E1). Location: Endoplasmic reticulum membrane; Microsome membrane (UniProt). Locus 10q23.33 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Melanoma: IntOGen driver in 1 cohort (MEL)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"oncogene","prevalence":[]},{"id":"cyp2d6","kind":"target","name":"CYP2D6","aka":["cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)","Cytochrome P450 2D6","CPD6","P450-DB1","CYP2D","P450C2D","CYP2DL1","CYP2D7P2","CYP2D7BP","CYP2D8P2","CYP2D7AP"],"tldr":"CYP2D6 (Cytochrome P450 2D6) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--haemoprotein reductase). Catalyses the epoxidation of double bonds of polyunsaturated fatty acids (PUFA).\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2625","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2625"},{"label":"UniProt P10635","url":"https://www.uniprot.org/uniprotkb/P10635/entry"},{"label":"NCBI Gene 1565","url":"https://www.ncbi.nlm.nih.gov/gene/1565"},{"label":"Ensembl ENSG00000100197","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100197"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct03351062"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CYP2D6","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2625","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2625","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10635","url":"https://www.uniprot.org/uniprotkb/P10635/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CYP2D6","url":"https://civicdb.org/features/1342","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA CYP2D6: RNA tissue enriched (liver 386 nTPM); high antibody staining in 1 normal tissue; highest cancer staining liver cancer (2 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas CYP2D6 tissue","url":"https://www.proteinatlas.org/ENSG00000100197-CYP2D6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100197 associations","url":"https://platform.opentargets.org/target/ENSG00000100197/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2625","ensembl":"ENSG00000100197","uniprot":"P10635","entrez":"1565","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gonzalez F.J. et al, Genomics, 1988, \"Human debrisoquine 4-hydroxylase (P450IID1): cDNA and deduced amino acid sequence and assignment of the CYP2D locus to chromosome 22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3410476/","biology":"A cytochrome P450 monooxygenase involved in the metabolism of fatty acids, steroids and retinoids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--haemoprotein reductase). Catalyses the epoxidation of double bonds of polyunsaturated fatty acids (PUFA). Metabolises endocannabinoid arachidonoylethanolamide (anandamide) to 20-hydroxyeicosatetraenoic acid ethanolamide (20-HETE-EA) and 8,9-, 11,12-, and 14,15-epoxyeicosatrienoic acid ethanolamides (EpETrE-EAs), potentially modulating endocannabinoid system signalling. Catalyses the hydroxylation of carbon-hydrogen bonds. Metabolises cholesterol toward 25-hydroxycholesterol, a physiological regulator of cellular cholesterol homeostasis. Location: Endoplasmic reticulum membrane; Microsome membrane (UniProt). Locus 22q13.2 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"cysltr2","kind":"target","name":"CYSLTR2","aka":["cysteinyl leukotriene receptor 2","Cysteinyl leukotriene receptor 2","CysLT(2)","CYSLT2R"],"tldr":"CYSLTR2 (Cysteinyl leukotriene receptor 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Cervical cancer and Uveal melanoma.","summary":"Receptor for cysteinyl leukotrienes. The response is mediated via a G protein that activates a phosphatidylinositol-calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Cervical Adenocarcinoma, Uveal Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18274","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18274"},{"label":"UniProt Q9NS75","url":"https://www.uniprot.org/uniprotkb/Q9NS75/entry"},{"label":"NCBI Gene 57105","url":"https://www.ncbi.nlm.nih.gov/gene/57105"},{"label":"Ensembl ENSG00000152207","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000152207"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["cervical","uveal-melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"CYSLTR2","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18274","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18274","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NS75","url":"https://www.uniprot.org/uniprotkb/Q9NS75/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CYSLTR2","url":"https://civicdb.org/features/13648","note":"1 evidence items, 0 assertions, 1 variants; diseases: Cancer (GraphQL API, CC0)"},{"label":"IntOGen CYSLTR2","url":"https://www.intogen.org/search?gene=CYSLTR2","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CYSLTR2: RNA tissue enhanced (placenta 22 nTPM, seminal vesicle 15 nTPM); blood lineage lineage enriched (granulocytes 90 nTPM); high antibody staining in 14 normal tissues; highest cancer staining prostate cancer (12 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Cervical cancer, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9NS75","url":"https://www.uniprot.org/uniprotkb/Q9NS75/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene CYSLTR2","url":"https://civicdb.org/features/13648","note":"1 evidence items, 0 assertions, 1 variants; diseases: Cancer (GraphQL API, CC0)"},{"label":"IntOGen CYSLTR2","url":"https://www.intogen.org/search?gene=CYSLTR2","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas CYSLTR2 tissue","url":"https://www.proteinatlas.org/ENSG00000152207-CYSLTR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000152207 associations","url":"https://platform.opentargets.org/target/ENSG00000152207/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18274","ensembl":"ENSG00000152207","uniprot":"Q9NS75","entrez":"57105","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takasaki et al, Biochem. Biophys. Res. Commun, 2000, \"The molecular characterization and tissue distribution of the human cysteinyl leukotriene CysLT2 receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10913337/","biology":"Receptor for cysteinyl leukotrienes. The response is mediated via a G protein that activates a phosphatidylinositol-calcium second messenger system. Stimulation by BAY u9773, a partial agonist, induces specific contractions of pulmonary veins and might also have an indirect role in the relaxation of the pulmonary vascular endothelium. The rank order of affinities for the leukotrienes is LTC4 = LTD4 >> LTE4. Location: Cell membrane (UniProt). Locus 13q14.2 (HGNC).","whereFound":["Cervical cancer: IntOGen driver in 1 cohort (CEAD)","Uveal melanoma: IntOGen driver in 1 cohort (UM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"daxx","kind":"target","name":"DAXX","aka":["death domain associated protein","Death domain-associated protein 6","DAP6"],"tldr":"DAXX (Death domain-associated protein 6) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Neuroendocrine tumours, Adrenocortical carcinoma, Pancreatic ductal adenocarcinoma and 2 more.","summary":"Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.61, genetic association 0.00, somatic mutation 0.91). IntOGen calls it a driver in 3 cohorts (0 activating, 3 loss-of-function), covering Adrenocortical Carcinoma, Pancreas, Pancreatic Neuroendocrine Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2681","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2681"},{"label":"UniProt Q9UER7","url":"https://www.uniprot.org/uniprotkb/Q9UER7/entry"},{"label":"NCBI Gene 1616","url":"https://www.ncbi.nlm.nih.gov/gene/1616"},{"label":"Ensembl ENSG00000204209","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204209"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["neuroendocrine","adrenocortical","pancreatic","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["telomere-maintenance"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DAXX","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2681","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2681","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UER7","url":"https://www.uniprot.org/uniprotkb/Q9UER7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000204209","url":"https://platform.opentargets.org/target/ENSG00000204209/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: melanoma 0.55, neuroendocrine neoplasm 0.61, skin cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen DAXX","url":"https://www.intogen.org/search?gene=DAXX","note":"driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2681","ensembl":"ENSG00000204209","uniprot":"Q9UER7","entrez":"1616","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yang et al, Cell, 1997, \"Daxx, a novel Fas-binding protein that activates JNK and apoptosis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9215629/","biology":"Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear compartments like the nucleolus or PML/POD/ND10 nuclear bodies through interactions with MCSR1 and PML, respectively. Seems to regulate transcription in PML/POD/ND10 nuclear bodies together with PML and may influence TNFRSF6-dependent apoptosis thereby. Inhibits transcriptional activation of PAX3 and ETS1 through direct protein-protein interactions. Modulates PAX5 activity; the function seems to involve CREBBP. Location: Cytoplasm; Nucleus, nucleoplasm; Nucleus, PML body; Nucleus, nucleolus (UniProt). Locus 6p21.32 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.61 with neuroendocrine neoplasm (MONDO_0019496); IntOGen driver in 1 cohort (PANET)","Adrenocortical carcinoma: IntOGen driver in 1 cohort (ACC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PANCREAS)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"dazap1","kind":"target","name":"DAZAP1","aka":["DAZ associated protein 1","DAZ-associated protein 1","MGC19907"],"tldr":"DAZAP1 (DAZ-associated protein 1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Mantle cell lymphoma.","summary":"RNA-binding protein, which may be required during spermatogenesis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2683","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2683"},{"label":"UniProt Q96EP5","url":"https://www.uniprot.org/uniprotkb/Q96EP5/entry"},{"label":"NCBI Gene 26528","url":"https://www.ncbi.nlm.nih.gov/gene/26528"},{"label":"Ensembl ENSG00000071626","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000071626"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DAZAP1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2683","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2683","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96EP5","url":"https://www.uniprot.org/uniprotkb/Q96EP5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DAZAP1","url":"https://civicdb.org/features/10239","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA DAZAP1: RNA low tissue specificity; high antibody staining in 27 normal tissues; highest cancer staining lymphoma (9 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DAZAP1 tissue","url":"https://www.proteinatlas.org/ENSG00000071626-DAZAP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000071626 associations","url":"https://platform.opentargets.org/target/ENSG00000071626/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2683","ensembl":"ENSG00000071626","uniprot":"Q96EP5","entrez":"26528","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tsui et al, Genomics, 2000, \"Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10857750/","biology":"RNA-binding protein, which may be required during spermatogenesis. Location: Cytoplasm; Nucleus (UniProt). Locus 19p13.3 (HGNC).","whereFound":["Mantle cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"dcaf12l2","kind":"target","name":"DCAF12L2","aka":["DDB1 and CUL4 associated factor 12 like 2","DDB1- and CUL4-associated factor 12-like protein 2","WDR40C"],"tldr":"DCAF12L2 (DDB1- and CUL4-associated factor 12-like protein 2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Prostate cancer, Glioma & glioblastoma and 1 more.","summary":"UniProt has no function text for Q5VW00; HGNC names it \"DDB1 and CUL4 associated factor 12 like 2\".\n\nIntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Colon Adenocarcinoma, Glioblastoma Multiforme, Lung Adenocarcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:32950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:32950"},{"label":"UniProt Q5VW00","url":"https://www.uniprot.org/uniprotkb/Q5VW00/entry"},{"label":"NCBI Gene 340578","url":"https://www.ncbi.nlm.nih.gov/gene/340578"},{"label":"Ensembl ENSG00000198354","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198354"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal","prostate","glioblastoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DCAF12L2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:32950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:32950","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5VW00","url":"https://www.uniprot.org/uniprotkb/Q5VW00/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen DCAF12L2","url":"https://www.intogen.org/search?gene=DCAF12L2","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:32950","ensembl":"ENSG00000198354","uniprot":"Q5VW00","entrez":"340578","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"UniProt has no function text for Q5VW00; HGNC names it \"DDB1 and CUL4 associated factor 12 like 2\". Locus Xq25 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 1 cohort (COAD)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"dcc","kind":"target","name":"DCC","aka":["DCC netrin 1 receptor","Netrin receptor DCC","IGDCC1","NTN1R1"],"tldr":"DCC (Netrin receptor DCC) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Oesophageal cancer, Hepatocellular carcinoma and 3 more.","summary":"Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signalling for axon repulsion.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.87, animal model 0.70, genetic association 0.62, somatic mutation 0.63). IntOGen calls it a driver in 5 cohorts (2 activating, 3 loss-of-function), covering Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma, Pancreatic Adenocarcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2701","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2701"},{"label":"UniProt P43146","url":"https://www.uniprot.org/uniprotkb/P43146/entry"},{"label":"NCBI Gene 1630","url":"https://www.ncbi.nlm.nih.gov/gene/1630"},{"label":"Ensembl ENSG00000187323","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187323"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","esophageal","hcc","pancreatic","prostate","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["colorectal-cancer-signalling"],"terms":[],"trials":["nct03069469","nct05957367","nct06630234"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DCC","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2701","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2701","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P43146","url":"https://www.uniprot.org/uniprotkb/P43146/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DCC","url":"https://civicdb.org/features/1396","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000187323","url":"https://platform.opentargets.org/target/ENSG00000187323/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: colorectal cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen DCC","url":"https://www.intogen.org/search?gene=DCC","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA DCC: RNA tissue enhanced (brain 3 nTPM, testis 7 nTPM); high antibody staining in 1 normal tissue. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Oesophageal cancer, Hepatocellular carcinoma, Pancreatic ductal adenocarcinoma, Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P43146","url":"https://www.uniprot.org/uniprotkb/P43146/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DCC","url":"https://civicdb.org/features/1396","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"IntOGen DCC","url":"https://www.intogen.org/search?gene=DCC","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas DCC tissue","url":"https://www.proteinatlas.org/ENSG00000187323-DCC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187323 associations","url":"https://platform.opentargets.org/target/ENSG00000187323/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2701","ensembl":"ENSG00000187323","uniprot":"P43146","entrez":"1630","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fearon E.R. et al, Science, 1990, \"Identification of a chromosome 18q gene that is altered in colorectal cancers\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2294591/","biology":"Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signalling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumour suppressor gene. Location: Membrane (UniProt). Locus 18q21.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"dclk1","kind":"target","name":"DCLK1","aka":["doublecortin like kinase 1","DCAMKL1","DCLK"],"tldr":"DCLK1 is a kinase gene from neuronal development that also marks a rare stem-like cell population in the gut, studied as a colorectal and pancreatic cancer stem-cell marker.","summary":"UniProt describes DCLK1 as a probable kinase of neuronal migration expressed in the adult brain and, at lower levels, in the gut and other organs. In cancer research it is followed as a marker of tuft-like intestinal stem cells implicated in colorectal and pancreatic tumour initiation, and its transcript and protein levels track each other closely in proteogenomic data.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:2700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2700"},{"label":"UniProt O15075","url":"https://www.uniprot.org/uniprotkb/O15075/entry"}],"tags":["cansim-terms"],"related":[],"cancers":["colorectal","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["co-amplification","cancer-ai-vocabulary","mrna-protein-concordance"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"DCLK1","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2700","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt O15075","url":"https://www.uniprot.org/uniprotkb/O15075/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:2700","ensembl":"ENSG00000133083","uniprot":"O15075","entrez":"9201","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9205841/","biology":"Probable kinase in a calcium-signalling pathway controlling neuronal migration; in adults expressed in brain and detectable in heart, liver, spleen, prostate, ovary, small intestine and colon (UniProt O15075).","whereFound":["Locus 13q13.3 (HGNC)."],"targetClass":"kinase","prevalence":[]},{"id":"dclre1b","kind":"target","name":"DCLRE1B","aka":["DNA cross-link repair 1B","5' exonuclease Apollo","SNM1B","FLJ12810","FLJ13998","APOLLO"],"tldr":"DCLRE1B (5' exonuclease Apollo) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that activates the DNA repair pathways.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.83, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17641","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17641"},{"label":"UniProt Q9H816","url":"https://www.uniprot.org/uniprotkb/Q9H816/entry"},{"label":"NCBI Gene 64858","url":"https://www.ncbi.nlm.nih.gov/gene/64858"},{"label":"Ensembl ENSG00000118655","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118655"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DCLRE1B","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17641","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17641","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H816","url":"https://www.uniprot.org/uniprotkb/Q9H816/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000118655","url":"https://platform.opentargets.org/target/ENSG00000118655/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17641","ensembl":"ENSG00000118655","uniprot":"Q9H816","entrez":"64858","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"5'-3' exonuclease that plays a central role in telomere maintenance and protection during S-phase. Participates in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated repair, thereby ensuring that telomeres do not fuse. Plays a key role in telomeric loop (T loop) formation by being recruited by TERF2 at the leading end telomeres and by processing leading-end telomeres immediately after their replication via its exonuclease activity: generates 3' single-stranded overhang at the leading end telomeres avoiding blunt leading-end telomeres that are vulnerable to end-joining reactions and expose the telomere end in a manner that activates the DNA repair pathways. Together with TERF2, required to protect telomeres from replicative damage during replication by controlling the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Also involved in response to DNA damage: plays a role in response to DNA interstrand cross-links (ICLs) by facilitating double-strand break formation. In case of spindle stress, involved in prophase checkpoint. Location: Chromosome, telomere; Nucleus; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 1p13.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"dctn1","kind":"target","name":"DCTN1","aka":["dynactin subunit 1","Dynactin subunit 1"],"tldr":"DCTN1 (Dynactin subunit 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.25, affected pathway 0.89, genetic association 0.00, somatic mutation 0.50).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2711","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2711"},{"label":"UniProt Q14203","url":"https://www.uniprot.org/uniprotkb/Q14203/entry"},{"label":"NCBI Gene 1639","url":"https://www.ncbi.nlm.nih.gov/gene/1639"},{"label":"Ensembl ENSG00000204843","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204843"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DCTN1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2711","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2711","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14203","url":"https://www.uniprot.org/uniprotkb/Q14203/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000204843","url":"https://platform.opentargets.org/target/ENSG00000204843/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2711","ensembl":"ENSG00000204843","uniprot":"Q14203","entrez":"1639","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Holzbaur E.L.F. et al, Genomics, 1996, \"Localization of the DCTN1 gene encoding p150Glued to human chromosome 2p13 by fluorescence in situ hybridization\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8838327/","biology":"Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. Plays a key role in dynein-mediated retrograde transport of vesicles and organelles along microtubules by recruiting and tethering dynein to microtubules. Binds to both dynein and microtubules providing a link between specific cargos, microtubules and dynein. Essential for targeting dynein to microtubule plus ends, recruiting dynein to membranous cargos and enhancing dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Can also act as a brake to slow the dynein motor during motility along the microtubule. Can regulate microtubule stability by promoting microtubule formation, nucleation and polymerisation and by inhibiting microtubule catastrophe in neurons. Location: Cytoplasm; Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole (UniProt). Locus 2p13.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ddb1","kind":"target","name":"DDB1","aka":["damage specific DNA binding protein 1","DNA damage-binding protein 1"],"tldr":"DDB1 (DNA damage-binding protein 1) is a gene. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma, Myelodysplastic syndromes / neoplasms and 2 more.","summary":"Involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively. Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognises UV-induced DNA damage and recruits proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.89, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2717","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2717"},{"label":"UniProt Q16531","url":"https://www.uniprot.org/uniprotkb/Q16531/entry"},{"label":"NCBI Gene 1642","url":"https://www.ncbi.nlm.nih.gov/gene/1642"},{"label":"Ensembl ENSG00000167986","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167986"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mds","follicular-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDB1","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:2717","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2717","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16531","url":"https://www.uniprot.org/uniprotkb/Q16531/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000167986","url":"https://platform.opentargets.org/target/ENSG00000167986/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.59, myelodysplastic syndrome 0.56, follicular lymphoma 0.57, mantle cell lymphoma 0.55 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists DDB1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA DDB1: RNA low tissue specificity; high antibody staining in 16 normal tissues; highest cancer staining melanoma (4 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma, Myeloid neoplasms); Open Targets associates it with 4 specific cancer types at or above 0.5 (plasma cell myeloma, follicular lymphoma, myelodysplastic syndrome, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DDB1 tissue","url":"https://www.proteinatlas.org/ENSG00000167986-DDB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167986 associations","url":"https://platform.opentargets.org/target/ENSG00000167986/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2717","ensembl":"ENSG00000167986","uniprot":"Q16531","entrez":"1642","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dualan et al, Genomics, 1995, \"Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8530102/","biology":"Involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively. Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognises UV-induced DNA damage and recruits proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins. The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1. DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. Location: Cytoplasm; Nucleus (UniProt). Locus 11q12.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.56 with myelodysplastic syndrome (MONDO_0018881)","Follicular lymphoma: Open Targets association 0.57 with follicular lymphoma (MONDO_0018906)","Mantle cell lymphoma: Open Targets association 0.55 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"ddb2","kind":"target","name":"DDB2","aka":["damage specific DNA binding protein 2","DNA damage-binding protein 2","UV-DDB2","FLJ34321"],"tldr":"DDB2 (DNA damage-binding protein 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Skin cancer and Acute myeloid leukaemia.","summary":"Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively. Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognises UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.06, somatic mutation 0.84). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2718","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2718"},{"label":"UniProt Q92466","url":"https://www.uniprot.org/uniprotkb/Q92466/entry"},{"label":"NCBI Gene 1643","url":"https://www.ncbi.nlm.nih.gov/gene/1643"},{"label":"Ensembl ENSG00000134574","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134574"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","skin-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt keyword \"DNA repair\". Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDB2","role":["oncogene-driver","tumour-suppressor","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2718","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2718","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92466","url":"https://www.uniprot.org/uniprotkb/Q92466/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000134574","url":"https://platform.opentargets.org/target/ENSG00000134574/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: skin cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen DDB2","url":"https://www.intogen.org/search?gene=DDB2","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2718","ensembl":"ENSG00000134574","uniprot":"Q92466","entrez":"1643","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dualan et al, Genomics, 1995, \"Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8530102/","biology":"Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively. Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognises UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also functions as the substrate recognition module for the DCX (DDB2-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB2-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1). The DDB2-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair. Location: Nucleus; Chromosome (UniProt). Locus 11p11.2 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ddit3","kind":"target","name":"DDIT3","aka":["DNA damage inducible transcript 3","DDIT3 upstream open reading frame protein","CHOP10","GADD153"],"tldr":"DDIT3 (DDIT3 upstream open reading frame protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Sarcomas and Liposarcoma.","summary":"Product of the upstream open reading frame (uORF) of DDIT3/CHOP that is specifically produced in absence of stress, thereby preventing translation of downstream stress effector DDIT3/CHOP.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.97, genetic literature 0.30).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2726","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2726"},{"label":"UniProt P0DPQ6","url":"https://www.uniprot.org/uniprotkb/P0DPQ6/entry"},{"label":"NCBI Gene 1649","url":"https://www.ncbi.nlm.nih.gov/gene/1649"},{"label":"Ensembl ENSG00000175197","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175197"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","liposarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDIT3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2726","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2726","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0DPQ6","url":"https://www.uniprot.org/uniprotkb/P0DPQ6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000175197","url":"https://platform.opentargets.org/target/ENSG00000175197/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: sarcoma 0.63, liposarcoma 0.60 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2726","ensembl":"ENSG00000175197","uniprot":"P0DPQ6","entrez":"1649","firstDescribed":2006,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Scherer S.E. et al, Nature, 2006, \"The finished DNA sequence of human chromosome 12\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/16541075/","biology":"Product of the upstream open reading frame (uORF) of DDIT3/CHOP that is specifically produced in absence of stress, thereby preventing translation of downstream stress effector DDIT3/CHOP. Location: Nucleus; Cytoplasm (UniProt). Locus 12q13.3 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.63 with sarcoma (MONDO_0005089)","Liposarcoma: Open Targets association 0.60 with liposarcoma (MONDO_0005060)"],"targetClass":"other","prevalence":[]},{"id":"ddr2","kind":"target","name":"DDR2 receptor kinase","aka":[],"tldr":"DDR2 is a receptor that senses collagen; mutations in it occur in a small share of squamous lung cancers, and dasatinib inhibits it.","summary":"Discoidin domain receptor 2 is a receptor tyrosine kinase activated by fibrillar collagen rather than by a growth factor. DDR2 mutations were found in around 4 percent of squamous non-small cell lung cancers, and the leukaemia drug dasatinib inhibits DDR2 strongly, which prompted trials in DDR2-mutant lung cancer; responses were seen but the approach did not reach approval.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Discoidin_domain-containing_receptor_2","links":[{"label":"UniProt Q16832: DDR2","url":"https://www.uniprot.org/uniprotkb/Q16832/entry"},{"label":"HGNC:2731 DDR2","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2731"},{"label":"ChEMBL target CHEMBL5122","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL5122"}],"tags":[],"related":[],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["dasatinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"DDR2","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Dasatinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA DDR2: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (colorectal cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DDR2 tissue","url":"https://www.proteinatlas.org/ENSG00000162733-DDR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162733 associations","url":"https://platform.opentargets.org/target/ENSG00000162733/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2731","ensembl":"ENSG00000162733","uniprot":"Q16832","entrez":"4921","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Karn et al, Oncogene, 1993, \"Structure, expression and chromosomal mapping of TKT from man and mouse: a new subclass of receptor tyrosine kinases with a factor VIII-like domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8247548/","biology":"Collagen binding through the discoidin domain triggers slow, sustained kinase activation, regulating cell adhesion, migration and matrix remodelling.","whereFound":["Squamous non-small cell lung cancer (a small mutated subset)","Fibroblasts and stromal cells"],"targetClass":"kinase","prevalence":[{"cancerId":"nsclc","pct":3.8,"measure":"DDR2 kinase mutation, Sanger sequencing of squamous cell lung cancers and cell lines","source":"https://doi.org/10.1158/2159-8274.CD-11-0005","note":"Squamous histology only; mutant cell lines and one patient responded to dasatinib"}]},{"id":"ddx10","kind":"target","name":"DDX10","aka":["DEAD-box helicase 10","Probable ATP-dependent RNA helicase DDX10","HRH-J8","Dbp4"],"tldr":"DDX10 (Probable ATP-dependent RNA helicase DDX10) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer and Skin cancer.","summary":"Putative ATP-dependent RNA helicase that plays various role in innate immunity or inflammation. Plays a role in the enhancement of AIM2-induced inflammasome activation by interacting with AIM2 and stabilising its protein level. Negatively regulates viral infection by promoting interferon beta production and interferon stimulated genes/ISGs expression.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.87, animal model 0.31, genetic association 0.04, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2735","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2735"},{"label":"UniProt Q13206","url":"https://www.uniprot.org/uniprotkb/Q13206/entry"},{"label":"NCBI Gene 1662","url":"https://www.ncbi.nlm.nih.gov/gene/1662"},{"label":"Ensembl ENSG00000178105","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178105"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDX10","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2735","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2735","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13206","url":"https://www.uniprot.org/uniprotkb/Q13206/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000178105","url":"https://platform.opentargets.org/target/ENSG00000178105/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: skin cancer 0.51, breast cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2735","ensembl":"ENSG00000178105","uniprot":"Q13206","entrez":"1662","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Savitsky et al, Genomics, 1996, \"A human gene (DDX10) encoding a putative DEAD-box RNA helicase at 11q22-q23\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8660968/","biology":"Putative ATP-dependent RNA helicase that plays various role in innate immunity or inflammation. Plays a role in the enhancement of AIM2-induced inflammasome activation by interacting with AIM2 and stabilising its protein level. Negatively regulates viral infection by promoting interferon beta production and interferon stimulated genes/ISGs expression. Location: Cytoplasm; Nucleus; Nucleus, nucleolus (UniProt). Locus 11q22.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)"],"targetClass":"enzyme","prevalence":[]},{"id":"ddx3x","kind":"target","name":"DDX3X","aka":["DEAD-box helicase 3 X-linked","ATP-dependent RNA helicase DDX3X","HLP2","DDX14","CAP-Rf","DDX3"],"tldr":"DDX3X (ATP-dependent RNA helicase DDX3X) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 5 more.","summary":"Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.28, genetic association 0.00, somatic mutation 0.85). IntOGen calls it a driver in 23 cohorts (14 activating, 9 loss-of-function), covering Burkitt Lymphoma, Invasive Breast Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Head and Neck Squamous Cell Carcinoma, Lymphoid Neoplasm and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2745","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2745"},{"label":"UniProt O00571","url":"https://www.uniprot.org/uniprotkb/O00571/entry"},{"label":"NCBI Gene 1654","url":"https://www.ncbi.nlm.nih.gov/gene/1654"},{"label":"Ensembl ENSG00000215301","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000215301"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","breast-cancer","mesothelioma","head-and-neck","skin-cancer","lung-cancer","medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 14 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 9 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDX3X","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2745","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2745","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00571","url":"https://www.uniprot.org/uniprotkb/O00571/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DDX3X","url":"https://civicdb.org/features/1417","note":"2 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000215301","url":"https://platform.opentargets.org/target/ENSG00000215301/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: melanoma 0.64, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.50, non-Hodgkin lymphoma 0.73, skin cancer 0.55, medulloblastoma 0.69 (GraphQL API, CC0)"},{"label":"IntOGen DDX3X","url":"https://www.intogen.org/search?gene=DDX3X","note":"driver in 23 cohorts (Act 14, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA DDX3X: RNA low tissue specificity; high antibody staining in 19 normal tissues; highest cancer staining glioma (6 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Breast cancer (all types), Mesothelioma, Head and neck squamous cell carcinoma, Skin cancer (all types), Lung cancer (all types) and more); Open Targets associates it with 2 specific cancer types at or above 0.5 (medulloblastoma, Burkitt lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O00571","url":"https://www.uniprot.org/uniprotkb/O00571/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DDX3X","url":"https://civicdb.org/features/1417","note":"2 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen DDX3X","url":"https://www.intogen.org/search?gene=DDX3X","note":"driver in 23 cohorts (Act 14, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas DDX3X tissue","url":"https://www.proteinatlas.org/ENSG00000215301-DDX3X/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000215301 associations","url":"https://platform.opentargets.org/target/ENSG00000215301/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2745","ensembl":"ENSG00000215301","uniprot":"O00571","entrez":"1654","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chung et al, Korean J. Biochem, 1995, \"Identification of a human homolog of a putative RNA helicase gene (mDEAD3) expressed in mouse erythroid cells\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/O00571/entry","biology":"Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs. Binds RNA G-quadruplex (rG4s) structures, including those located in the 5'-UTR of NRAS mRNA. Involved in many cellular processes, which do not necessarily require its ATPase/helicase catalytic activities. Involved in transcription regulation. Location: Cell membrane; Nucleus; Cytoplasm; Cytoplasm, Stress granule (UniProt). Locus Xp11.4 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.73 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 3 cohorts (LNM, MLYM, NHL)","Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Breast cancer: IntOGen driver in 2 cohorts (BRCA)","Mesothelioma: IntOGen driver in 2 cohorts (PLMESO)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},{"id":"ddx41","kind":"target","name":"DDX41","aka":["DEAD-box helicase 41","Probable ATP-dependent RNA helicase DDX41","MGC8828"],"tldr":"DDX41 (Probable ATP-dependent RNA helicase DDX41) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Myelodysplastic syndromes / neoplasms and 1 more.","summary":"Multifunctional protein that participates in many aspects of cellular RNA metabolism. Plays pivotal roles in innate immune sensing and haematopoietic homeostasis. Recognises foreign or self-nucleic acids generated during microbial infection, thereby initiating anti-pathogen responses.\n\nCIViC holds 11 clinical evidence items and 1 assertion across 4 variants. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.94, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18674","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18674"},{"label":"UniProt Q9UJV9","url":"https://www.uniprot.org/uniprotkb/Q9UJV9/entry"},{"label":"NCBI Gene 51428","url":"https://www.ncbi.nlm.nih.gov/gene/51428"},{"label":"Ensembl ENSG00000183258","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183258"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","mds","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 11 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myeloid Neoplasm; Haematologic Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDX41","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18674","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18674","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UJV9","url":"https://www.uniprot.org/uniprotkb/Q9UJV9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DDX41","url":"https://civicdb.org/features/11932","note":"11 evidence items, 1 assertions, 4 variants; diseases: Myeloid Neoplasm, Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Haematologic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000183258","url":"https://platform.opentargets.org/target/ENSG00000183258/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.72, myelodysplastic syndrome 0.69, myeloproliferative neoplasm 0.77, leukaemia 0.77 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists DDX41 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA DDX41: RNA low tissue specificity; high antibody staining in 19 normal tissues; highest cancer staining glioma (9 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 5 specific cancer types at or above 0.5 (DDX41-related hematologic malignancy predisposition syndrome, myelodysplastic syndrome, acute myeloid leukemia, myelodysplastic syndrome with excess blasts, myeloid leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DDX41 tissue","url":"https://www.proteinatlas.org/ENSG00000183258-DDX41/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183258 associations","url":"https://platform.opentargets.org/target/ENSG00000183258/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18674","ensembl":"ENSG00000183258","uniprot":"Q9UJV9","entrez":"51428","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Irion et al, Curr. Biol, 1999, \"Developmental and cell biological functions of the Drosophila DEAD-box protein abstrakt\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10607561/","biology":"Multifunctional protein that participates in many aspects of cellular RNA metabolism. Plays pivotal roles in innate immune sensing and haematopoietic homeostasis. Recognises foreign or self-nucleic acids generated during microbial infection, thereby initiating anti-pathogen responses. Mechanistically, phosphorylation by BTK allows binding to dsDNA leading to interaction with STING1. Modulates the homeostasis of dsDNA through its ATP-dependent DNA-unwinding activity and ATP-independent strand-annealing activity. In turn, induces STING1-mediated type I interferon and cytokine responses to DNA and DNA viruses. Location: Nucleus; Cytoplasm (UniProt). Locus 5q35.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.77 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.77 with myeloproliferative neoplasm (MONDO_0020076)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.69 with myelodysplastic syndrome (MONDO_0018881); CIViC evidence names this disease","Acute myeloid leukaemia: Open Targets association 0.72 with acute myeloid leukaemia (MONDO_0018874); CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"ddx43","kind":"target","name":"DDX43","aka":["DEAD-box helicase 43","Probable ATP-dependent RNA helicase DDX43","DKFZp434H2114","CT13"],"tldr":"DDX43 (Probable ATP-dependent RNA helicase DDX43) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Uveal melanoma.","summary":"UniProt has no function text for Q9NXZ2; HGNC names it \"DEAD-box helicase 43\".\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Trametinib, Mirdametinib and Selumetinib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18677","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18677"},{"label":"UniProt Q9NXZ2","url":"https://www.uniprot.org/uniprotkb/Q9NXZ2/entry"},{"label":"NCBI Gene 55510","url":"https://www.ncbi.nlm.nih.gov/gene/55510"},{"label":"Ensembl ENSG00000080007","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000080007"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["uveal-melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDX43","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18677","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18677","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NXZ2","url":"https://www.uniprot.org/uniprotkb/Q9NXZ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DDX43","url":"https://civicdb.org/features/13005","note":"1 evidence items, 0 assertions, 1 variants; diseases: Uveal Melanoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA DDX43: RNA group enriched (placenta 5 nTPM, testis 18 nTPM); high antibody staining in 1 normal tissue; highest cancer staining testis cancer (2 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas DDX43 tissue","url":"https://www.proteinatlas.org/ENSG00000080007-DDX43/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000080007 associations","url":"https://platform.opentargets.org/target/ENSG00000080007/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18677","ensembl":"ENSG00000080007","uniprot":"Q9NXZ2","entrez":"55510","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Martelange V.M.F. et al, Cancer Res, 2000, \"Identification on a human sarcoma of two new genes with tumor-specific expression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10919659/","biology":"UniProt has no function text for Q9NXZ2; HGNC names it \"DEAD-box helicase 43\". Locus 6q13 (HGNC).","whereFound":["Uveal melanoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"ddx5","kind":"target","name":"DDX5","aka":["DEAD-box helicase 5","Probable ATP-dependent RNA helicase DDX5","p68","HLR1","G17P1"],"tldr":"DDX5 (Probable ATP-dependent RNA helicase DDX5) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer and Skin cancer.","summary":"Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2746","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2746"},{"label":"UniProt P17844","url":"https://www.uniprot.org/uniprotkb/P17844/entry"},{"label":"NCBI Gene 1655","url":"https://www.ncbi.nlm.nih.gov/gene/1655"},{"label":"Ensembl ENSG00000108654","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108654"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDX5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2746","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2746","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P17844","url":"https://www.uniprot.org/uniprotkb/P17844/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108654","url":"https://platform.opentargets.org/target/ENSG00000108654/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: colorectal cancer 0.53, skin cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2746","ensembl":"ENSG00000108654","uniprot":"P17844","entrez":"1655","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ford M.J. et al, Nature, 1988, \"Nuclear protein with sequence homology to translation initiation factor eIF-4A\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2451786/","biology":"Involved in the alternative regulation of pre-mRNA splicing; its RNA helicase activity is necessary for increasing tau exon 10 inclusion and occurs in a RBM4-dependent manner. Binds to the tau pre-mRNA in the stem-loop region downstream of exon 10. The rate of ATP hydrolysis is highly stimulated by single-stranded RNA. Involved in transcriptional regulation; the function is independent of the RNA helicase activity. Transcriptional coactivator for androgen receptor AR but probably not ESR1. Synergises with DDX17 and SRA1 RNA to activate MYOD1 transcriptional activity and involved in skeletal muscle differentiation. Location: Nucleus; Nucleus, nucleolus; Nucleus speckle; Cytoplasm (UniProt). Locus 17q23.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},{"id":"ddx6","kind":"target","name":"DDX6","aka":["DEAD-box helicase 6","Probable ATP-dependent RNA helicase DDX6","Rck/p54","HLR2"],"tldr":"DDX6 (Probable ATP-dependent RNA helicase DDX6) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas, Lung cancer, Leiomyosarcoma and 1 more.","summary":"Essential for the formation of P-bodies, cytosolic membrane-less ribonucleoprotein granules involved in RNA metabolism through the coordinated storage of mRNAs encoding regulatory functions. Plays a role in P-bodies to coordinate the storage of translationally inactive mRNAs in the cytoplasm and prevent their degradation. In the process of mRNA degradation, plays a role in mRNA decapping.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.10, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Leiomyosarcoma, Medulloblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2747","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2747"},{"label":"UniProt P26196","url":"https://www.uniprot.org/uniprotkb/P26196/entry"},{"label":"NCBI Gene 1656","url":"https://www.ncbi.nlm.nih.gov/gene/1656"},{"label":"Ensembl ENSG00000110367","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110367"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["sarcoma","lung-cancer","leiomyosarcoma","medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDX6","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2747","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2747","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P26196","url":"https://www.uniprot.org/uniprotkb/P26196/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000110367","url":"https://platform.opentargets.org/target/ENSG00000110367/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen DDX6","url":"https://www.intogen.org/search?gene=DDX6","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2747","ensembl":"ENSG00000110367","uniprot":"P26196","entrez":"1656","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lu et al, Nucleic Acids Res, 1992, \"Cloning, expression and localization of an RNA helicase gene from a human lymphoid cell line with chromosomal breakpoint 11q23.3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1579499/","biology":"Essential for the formation of P-bodies, cytosolic membrane-less ribonucleoprotein granules involved in RNA metabolism through the coordinated storage of mRNAs encoding regulatory functions. Plays a role in P-bodies to coordinate the storage of translationally inactive mRNAs in the cytoplasm and prevent their degradation. In the process of mRNA degradation, plays a role in mRNA decapping. Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts. Location: Cytoplasm, P-body; Cytoplasm; Nucleus; Cytoplasm, Cytoplasmic ribonucleoprotein granule (UniProt). Locus 11q23.3 (HGNC).","whereFound":["Sarcomas: IntOGen driver in 1 cohort (LMS)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Leiomyosarcoma: IntOGen driver in 1 cohort (LMS)","Medulloblastoma: IntOGen driver in 1 cohort (MBL)"],"targetClass":"enzyme","prevalence":[]},{"id":"defa1","kind":"target","name":"DEFA1","aka":["defensin alpha 1","Neutrophil defensin 1","HNP-1","DEF1","DEFA2"],"tldr":"DEFA1 (Neutrophil defensin 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Effector molecule of the innate immune system that acts via antibiotic-like properties against a broad array of infectious agents including bacteria, fungi, and viruses or by promoting the activation and maturation of some APCs. Interacts with the essential precursor of cell wall synthesis lipid II to inhibit bacterial cell wall synthesis. Inhibits adenovirus infection via inhibition of viral disassembly at the vertex region, thereby restricting the release of internal capsid protein pVI, which is required for endosomal membrane penetration during cell entry.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Docetaxel.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2761","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2761"},{"label":"UniProt P59665","url":"https://www.uniprot.org/uniprotkb/P59665/entry"},{"label":"NCBI Gene 1667","url":"https://www.ncbi.nlm.nih.gov/gene/1667"},{"label":"Ensembl ENSG00000206047","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000206047"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DEFA1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2761","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2761","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P59665","url":"https://www.uniprot.org/uniprotkb/P59665/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DEFA1","url":"https://civicdb.org/features/1428","note":"1 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA DEFA1: RNA tissue enriched (bone marrow 59,494 nTPM); blood lineage lineage enriched (granulocytes 2,666 nTPM); high antibody staining in 2 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas DEFA1 tissue","url":"https://www.proteinatlas.org/ENSG00000206047-DEFA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000206047 associations","url":"https://platform.opentargets.org/target/ENSG00000206047/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2761","ensembl":"ENSG00000206047","uniprot":"P59665","entrez":"1667","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Selsted M.E. et al, J. Clin. Invest, 1985, \"Primary structures of three human neutrophil defensins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/4056036/","biology":"Effector molecule of the innate immune system that acts via antibiotic-like properties against a broad array of infectious agents including bacteria, fungi, and viruses or by promoting the activation and maturation of some APCs. Interacts with the essential precursor of cell wall synthesis lipid II to inhibit bacterial cell wall synthesis. Inhibits adenovirus infection via inhibition of viral disassembly at the vertex region, thereby restricting the release of internal capsid protein pVI, which is required for endosomal membrane penetration during cell entry. In addition, interaction with adenovirus capsid leads to the redirection of viral particles to TLR4 thereby promoting a NLRP3-mediated inflammasome response and interleukin 1-beta (IL-1beta) release. Induces the production of proinflammatory cytokines including type I interferon (IFN) in plasmacytoid dendritic cells (pDCs) by triggering the degradation of NFKBIA and nuclear translocation of IRF1, both of which are required for activation of pDCs. Location: Secreted (UniProt). Locus 8p23.1 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"dek","kind":"target","name":"DEK","aka":["DEK proto-oncogene","D6S231E"],"tldr":"DEK (DEK proto-oncogene) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Breast cancer and Gastric & gastro-oesophageal junction cancer.","summary":"Involved in chromatin organisation.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.00, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768"},{"label":"UniProt P35659","url":"https://www.uniprot.org/uniprotkb/P35659/entry"},{"label":"NCBI Gene 7913","url":"https://www.ncbi.nlm.nih.gov/gene/7913"},{"label":"Ensembl ENSG00000124795","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124795"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DEK","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2768","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35659","url":"https://www.uniprot.org/uniprotkb/P35659/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000124795","url":"https://platform.opentargets.org/target/ENSG00000124795/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: gastric cancer 0.51, breast cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2768","ensembl":"ENSG00000124795","uniprot":"P35659","entrez":"7913","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Von Lindern et al, Mol. Cell. Biol, 1992, \"The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1549122/","biology":"Involved in chromatin organisation. Location: Nucleus (UniProt). Locus 6p22.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)"],"targetClass":"other","prevalence":[]},{"id":"dgcr8","kind":"target","name":"DGCR8","aka":["DGCR8 microprocessor complex subunit","Microprocessor complex subunit DGCR8","DGCRK6","Gy1","pasha","C22orf12"],"tldr":"DGCR8 (Microprocessor complex subunit DGCR8) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma, Thyroid cancer, Diffuse large B-cell lymphoma and 3 more.","summary":"Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs.\n\nIntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Pleural Mesothelioma, Well-Differentiated Thyroid Cancer, Wilms' Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2847","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2847"},{"label":"UniProt Q8WYQ5","url":"https://www.uniprot.org/uniprotkb/Q8WYQ5/entry"},{"label":"NCBI Gene 54487","url":"https://www.ncbi.nlm.nih.gov/gene/54487"},{"label":"Ensembl ENSG00000128191","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128191"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["mesothelioma","thyroid","dlbcl","pleural-mesothelioma","papillary-thyroid-cancer","wilms-tumor"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DGCR8","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2847","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2847","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WYQ5","url":"https://www.uniprot.org/uniprotkb/Q8WYQ5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen DGCR8","url":"https://www.intogen.org/search?gene=DGCR8","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2847","ensembl":"ENSG00000128191","uniprot":"Q8WYQ5","entrez":"54487","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dunham et al, Nature, 1999, \"The DNA sequence of human chromosome 22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10591208/","biology":"Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA-ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs. The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding. Specifically recognises and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing. Location: Nucleus; Nucleus, nucleolus (UniProt). Locus 22q11.21 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Papillary thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Wilms tumour: IntOGen driver in 1 cohort (WT)"],"targetClass":"oncogene","prevalence":[]},{"id":"dhx9","kind":"target","name":"DHX9","aka":["DExH-box helicase 9","ATP-dependent RNA helicase A","DDX9"],"tldr":"DHX9 (ATP-dependent RNA helicase A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma.","summary":"Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing. Requires a 3'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolysing of any of the four ribo- or deoxyribo-nucleotide triphosphates (NTPs). Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA and RNA, DNA:RNA hybrids, DNA and RNA forks composed of either partially complementary DNA duplexes or DNA:RNA hybrids, respectively, and also DNA and RNA displacement loops (D- and R-loops), triplex-helical DNA (H-DNA) structure and DNA and RNA-based G-quadruplexes.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2750","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2750"},{"label":"UniProt Q08211","url":"https://www.uniprot.org/uniprotkb/Q08211/entry"},{"label":"NCBI Gene 1660","url":"https://www.ncbi.nlm.nih.gov/gene/1660"},{"label":"Ensembl ENSG00000135829","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135829"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DHX9","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2750","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2750","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q08211","url":"https://www.uniprot.org/uniprotkb/Q08211/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen DHX9","url":"https://www.intogen.org/search?gene=DHX9","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2750","ensembl":"ENSG00000135829","uniprot":"Q08211","entrez":"1660","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee C.-G. et al, J. Biol. Chem, 1993, \"Human RNA helicase A is homologous to the maleless protein of Drosophila\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8344961/","biology":"Multifunctional ATP-dependent nucleic acid helicase that unwinds DNA and RNA in a 3' to 5' direction and that plays important roles in many processes, such as DNA replication, transcriptional activation, post-transcriptional RNA regulation, mRNA translation and RNA-mediated gene silencing. Requires a 3'-single-stranded tail as entry site for acid nuclei unwinding activities as well as the binding and hydrolysing of any of the four ribo- or deoxyribo-nucleotide triphosphates (NTPs). Unwinds numerous nucleic acid substrates such as double-stranded (ds) DNA and RNA, DNA:RNA hybrids, DNA and RNA forks composed of either partially complementary DNA duplexes or DNA:RNA hybrids, respectively, and also DNA and RNA displacement loops (D- and R-loops), triplex-helical DNA (H-DNA) structure and DNA and RNA-based G-quadruplexes. Binds dsDNA, single-stranded DNA (ssDNA), dsRNA, ssRNA and poly(A)-containing RNA. Also binds to circular dsDNA or dsRNA of either linear and/or circular forms and stimulates the relaxation of supercoiled DNAs catalysed by topoisomerase TOP2A. Plays a role in DNA replication at origins of replication and cell cycle progression. Location: Nucleus; Nucleus, nucleoplasm; Nucleus, nucleolus; Cytoplasm (UniProt). Locus 1q25.3 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)"],"targetClass":"oncogene","prevalence":[]},{"id":"dicer1","kind":"target","name":"DICER1","aka":["dicer 1, ribonuclease III","Endoribonuclease Dicer","Dicer","KIAA0928","K12H4.8-LIKE","HERNA","MNG1"],"tldr":"DICER1 (Endoribonuclease Dicer) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Sarcomas, Brain and spinal cord tumours and 5 more.","summary":"Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation.\n\nCIViC holds 31 clinical evidence items and 3 assertions across 15 variants. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.80, somatic mutation 0.85, genetic literature 0.92). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Colorectal Adenocarcinoma, Cutaneous Squamous Cell Carcinoma, Melanoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17098"},{"label":"UniProt Q9UPY3","url":"https://www.uniprot.org/uniprotkb/Q9UPY3/entry"},{"label":"NCBI Gene 23405","url":"https://www.ncbi.nlm.nih.gov/gene/23405"},{"label":"Ensembl ENSG00000100697","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100697"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","sarcoma","brain-tumours","ovarian","skin-cancer","colorectal","endometrial","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 31 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Sertoli-Leydig Cell Tumour; Gynandroblastoma; Anaplastic Sarcoma Of The Kidney; Pleuropulmonary Blastoma; Glandular Pattern Ovarian Yolk Sac Tumour; Pituitary Blastoma; Granulosa Cell Tumour; Mature Teratoma Of The Ovary."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DICER1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17098","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UPY3","url":"https://www.uniprot.org/uniprotkb/Q9UPY3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DICER1","url":"https://civicdb.org/features/9533","note":"31 evidence items, 3 assertions, 15 variants; diseases: Sertoli-Leydig Cell Tumour, Gynandroblastoma, Anaplastic Sarcoma Of The Kidney, Pleuropulmonary Blastoma, Glandular Pattern Ovarian Yolk Sac Tumour and 3 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000100697","url":"https://platform.opentargets.org/target/ENSG00000100697/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.79, colorectal cancer 0.56, ovarian cancer 0.62, endometrial cancer 0.54, melanoma 0.62, sarcoma 0.79 (GraphQL API, CC0)"},{"label":"IntOGen DICER1","url":"https://www.intogen.org/search?gene=DICER1","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA DICER1: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining urothelial cancer (7 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Sarcomas (soft tissue, bone, GIST), Brain and spinal cord tumours (all types), Ovarian cancer, Skin cancer (all types), Colorectal cancer, Endometrial cancer); Open Targets associates it with 7 specific cancer types at or above 0.5 (pleuropulmonary blastoma, goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, rhabdomyosarcoma, embryonal, 2, embryonal rhabdomyosarcoma, pineoblastoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UPY3","url":"https://www.uniprot.org/uniprotkb/Q9UPY3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DICER1","url":"https://civicdb.org/features/9533","note":"31 evidence items, 3 assertions, 15 variants; diseases: Sertoli-Leydig Cell Tumour, Gynandroblastoma, Anaplastic Sarcoma Of The Kidney, Pleuropulmonary Blastoma, Glandular Pattern Ovarian Yolk Sac Tumour and 3 more (GraphQL API, CC0)"},{"label":"IntOGen DICER1","url":"https://www.intogen.org/search?gene=DICER1","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas DICER1 tissue","url":"https://www.proteinatlas.org/ENSG00000100697-DICER1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100697 associations","url":"https://platform.opentargets.org/target/ENSG00000100697/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17098","ensembl":"ENSG00000100697","uniprot":"Q9UPY3","entrez":"23405","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10231032/","biology":"Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes. Location: Cytoplasm; Cytoplasm, perinuclear region (UniProt). Locus 14q32.13 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.80 with lung cancer (MONDO_0008903)","Sarcomas: Open Targets association 0.79 with sarcoma (MONDO_0005089)","Brain and spinal cord tumours: Open Targets association 0.66 with brain cancer (MONDO_0001657)","Ovarian cancer: Open Targets association 0.62 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)"],"targetClass":"enzyme","prevalence":[]},{"id":"dhfr","kind":"target","name":"Dihydrofolate reductase (DHFR)","aka":[],"tldr":"The enzyme that recycles folate so cells can build DNA. Methotrexate blocks it, which is why folinic acid rescue after high-dose methotrexate matters.","summary":"Dihydrofolate reductase regenerates tetrahydrofolate, the carrier of one-carbon units needed for thymidylate and purine synthesis. Methotrexate is a tight-binding folate analogue that shuts the enzyme down and, as polyglutamates, also inhibits thymidylate synthase; leucovorin bypasses the block in normal tissues, allowing high-dose regimens in acute lymphoblastic leukaemia, osteosarcoma and primary CNS lymphoma. DHFR gene amplification is a classic mechanism of acquired methotrexate resistance, and pemetrexed inhibits DHFR among its folate targets.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Dihydrofolate_reductase","links":[{"label":"UniProt P00374: DHFR","url":"https://www.uniprot.org/uniprotkb/P00374/entry"}],"tags":[],"related":[],"cancers":["all-leukemia","osteosarcoma","primary-cns-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["methotrexate","pemetrexed"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"DHFR","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists DHFR among essential proteins and finds the RNA at low tissue specificity; the 4 medicines aimed at it (Methotrexate, Pemetrexed, Aminopterin and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA DHFR: RNA low tissue specificity; no normal tissue stained high; highest cancer staining prostate cancer (1 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Sarcomas (soft tissue, bone, GIST), Lymphoma); Open Targets associates it with 11 specific cancer types at or above 0.5 (non-small cell lung carcinoma, acute lymphoblastic leukemia, breast cancer, mesothelioma, malignant pleural mesothelioma, hereditary neoplastic syndrome and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DHFR tissue","url":"https://www.proteinatlas.org/ENSG00000228716-DHFR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000228716 associations","url":"https://platform.opentargets.org/target/ENSG00000228716/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2861","ensembl":"ENSG00000228716","uniprot":"P00374","entrez":"1719","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Masters J.N. et al, Gene, 1983, \"The nucleotide sequence of the cDNA coding for the human dihydrofolic acid reductase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6687716/","biology":"NADPH-dependent reductase maintaining the tetrahydrofolate pool; amplified in methotrexate-resistant cells.","whereFound":["Acute lymphoblastic leukaemia","Osteosarcoma","Primary CNS lymphoma"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (folate recycling); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"dis3","kind":"target","name":"DIS3","aka":["DIS3 exosome endoribonuclease and 3'-5' exoribonuclease","Exosome complex exonuclease RRP44","dis3p","RRP44","EXOSC11","KIAA1008"],"tldr":"DIS3 (Exosome complex exonuclease RRP44) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.","summary":"Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20604","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20604"},{"label":"UniProt Q9Y2L1","url":"https://www.uniprot.org/uniprotkb/Q9Y2L1/entry"},{"label":"NCBI Gene 22894","url":"https://www.ncbi.nlm.nih.gov/gene/22894"},{"label":"Ensembl ENSG00000083520","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083520"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DIS3","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:20604","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20604","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y2L1","url":"https://www.uniprot.org/uniprotkb/Q9Y2L1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen DIS3","url":"https://www.intogen.org/search?gene=DIS3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:20604","ensembl":"ENSG00000083520","uniprot":"Q9Y2L1","entrez":"22894","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shiomi et al, J. Biochem, 1998, \"Human dis3p, which binds to either GTP- or GDP-Ran, complements Saccharomyces cerevisiae dis3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9562621/","biology":"Putative catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. DIS3 has both 3'-5' exonuclease and endonuclease activities. Location: Cytoplasm; Nucleus, nucleolus; Nucleus, nucleoplasm; Nucleus (UniProt). Locus 13q21.33 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"oncogene","prevalence":[]},{"id":"dkk1","kind":"target","name":"DKK1","aka":["dickkopf Wnt signaling pathway inhibitor 1","Dickkopf-related protein 1","DKK-1"],"tldr":"DKK1 (Dickkopf-related protein 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Antagonises canonical Wnt signalling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalisation of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Irinotecan, Levoleucovorin, Oxaliplatin and Fluorouracil.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2891","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2891"},{"label":"UniProt O94907","url":"https://www.uniprot.org/uniprotkb/O94907/entry"},{"label":"NCBI Gene 22943","url":"https://www.ncbi.nlm.nih.gov/gene/22943"},{"label":"Ensembl ENSG00000107984","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107984"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DKK1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2891","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2891","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O94907","url":"https://www.uniprot.org/uniprotkb/O94907/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DKK1","url":"https://civicdb.org/features/9171","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA DKK1: RNA tissue enhanced (adipose tissue 21 nTPM, cervix 32 nTPM, placenta 46 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas DKK1 tissue","url":"https://www.proteinatlas.org/ENSG00000107984-DKK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000107984 associations","url":"https://platform.opentargets.org/target/ENSG00000107984/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2891","ensembl":"ENSG00000107984","uniprot":"O94907","entrez":"22943","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tate et al, 1998.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/O94907/entry","biology":"Antagonises canonical Wnt signalling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalisation of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero-posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease. Inhibits the pro-apoptotic function of KREMEN1 in a Wnt-independent manner, and has anti-apoptotic activity. Location: Secreted (UniProt). Locus 10q21.1 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"dlc1","kind":"target","name":"DLC1","aka":["DLC1 Rho GTPase activating protein","Rho GTPase-activating protein 7","ARHGAP7","STARD12","DLC-1","p122-RhoGAP"],"tldr":"DLC1 (Rho GTPase-activating protein 7) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signalling. This induces morphological changes and detachment through cytoskeletal reorganisation, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.63, somatic mutation 0.55).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2897","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2897"},{"label":"UniProt Q96QB1","url":"https://www.uniprot.org/uniprotkb/Q96QB1/entry"},{"label":"NCBI Gene 10395","url":"https://www.ncbi.nlm.nih.gov/gene/10395"},{"label":"Ensembl ENSG00000164741","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164741"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DLC1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2897","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2897","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96QB1","url":"https://www.uniprot.org/uniprotkb/Q96QB1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164741","url":"https://platform.opentargets.org/target/ENSG00000164741/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2897","ensembl":"ENSG00000164741","uniprot":"Q96QB1","entrez":"10395","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wei M.-H. et al, 1997, \"Cloning and molecular characterization of the human ortholog of the rat dual regulator p122RhoGAP\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96QB1/entry","biology":"Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signalling. This induces morphological changes and detachment through cytoskeletal reorganisation, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality. Required for growth factor-induced epithelial cell migration; in resting cells, interacts with TNS3 while PTEN interacts with the p85 regulatory subunit of the PI3K kinase complex but growth factor stimulation induces phosphorylation of TNS3 and PTEN, causing them to change their binding preference so that PTEN interacts with DLC1 and TNS3 interacts with p85. The PTEN-DLC1 complex translocates to the posterior of migrating cells to activate RHOA while the TNS3-p85 complex translocates to the leading edge of migrating cells to promote RAC1 activation. Location: Cytoplasm; Cell junction, focal adhesion; Membrane (UniProt). Locus 8p22 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"dll1","kind":"target","name":"DLL1","aka":["delta like canonical Notch ligand 1","Delta-like protein 1"],"tldr":"DLL1 (Delta-like protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner. Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signalling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain of Notch receptors (NICD). Is required for embryonic development and maintenance of adult stem cells in many different tissues and immune systeme; the DLL1-induced Notch signalling is mediated through an intercellular communication that regulates cell lineage, cell specification, cell patterning and morphogenesis through effects on differentiation and proliferation.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes affected pathway 0.79, literature 0.94, genetic association 0.18, somatic mutation 0.23, animal model 0.54).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2908","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2908"},{"label":"UniProt O00548","url":"https://www.uniprot.org/uniprotkb/O00548/entry"},{"label":"NCBI Gene 28514","url":"https://www.ncbi.nlm.nih.gov/gene/28514"},{"label":"Ensembl ENSG00000198719","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198719"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DLL1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2908","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2908","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00548","url":"https://www.uniprot.org/uniprotkb/O00548/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198719","url":"https://platform.opentargets.org/target/ENSG00000198719/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2908","ensembl":"ENSG00000198719","uniprot":"O00548","entrez":"28514","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gray G.E. et al, Am. J. Pathol, 1999, \"Human ligands of the Notch receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10079256/","biology":"Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner. Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signalling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain of Notch receptors (NICD). Is required for embryonic development and maintenance of adult stem cells in many different tissues and immune systeme; the DLL1-induced Notch signalling is mediated through an intercellular communication that regulates cell lineage, cell specification, cell patterning and morphogenesis through effects on differentiation and proliferation. Plays a role in brain development at different level, namely by regulating neuronal differentiation of neural precursor cells via cell-cell interaction, most likely through the lateral inhibitory system in an endogenous level dependent-manner. During neocortex development, Dll1-Notch signalling transmission is mediated by dynamic interactions between intermediate neurogenic progenitors and radial glia; the cell-cell interactions are mediated via dynamic and transient elongation processes, likely to reactivate/maintain Notch activity in neighboring progenitors, and coordinate progenitor cell division and differentiation across radial and zonal boundaries. During cerebellar development, regulates Bergmann glial monolayer formation and its morphological maturation through a Notch signalling pathway. Location: Apical cell membrane; Cell junction, adherens junction; Membrane raft (UniProt). Locus 6q27 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"dll3","kind":"target","name":"DLL3","aka":[],"tldr":"A protein that appears on the surface of small-cell lung cancer cells, now hit by a drug that pulls T cells onto them.","summary":"Delta-like ligand 3 is an inhibitory Notch ligand aberrantly surface-expressed in ~85% of small-cell lung cancer and neuroendocrine prostate cancer. The first DLL3 ADC (rovalpituzumab tesirine) failed; the T-cell engager tarlatamab (Imdelltra) succeeded, with a survival benefit in second-line SCLC (DeLLphi-304). Trispecifics and CAR-T follow.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/DLL3","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/DLL3"}],"tags":["t-cell-engager-target"],"related":["dll3-expression"],"cancers":["sclc","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["zl-1310","peluntamig","dji136"],"companies":["abdera-therapeutics","harpoon-therapeutics","ideaya-biosciences"],"institutions":[],"pathways":["notch","lineage-plasticity-neuroendocrine"],"terms":[],"trials":["nct07744256","nct07480213"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Small-cell lung cancer: DLL3 is an inhibitory NOTCH ligand switched on downstream of ASCL1, which is why its expression follows the subtype rather than being uniform: the ASCL1-dominant and NEUROD1-dominant tumours are DLL3 high, and the POU2F3 and double-negative tumours are DLL3 low (Baine 2020). A DLL3-directed medicine is therefore aimed at roughly the 86% of tumours that are neuroendocrine-high, not at the whole disease."],"symbol":"DLL3","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 5 cell-killing or cell-finding medicines (ZL-1310, DJI136, Obrixtamig and more) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA DLL3: RNA tissue enriched (brain 27 nTPM); blood lineage group enriched (B-cells 3 nTPM, T-cells 1 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Prostate cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (small cell lung carcinoma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DLL3 tissue","url":"https://www.proteinatlas.org/ENSG00000090932-DLL3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas DLL3 pathology","url":"https://www.proteinatlas.org/ENSG00000090932-DLL3/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000090932 associations","url":"https://platform.opentargets.org/target/ENSG00000090932/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2909","ensembl":"ENSG00000090932","uniprot":"Q9NYJ7","entrez":"10683","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bulman M.P. et al, Nat. Genet, 2000, \"Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10742114/","biology":"Normally intracellular Golgi protein; ASCL1-driven neuroendocrine lineage exposes it on the membrane.","whereFound":["Small-cell lung cancer","Neuroendocrine prostate cancer","Large-cell neuroendocrine carcinoma"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"sclc","pct":"80-85","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/DLL3"},{"cancerId":"prostate","pct":"70-80","measure":"Neuroendocrine prostate cancer only","source":"https://en.wikipedia.org/wiki/DLL3","note":"Rare in adenocarcinoma"}]},{"id":"dll4","kind":"target","name":"DLL4","aka":["delta like canonical Notch ligand 4","Delta-like protein 4"],"tldr":"DLL4 (Delta-like protein 4) is a protein on the cell surface. The public catalogues list it as a drug target and an antigen, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Involved in the Notch signalling pathway as Notch ligand. Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes clinical 0.18, affected pathway 0.91, literature 0.98, genetic association 0.00, animal model 0.26). In OnCo, 1 product record names it (Tovecimig).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2910","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2910"},{"label":"UniProt Q9NR61","url":"https://www.uniprot.org/uniprotkb/Q9NR61/entry"},{"label":"NCBI Gene 54567","url":"https://www.ncbi.nlm.nih.gov/gene/54567"},{"label":"Ensembl ENSG00000128917","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128917"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["tovecimig"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.18; a membrane or secreted protein (UniProt keywords) that 1 antibody-based OnCo product name. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DLL4","role":["drug-target","antigen"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2910","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2910","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NR61","url":"https://www.uniprot.org/uniprotkb/Q9NR61/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000128917","url":"https://platform.opentargets.org/target/ENSG00000128917/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"not-established","specificityNote":"Tumour-associated overexpression: 1 antibody (Tovecimig) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA DLL4: RNA low tissue specificity; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DLL4 tissue","url":"https://www.proteinatlas.org/ENSG00000128917-DLL4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas DLL4 pathology","url":"https://www.proteinatlas.org/ENSG00000128917-DLL4/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000128917 associations","url":"https://platform.opentargets.org/target/ENSG00000128917/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2910","ensembl":"ENSG00000128917","uniprot":"Q9NR61","entrez":"54567","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shutter J.R. et al, Genes Dev, 2000, \"Dll4, a novel Notch ligand expressed in arterial endothelium\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10837024/","biology":"Involved in the Notch signalling pathway as Notch ligand. Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types. During spinal cord neurogenesis, inhibits V2a interneuron fate. Location: Cell membrane (UniProt). Locus 15q15.1 (HGNC).","whereFound":[],"targetClass":"surface-antigen","prevalence":[]},{"id":"dlst","kind":"target","name":"DLST","aka":["dihydrolipoamide S-succinyltransferase","Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial","OGDC-E2","KGD2"],"tldr":"DLST (Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Neuroendocrine tumours.","summary":"Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyses the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2911","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2911"},{"label":"UniProt P36957","url":"https://www.uniprot.org/uniprotkb/P36957/entry"},{"label":"NCBI Gene 1743","url":"https://www.ncbi.nlm.nih.gov/gene/1743"},{"label":"Ensembl ENSG00000119689","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119689"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DLST","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2911","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2911","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P36957","url":"https://www.uniprot.org/uniprotkb/P36957/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000119689","url":"https://platform.opentargets.org/target/ENSG00000119689/associations","note":"per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.66 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2911","ensembl":"ENSG00000119689","uniprot":"P36957","entrez":"1743","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nakano et al, Biochim. Biophys. Acta, 1993, \"Human dihydrolipoamide succinyltransferase: cDNA cloning and localization on chromosome 14q24.2-q24.3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8268217/","biology":"Dihydrolipoamide succinyltransferase (E2) component of the 2-oxoglutarate dehydrogenase complex. The 2-oxoglutarate dehydrogenase complex catalyses the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion. A fraction of the 2-oxoglutarate dehydrogenase complex also localises in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A. Location: Mitochondrion matrix; Nucleus (UniProt). Locus 14q24.3 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.66 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"enzyme","prevalence":[]},{"id":"dnmt3a","kind":"target","name":"DNA methyltransferase 3A (DNMT3A)","aka":[],"tldr":"DNMT3A writes new methyl marks on DNA; it is one of the most commonly mutated genes in acute myeloid leukaemia and is trapped by the hypomethylating drugs azacitidine and decitabine.","summary":"DNA methyltransferase 3A establishes new (de novo) cytosine methylation. Loss-of-function mutations, most often at R882, are among the commonest events in acute myeloid leukaemia and in age-related clonal haematopoiesis. Azacitidine and decitabine are incorporated into DNA and covalently trap DNA methyltransferases, including DNMT3A, leading to their degradation and to demethylation.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/DNMT3A","links":[{"label":"UniProt Q9Y6K1: DNMT3A","url":"https://www.uniprot.org/uniprotkb/Q9Y6K1/entry"},{"label":"HGNC:2978 DNMT3A","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2978"},{"label":"ChEMBL target CHEMBL1992","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL1992"},{"label":"Sakata-Yanagimoto et al., Nat Genet 2014: somatic RHOA G17V in angioimmunoblastic T-cell lymphoma","url":"https://doi.org/10.1038/ng.2872"},{"label":"Palomero et al., Nat Genet 2014: recurrent mutations in epigenetic regulators, RHOA and FYN in peripheral T-cell lymphoma","url":"https://doi.org/10.1038/ng.2873"}],"tags":[],"related":["dnmt1"],"cancers":["aml","mds","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["azacitidine","decitabine"],"companies":[],"institutions":[],"pathways":["epigenetic-reprogramming","clonal-haematopoiesis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Lymphoma, RHOA G17V and the epigenetic mutations of T-follicular-helper lymphoma: A single substitution, G17V, in the small GTPase RHOA produces a protein that does not bind GTP and that blocks the wild-type protein as well. It is specific to the tumour cell, whereas the TET2 mutations that accompany it are found in non-tumour haematopoietic cells too, which places the TET2 lesion earlier, in the stem cell, and makes this lymphoma a disease that grows out of clonal haematopoiesis. Frequency: RHOA G17V in 68% of angioimmunoblastic T-cell lymphoma samples, with every G17V case also carrying a TET2 mutation (Sakata-Yanagimoto 2014); independently, in 22 of 35 angioimmunoblastic cases, 67%, and 8 of 44 peripheral T-cell lymphoma not otherwise specified, 18%, alongside recurrent TET2, DNMT3A and IDH2 mutations and less frequent FYN, ATM, B2M and CD58 lesions (Palomero 2014). What it changes about treatment: Not through an approved test. The hypomethylating agents are used in this disease on the strength of the TET2 and DNMT3A biology rather than on a mutation result, and azacitidine-containing regimens have shown activity in T-follicular-helper histology specifically."],"symbol":"DNMT3A","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Azacitidine, Decitabine) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA DNMT3A: RNA low tissue specificity; high antibody staining in 37 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 7 specific cancer types at or above 0.5 (acute myeloid leukemia, myelodysplastic syndrome, myeloid leukemia, chronic myelomonocytic leukemia, ebv-positive nodal t- and nk-cell lymphoma, myelodysplastic syndrome with excess blasts and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DNMT3A tissue","url":"https://www.proteinatlas.org/ENSG00000119772-DNMT3A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000119772 associations","url":"https://platform.opentargets.org/target/ENSG00000119772/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2978","ensembl":"ENSG00000119772","uniprot":"Q9Y6K1","entrez":"1788","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xie et al, Gene, 1999, \"Cloning, expression and chromosome locations of the human DNMT3 gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10433969/","biology":"A de novo methyltransferase working with DNMT3L during development and in haematopoietic stem cells; the R882H mutant acts dominantly to reduce methylation.","whereFound":["Haematopoietic stem cells","Mutated in a large share of AML and in clonal haematopoiesis"],"targetClass":"enzyme","prevalence":[{"cancerId":"aml","pct":22.1,"measure":"DNMT3A mutation, exon sequencing of 281 de novo AML cases (62 mutated)","source":"https://doi.org/10.1056/NEJMoa1005143","note":"33.7% in intermediate-risk cytogenetics and absent in favourable-risk disease; R882 the commonest site"}]},{"id":"pola1","kind":"target","name":"DNA polymerase alpha (POLA1)","aka":[],"tldr":"DNA polymerase alpha starts every new DNA strand; nucleoside chemotherapies such as cytarabine, fludarabine and gemcitabine are converted inside cells into fake building blocks that jam this and the other replicative polymerases.","summary":"DNA polymerase alpha, with its primase partner, lays down the first stretch of every new DNA strand before polymerases delta and epsilon take over. The replicative polymerases are the shared target of the nucleoside analogues: cytarabine and fludarabine in leukaemia and gemcitabine in pancreatic, lung, bladder and breast cancer are phosphorylated inside cells into triphosphates that compete with natural nucleotides, are incorporated into DNA and stall the polymerase, ending chain growth and triggering cell death. Clofarabine and nelarabine work the same way in acute lymphoblastic leukaemia.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/DNA_polymerase_alpha","links":[{"label":"UniProt P09884: POLA1","url":"https://www.uniprot.org/uniprotkb/P09884/entry"},{"label":"HGNC:9173 POLA1","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9173"},{"label":"ChEMBL target CHEMBL2363042","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2363042"}],"tags":["chembl-gap"],"related":["rrm1"],"cancers":["aml","all-leukemia","pancreatic","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["cytarabine","fludarabine","gemcitabine","clofarabine","nelarabine"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"POLA1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists POLA1 among essential proteins and finds the RNA at low tissue specificity; the 5 medicines aimed at it (Cytarabine, Fludarabine, Gemcitabine and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA POLA1: RNA low tissue specificity; high antibody staining in 15 normal tissues; highest cancer staining lymphoma (12 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Pancreatic ductal adenocarcinoma, Lung cancer (all types)); Open Targets associates it with 10 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, non-small cell lung carcinoma, B-cell chronic lymphocytic leukemia, acute myeloid leukemia, exocrine pancreatic carcinoma, ovarian carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas POLA1 tissue","url":"https://www.proteinatlas.org/ENSG00000101868-POLA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000101868 associations","url":"https://platform.opentargets.org/target/ENSG00000101868/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9173","ensembl":"ENSG00000101868","uniprot":"P09884","entrez":"5422","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wong S.W. et al, EMBO J, 1988, \"Human DNA polymerase alpha gene expression is cell proliferation dependent and its primary structure is similar to both prokaryotic and eukaryotic replicative DNA polymerases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3359994/","biology":"The catalytic subunit of the polymerase alpha-primase complex, essential for replication initiation and Okazaki fragment synthesis; inhibition arrests S phase.","whereFound":["All dividing cells","Leukaemias and solid tumours treated with nucleoside analogues"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (DNA strand initiation); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"dna2","kind":"target","name":"DNA2","aka":["DNA replication helicase/nuclease 2","DNA replication ATP-dependent helicase/nuclease DNA2","KIAA0083","DNA2L"],"tldr":"DNA2 (DNA replication ATP-dependent helicase/nuclease DNA2) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented by the presence of RPA.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.87, genetic association 0.03).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2939","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2939"},{"label":"UniProt P51530","url":"https://www.uniprot.org/uniprotkb/P51530/entry"},{"label":"NCBI Gene 1763","url":"https://www.ncbi.nlm.nih.gov/gene/1763"},{"label":"Ensembl ENSG00000138346","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138346"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DNA2","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2939","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2939","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51530","url":"https://www.uniprot.org/uniprotkb/P51530/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138346","url":"https://platform.opentargets.org/target/ENSG00000138346/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2939","ensembl":"ENSG00000138346","uniprot":"P51530","entrez":"1763","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1995, \"Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7788527/","biology":"Key enzyme involved in DNA replication and DNA repair in nucleus and mitochondrion. Involved in Okazaki fragments processing by cleaving long flaps that escape FEN1: flaps that are longer than 27 nucleotides are coated by replication protein A complex (RPA), leading to recruit DNA2 which cleaves the flap until it is too short to bind RPA and becomes a substrate for FEN1. Also involved in 5'-end resection of DNA during double-strand break (DSB) repair: recruited by BLM and mediates the cleavage of 5'-ssDNA, while the 3'-ssDNA cleavage is prevented by the presence of RPA. Also involved in DNA replication checkpoint independently of Okazaki fragments processing. Possesses different enzymatic activities, such as single-stranded DNA (ssDNA)-dependent ATPase, 5'-3' helicase and endonuclease activities. While the ATPase and endonuclease activities are well-defined and play a key role in Okazaki fragments processing and DSB repair, the 5'-3' DNA helicase activity is subject to debate. Location: Nucleus; Mitochondrion (UniProt). Locus 10q21.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"dnah11","kind":"target","name":"DNAH11","aka":["dynein axonemal heavy chain 11","Dynein axonemal heavy chain 11","Dnahc11","DPL11","CILD7","DNAHC11","DNAHBL","DNHBL"],"tldr":"DNAH11 (Dynein axonemal heavy chain 11) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Force generating protein required for cilia beating in respiratory epithelia. Produces force towards the minus ends of microtubules. Key component of dynein, a family of motor proteins essential for movement along microtubules.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.24, animal model 0.40, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2942","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2942"},{"label":"UniProt Q96DT5","url":"https://www.uniprot.org/uniprotkb/Q96DT5/entry"},{"label":"NCBI Gene 8701","url":"https://www.ncbi.nlm.nih.gov/gene/8701"},{"label":"Ensembl ENSG00000105877","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105877"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DNAH11","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2942","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2942","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96DT5","url":"https://www.uniprot.org/uniprotkb/Q96DT5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105877","url":"https://platform.opentargets.org/target/ENSG00000105877/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2942","ensembl":"ENSG00000105877","uniprot":"Q96DT5","entrez":"8701","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Maiti A.K. et al, 1999, \"Chromosomal localization of human dynein heavy chain genes\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96DT5/entry","biology":"Force generating protein required for cilia beating in respiratory epithelia. Produces force towards the minus ends of microtubules. Key component of dynein, a family of motor proteins essential for movement along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of cilia. Location: Cytoplasm, cytoskeleton, cilium axoneme (UniProt). Locus 7p15.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"dnajb1","kind":"target","name":"DNAJB1","aka":["DnaJ heat shock protein family (Hsp40) member B1","DnaJ homolog subfamily B member 1","Hsp40","Sis1","RSPH16B","HSPF1"],"tldr":"DNAJB1 (DnaJ homolog subfamily B member 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Interacts with HSP70 and can stimulate its ATPase activity. Acts also with TTC1 as a chaperone adapter that regulates HSP70-dependent folding process by interacting with the HSP70 amino terminal region. Stimulates the association between HSC70 and HIP.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.85, genetic association 0.00, somatic mutation 0.90).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5270","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5270"},{"label":"UniProt P25685","url":"https://www.uniprot.org/uniprotkb/P25685/entry"},{"label":"NCBI Gene 3337","url":"https://www.ncbi.nlm.nih.gov/gene/3337"},{"label":"Ensembl ENSG00000132002","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132002"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DNAJB1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5270","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5270","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25685","url":"https://www.uniprot.org/uniprotkb/P25685/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000132002","url":"https://platform.opentargets.org/target/ENSG00000132002/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5270","ensembl":"ENSG00000132002","uniprot":"P25685","entrez":"3337","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Raabe et al, Nucleic Acids Res, 1991, \"A human homologue of the Escherichia coli DnaJ heat-shock protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1754405/","biology":"Interacts with HSP70 and can stimulate its ATPase activity. Acts also with TTC1 as a chaperone adapter that regulates HSP70-dependent folding process by interacting with the HSP70 amino terminal region. Stimulates the association between HSC70 and HIP. Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro). Location: Cytoplasm; Nucleus; Nucleus, nucleolus (UniProt). Locus 19p13.12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"dnajc1","kind":"target","name":"DNAJC1","aka":["DnaJ heat shock protein family (Hsp40) member C1","DnaJ homolog subfamily C member 1","DNAJL1","ERdj1","MTJ1"],"tldr":"DNAJC1 (DnaJ homolog subfamily C member 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"May modulate protein synthesis.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.71, genetic association 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20090","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20090"},{"label":"UniProt Q96KC8","url":"https://www.uniprot.org/uniprotkb/Q96KC8/entry"},{"label":"NCBI Gene 64215","url":"https://www.ncbi.nlm.nih.gov/gene/64215"},{"label":"Ensembl ENSG00000136770","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136770"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DNAJC1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:20090","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20090","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96KC8","url":"https://www.uniprot.org/uniprotkb/Q96KC8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136770","url":"https://platform.opentargets.org/target/ENSG00000136770/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:20090","ensembl":"ENSG00000136770","uniprot":"Q96KC8","entrez":"64215","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kroczynska et al, J. Biol. Chem, 2004, \"The SANT2 domain of the murine tumor cell DnaJ-like protein 1 human homologue interacts with alpha1-antichymotrypsin and kinetically interferes with its serpin inhibitory activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14668352/","biology":"May modulate protein synthesis. Location: Endoplasmic reticulum membrane; Nucleus membrane; Microsome membrane (UniProt). Locus 10p12.31 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"dnajc12","kind":"target","name":"DNAJC12","aka":["DnaJ heat shock protein family (Hsp40) member C12","JDP1"],"tldr":"DNAJC12 is a co-chaperone gene that is strongly expressed in oestrogen receptor-positive (luminal) breast cancers and is used as a luminal marker.","summary":"UniProt describes DNAJC12 as an Hsp40 co-chaperone that helps fold the aromatic amino acid hydroxylases. In breast cancer it is an oestrogen-responsive gene that separates luminal from basal-like tumours in expression data, and one of the genes whose protein closely follows its transcript.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:28908","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28908"},{"label":"UniProt Q9UKB3","url":"https://www.uniprot.org/uniprotkb/Q9UKB3/entry"}],"tags":["cansim-terms"],"related":[],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["co-amplification","cancer-ai-vocabulary","pam50","hormone-receptor-status","mrna-protein-concordance"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"DNAJC12","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:28908","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28908","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt Q9UKB3","url":"https://www.uniprot.org/uniprotkb/Q9UKB3/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:28908","ensembl":"ENSG00000108176","uniprot":"Q9UKB3","entrez":"56521","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee et al, Biochim. Biophys. Acta, 2000, \"Characterization of JDP genes, an evolutionarily conserved J domain-only protein family, from human and moths\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10760603/","biology":"Probable co-chaperone for the folding of biopterin-dependent aromatic amino acid hydroxylases (PAH, TH, TPH1 and TPH2); expressed at high levels in brain, heart and testis (UniProt Q9UKB3).","whereFound":["Locus 10q21.3 (HGNC)."],"targetClass":"other","prevalence":[]},{"id":"dnm2","kind":"target","name":"DNM2","aka":["dynamin 2","Dynamin-2","DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"tldr":"DNM2 (Dynamin-2) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia, Non-Hodgkin lymphoma, Colorectal cancer and 3 more.","summary":"Catalyses the hydrolysis of GTP and utilises this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organisation of the actin cytoskeleton. Plays an important role in vesicular trafficking processes, namely clathrin-mediated endocytosis (CME), exocytic and clathrin-coated vesicle from the trans-Golgi network, and PDGF stimulated macropinocytosis. During vesicular trafficking process, associates to the membrane, through lipid binding, and self-assembles into ring-like structure through oligomerisation to form a helical polymer around the vesicle membrane and leading to vesicle scission.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes affected pathway 0.54, literature 0.93, genetic association 0.00, somatic mutation 0.98, animal model 0.58).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2974","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2974"},{"label":"UniProt P50570","url":"https://www.uniprot.org/uniprotkb/P50570/entry"},{"label":"NCBI Gene 1785","url":"https://www.ncbi.nlm.nih.gov/gene/1785"},{"label":"Ensembl ENSG00000079805","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000079805"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","colorectal","skin-cancer","breast-cancer","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DNM2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2974","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2974","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50570","url":"https://www.uniprot.org/uniprotkb/P50570/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000079805","url":"https://platform.opentargets.org/target/ENSG00000079805/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.55, acute lymphoblastic leukaemia 0.51, non-Hodgkin lymphoma 0.56, skin cancer 0.51, breast cancer 0.51, leukaemia 0.58 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2974","ensembl":"ENSG00000079805","uniprot":"P50570","entrez":"1785","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Diatloff-Zito et al, Gene, 1995, \"Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7590285/","biology":"Catalyses the hydrolysis of GTP and utilises this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organisation of the actin cytoskeleton. Plays an important role in vesicular trafficking processes, namely clathrin-mediated endocytosis (CME), exocytic and clathrin-coated vesicle from the trans-Golgi network, and PDGF stimulated macropinocytosis. During vesicular trafficking process, associates to the membrane, through lipid binding, and self-assembles into ring-like structure through oligomerisation to form a helical polymer around the vesicle membrane and leading to vesicle scission. Plays a role in organisation of the actin cytoskeleton by mediating arrangement of stress fibres and actin bundles in podocytes. During organisation of the actin cytoskeleton, self-assembles into ring-like structure that directly bundles actin filaments to form typical membrane tubules decorated with dynamin spiral polymers. Self-assembly increases GTPase activity and the GTP hydrolysis causes the rapid depolymerisation of dynamin spiral polymers, and results in dispersion of actin bundles. Location: Cytoplasm, cytoskeleton; Cytoplasmic vesicle, clathrin-coated vesicle; Cell projection, uropodium; Endosome (UniProt). Locus 19p13.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.58 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)","Acute lymphoblastic leukaemia: Open Targets association 0.51 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"enzyme","prevalence":[]},{"id":"dnmt1","kind":"target","name":"DNMT1 (DNA methyltransferase 1)","aka":[],"tldr":"The enzyme that copies methylation marks onto newly made DNA, keeping genes silenced. Azacitidine and decitabine trap and destroy it, waking silenced tumour suppressor genes in blood cancers.","summary":"DNMT1 maintains DNA methylation by copying the pattern from the parent strand to the new strand after replication. Azacitidine and decitabine are cytidine analogues incorporated into DNA that covalently trap DNMT1, which is then degraded, so methylation is lost over successive cell divisions and silenced genes are re-expressed; at higher doses they are also directly cytotoxic. They are standard treatment for higher-risk myelodysplastic syndromes and, with venetoclax, for older or unfit patients with acute myeloid leukaemia. Oral decitabine with cedazuridine matches intravenous exposure.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/DNMT1","links":[{"label":"UniProt P26358: DNMT1","url":"https://www.uniprot.org/uniprotkb/P26358/entry"}],"tags":[],"related":[],"cancers":["mds","aml","cmml"],"sections":[],"technologies":[],"targets":[],"drugs":["azacitidine","decitabine"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"DNMT1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists DNMT1 among essential proteins and finds the RNA at low tissue specificity; the 2 medicines aimed at it (Azacitidine, Decitabine) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA DNMT1: RNA low tissue specificity; high antibody staining in 5 normal tissues; highest cancer staining lymphoma (1 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia); Open Targets associates it with 4 specific cancer types at or above 0.5 (acute myeloid leukemia, myelodysplastic syndrome, chronic myelomonocytic leukemia, myelodysplastic syndrome with excess blasts). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DNMT1 tissue","url":"https://www.proteinatlas.org/ENSG00000130816-DNMT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000130816 associations","url":"https://platform.opentargets.org/target/ENSG00000130816/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2976","ensembl":"ENSG00000130816","uniprot":"P26358","entrez":"1786","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yen R.-W.C. et al, Nucleic Acids Res, 1992, \"Isolation and characterization of the cDNA encoding human DNA methyltransferase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1594447/","biology":"Maintenance DNA methyltransferase acting at hemimethylated CpG sites after replication; covalently trapped by incorporated azacytosine.","whereFound":["Myelodysplastic syndromes","Acute myeloid leukaemia","Chronic myelomonocytic leukaemia"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (methylation maintenance during replication); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"dnmt3b","kind":"target","name":"DNMT3B","aka":["DNA methyltransferase 3 beta","DNA (cytosine-5)-methyltransferase 3B"],"tldr":"DNMT3B (DNA (cytosine-5)-methyltransferase 3B) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.76, genetic association 0.54).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2979","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2979"},{"label":"UniProt Q9UBC3","url":"https://www.uniprot.org/uniprotkb/Q9UBC3/entry"},{"label":"NCBI Gene 1789","url":"https://www.ncbi.nlm.nih.gov/gene/1789"},{"label":"Ensembl ENSG00000088305","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000088305"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DNMT3B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2979","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2979","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UBC3","url":"https://www.uniprot.org/uniprotkb/Q9UBC3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000088305","url":"https://platform.opentargets.org/target/ENSG00000088305/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2979","ensembl":"ENSG00000088305","uniprot":"Q9UBC3","entrez":"1789","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xie et al, Gene, 1999, \"Cloning, expression and chromosome locations of the human DNMT3 gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10433969/","biology":"Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing. In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Location: Nucleus (UniProt). Locus 20q11.21 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"dock8","kind":"target","name":"DOCK8","aka":["dedicator of cytokinesis 8","Dedicator of cytokinesis protein 8","FLJ00026","FLJ00152","ZIR8","FLJ00346"],"tldr":"DOCK8 (Dedicator of cytokinesis protein 8) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP. During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC. Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.79, genetic association 0.52, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19191","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19191"},{"label":"UniProt Q8NF50","url":"https://www.uniprot.org/uniprotkb/Q8NF50/entry"},{"label":"NCBI Gene 81704","url":"https://www.ncbi.nlm.nih.gov/gene/81704"},{"label":"Ensembl ENSG00000107099","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107099"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DOCK8","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:19191","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19191","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NF50","url":"https://www.uniprot.org/uniprotkb/Q8NF50/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107099","url":"https://platform.opentargets.org/target/ENSG00000107099/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:19191","ensembl":"ENSG00000107099","uniprot":"Q8NF50","entrez":"81704","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ottolenghi et al, Genomics, 2000, \"The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10729223/","biology":"Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP. During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC. Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane. Is involved in NK cell cytotoxicity by controlling polarisation of microtubule-organising centre (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing. Location: Cytoplasm; Cell membrane; Cell projection, lamellipodium membrane (UniProt). Locus 9p24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"drd2","kind":"target","name":"Dopamine D2 receptor","aka":[],"tldr":"The dopamine D2 receptor is how cabergoline and bromocriptine shrink prolactin-secreting pituitary tumours without surgery, and it is the target of the antiemetics metoclopramide and prochlorperazine used during chemotherapy.","summary":"The D2 dopamine receptor on pituitary lactotroph cells inhibits prolactin release, so the dopamine agonists cabergoline and bromocriptine are the first-line treatment for prolactinomas, normalising prolactin and shrinking the tumour in most patients; they also have some effect in other pituitary adenomas and in neuroendocrine tumours that express the receptor. In supportive care, D2 antagonists such as metoclopramide, prochlorperazine and olanzapine treat chemotherapy-induced nausea. D2 receptor expression on glioblastoma and other tumour cells has prompted trials of the antagonist ONC201 (dordaviprone), which acts on D2 and on the mitochondrial protease ClpP and was approved in 2025 for H3 K27M-mutant diffuse midline glioma.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Dopamine_receptor_D2","links":[{"label":"UniProt P14416: DRD2","url":"https://www.uniprot.org/uniprotkb/P14416/entry"},{"label":"HGNC:3023 DRD2","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3023"},{"label":"ChEMBL target CHEMBL217","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL217"}],"tags":["chembl-gap"],"related":["sstr2"],"cancers":["pituitary-tumours","neuroendocrine","glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":["dordaviprone"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"DRD2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA group enriched in normal brain, pituitary gland, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA DRD2: RNA group enriched (brain 62 nTPM, pituitary gland 57 nTPM); high antibody staining in 1 normal tissue. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types), Neuroendocrine tumours); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas DRD2 tissue","url":"https://www.proteinatlas.org/ENSG00000149295-DRD2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas DRD2 pathology","url":"https://www.proteinatlas.org/ENSG00000149295-DRD2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000149295 associations","url":"https://platform.opentargets.org/target/ENSG00000149295/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3023","ensembl":"ENSG00000149295","uniprot":"P14416","entrez":"1813","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Selbie L.A. et al, DNA, 1989, \"The major dopamine D2 receptor: molecular analysis of the human D2A subtype\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2533064/","biology":"A Gi-coupled G-protein-coupled receptor that lowers cyclic AMP; in the pituitary it suppresses prolactin gene expression and lactotroph proliferation.","whereFound":["Pituitary lactotrophs, striatum and chemoreceptor trigger zone","Prolactinomas, some neuroendocrine tumours and gliomas"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"host","measure":"Host target: dopamine receptor; also the target in prolactin-secreting pituitary tumours. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"dot1l","kind":"target","name":"DOT1L","aka":["DOT1 like histone lysine methyltransferase","Histone-lysine N-methyltransferase, H3 lysine-79 specific","KIAA1814","DOT1","KMT4"],"tldr":"DOT1L (Histone-lysine N-methyltransferase, H3 lysine-79 specific) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Diffuse large B-cell lymphoma and Neuroblastoma.","summary":"Histone methyltransferase that methylates 'Lys-79' of histone H3. Histones in nucleosomes are preferred as substrate compared to free histones. Binds to DNA.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Neuroblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24948","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24948"},{"label":"UniProt Q8TEK3","url":"https://www.uniprot.org/uniprotkb/Q8TEK3/entry"},{"label":"NCBI Gene 84444","url":"https://www.ncbi.nlm.nih.gov/gene/84444"},{"label":"Ensembl ENSG00000104885","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104885"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["dlbcl","neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["menin-kmt2a"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DOT1L","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24948","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24948","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8TEK3","url":"https://www.uniprot.org/uniprotkb/Q8TEK3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen DOT1L","url":"https://www.intogen.org/search?gene=DOT1L","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:24948","ensembl":"ENSG00000104885","uniprot":"Q8TEK3","entrez":"84444","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11347906/","biology":"Histone methyltransferase that methylates 'Lys-79' of histone H3. Histones in nucleosomes are preferred as substrate compared to free histones. Binds to DNA. Together with MLLT3/AF9, is involved in SCNN1A transcriptional repression following H3K79 hypermethylation at the promoter. Location: Nucleus; Cytoplasm (UniProt). Locus 19p13.3 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)","Neuroblastoma: IntOGen driver in 1 cohort (NBL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"dpyd","kind":"target","name":"DPYD","aka":["dihydropyrimidine dehydrogenase","Dihydropyrimidine dehydrogenase [NADP(+)]","DHPDHase"],"tldr":"DPYD (Dihydropyrimidine dehydrogenase [NADP(+)]) is an enzyme. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Head and neck squamous cell carcinoma and Gastric & gastro-oesophageal junction cancer.","summary":"Catalyses the reduction of uracil and thymine in the initial step of reductive pyrimidine catabolism, a pathway that yields beta-alanine from uracil and beta-aminoisobutyrate from thymine. Also capable of degrading the chemotherapeutic drug 5-fluorouracil.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 4 variants, naming Fluorouracil, Capecitabine, Tegafur and Leucovorin. Open Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes clinical 0.94, affected pathway 0.94, literature 0.87, genetic association 0.33, somatic mutation 0.23, animal model 0.38).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3012","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3012"},{"label":"UniProt Q12882","url":"https://www.uniprot.org/uniprotkb/Q12882/entry"},{"label":"NCBI Gene 1806","url":"https://www.ncbi.nlm.nih.gov/gene/1806"},{"label":"Ensembl ENSG00000188641","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000188641"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["head-and-neck","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DPYD","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3012","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3012","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12882","url":"https://www.uniprot.org/uniprotkb/Q12882/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DPYD","url":"https://civicdb.org/features/1526","note":"4 evidence items, 0 assertions, 4 variants; diseases: Cancer, Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000188641","url":"https://platform.opentargets.org/target/ENSG00000188641/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: gastric cancer 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA DPYD: RNA tissue enhanced (liver 64 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma, Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (gastric cancer). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas DPYD tissue","url":"https://www.proteinatlas.org/ENSG00000188641-DPYD/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000188641 associations","url":"https://platform.opentargets.org/target/ENSG00000188641/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3012","ensembl":"ENSG00000188641","uniprot":"Q12882","entrez":"1806","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lu Z.-H. et al, J. Biol. Chem, 1992, \"Purification and characterization of dihydropyrimidine dehydrogenase from human liver\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1512248/","biology":"Catalyses the reduction of uracil and thymine in the initial step of reductive pyrimidine catabolism, a pathway that yields beta-alanine from uracil and beta-aminoisobutyrate from thymine. Also capable of degrading the chemotherapeutic drug 5-fluorouracil. Location: Cytoplasm, cytosol (UniProt). Locus 1p21.3 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.54 with gastric cancer (MONDO_0001056)"],"targetClass":"enzyme","prevalence":[]},{"id":"drd5","kind":"target","name":"DRD5","aka":["dopamine receptor D5","Dopamine receptor D5","DRD1B","DRD1L2"],"tldr":"DRD5 (Dopamine receptor D5) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Glioma & glioblastoma.","summary":"G protein-coupled receptor for dopamine, a catecholamine neurotransmitter hormone that functions as the brain's 'reward chemical', driving motivation, reinforcement learning and pleasure. Dopamine binding causes a conformation change that triggers signalling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase. Dopamine receptors can be classified in two categories: (1) DRD5 (together with DRD1) is a D1-type receptor and is coupled to G(s) G proteins, mediating activation of adenylate cyclase activity, while D2-type receptors (DRD2, DRD3 and DRD4) are coupled to G(i)/G(o) G proteins and promote inhibition of adenylate cyclase activity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Dordaviprone.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3026","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3026"},{"label":"UniProt P21918","url":"https://www.uniprot.org/uniprotkb/P21918/entry"},{"label":"NCBI Gene 1816","url":"https://www.ncbi.nlm.nih.gov/gene/1816"},{"label":"Ensembl ENSG00000169676","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169676"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DRD5","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3026","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3026","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P21918","url":"https://www.uniprot.org/uniprotkb/P21918/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DRD5","url":"https://civicdb.org/features/1536","note":"1 evidence items, 0 assertions, 1 variants; diseases: Glioblastoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA DRD5: RNA group enriched (brain 3 nTPM, lymphoid tissue 1 nTPM, stomach 1 4 nTPM); high antibody staining in 2 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas DRD5 tissue","url":"https://www.proteinatlas.org/ENSG00000169676-DRD5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169676 associations","url":"https://platform.opentargets.org/target/ENSG00000169676/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3026","ensembl":"ENSG00000169676","uniprot":"P21918","entrez":"1816","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sunahara R.K. et al, Nature, 1991, \"Cloning of the gene for a human dopamine D5 receptor with higher affinity for dopamine than D1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1826762/","biology":"G protein-coupled receptor for dopamine, a catecholamine neurotransmitter hormone that functions as the brain's 'reward chemical', driving motivation, reinforcement learning and pleasure. Dopamine binding causes a conformation change that triggers signalling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase. Dopamine receptors can be classified in two categories: (1) DRD5 (together with DRD1) is a D1-type receptor and is coupled to G(s) G proteins, mediating activation of adenylate cyclase activity, while D2-type receptors (DRD2, DRD3 and DRD4) are coupled to G(i)/G(o) G proteins and promote inhibition of adenylate cyclase activity. D1- and D2-type dopamine receptors have antagonistic effects, particularly in the brain's striatum, where they govern voluntary movement and reward: D1-type receptors generally stimulate neural activity and promotes action, while D2-type receptors tend to inhibit neural activity and suppress movement. DRD5 acts as a key regulator of blood pressure: negatively regulates the renin-angiotensin system (RAS), thereby reducing renal sodium absorption by the kidney. Location: Cell membrane (UniProt). Locus 4p16.1 (HGNC).","whereFound":["Glioma & glioblastoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"drosha","kind":"target","name":"DROSHA","aka":["drosha ribonuclease III","Ribonuclease 3","RNASE3L","Etohi2","HSA242976","RN3","RNASEN"],"tldr":"DROSHA (Ribonuclease 3) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Brain and spinal cord tumours, Pancreatic ductal adenocarcinoma and 5 more.","summary":"Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DROSHA cleaves the 3' and 5' strands of a stem-loop in pri-miRNAs (processing centre 11 bp from the dsRNA-ssRNA junction) to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.83, somatic mutation 0.92). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Lung Squamous Cell Carcinoma, Pancreatic Adenocarcinoma, Wilms' Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17904","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17904"},{"label":"UniProt Q9NRR4","url":"https://www.uniprot.org/uniprotkb/Q9NRR4/entry"},{"label":"NCBI Gene 29102","url":"https://www.ncbi.nlm.nih.gov/gene/29102"},{"label":"Ensembl ENSG00000113360","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113360"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","brain-tumours","pancreatic","ovarian","lung-cancer","skin-cancer","gastric","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Renal Wilms' Tumour."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DROSHA","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17904","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17904","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NRR4","url":"https://www.uniprot.org/uniprotkb/Q9NRR4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DROSHA","url":"https://civicdb.org/features/11314","note":"1 evidence items, 0 assertions, 1 variants; diseases: Renal Wilms' Tumour (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000113360","url":"https://platform.opentargets.org/target/ENSG00000113360/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: gastric cancer 0.51, ovarian cancer 0.56, skin cancer 0.55, brain cancer 0.57, breast cancer 0.63, lung cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen DROSHA","url":"https://www.intogen.org/search?gene=DROSHA","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA DROSHA: RNA low tissue specificity; no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Brain and spinal cord tumours (all types), Pancreatic ductal adenocarcinoma, Ovarian cancer, Lung cancer (all types), Skin cancer (all types), Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9NRR4","url":"https://www.uniprot.org/uniprotkb/Q9NRR4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DROSHA","url":"https://civicdb.org/features/11314","note":"1 evidence items, 0 assertions, 1 variants; diseases: Renal Wilms' Tumour (GraphQL API, CC0)"},{"label":"IntOGen DROSHA","url":"https://www.intogen.org/search?gene=DROSHA","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas DROSHA tissue","url":"https://www.proteinatlas.org/ENSG00000113360-DROSHA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113360 associations","url":"https://platform.opentargets.org/target/ENSG00000113360/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17904","ensembl":"ENSG00000113360","uniprot":"Q9NRR4","entrez":"29102","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wei Y.J. et al, 1998.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9NRR4/entry","biology":"Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DROSHA cleaves the 3' and 5' strands of a stem-loop in pri-miRNAs (processing centre 11 bp from the dsRNA-ssRNA junction) to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs. Involved also in pre-rRNA processing. Cleaves double-strand RNA and does not cleave single-strand RNA. Involved in the formation of GW bodies. Location: Nucleus; Nucleus, nucleolus; Cytoplasm (UniProt). Locus 5p13.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.63 with breast cancer (MONDO_0007254)","Brain and spinal cord tumours: Open Targets association 0.57 with brain cancer (MONDO_0001657)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170)","Lung cancer: Open Targets association 0.56 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)"],"targetClass":"enzyme","prevalence":[]},{"id":"dsp","kind":"target","name":"DSP","aka":["desmoplakin","Desmoplakin","KPPS2","PPKS2"],"tldr":"DSP (Desmoplakin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Nasopharyngeal carcinoma.","summary":"A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Critical for cell-cell adhesion in early stage blastocysts and progression through proamniotic cavity formation. Not required for preimplantation morphogenic process in blastocysts.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Nasopharyngeal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3052","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3052"},{"label":"UniProt P15924","url":"https://www.uniprot.org/uniprotkb/P15924/entry"},{"label":"NCBI Gene 1832","url":"https://www.ncbi.nlm.nih.gov/gene/1832"},{"label":"Ensembl ENSG00000096696","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000096696"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nasopharyngeal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct04988555"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DSP","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3052","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3052","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15924","url":"https://www.uniprot.org/uniprotkb/P15924/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen DSP","url":"https://www.intogen.org/search?gene=DSP","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3052","ensembl":"ENSG00000096696","uniprot":"P15924","entrez":"1832","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Green K.J. et al, J. Biol. Chem, 1990, \"Structure of the human desmoplakins. Implications for function in the desmosomal plaque\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1689290/","biology":"A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. Critical for cell-cell adhesion in early stage blastocysts and progression through proamniotic cavity formation. Not required for preimplantation morphogenic process in blastocysts. Required for keratin filament anchoring at the desmosome junction and subsequent organisation of the keratin intermediate filament network within the cytoplasm. Required for anchoring of desmosomes to the microtubule architecture, via its interaction with NIN. Promotes microtubule-mediated GJA1/CX43 trafficking to cell membranes via its interaction with MAPRE1/EB1, thereby facilitating gap junction intracellular communication. Location: Cell projection, axon; Cell junction, desmosome; Cell membrane; Cytoplasm (UniProt). Locus 6p24.3 (HGNC).","whereFound":["Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"dtx1","kind":"target","name":"DTX1","aka":["deltex E3 ubiquitin ligase 1","E3 ubiquitin-protein ligase DTX1","hDx-1","RNF140"],"tldr":"DTX1 (E3 ubiquitin-protein ligase DTX1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma and Chronic lymphocytic leukaemia.","summary":"E3 ubiquitin-protein ligase that mediates ubiquitination and proteasomal degradation of MEKK1, thereby modulating signalling pathways involved in cell fate determination. Regulates the Notch signalling pathway, acting predominantly as a positive regulator but functioning as a context-dependent negative regulator in specific developmental or cellular settings. Mediates the antineural activity of Notch signalling, likely by inhibiting transcriptional activation mediated by MATCH1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3060","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3060"},{"label":"UniProt Q86Y01","url":"https://www.uniprot.org/uniprotkb/Q86Y01/entry"},{"label":"NCBI Gene 1840","url":"https://www.ncbi.nlm.nih.gov/gene/1840"},{"label":"Ensembl ENSG00000135144","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135144"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["dlbcl","cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DTX1","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3060","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3060","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86Y01","url":"https://www.uniprot.org/uniprotkb/Q86Y01/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DTX1","url":"https://civicdb.org/features/1559","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen DTX1","url":"https://www.intogen.org/search?gene=DTX1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA DTX1: RNA tissue enhanced (adipose tissue 9 nTPM, lymphoid tissue 12 nTPM); no normal tissue stained high; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q86Y01","url":"https://www.uniprot.org/uniprotkb/Q86Y01/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DTX1","url":"https://civicdb.org/features/1559","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen DTX1","url":"https://www.intogen.org/search?gene=DTX1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas DTX1 tissue","url":"https://www.proteinatlas.org/ENSG00000135144-DTX1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000135144 associations","url":"https://platform.opentargets.org/target/ENSG00000135144/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3060","ensembl":"ENSG00000135144","uniprot":"Q86Y01","entrez":"1840","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Matsuno et al, Nat. Genet, 1998, \"Human deltex is a conserved regulator of Notch signalling\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9590294/","biology":"E3 ubiquitin-protein ligase that mediates ubiquitination and proteasomal degradation of MEKK1, thereby modulating signalling pathways involved in cell fate determination. Regulates the Notch signalling pathway, acting predominantly as a positive regulator but functioning as a context-dependent negative regulator in specific developmental or cellular settings. Mediates the antineural activity of Notch signalling, likely by inhibiting transcriptional activation mediated by MATCH1. Negatively regulates Notch signalling by controlling the activity of PIP4K2C, a lipid kinase that promotes recycling of Notch receptors from RAB4A-positive endosomes to the cell surface. Participates in several developmental and immune processes, including neurogenesis, lymphogenesis, and myogenesis. Influences lymphocyte differentiation by promoting B-cell development at the expense of T-cell development, suggesting functional antagonism of NOTCH1 in this context. Location: Cytoplasm; Nucleus; Endosome (UniProt). Locus 12q24.13 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease","Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"dusp16","kind":"target","name":"DUSP16","aka":["dual specificity phosphatase 16","Dual specificity protein phosphatase 16","MKP-7","KIAA1700","MKP7"],"tldr":"DUSP16 (Dual specificity protein phosphatase 16) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer.","summary":"Dual specificity protein phosphatase involved in the inactivation of MAP kinases. Dephosphorylates MAPK10 bound to ARRB2.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17909","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17909"},{"label":"UniProt Q9BY84","url":"https://www.uniprot.org/uniprotkb/Q9BY84/entry"},{"label":"NCBI Gene 80824","url":"https://www.ncbi.nlm.nih.gov/gene/80824"},{"label":"Ensembl ENSG00000111266","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111266"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DUSP16","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:17909","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17909","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BY84","url":"https://www.uniprot.org/uniprotkb/Q9BY84/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen DUSP16","url":"https://www.intogen.org/search?gene=DUSP16","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:17909","ensembl":"ENSG00000111266","uniprot":"Q9BY84","entrez":"80824","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11214970/","biology":"Dual specificity protein phosphatase involved in the inactivation of MAP kinases. Dephosphorylates MAPK10 bound to ARRB2. Location: Cytoplasm; Nucleus; Cytoplasmic vesicle (UniProt). Locus 12p13.2 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 2 cohorts (COADREAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"dusp2","kind":"target","name":"DUSP2","aka":["dual specificity phosphatase 2","Dual specificity protein phosphatase 2","PAC-1"],"tldr":"DUSP2 (Dual specificity protein phosphatase 2) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Dephosphorylates both phosphorylated Thr and Tyr residues in MAPK1, and dephosphorylation of phosphotyrosine is slightly faster than that of phosphothreonine. Can dephosphorylate MAPK1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3068","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3068"},{"label":"UniProt Q05923","url":"https://www.uniprot.org/uniprotkb/Q05923/entry"},{"label":"NCBI Gene 1844","url":"https://www.ncbi.nlm.nih.gov/gene/1844"},{"label":"Ensembl ENSG00000158050","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158050"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DUSP2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3068","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3068","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q05923","url":"https://www.uniprot.org/uniprotkb/Q05923/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DUSP2","url":"https://civicdb.org/features/1563","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA DUSP2: RNA tissue enhanced (bone marrow 122 nTPM); blood lineage group enriched (NK-cells 148 nTPM, T-cells 200 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas DUSP2 tissue","url":"https://www.proteinatlas.org/ENSG00000158050-DUSP2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000158050 associations","url":"https://platform.opentargets.org/target/ENSG00000158050/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3068","ensembl":"ENSG00000158050","uniprot":"Q05923","entrez":"1844","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rohan et al, Science, 1993, \"PAC-1: a mitogen-induced nuclear protein tyrosine phosphatase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7681221/","biology":"Dephosphorylates both phosphorylated Thr and Tyr residues in MAPK1, and dephosphorylation of phosphotyrosine is slightly faster than that of phosphothreonine. Can dephosphorylate MAPK1. Location: Nucleus (UniProt). Locus 2q11.2 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"dusp6","kind":"target","name":"DUSP6","aka":["dual specificity phosphatase 6","Dual specificity protein phosphatase 6","MKP-3","PYST1"],"tldr":"DUSP6 (Dual specificity protein phosphatase 6) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Dual specificity protein phosphatase, which mediates dephosphorylation and inactivation of MAP kinases. Has a specificity for the ERK family. Plays an important role in alleviating chronic postoperative pain.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Trametinib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3072","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3072"},{"label":"UniProt Q16828","url":"https://www.uniprot.org/uniprotkb/Q16828/entry"},{"label":"NCBI Gene 1848","url":"https://www.ncbi.nlm.nih.gov/gene/1848"},{"label":"Ensembl ENSG00000139318","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139318"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DUSP6","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3072","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3072","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16828","url":"https://www.uniprot.org/uniprotkb/Q16828/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DUSP6","url":"https://civicdb.org/features/1567","note":"1 evidence items, 0 assertions, 1 variants; diseases: Cancer (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA DUSP6: RNA tissue enhanced (salivary gland 213 nTPM); blood lineage group enriched (granulocytes 1,643 nTPM, monocytes 846 nTPM); no normal tissue stained high; highest cancer staining lung cancer (1 of 10 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas DUSP6 tissue","url":"https://www.proteinatlas.org/ENSG00000139318-DUSP6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139318 associations","url":"https://platform.opentargets.org/target/ENSG00000139318/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3072","ensembl":"ENSG00000139318","uniprot":"Q16828","entrez":"1848","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Groom L.A. et al, EMBO J, 1996, \"Differential regulation of the MAP, SAP and RK/p38 kinases by Pyst1, a novel cytosolic dual-specificity phosphatase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8670865/","biology":"Dual specificity protein phosphatase, which mediates dephosphorylation and inactivation of MAP kinases. Has a specificity for the ERK family. Plays an important role in alleviating chronic postoperative pain. Necessary for the normal dephosphorylation of the long-lasting phosphorylated forms of spinal MAPK1/3 and MAP kinase p38 induced by peripheral surgery, which drives the resolution of acute postoperative allodynia. Also important for dephosphorylation of MAPK1/3 in local wound tissue, which further contributes to resolution of acute pain. Promotes cell differentiation by regulating MAPK1/MAPK3 activity and regulating the expression of AP1 transcription factors. Location: Cytoplasm (UniProt). Locus 12q21.33 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"e2f7","kind":"target","name":"E2F7","aka":["E2F transcription factor 7"],"tldr":"E2F7 is an unusual member of the E2F family that represses genes rather than activating them, helping cells pause after DNA damage.","summary":"UniProt describes E2F7 as an atypical E2F that mainly represses transcription, recognising the E2 site without a DP partner and participating in the DNA damage response. It is a cell-cycle gene whose transcript and protein can diverge, one of the examples of decoupled mRNA and protein in proteogenomic data.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:23820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23820"},{"label":"UniProt Q96AV8","url":"https://www.uniprot.org/uniprotkb/Q96AV8/entry"}],"tags":["cansim-terms"],"related":[],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["p53-cell-cycle"],"terms":["co-amplification","cancer-ai-vocabulary","mrna-protein-concordance"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"E2F7","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23820","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt Q96AV8","url":"https://www.uniprot.org/uniprotkb/Q96AV8/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:23820","ensembl":"ENSG00000165891","uniprot":"Q96AV8","entrez":"144455","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Atypical E2F transcription repressor that binds DNA independently of DP proteins and acts in angiogenesis, polyploidisation and the DNA damage response (UniProt Q96AV8).","whereFound":["Locus 12q21.2 (HGNC)."],"targetClass":"transcription","prevalence":[]},{"id":"ebf1","kind":"target","name":"EBF1","aka":["EBF transcription factor 1","Transcription factor COE1","OLF1","COE1"],"tldr":"EBF1 (Transcription factor COE1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Non-Hodgkin lymphoma, Neuroendocrine tumours and 4 more.","summary":"Key pioneer transcription factor of B-cell specification and commitment. Recognises variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Operates in a transcription factor network to activate B-cell-specific genes and repress genes associated with alternative cell fates.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.93, animal model 0.43, genetic association 0.62, somatic mutation 0.83). IntOGen calls it a driver in 6 cohorts (3 activating, 3 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Lung Squamous Cell Carcinoma, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3126"},{"label":"UniProt Q9UH73","url":"https://www.uniprot.org/uniprotkb/Q9UH73/entry"},{"label":"NCBI Gene 1879","url":"https://www.ncbi.nlm.nih.gov/gene/1879"},{"label":"Ensembl ENSG00000164330","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164330"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","non-hodgkin-lymphoma","neuroendocrine","lung-cancer","skin-cancer","dlbcl","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EBF1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3126","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UH73","url":"https://www.uniprot.org/uniprotkb/Q9UH73/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EBF1","url":"https://civicdb.org/features/1590","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000164330","url":"https://platform.opentargets.org/target/ENSG00000164330/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.55, diffuse large B-cell lymphoma 0.54, non-Hodgkin lymphoma 0.62, skin cancer 0.54, breast cancer 0.66, lung cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen EBF1","url":"https://www.intogen.org/search?gene=EBF1","note":"driver in 6 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA EBF1: RNA tissue enhanced (adipose tissue 35 nTPM); blood lineage lineage enriched (B-cells 12 nTPM); no normal tissue stained high. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lymphoma, Neuroendocrine tumours, Lung cancer (all types), Skin cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (breast carcinoma, breast cancer, diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UH73","url":"https://www.uniprot.org/uniprotkb/Q9UH73/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EBF1","url":"https://civicdb.org/features/1590","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen EBF1","url":"https://www.intogen.org/search?gene=EBF1","note":"driver in 6 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas EBF1 tissue","url":"https://www.proteinatlas.org/ENSG00000164330-EBF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164330 associations","url":"https://platform.opentargets.org/target/ENSG00000164330/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3126","ensembl":"ENSG00000164330","uniprot":"Q9UH73","entrez":"1879","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gisler et al, Blood, 2000, \"Cloning of human early B-cell factor and identification of target genes suggest a conserved role in B-cell development in man and mouse\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10942392/","biology":"Key pioneer transcription factor of B-cell specification and commitment. Recognises variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Operates in a transcription factor network to activate B-cell-specific genes and repress genes associated with alternative cell fates. For instance, positively regulates many B-cell specific genes including BCR or CD40 while repressing genes that direct cells into alternative lineages, including GATA3 and TCF7 for the T-cell lineage. In addition to its role during lymphopoiesis, controls the thermogenic gene program in adipocytes during development and in response to environmental cold. In addition, binds to the viral LMP1 proximal promoter and promotes its expression during latency. Location: Nucleus (UniProt). Locus 5q33.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.66 with breast cancer (MONDO_0007254)","Non-Hodgkin lymphoma: Open Targets association 0.62 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Neuroendocrine tumours: Open Targets association 0.55 with neuroendocrine neoplasm (MONDO_0019496)","Lung cancer: Open Targets association 0.55 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: Open Targets association 0.54 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"ebf2","kind":"target","name":"EBF2","aka":["EBF transcription factor 2","Transcription factor COE2","FLJ11500","COE2"],"tldr":"EBF2 (Transcription factor COE2) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognises variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.36, animal model 0.53, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19090","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19090"},{"label":"UniProt Q9HAK2","url":"https://www.uniprot.org/uniprotkb/Q9HAK2/entry"},{"label":"NCBI Gene 64641","url":"https://www.ncbi.nlm.nih.gov/gene/64641"},{"label":"Ensembl ENSG00000221818","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000221818"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EBF2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:19090","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19090","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HAK2","url":"https://www.uniprot.org/uniprotkb/Q9HAK2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000221818","url":"https://platform.opentargets.org/target/ENSG00000221818/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:19090","ensembl":"ENSG00000221818","uniprot":"Q9HAK2","entrez":"64641","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Li et al, 2004.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9HAK2/entry","biology":"Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognises variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Location: Nucleus (UniProt). Locus 8p21.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"ecscr","kind":"target","name":"ECSCR","aka":["endothelial cell surface expressed chemotaxis and apoptosis regulator","Endothelial cell-specific chemotaxis regulator","ECSM2"],"tldr":"ECSCR (Endothelial cell-specific chemotaxis regulator) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Regulates endothelial chemotaxis and tube formation. Has a role in angiogenesis and apoptosis via modulation of the actin cytoskeleton and facilitation of proteasomal degradation of the apoptosis inhibitors BIRC3/IAP1 and BIRC2/IAP2.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Angiogenesis Inhibitor.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:35454","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:35454"},{"label":"UniProt Q19T08","url":"https://www.uniprot.org/uniprotkb/Q19T08/entry"},{"label":"NCBI Gene 641700","url":"https://www.ncbi.nlm.nih.gov/gene/641700"},{"label":"Ensembl ENSG00000249751","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000249751"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ECSCR","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:35454","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:35454","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q19T08","url":"https://www.uniprot.org/uniprotkb/Q19T08/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ECSCR","url":"https://civicdb.org/features/26599","note":"1 evidence items, 0 assertions, 1 variants; diseases: Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ECSCR: RNA low tissue specificity; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ECSCR tissue","url":"https://www.proteinatlas.org/ENSG00000249751-ECSCR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000249751 associations","url":"https://platform.opentargets.org/target/ENSG00000249751/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:35454","ensembl":"ENSG00000249751","uniprot":"Q19T08","entrez":"641700","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Regulates endothelial chemotaxis and tube formation. Has a role in angiogenesis and apoptosis via modulation of the actin cytoskeleton and facilitation of proteasomal degradation of the apoptosis inhibitors BIRC3/IAP1 and BIRC2/IAP2. Location: Cell membrane; Cytoplasm (UniProt). Locus 5q31.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ednra","kind":"target","name":"EDNRA","aka":["endothelin receptor type A","Endothelin-1 receptor","ET-A","ETA-R","hET-AR"],"tldr":"EDNRA (Endothelin-1 receptor) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Prostate cancer.","summary":"Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.94, animal model 0.71, genetic association 0.00, clinical 0.85).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3179","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3179"},{"label":"UniProt P25101","url":"https://www.uniprot.org/uniprotkb/P25101/entry"},{"label":"NCBI Gene 1909","url":"https://www.ncbi.nlm.nih.gov/gene/1909"},{"label":"Ensembl ENSG00000151617","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000151617"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.85. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EDNRA","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3179","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3179","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25101","url":"https://www.uniprot.org/uniprotkb/P25101/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000151617","url":"https://platform.opentargets.org/target/ENSG00000151617/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: prostate cancer 0.52 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EDNRA: RNA tissue enhanced (seminal vesicle 107 nTPM); no normal tissue stained high; highest cancer staining pancreatic cancer (2 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (prostate cancer). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EDNRA tissue","url":"https://www.proteinatlas.org/ENSG00000151617-EDNRA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000151617 associations","url":"https://platform.opentargets.org/target/ENSG00000151617/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3179","ensembl":"ENSG00000151617","uniprot":"P25101","entrez":"1909","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Adachi et al, Biochem. Biophys. Res. Commun, 1991, \"Cloning and characterization of cDNA encoding human A-type endothelin receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1719979/","biology":"Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1 > ET2 >> ET3. Location: Cell membrane (UniProt). Locus 4q31.22-q31.23 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"eed","kind":"target","name":"EED","aka":["embryonic ectoderm development","Polycomb protein EED","WAIT-1"],"tldr":"EED (Polycomb protein EED) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and the evidence so far is association rather than a proven role.","summary":"Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognises 'Lys-26' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 'Lys-27', whereas H3 'Lys-27' recognition has the opposite effect, enabling the propagation of this repressive mark.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.52, affected pathway 0.68, genetic association 0.19, somatic mutation 0.49). In OnCo, 1 product record names it (Rinzimetostat).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3188","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3188"},{"label":"UniProt O75530","url":"https://www.uniprot.org/uniprotkb/O75530/entry"},{"label":"NCBI Gene 8726","url":"https://www.ncbi.nlm.nih.gov/gene/8726"},{"label":"Ensembl ENSG00000074266","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000074266"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["rinzimetostat"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 1 OnCo product record names it. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EED","role":["drug-target"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3188","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3188","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75530","url":"https://www.uniprot.org/uniprotkb/O75530/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000074266","url":"https://platform.opentargets.org/target/ENSG00000074266/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Rinzimetostat) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA EED: RNA low tissue specificity; high antibody staining in 5 normal tissues; highest cancer staining lymphoma (1 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EED tissue","url":"https://www.proteinatlas.org/ENSG00000074266-EED/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000074266 associations","url":"https://platform.opentargets.org/target/ENSG00000074266/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3188","ensembl":"ENSG00000074266","uniprot":"O75530","entrez":"8726","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schumacher et al, Genomics, 1998, \"The murine Polycomb-group gene eed and its human orthologue: functional implications of evolutionary conservation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9806832/","biology":"Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognises 'Lys-26' trimethylated histone H1 with the effect of inhibiting PRC2 complex methyltransferase activity on nucleosomal histone H3 'Lys-27', whereas H3 'Lys-27' recognition has the opposite effect, enabling the propagation of this repressive mark. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A. Location: Nucleus; Chromosome (UniProt). Locus 11q14.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"eftud2","kind":"target","name":"EFTUD2","aka":["elongation factor Tu GTP binding domain containing 2","116 kDa U5 small nuclear ribonucleoprotein component","U5-116KD","Snrp116","Snu114","SNRNP116"],"tldr":"EFTUD2 (116 kDa U5 small nuclear ribonucleoprotein component) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.","summary":"Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes. Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30858","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30858"},{"label":"UniProt Q15029","url":"https://www.uniprot.org/uniprotkb/Q15029/entry"},{"label":"NCBI Gene 9343","url":"https://www.ncbi.nlm.nih.gov/gene/9343"},{"label":"Ensembl ENSG00000108883","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108883"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EFTUD2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30858","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30858","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15029","url":"https://www.uniprot.org/uniprotkb/Q15029/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen EFTUD2","url":"https://www.intogen.org/search?gene=EFTUD2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30858","ensembl":"ENSG00000108883","uniprot":"Q15029","entrez":"9343","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584026/","biology":"Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes. Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs. Location: Nucleus (UniProt). Locus 17q21.31 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"oncogene","prevalence":[]},{"id":"egf","kind":"target","name":"EGF","aka":["epidermal growth factor","Pro-epidermal growth factor"],"tldr":"EGF (Pro-epidermal growth factor) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Head and neck squamous cell carcinoma.","summary":"EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cetuximab. Open Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.99, genetic association 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3229","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3229"},{"label":"UniProt P01133","url":"https://www.uniprot.org/uniprotkb/P01133/entry"},{"label":"NCBI Gene 1950","url":"https://www.ncbi.nlm.nih.gov/gene/1950"},{"label":"Ensembl ENSG00000138798","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138798"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["rtk-activation"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EGF","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3229","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3229","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01133","url":"https://www.uniprot.org/uniprotkb/P01133/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EGF","url":"https://civicdb.org/features/1634","note":"1 evidence items, 0 assertions, 1 variants; diseases: Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000138798","url":"https://platform.opentargets.org/target/ENSG00000138798/associations","note":"association with cancer (MONDO_0004992) 0.65;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EGF: RNA group enriched (kidney 103 nTPM, pancreas 84 nTPM, skeletal muscle 26 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EGF tissue","url":"https://www.proteinatlas.org/ENSG00000138798-EGF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138798 associations","url":"https://platform.opentargets.org/target/ENSG00000138798/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3229","ensembl":"ENSG00000138798","uniprot":"P01133","entrez":"1950","firstDescribed":1977,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gregory et al, Int. J. Pept. Protein Res, 1977, \"The primary structure of human urogastrone\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/300079/","biology":"EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro. Location: Membrane (UniProt). Locus 4q25 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"egfr","kind":"target","name":"EGFR","aka":[],"tldr":"A growth receptor that is mutated in some lung cancers and overproduced in others; the first great success of targeted pills.","summary":"EGFR activating mutations (exon 19 del, L858R) drive ~15% of Western and ~40-50% of East Asian NSCLC; osimertinib is standard first-line. EGFR is also an antibody target in colorectal and head-and-neck cancer (cetuximab, panitumumab) and a component of bispecifics (amivantamab, EGFR×MET; EGFR×HER3 ADCs). Resistance via C797S, MET amplification, and histologic transformation is the central problem.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Epidermal_growth_factor_receptor","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Epidermal_growth_factor_receptor"}],"tags":["driver","kinase"],"related":["egfr-exon-19-deletion","egfr-l858r","egfr-exon-20-insertion","egfr-t790m","egfr-c797s"],"cancers":["nsclc","colorectal","head-and-neck","glioblastoma","tnbc","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":["dacomitinib","mobocertinib","guardant360-cdx","oncomine-dx-target-test","therascreen-cdx","tempus-xt-cdx","necitumumab","hlx43","zipalertinib","jmt101","hs-20117","mcla-129","tqb6411","tqb2930","tqb2922","e-edv-d682","hmbd-001","silevertinib","vrn110755","js111"],"companies":["bicara-therapeutics","imagene-ai","inivata","lucence","oric-pharmaceuticals"],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","breast-cancer-signalling","choline-metabolism-in-cancer","colorectal-cancer-signalling","glioma-signalling","nsclc-signalling","prostate-cancer-signalling"],"terms":["sidedness","wild-type","egfr-mutation-subtypes","egfr-exon19-l858r","egfr-exon20-insertion"],"trials":["nct06043817","nct06567015","nct06975410","nct05394831","nct05168566","nct07467863","nct06080776","nct06616766","nct07136779","nct07641023","nct05920135","nct06940401","nct06010329"],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-breast-molecular-portraits-nature-2012","paper-lehmann-tnbc-subtypes-jci-2011","paper-missiaglia-distal-proximal-colon-cancers-ann-oncol-2014","paper-diaz-molecular-evolution-egfr-resistance-colorectal-nature-2012","paper-misale-kras-acquired-resistance-anti-egfr-colorectal-nature-2012","paper-erices-chilean-gallbladder-landscape-front-oncol-2025","paper-kris-lung-cancer-mutation-consortium-jama-2014","paper-tcga-lung-adenocarcinoma-nature-2014","paper-lindeman-lung-molecular-testing-guideline-jto-2018"],"journals":[],"dependsOn":[],"notes":["Triple-negative breast cancer: EGFR is amplified or gained in 23% of basal-like tumours but rarely mutated (Cancer Genome Atlas 2012), high-level amplification 3 to 6% by cohort (cBioPortal); EGFR-directed antibodies failed unselected, and the receptor now matters as one arm of the EGFR-HER3 bispecific antibody-drug conjugate izalontamab brengitecan.","Colorectal cancer: a target without an alteration. Cetuximab and panitumumab work in RAS and BRAF wild-type, left-sided disease regardless of EGFR copy number or expression, and no EGFR test selects them; the biomarkers are negative ones (Karapetis 2008, Douillard 2013) plus primary tumour side (Arnold 2017). High-level EGFR amplification is 1 to 2% (cBioPortal) and epiregulin overexpression marks the distal, ligand-dependent tumours (Missiaglia 2014). Acquired resistance is read in plasma as emerging KRAS, NRAS, BRAF and EGFR ectodomain alterations, detectable months before imaging (Misale 2012, Diaz 2012).","Lung cancer: mutated in 12.4% of resected Western adenocarcinoma and 47.4% of East Asian adenocarcinoma, with 28.4% in never-smoker whole genomes (cBioPortal), the widest ancestry gap of any biomarker in solid-tumour oncology. The class matters more than the gene: exon 19 deletions (about 14% of adenocarcinomas) and L858R (about 11%) respond to every generation of inhibitor, exon 20 insertions (about 2%) respond to none of them and need different medicines, and the uncommon G719X, L861Q and S768I alleles do better on a second-generation irreversible inhibitor than on a first-generation one. Resistance is read in the same gene: T790M in 63% of rebiopsies after a first-generation inhibitor (Yu 2013) and C797S in 22% after osimertinib, where the allelic phase with T790M decides whether a combination can cover it (Thress 2015, Oxnard 2018). Immunohistochemistry is not acceptable for EGFR testing (Lindeman 2018)."],"symbol":"EGFR","role":[],"sources":[],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: 4 of 4 label readouts filed under it measure a sequence variant (EGFR exon 19 deletion, EGFR exon 20 insertion, EGFR L858R, EGFR T790M) absent from normal cells. HPA EGFR: RNA tissue enhanced (placenta 62 nTPM); high antibody staining in 4 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Colorectal cancer, Head and neck squamous cell carcinoma, Brain and spinal cord tumours (all types), Biliary tract cancer (all types)); approvals of single-target medicines aimed at it also list Pancreatic ductal adenocarcinoma, Oesophageal cancer, not counted; Open Targets associates it with 17 specific cancer types at or above 0.5 (non-small cell lung carcinoma, lung adenocarcinoma, head and neck squamous cell carcinoma, lung cancer, breast cancer, colorectal adenocarcinoma and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"EGFR exon 19 deletion label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=5e81b4a7-b971-45e1-9c31-29cea8c87ce7","note":"EGFR exon 19 deletion or exon 21 L858R"},{"label":"EGFR exon 20 insertion label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=1466c070-9f97-4fa4-a955-6a6b59981fb8","note":"EGFR exon 20 insertion"},{"label":"Human Protein Atlas EGFR tissue","url":"https://www.proteinatlas.org/ENSG00000146648-EGFR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000146648 associations","url":"https://platform.opentargets.org/target/ENSG00000146648/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3236","ensembl":"ENSG00000146648","uniprot":"P00533","entrez":"1956","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ullrich et al, Nature, 1984, \"Human epidermal growth factor receptor cDNA sequence and aberrant expression of the amplified gene in A431 epidermoid carcinoma cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6328312/","biology":"EGFR is a receptor tyrosine kinase activating RAS-MAPK and PI3K-AKT. Exon 20 insertions need dedicated drugs.","whereFound":["NSCLC (mutations)","Colorectal (wild-type, antibody target)","Head and neck squamous","Glioblastoma (amplification, EGFRvIII)","Triple-negative breast cancer: amplification 3-6%","Colorectal cancer: high-level amplification (and acquired ectodomain mutation) 1-2%","Gallbladder cancer: amplification or mutation 1-3%","Non-small-cell lung cancer: activating mutation (any class) 12-47%","Non-small-cell lung cancer: in-frame deletion around codons 746 to 750 13-19%","Non-small-cell lung cancer: exon 21 point mutation 9-21%","Non-small-cell lung cancer: in-frame insertion or duplication in the loop after the c-helix 1-3%","Non-small-cell lung cancer: g719x, l861q, s768i and compound alleles 3-5%"],"targetClass":"kinase","prevalence":[{"cancerId":"nsclc","pct":"10-15","measure":"Activating mutation (US/Europe)","source":"https://www.cbioportal.org/study/summary?id=luad_tcga_pan_can_atlas_2018","note":"40-50% in East Asian adenocarcinoma"},{"cancerId":"colorectal","pct":100,"measure":"Wild-type EGFR is the antibody target","source":"https://en.wikipedia.org/wiki/Epidermal_growth_factor_receptor","note":"Benefit restricted to RAS/BRAF wild-type (~40%)"},{"cancerId":"head-and-neck","pct":"80-90","measure":"Overexpression by IHC","source":"https://en.wikipedia.org/wiki/Epidermal_growth_factor_receptor"},{"cancerId":"glioblastoma","pct":"40-50","measure":"Amplification","source":"https://www.cbioportal.org/study/summary?id=gbm_tcga_pan_can_atlas_2018","note":"EGFRvIII in ~25-30%"},{"cancerId":"tnbc","pct":"3-6","measure":"Amplification","source":"https://doi.org/10.1038/nature11412","note":"EGFR amplified (gains included) in 23% of basal-like tumours, alongside PIK3CA 49%, KRAS 32% and BRAF 30% (Cancer Genome Atlas 2012); cBioPortal high-level amplification: 5 of 119, 4.2%, in brca_tcga_pan_can_atlas_2018; 19 of 320, 5.9%, in brca_metabric; 5 of 176, 2.8%, in breast_msk_2018. Growth-factor signalling defines the BL2 subtype (Lehmann 2011)."},{"cancerId":"colorectal","pct":"1-2","measure":"High-level amplification (and acquired ectodomain mutation)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal high-level amplification: 101 of 7,237, 1.4%, in crc_msk_2026; 16 of 1,134, 1.4%, in crc_msk_2017; 19 of 1,516 in crc_eo_2020; 4 of 592 in coadread_tcga_pan_can_atlas_2018. Distal tumours are the ones that carry EGFR or HER2 amplification and overexpress epiregulin (Missiaglia 2014)."},{"cancerId":"gallbladder","pct":"1-3","measure":"Amplification or mutation","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Amplification in 8 of 244 samples, 3.3%, and mutation in 3 of 244, 1.2%, in cBioPortal gbc_mskcc_2022; 3.1% of 32 exomes in gbc_shanghai_2014; among the actionable variants in the Chilean cohort (Erices 2025)."},{"cancerId":"nsclc","pct":"12-47","measure":"Activating mutation (any class)","source":"https://www.cbioportal.org/study/summary?id=luad_oncosg_2020","note":"cBioPortal: 143 of 302, 47.4%, in luad_oncosg_2020 (East Asian); 866 of 2,653, 32.6%, in luad_mskcc_2023_met_organotropism; 268 of 915, 29.3%, in lung_msk_2017; 66 of 232, 28.4%, in lung_nci_2022 (never smokers); 662 of 2,621, 25.3%, in nsclc_ctdx_msk_2022; 38 of 110, 34.5%, in luad_cptac_2020; 70 of 566, 12.4%, in luad_tcga_pan_can_atlas_2018; 33 of 230, 14.3%, in luad_tcga_pub. The Lung Cancer Mutation Consortium found sensitising EGFR in 122 of 733, 17%, plus other EGFR mutations in 29 (Kris 2014)."},{"cancerId":"nsclc","pct":"13-19","measure":"In-frame deletion around codons 746 to 750","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal, samples carrying the class: 382 of 2,653, 14.4%, in luad_mskcc_2023_met_organotropism; 308 of 2,621, 11.8%, in nsclc_ctdx_msk_2022; 117 of 915, 12.8%, in lung_msk_2017; 57 of 302, 18.9%, in luad_oncosg_2020; 38 of 232, 16.4%, in lung_nci_2022; 23 of 566, 4.1%, in luad_tcga_pan_can_atlas_2018. E746_A750del is the single commonest variant (237 of 1,114 EGFR records in luad_mskcc_2023_met_organotropism)."},{"cancerId":"nsclc","pct":"9-21","measure":"Exon 21 point mutation","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal, samples: 289 of 2,653, 10.9%, in luad_mskcc_2023_met_organotropism; 206 of 2,621, 7.9%, in nsclc_ctdx_msk_2022; 82 of 915, 9.0%, in lung_msk_2017; 63 of 302, 20.9%, in luad_oncosg_2020; 20 of 232, 8.6%, in lung_nci_2022; 23 of 566, 4.1%, in luad_tcga_pan_can_atlas_2018."},{"cancerId":"nsclc","pct":"1-3","measure":"In-frame insertion or duplication in the loop after the C-helix","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal, samples: 47 of 2,653, 1.8%, in luad_mskcc_2023_met_organotropism; 45 of 2,621, 1.7%, in nsclc_ctdx_msk_2022; 17 of 915, 1.9%, in lung_msk_2017; 4 of 232, 1.7%, in lung_nci_2022; 3 of 302, 1.0%, in luad_oncosg_2020. About 5 to 6% of EGFR-mutant lung adenocarcinoma."},{"cancerId":"nsclc","pct":"3-5","measure":"G719X, L861Q, S768I and compound alleles","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal, samples out of 2,653 in luad_mskcc_2023_met_organotropism: G719X 57 (2.1%), L861Q 30 (1.1%), S768I 30 (1.1%); out of 2,621 in nsclc_ctdx_msk_2022: G719X 28, S768I 19, L861Q 15; out of 915 in lung_msk_2017: G719X 14, L861Q 8, S768I 5. Together they are 117 of 2,653 samples, 4.4%, in the largest cohort."}]},{"id":"egr2","kind":"target","name":"EGR2","aka":["early growth response 2","E3 SUMO-protein ligase EGR2","KROX20"],"tldr":"EGR2 (E3 SUMO-protein ligase EGR2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Chronic lymphocytic leukaemia.","summary":"Sequence-specific DNA-binding transcription factor. Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin. Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3239","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3239"},{"label":"UniProt P11161","url":"https://www.uniprot.org/uniprotkb/P11161/entry"},{"label":"NCBI Gene 1959","url":"https://www.ncbi.nlm.nih.gov/gene/1959"},{"label":"Ensembl ENSG00000122877","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122877"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EGR2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3239","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3239","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11161","url":"https://www.uniprot.org/uniprotkb/P11161/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen EGR2","url":"https://www.intogen.org/search?gene=EGR2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3239","ensembl":"ENSG00000122877","uniprot":"P11161","entrez":"1959","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Joseph L.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1988, \"Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with 'zinc-binding finger' structure\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3140236/","biology":"Sequence-specific DNA-binding transcription factor. Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin. Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation. Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2. Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres. Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain. Location: Nucleus (UniProt). Locus 10q21.3 (HGNC).","whereFound":["Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)"],"targetClass":"oncogene","prevalence":[]},{"id":"ehbp1","kind":"target","name":"EHBP1","aka":["EH domain binding protein 1","EH domain-binding protein 1","KIAA0903","NACSIN"],"tldr":"EHBP1 (EH domain-binding protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"May play a role in actin reorganisation. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.18, genetic association 0.61, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29144","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29144"},{"label":"UniProt Q8NDI1","url":"https://www.uniprot.org/uniprotkb/Q8NDI1/entry"},{"label":"NCBI Gene 23301","url":"https://www.ncbi.nlm.nih.gov/gene/23301"},{"label":"Ensembl ENSG00000115504","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115504"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EHBP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:29144","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29144","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NDI1","url":"https://www.uniprot.org/uniprotkb/Q8NDI1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000115504","url":"https://platform.opentargets.org/target/ENSG00000115504/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: prostate cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:29144","ensembl":"ENSG00000115504","uniprot":"Q8NDI1","entrez":"23301","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10048485/","biology":"May play a role in actin reorganisation. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking. Required for perinuclear sorting and insulin-regulated recycling of SLC2A4/GLUT4 in adipocytes. Location: Cytoplasm; Membrane; Endosome (UniProt). Locus 2p15 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.54 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"eif1ax","kind":"target","name":"EIF1AX","aka":["eukaryotic translation initiation factor 1A X-linked","Eukaryotic translation initiation factor 1A, X-chromosomal","eIF-1A","eIF-4C","EIF4C","EIF1A"],"tldr":"EIF1AX (Eukaryotic translation initiation factor 1A, X-chromosomal) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Lung cancer, Prostate cancer and 4 more.","summary":"Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5'-untranslated region, and locates the initiation codon. This protein enhances formation of the cap-proximal complex. Together with EIF1, facilitates scanning, start codon recognition, promotion of the assembly of 48S complex at the initiation codon (43S PIC becomes 48S PIC after the start codon is reached), and dissociation of aberrant complexes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.81, genetic association 0.00, somatic mutation 0.74). IntOGen calls it a driver in 7 cohorts (5 activating, 2 loss-of-function), covering Lung, Prostate Adenocarcinoma, Cutaneous Melanoma, Endometrial Carcinoma, Uveal Melanoma, Well-Differentiated Thyroid Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3250"},{"label":"UniProt P47813","url":"https://www.uniprot.org/uniprotkb/P47813/entry"},{"label":"NCBI Gene 1964","url":"https://www.ncbi.nlm.nih.gov/gene/1964"},{"label":"Ensembl ENSG00000173674","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173674"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["endometrial","lung-cancer","prostate","thyroid","uveal-melanoma","melanoma","papillary-thyroid-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EIF1AX","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3250","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P47813","url":"https://www.uniprot.org/uniprotkb/P47813/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EIF1AX","url":"https://civicdb.org/features/1646","note":"1 evidence items, 0 assertions, 1 variants; diseases: Uveal Melanoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000173674","url":"https://platform.opentargets.org/target/ENSG00000173674/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"},{"label":"IntOGen EIF1AX","url":"https://www.intogen.org/search?gene=EIF1AX","note":"driver in 7 cohorts (Act 5, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA EIF1AX: RNA low tissue specificity; no normal tissue stained high; highest cancer staining testis cancer (5 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Endometrial cancer, Lung cancer (all types), Prostate cancer, Thyroid cancer, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P47813","url":"https://www.uniprot.org/uniprotkb/P47813/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EIF1AX","url":"https://civicdb.org/features/1646","note":"1 evidence items, 0 assertions, 1 variants; diseases: Uveal Melanoma (GraphQL API, CC0)"},{"label":"IntOGen EIF1AX","url":"https://www.intogen.org/search?gene=EIF1AX","note":"driver in 7 cohorts (Act 5, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas EIF1AX tissue","url":"https://www.proteinatlas.org/ENSG00000173674-EIF1AX/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000173674 associations","url":"https://platform.opentargets.org/target/ENSG00000173674/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3250","ensembl":"ENSG00000173674","uniprot":"P47813","entrez":"1964","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dever T.E. et al, J. Biol. Chem, 1994, \"Determination of the amino acid sequence of rabbit, human, and wheat germ protein synthesis factor eIF-4C by cloning and chemical sequencing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8106356/","biology":"Component of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans mRNA 5'-untranslated region, and locates the initiation codon. This protein enhances formation of the cap-proximal complex. Together with EIF1, facilitates scanning, start codon recognition, promotion of the assembly of 48S complex at the initiation codon (43S PIC becomes 48S PIC after the start codon is reached), and dissociation of aberrant complexes. After start codon location, together with EIF5B orients the initiator methionine-tRNA in a conformation that allows 60S ribosomal subunit joining to form the 80S initiation complex. Is released after 80S initiation complex formation, just after GTP hydrolysis by EIF5B, and before release of EIF5B. Its globular part is located in the A site of the 40S ribosomal subunit. Location: Cytoplasm (UniProt). Locus Xp22.12 (HGNC).","whereFound":["Endometrial cancer: IntOGen driver in 2 cohorts (UCEC)","Lung cancer: IntOGen driver in 1 cohort (LUNG)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Uveal melanoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (UM)","Melanoma: IntOGen driver in 1 cohort (SKCM)"],"targetClass":"oncogene","prevalence":[]},{"id":"eif2ak3","kind":"target","name":"EIF2AK3","aka":["eukaryotic translation initiation factor 2 alpha kinase 3","Eukaryotic translation initiation factor 2-alpha kinase 3"],"tldr":"EIF2AK3 (Eukaryotic translation initiation factor 2-alpha kinase 3) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress, such as unfolded protein response (UPR). Key effector of the integrated stress response (ISR) to unfolded proteins: EIF2AK3/PERK specifically recognises and binds misfolded proteins, leading to its activation and EIF2S1/eIF-2-alpha phosphorylation. EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activators ATF4 and QRICH1, and hence allowing ATF4- and QRICH1-mediated reprogramming.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.83, animal model 0.48, genetic association 0.08).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3255","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3255"},{"label":"UniProt Q9NZJ5","url":"https://www.uniprot.org/uniprotkb/Q9NZJ5/entry"},{"label":"NCBI Gene 9451","url":"https://www.ncbi.nlm.nih.gov/gene/9451"},{"label":"Ensembl ENSG00000172071","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172071"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EIF2AK3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3255","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3255","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZJ5","url":"https://www.uniprot.org/uniprotkb/Q9NZJ5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172071","url":"https://platform.opentargets.org/target/ENSG00000172071/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3255","ensembl":"ENSG00000172071","uniprot":"Q9NZJ5","entrez":"9451","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shi et al, J. Biol. Chem, 1999, \"Characterization of a mutant pancreatic eIF-2alpha kinase, PEK, and co-localization with somatostatin in islet delta cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10026192/","biology":"Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress, such as unfolded protein response (UPR). Key effector of the integrated stress response (ISR) to unfolded proteins: EIF2AK3/PERK specifically recognises and binds misfolded proteins, leading to its activation and EIF2S1/eIF-2-alpha phosphorylation. EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activators ATF4 and QRICH1, and hence allowing ATF4- and QRICH1-mediated reprogramming. The EIF2AK3/PERK-mediated unfolded protein response increases mitochondrial oxidative phosphorylation by promoting ATF4-mediated expression of COX7A2L/SCAF1, thereby increasing formation of respiratory chain supercomplexes. In contrast to most subcellular compartments, mitochondria are protected from the EIF2AK3/PERK-mediated unfolded protein response due to EIF2AK3/PERK inhibition by ATAD3A at mitochondria-endoplasmic reticulum contact sites. In addition to EIF2S1/eIF-2-alpha, also phosphorylates NFE2L2/NRF2 in response to stress, promoting release of NFE2L2/NRF2 from the BCR(KEAP1) complex, leading to nuclear accumulation and activation of NFE2L2/NRF2. Location: Endoplasmic reticulum membrane (UniProt). Locus 2p11.2 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"eif3e","kind":"target","name":"EIF3E","aka":["eukaryotic translation initiation factor 3 subunit E","Eukaryotic translation initiation factor 3 subunit E","eIF3-p48","INT6","EIF3S6"],"tldr":"EIF3E (Eukaryotic translation initiation factor 3 subunit E) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Cervical cancer, Breast cancer and Lung cancer.","summary":"Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.17, somatic mutation 0.81). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Cervical Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3277","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3277"},{"label":"UniProt P60228","url":"https://www.uniprot.org/uniprotkb/P60228/entry"},{"label":"NCBI Gene 3646","url":"https://www.ncbi.nlm.nih.gov/gene/3646"},{"label":"Ensembl ENSG00000104408","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104408"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["cervical","breast-cancer","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EIF3E","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3277","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3277","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P60228","url":"https://www.uniprot.org/uniprotkb/P60228/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104408","url":"https://platform.opentargets.org/target/ENSG00000104408/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: breast cancer 0.53, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen EIF3E","url":"https://www.intogen.org/search?gene=EIF3E","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3277","ensembl":"ENSG00000104408","uniprot":"P60228","entrez":"3646","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Desbois et al, Science, 1996, \"Exclusion of Int-6 from PML nuclear bodies by binding to the HTLV-I Tax oncoprotein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8688078/","biology":"Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression. Required for nonsense-mediated mRNA decay (NMD); may act in conjunction with UPF2 to divert mRNAs from translation to the NMD pathway. Location: Cytoplasm; Nucleus, PML body (UniProt). Locus 8q23.1 (HGNC).","whereFound":["Cervical cancer: IntOGen driver in 1 cohort (CESC)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)"],"targetClass":"oncogene","prevalence":[]},{"id":"eif4a1","kind":"target","name":"EIF4A1","aka":["eukaryotic translation initiation factor 4A1","Eukaryotic initiation factor 4A-I","DDX2A","EIF-4A","EIF4A"],"tldr":"EIF4A1 (Eukaryotic initiation factor 4A-I) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Burkitt lymphoma.","summary":"ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon. As a result, promotes cell proliferation and growth.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3282","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3282"},{"label":"UniProt P60842","url":"https://www.uniprot.org/uniprotkb/P60842/entry"},{"label":"NCBI Gene 1973","url":"https://www.ncbi.nlm.nih.gov/gene/1973"},{"label":"Ensembl ENSG00000161960","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000161960"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EIF4A1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3282","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3282","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P60842","url":"https://www.uniprot.org/uniprotkb/P60842/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EIF4A1","url":"https://civicdb.org/features/1651","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists EIF4A1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA EIF4A1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining testis cancer (3 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EIF4A1 tissue","url":"https://www.proteinatlas.org/ENSG00000161960-EIF4A1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000161960 associations","url":"https://platform.opentargets.org/target/ENSG00000161960/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3282","ensembl":"ENSG00000161960","uniprot":"P60842","entrez":"1973","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kim N.-S. et al, Nucleic Acids Res, 1993, \"Nucleotide sequence of human cDNA encoding eukaryotic initiation factor 4AI\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8493113/","biology":"ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon. As a result, promotes cell proliferation and growth. Location: Cytoplasm, perinuclear region; Cell membrane; Cytoplasm, Stress granule (UniProt). Locus 17p13.1 (HGNC).","whereFound":["Burkitt lymphoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"eif4a2","kind":"target","name":"EIF4A2","aka":["eukaryotic translation initiation factor 4A2","Eukaryotic initiation factor 4A-II","DDX2B","EIF4A","BM-010","EIF4F"],"tldr":"EIF4A2 (Eukaryotic initiation factor 4A-II) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer.","summary":"ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3284","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3284"},{"label":"UniProt Q14240","url":"https://www.uniprot.org/uniprotkb/Q14240/entry"},{"label":"NCBI Gene 1974","url":"https://www.ncbi.nlm.nih.gov/gene/1974"},{"label":"Ensembl ENSG00000156976","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156976"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EIF4A2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3284","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3284","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14240","url":"https://www.uniprot.org/uniprotkb/Q14240/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen EIF4A2","url":"https://www.intogen.org/search?gene=EIF4A2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3284","ensembl":"ENSG00000156976","uniprot":"Q14240","entrez":"1974","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sudo et al, Cytogenet. Cell Genet, 1995, \"Isolation and mapping of the human EIF4A2 gene homologous to the murine protein synthesis initiation factor 4A-II gene Eif4a2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8521730/","biology":"ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon. Locus 3q27.3 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"eif4ebp1","kind":"target","name":"EIF4EBP1","aka":["eukaryotic translation initiation factor 4E binding protein 1","Eukaryotic translation initiation factor 4E-binding protein 1","PHAS-I","4E-BP1"],"tldr":"EIF4EBP1 (Eukaryotic translation initiation factor 4E-binding protein 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Gastric & gastro-oesophageal junction cancer.","summary":"Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Everolimus, MTOR Kinase Inhibitor PP242, WYE354 and Dactolisib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3288","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3288"},{"label":"UniProt Q13541","url":"https://www.uniprot.org/uniprotkb/Q13541/entry"},{"label":"NCBI Gene 1978","url":"https://www.ncbi.nlm.nih.gov/gene/1978"},{"label":"Ensembl ENSG00000187840","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187840"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EIF4EBP1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3288","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3288","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13541","url":"https://www.uniprot.org/uniprotkb/Q13541/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EIF4EBP1","url":"https://civicdb.org/features/1655","note":"2 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer, Gastric Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EIF4EBP1: RNA tissue enhanced (pancreas 310 nTPM); high antibody staining in 11 normal tissues; highest cancer staining testis cancer (12 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EIF4EBP1 tissue","url":"https://www.proteinatlas.org/ENSG00000187840-EIF4EBP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187840 associations","url":"https://platform.opentargets.org/target/ENSG00000187840/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3288","ensembl":"ENSG00000187840","uniprot":"Q13541","entrez":"1978","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pause et al, Nature, 1994, \"Insulin-dependent stimulation of protein synthesis by phosphorylation of a regulator of 5'-cap function\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7935836/","biology":"Repressor of translation initiation that regulates EIF4E activity by preventing its assembly into the eIF4F complex: hypophosphorylated form competes with EIF4G1/EIF4G3 and strongly binds to EIF4E, leading to repress translation. In contrast, hyperphosphorylated form dissociates from EIF4E, allowing interaction between EIF4G1/EIF4G3 and EIF4E, leading to initiation of translation. Mediates the regulation of protein translation by hormones, growth factors and other stimuli that signal through the MAP kinase and mTORC1 pathways. Location: Cytoplasm; Nucleus (UniProt). Locus 8p11.23 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"elac2","kind":"target","name":"ELAC2","aka":["elaC ribonuclease Z 2","Zinc phosphodiesterase ELAC protein 2","FLJ10530","HPC2"],"tldr":"ELAC2 (Zinc phosphodiesterase ELAC protein 2) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA. Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.74, animal model 0.70, genetic association 0.84, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14198","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14198"},{"label":"UniProt Q9BQ52","url":"https://www.uniprot.org/uniprotkb/Q9BQ52/entry"},{"label":"NCBI Gene 60528","url":"https://www.ncbi.nlm.nih.gov/gene/60528"},{"label":"Ensembl ENSG00000006744","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000006744"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ELAC2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:14198","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14198","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BQ52","url":"https://www.uniprot.org/uniprotkb/Q9BQ52/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000006744","url":"https://platform.opentargets.org/target/ENSG00000006744/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: prostate cancer 0.74 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:14198","ensembl":"ENSG00000006744","uniprot":"Q9BQ52","entrez":"60528","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tavtigian S.V. et al, Nat. Genet, 2001, \"A candidate prostate cancer susceptibility gene at chromosome 17p\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11175785/","biology":"Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA. Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly. Location: Mitochondrion; Mitochondrion matrix, mitochondrion nucleoid; Nucleus (UniProt). Locus 17p12 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.74 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"elf3","kind":"target","name":"ELF3","aka":["E74 like ETS transcription factor 3","ETS-related transcription factor Elf-3","EPR-1","ESE-1"],"tldr":"ELF3 (ETS-related transcription factor Elf-3) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Colorectal cancer and Biliary tract cancer.","summary":"Transcriptional activator that binds and transactivates ETS sequences containing the consensus nucleotide core sequence GGA[AT]. Acts synergistically with POU2F3 to transactivate the SPRR2A promoter and with RUNX1 to transactivate the ANGPT1 promoter. Also transactivates collagenase, CCL20, CLND7, FLG, KRT8, NOS2, PTGS2, SPRR2B, TGFBR2 and TGM3 promoters.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.98, animal model 0.27, genetic association 0.06, somatic mutation 0.78). IntOGen calls it a driver in 9 cohorts (4 activating, 4 loss-of-function), covering Bladder Urothelial Carcinoma, Cholangiocarcinoma, Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3318","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3318"},{"label":"UniProt P78545","url":"https://www.uniprot.org/uniprotkb/P78545/entry"},{"label":"NCBI Gene 1999","url":"https://www.ncbi.nlm.nih.gov/gene/1999"},{"label":"Ensembl ENSG00000163435","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163435"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","colorectal","cholangiocarcinoma","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-nakamura-biliary-genomic-spectra-nat-genet-2015","paper-pandey-gallbladder-elf3-nat-commun-2020"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Gallbladder cancer: most ELF3 alterations are frameshifts that generate T-cell-activating neoantigens, proposed as vaccine candidates (Pandey 2020)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ELF3","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3318","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3318","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78545","url":"https://www.uniprot.org/uniprotkb/P78545/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163435","url":"https://platform.opentargets.org/target/ENSG00000163435/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: urinary bladder cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen ELF3","url":"https://www.intogen.org/search?gene=ELF3","note":"driver in 9 cohorts (Act 4, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3318","ensembl":"ENSG00000163435","uniprot":"P78545","entrez":"1999","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Oettgen et al, Mol. Cell. Biol, 1997, \"Isolation and characterization of a novel epithelium-specific transcription factor, ESE-1, a member of the ets family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9234700/","biology":"Transcriptional activator that binds and transactivates ETS sequences containing the consensus nucleotide core sequence GGA[AT]. Acts synergistically with POU2F3 to transactivate the SPRR2A promoter and with RUNX1 to transactivate the ANGPT1 promoter. Also transactivates collagenase, CCL20, CLND7, FLG, KRT8, NOS2, PTGS2, SPRR2B, TGFBR2 and TGM3 promoters. Represses KRT4 promoter activity. Involved in mediating vascular inflammation. May play an important role in epithelial cell differentiation and tumorigenesis. Location: Cytoplasm; Nucleus (UniProt). Locus 1q32.1 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.56 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 6 cohorts (BLCA)","Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Biliary tract cancer: IntOGen driver in 2 cohorts (CHOL)","Gallbladder cancer: frameshift and truncating mutation about 9%"],"targetClass":"transcription","prevalence":[{"cancerId":"gallbladder","pct":9,"measure":"Frameshift and truncating mutation","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Mutation in 21 of 244 samples, 8.6%, in cBioPortal gbc_mskcc_2022; a significantly altered gene across 260 biliary cancers (Nakamura 2015) and across 167 gallbladder cancers, where most alterations were frameshifts yielding T-cell-activating neoantigens (Pandey 2020)."}]},{"id":"elf4","kind":"target","name":"ELF4","aka":["E74 like ETS transcription factor 4","ETS-related transcription factor Elf-4"],"tldr":"ELF4 (ETS-related transcription factor Elf-4) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Skin cancer and Acute myeloid leukaemia.","summary":"Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the haematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.00, somatic mutation 0.85). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Acute Myeloid Leukaemia, Low-Grade Glioma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3319","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3319"},{"label":"UniProt Q99607","url":"https://www.uniprot.org/uniprotkb/Q99607/entry"},{"label":"NCBI Gene 2000","url":"https://www.ncbi.nlm.nih.gov/gene/2000"},{"label":"Ensembl ENSG00000102034","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102034"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ELF4","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3319","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3319","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99607","url":"https://www.uniprot.org/uniprotkb/Q99607/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000102034","url":"https://platform.opentargets.org/target/ENSG00000102034/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: skin cancer 0.51, breast cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ELF4","url":"https://www.intogen.org/search?gene=ELF4","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3319","ensembl":"ENSG00000102034","uniprot":"Q99607","entrez":"2000","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miyazaki et al, Oncogene, 1996, \"MEF, a novel transcription factor with an Elf-1 like DNA binding domain but distinct transcriptional activating properties\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8895518/","biology":"Transcriptional activator that binds to DNA sequences containing the consensus 5'-WGGA-3'. Transactivates promoters of the haematopoietic growth factor genes CSF2, IL3, IL8, and of the bovine lysozyme gene. Acts synergistically with RUNX1 to transactivate the IL3 promoter. Transactivates the PRF1 promoter in natural killer (NK) cells and CD8+ T cells. Plays a role in the development and function of NK and NK T-cells and in innate immunity. Controls the proliferation and homing of CD8+ T-cells via the Kruppel-like factors KLF4 and KLF2. Location: Nucleus, PML body (UniProt). Locus Xq26.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"elk4","kind":"target","name":"ELK4","aka":["ETS transcription factor ELK4","ETS domain-containing protein Elk-4","SAP1"],"tldr":"ELK4 (ETS domain-containing protein Elk-4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Head and neck squamous cell carcinoma and Skin cancer.","summary":"Involved in both transcriptional activation and repression. Interaction with SIRT7 leads to recruitment and stabilisation of SIRT7 at promoters, followed by deacetylation of histone H3 at 'Lys-18' (H3K18Ac) and subsequent transcription repression. Forms a ternary complex with the serum response factor (SRF).\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.90, animal model 0.28, genetic association 0.00, somatic mutation 0.81). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Head and Neck Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3326","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3326"},{"label":"UniProt P28324","url":"https://www.uniprot.org/uniprotkb/P28324/entry"},{"label":"NCBI Gene 2005","url":"https://www.ncbi.nlm.nih.gov/gene/2005"},{"label":"Ensembl ENSG00000158711","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158711"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["head-and-neck","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ELK4","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3326","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3326","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P28324","url":"https://www.uniprot.org/uniprotkb/P28324/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000158711","url":"https://platform.opentargets.org/target/ENSG00000158711/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: skin cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ELK4","url":"https://www.intogen.org/search?gene=ELK4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3326","ensembl":"ENSG00000158711","uniprot":"P28324","entrez":"2005","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dalton et al, Cell, 1992, \"Characterization of SAP-1, a protein recruited by serum response factor to the c-fos serum response element\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1339307/","biology":"Involved in both transcriptional activation and repression. Interaction with SIRT7 leads to recruitment and stabilisation of SIRT7 at promoters, followed by deacetylation of histone H3 at 'Lys-18' (H3K18Ac) and subsequent transcription repression. Forms a ternary complex with the serum response factor (SRF). Requires DNA-bound SRF for ternary complex formation and makes extensive DNA contacts to the 5'side of SRF, but does not bind DNA autonomously. Location: Nucleus (UniProt). Locus 1q32.1 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)"],"targetClass":"oncogene","prevalence":[]},{"id":"ell","kind":"target","name":"ELL","aka":["elongation factor for RNA polymerase II","RNA polymerase II elongation factor ELL","Men","ELL1","PPP1R68","C19orf17"],"tldr":"ELL (RNA polymerase II elongation factor ELL) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Ovarian cancer, Breast cancer, Skin cancer and 1 more.","summary":"Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.53, genetic association 0.27, somatic mutation 0.98). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Melanoma, Ovarian Epithelial Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23114","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23114"},{"label":"UniProt P55199","url":"https://www.uniprot.org/uniprotkb/P55199/entry"},{"label":"NCBI Gene 8178","url":"https://www.ncbi.nlm.nih.gov/gene/8178"},{"label":"Ensembl ENSG00000105656","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105656"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["ovarian","breast-cancer","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ELL","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:23114","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23114","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55199","url":"https://www.uniprot.org/uniprotkb/P55199/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105656","url":"https://platform.opentargets.org/target/ENSG00000105656/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: skin cancer 0.51, breast cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen ELL","url":"https://www.intogen.org/search?gene=ELL","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:23114","ensembl":"ENSG00000105656","uniprot":"P55199","entrez":"8178","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Thirman M.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Cloning of ELL, a gene that fuses to MLL in a t(11;19)(q23;p13.1) in acute myeloid leukemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7991593/","biology":"Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Elongation factor component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III. Specifically required for stimulating the elongation step of RNA polymerase II- and III-dependent snRNA gene transcription. ELL also plays an early role before its assembly into in the SEC complex by stabilising RNA polymerase II recruitment/initiation and entry into the pause site. Required to stabilise the pre-initiation complex and early elongation. Location: Nucleus; Nucleus speckle; Nucleus, Cajal body (UniProt). Locus 19p13.11 (HGNC).","whereFound":["Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"transcription","prevalence":[]},{"id":"eln","kind":"target","name":"ELN","aka":["elastin","Elastin"],"tldr":"ELN (Elastin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer and Cutaneous squamous cell carcinoma.","summary":"Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilising arterial structure by regulating proliferation and organisation of vascular smooth muscle.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Cutaneous Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3327","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3327"},{"label":"UniProt P15502","url":"https://www.uniprot.org/uniprotkb/P15502/entry"},{"label":"NCBI Gene 2006","url":"https://www.ncbi.nlm.nih.gov/gene/2006"},{"label":"Ensembl ENSG00000049540","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000049540"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer","cutaneous-scc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ELN","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3327","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3327","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15502","url":"https://www.uniprot.org/uniprotkb/P15502/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ELN","url":"https://www.intogen.org/search?gene=ELN","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3327","ensembl":"ENSG00000049540","uniprot":"P15502","entrez":"2006","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Indik et al, Proc. Natl. Acad. Sci. U.S.A, 1987, \"Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3039501/","biology":"Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilising arterial structure by regulating proliferation and organisation of vascular smooth muscle. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 7q11.23 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Cutaneous squamous cell carcinoma: IntOGen driver in 1 cohort (CSCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"eef2","kind":"target","name":"Elongation factor 2 (EEF2)","aka":[],"tldr":"EEF2 is the ribosome's motor for moving along messenger RNA; the CML drug omacetaxine stalls protein production by acting at this step.","summary":"Eukaryotic elongation factor 2 (EEF2) drives the translocation step of protein synthesis, moving the ribosome one codon along the messenger RNA after each amino acid is added. Omacetaxine mepesuccinate (homoharringtonine) binds the ribosome's A-site and blocks the first elongation steps, so short-lived proteins such as BCR-ABL1 and MCL1 fall quickly; the drug is approved for chronic myeloid leukaemia after two tyrosine kinase inhibitors.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/EEF2","links":[{"label":"UniProt P13639: EEF2","url":"https://www.uniprot.org/uniprotkb/P13639/entry"},{"label":"HGNC:3214 EEF2","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3214"},{"label":"ChEMBL target CHEMBL1795108","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL1795108"}],"tags":[],"related":[],"cancers":["cml"],"sections":[],"technologies":[],"targets":[],"drugs":["omacetaxine"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"EEF2","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists EEF2 among essential proteins and finds the RNA at low tissue specificity; the 2 medicines aimed at it (Omacetaxine mepesuccinate, Plitidepsin) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA EEF2: RNA low tissue specificity; high antibody staining in 33 normal tissues; highest cancer staining endometrial cancer (11 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); approvals of single-target medicines aimed at it also list Multiple myeloma, not counted; Open Targets associates it with 2 specific cancer types at or above 0.5 (primary cutaneous T-cell non-Hodgkin lymphoma, hairy cell leukemia); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EEF2 tissue","url":"https://www.proteinatlas.org/ENSG00000167658-EEF2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167658 associations","url":"https://platform.opentargets.org/target/ENSG00000167658/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3214","ensembl":"ENSG00000167658","uniprot":"P13639","entrez":"1938","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rapp et al, Biol. Chem. Hoppe-Seyler, 1988, \"Cloning and sequence analysis of a cDNA from human ovarian granulosa cells encoding the C-terminal part of human elongation factor 2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2840927/","biology":"A GTPase of the translation machinery; its activity is switched off by phosphorylation from eEF2 kinase under stress and starvation, one of the ways cells throttle protein synthesis.","whereFound":["All nucleated cells (housekeeping translation factor)","Highly active in rapidly dividing leukaemia and lymphoma cells"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (protein synthesis); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"elp1","kind":"target","name":"ELP1","aka":["elongator acetyltransferase complex subunit 1","Elongator complex protein 1","TOT1","IKI3","IKBKAP"],"tldr":"ELP1 (Elongator complex protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Medulloblastoma.","summary":"Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine). The elongator complex catalyses the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5959","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5959"},{"label":"UniProt O95163","url":"https://www.uniprot.org/uniprotkb/O95163/entry"},{"label":"NCBI Gene 8518","url":"https://www.ncbi.nlm.nih.gov/gene/8518"},{"label":"Ensembl ENSG00000070061","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000070061"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ELP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5959","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5959","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95163","url":"https://www.uniprot.org/uniprotkb/O95163/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000070061","url":"https://platform.opentargets.org/target/ENSG00000070061/associations","note":"per-cancer scores at or above 0.5: medulloblastoma 0.72 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5959","ensembl":"ENSG00000070061","uniprot":"O95163","entrez":"8518","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cohen et al, Nature, 1998, \"IKAP is a scaffold protein of the IkappaB kinase complex\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9751059/","biology":"Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine). The elongator complex catalyses the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation. ELP1 binds to tRNA, mediating interaction of the elongator complex with tRNA. May act as a scaffold protein that assembles active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK). Location: Cytoplasm; Nucleus (UniProt). Locus 9q31.3 (HGNC).","whereFound":["Medulloblastoma: Open Targets association 0.72 with medulloblastoma (MONDO_0007959)"],"targetClass":"other","prevalence":[]},{"id":"elp4","kind":"target","name":"ELP4","aka":["elongator acetyltransferase complex subunit 4","Elongator complex protein 4","PAXNEB","C11orf19"],"tldr":"ELP4 (Elongator complex protein 4) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Renal cell carcinoma.","summary":"Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine). The elongator complex catalyses the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.37, animal model 0.57, genetic association 0.80).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1171","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1171"},{"label":"UniProt Q96EB1","url":"https://www.uniprot.org/uniprotkb/Q96EB1/entry"},{"label":"NCBI Gene 26610","url":"https://www.ncbi.nlm.nih.gov/gene/26610"},{"label":"Ensembl ENSG00000109911","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109911"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ELP4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1171","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1171","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96EB1","url":"https://www.uniprot.org/uniprotkb/Q96EB1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000109911","url":"https://platform.opentargets.org/target/ENSG00000109911/associations","note":"association with cancer (MONDO_0004992) 0.51; per-cancer scores at or above 0.5: renal cell carcinoma 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1171","ensembl":"ENSG00000109911","uniprot":"Q96EB1","entrez":"26610","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wiemann et al, Genome Res, 2001, \"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11230166/","biology":"Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine). The elongator complex catalyses the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs. Location: Cytoplasm; Nucleus (UniProt). Locus 11p13 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.50 with renal cell carcinoma (MONDO_0005086)"],"targetClass":"other","prevalence":[]},{"id":"eml4","kind":"target","name":"EML4","aka":["EMAP like 4","Echinoderm microtubule-associated protein-like 4","ROPP120","ELP120","C2orf2"],"tldr":"EML4 (Echinoderm microtubule-associated protein-like 4) is a gene. The public catalogues list it as a drug target and a fusion partner, and an approved or late-stage drug is recorded against it. Tied to Lung cancer, Thyroid cancer and Non-small-cell lung cancer.","summary":"Essential for the formation and stability of microtubules (MTs). Required for the organisation of the mitotic spindle and for the proper attachment of kinetochores to MTs. Promotes the recruitment of NUDC to the mitotic spindle for mitotic progression.\n\nOpen Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes clinical 0.99, affected pathway 0.94, literature 0.98, genetic association 0.41, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1316","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1316"},{"label":"UniProt Q9HC35","url":"https://www.uniprot.org/uniprotkb/Q9HC35/entry"},{"label":"NCBI Gene 27436","url":"https://www.ncbi.nlm.nih.gov/gene/27436"},{"label":"Ensembl ENSG00000143924","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143924"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer","thyroid","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EML4","role":["drug-target","fusion-partner"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:1316","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1316","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HC35","url":"https://www.uniprot.org/uniprotkb/Q9HC35/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143924","url":"https://platform.opentargets.org/target/ENSG00000143924/associations","note":"association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.75, thyroid cancer 0.55, lung cancer 0.76 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA EML4: RNA low tissue specificity; high antibody staining in 26 normal tissues; highest cancer staining colorectal cancer (9 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Thyroid cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (non-small cell lung carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9HC35","url":"https://www.uniprot.org/uniprotkb/Q9HC35/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Human Protein Atlas EML4 tissue","url":"https://www.proteinatlas.org/ENSG00000143924-EML4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143924 associations","url":"https://platform.opentargets.org/target/ENSG00000143924/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1316","ensembl":"ENSG00000143924","uniprot":"Q9HC35","entrez":"27436","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Heidebrecht H.J. et al, Genomics, 2000, \"Cloning and localization of C2orf2(ropp120), a previously unknown WD repeat protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10995578/","biology":"Essential for the formation and stability of microtubules (MTs). Required for the organisation of the mitotic spindle and for the proper attachment of kinetochores to MTs. Promotes the recruitment of NUDC to the mitotic spindle for mitotic progression. Location: Cytoplasm, cytoskeleton; Cytoplasm; Cytoplasm, cytoskeleton, spindle; Cytoplasm, cytoskeleton, microtubule organizing center (UniProt). Locus 2p21 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.76 with lung cancer (MONDO_0008903)","Thyroid cancer: Open Targets association 0.55 with thyroid cancer (MONDO_0002108)","Non-small-cell lung cancer: Open Targets association 0.75 with non-small cell lung carcinoma (MONDO_0005233)"],"targetClass":"other","prevalence":[]},{"id":"emsy","kind":"target","name":"EMSY","aka":["EMSY transcriptional repressor, BRCA2 interacting","BRCA2-interacting transcriptional repressor EMSY","C11orf30"],"tldr":"EMSY (BRCA2-interacting transcriptional repressor EMSY) is a protein that switches other genes on and off. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer.","summary":"Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. Mediates ligand-dependent transcriptional activation by nuclear hormone receptors.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Bevacizumab, Paclitaxel, Carboplatin and Talazoparib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18071","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18071"},{"label":"UniProt Q7Z589","url":"https://www.uniprot.org/uniprotkb/Q7Z589/entry"},{"label":"NCBI Gene 56946","url":"https://www.ncbi.nlm.nih.gov/gene/56946"},{"label":"Ensembl ENSG00000158636","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158636"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Acral Lentiginous Melanoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EMSY","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18071","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18071","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z589","url":"https://www.uniprot.org/uniprotkb/Q7Z589/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EMSY","url":"https://civicdb.org/features/13556","note":"2 evidence items, 0 assertions, 2 variants; diseases: Ovarian Serous Carcinoma, Acral Lentiginous Melanoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA EMSY: RNA low tissue specificity; high antibody staining in 17 normal tissues; highest cancer staining colorectal cancer (7 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EMSY tissue","url":"https://www.proteinatlas.org/ENSG00000158636-EMSY/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000158636 associations","url":"https://platform.opentargets.org/target/ENSG00000158636/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18071","ensembl":"ENSG00000158636","uniprot":"Q7Z589","entrez":"56946","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Li et al, 2000, \"A novel gene expressed in human liver non-tumor tissues\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q7Z589/entry","biology":"Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. Mediates ligand-dependent transcriptional activation by nuclear hormone receptors. Location: Nucleus (UniProt). Locus 11q13.5 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"eomes","kind":"target","name":"EOMES","aka":["eomesodermin","Eomesodermin homolog","TBR2"],"tldr":"EOMES (Eomesodermin homolog) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Non-Hodgkin lymphoma.","summary":"Functions as a transcriptional activator playing a crucial role during development. Functions in trophoblast differentiation and later in gastrulation, regulating both mesoderm delamination and endoderm specification. Plays a role in brain development being required for the specification and the proliferation of the intermediate progenitor cells and their progeny in the cerebral cortex.\n\nOpen Targets scores its association with cancer at 0.49 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.60).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3372","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3372"},{"label":"UniProt O95936","url":"https://www.uniprot.org/uniprotkb/O95936/entry"},{"label":"NCBI Gene 8320","url":"https://www.ncbi.nlm.nih.gov/gene/8320"},{"label":"Ensembl ENSG00000163508","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163508"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EOMES","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3372","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3372","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95936","url":"https://www.uniprot.org/uniprotkb/O95936/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163508","url":"https://platform.opentargets.org/target/ENSG00000163508/associations","note":"association with cancer (MONDO_0004992) 0.49; per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3372","ensembl":"ENSG00000163508","uniprot":"O95936","entrez":"8320","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kimura et al, Brain Res. Dev. Brain Res, 1999, \"A novel mammalian T-box-containing gene, Tbr2, expressed in mouse developing brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10407135/","biology":"Functions as a transcriptional activator playing a crucial role during development. Functions in trophoblast differentiation and later in gastrulation, regulating both mesoderm delamination and endoderm specification. Plays a role in brain development being required for the specification and the proliferation of the intermediate progenitor cells and their progeny in the cerebral cortex. Required for differentiation and migration of unipolar dendritic brush cells. Also involved in the differentiation of CD8+ T-cells during immune response regulating the expression of lytic effector genes. Location: Nucleus (UniProt). Locus 3p24.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)"],"targetClass":"transcription","prevalence":[]},{"id":"ep300","kind":"target","name":"EP300","aka":["EP300 lysine acetyltransferase","Histone acetyltransferase p300","p300","KAT3B"],"tldr":"EP300 (Histone acetyltransferase p300) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Bladder & urothelial cancer, Head and neck squamous cell carcinoma and 5 more.","summary":"Functions as a histone acetyltransferase and regulates transcription via chromatin remodeling. Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes affected pathway 0.82, literature 0.99, genetic association 0.69, somatic mutation 0.95, animal model 0.59). IntOGen calls it a driver in 30 cohorts (10 activating, 20 loss-of-function), covering Angiosarcoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cervical Squamous Cell Carcinoma, Cholangiocarcinoma, Colorectal Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3373","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3373"},{"label":"UniProt Q09472","url":"https://www.uniprot.org/uniprotkb/Q09472/entry"},{"label":"NCBI Gene 2033","url":"https://www.ncbi.nlm.nih.gov/gene/2033"},{"label":"Ensembl ENSG00000100393","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100393"},{"label":"Horn et al., Blood 2013: MYC, BCL2 and BCL6 rearrangement and expression in 442 RICOVER patients","url":"https://doi.org/10.1182/blood-2012-06-435842"},{"label":"Schmitz et al., N Engl J Med 2018: genetics and pathogenesis of diffuse large B-cell lymphoma (574 biopsies; MCD, BN2, N1, EZB)","url":"https://doi.org/10.1056/NEJMoa1801445"},{"label":"Pasqualucci et al., Nature 2011: inactivating mutations of the acetyltransferase genes CREBBP and EP300 in B-cell lymphoma","url":"https://doi.org/10.1038/nature09730"},{"label":"Morin et al., Nature 2011: frequent mutation of histone-modifying genes in non-Hodgkin lymphoma","url":"https://doi.org/10.1038/nature10351"},{"label":"Pasqualucci et al., Nat Genet 2011: the coding genome of diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/ng.892"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","urothelial","head-and-neck","non-hodgkin-lymphoma","lung-cancer","cervical","neuroendocrine","esophageal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["prostate-cancer-signalling","transcription-addiction","epigenetic-reprogramming"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 10 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 20 cohorts; CIViC holds 2 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, BCL6 and the germinal-centre programme: BCL6 is the master transcriptional repressor of the germinal centre: it switches off the DNA-damage response and the differentiation programme so that a B cell can tolerate deliberate mutation of its own immunoglobulin genes. A lymphoma that keeps BCL6 on keeps a cell in a state where mutation is permitted and apoptosis is suppressed. The protein is normally switched off by acetylation, which is one reason CREBBP and EP300 loss matters here. Frequency: BCL6 rearrangement in 28.7% of 442 diffuse large B-cell lymphomas, the commonest of the three translocations (Horn 2013); BCL6 fusions with NOTCH2 mutations define the BN2 subtype (Schmitz 2018). What it changes about treatment: Nothing yet. There is no approved BCL6 inhibitor or degrader, and the group's prognosis in the genetic classification is comparatively favourable, which is a reason to study de-escalation rather than a reason to change treatment now.","Lymphoma, CREBBP, EP300 and the rest of the chromatin machinery: CREBBP and EP300 are acetyltransferases. Losing one allele lowers the dose of acetylation, which leaves BCL6 acetylated less often and therefore active more often, and leaves p53 acetylated less often and therefore working less well; the same lesion also turns down the enhancers that would let a germinal-centre cell present antigen to T cells. KMT2D, formerly MLL2, writes H3K4 monomethylation at enhancers and is the single most frequently mutated gene in follicular lymphoma. Frequency: Genomic deletion or somatic mutation removing or inactivating the acetyltransferase domain of CREBBP or, more rarely, EP300 in about 39% of diffuse large B-cell lymphoma and 41% of follicular lymphoma, usually on one allele only (Pasqualucci 2011). KMT2D mutated in 32% of diffuse large B-cell lymphoma and 89% of follicular lymphoma in the discovery series, with MEF2B in 11.4% and 13.4% (Morin 2011); the coding genome of diffuse large B-cell lymphoma carries more than 30 clonally represented alterations per case (Pasqualucci 2011, Nat Genet). What it changes about treatment: Not yet. The pairing of CREBBP loss with HDAC3 dependency is the clearest synthetic-lethal hypothesis in B-cell lymphoma and is in trials; no approval depends on a CREBBP result."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EP300","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3373","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3373","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q09472","url":"https://www.uniprot.org/uniprotkb/Q09472/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EP300","url":"https://civicdb.org/features/1704","note":"2 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma, Oesophagus Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000100393","url":"https://platform.opentargets.org/target/ENSG00000100393/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: colorectal cancer 0.74, oesophageal cancer 0.54, urinary bladder cancer 0.65, cervical cancer 0.60, melanoma 0.60, head and neck squamous cell carcinoma 0.62 (GraphQL API, CC0)"},{"label":"IntOGen EP300","url":"https://www.intogen.org/search?gene=EP300","note":"driver in 30 cohorts (Act 10, LoF 20); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA EP300: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining urothelial cancer (6 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Bladder & urothelial cancer, Head and neck squamous cell carcinoma, Lymphoma, Lung cancer (all types), Cervical cancer, Neuroendocrine tumours and more); Open Targets associates it with 4 specific cancer types at or above 0.5 (head and neck squamous cell carcinoma, urinary bladder cancer, cervical squamous cell carcinoma, colorectal cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q09472","url":"https://www.uniprot.org/uniprotkb/Q09472/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EP300","url":"https://civicdb.org/features/1704","note":"2 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma, Oesophagus Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen EP300","url":"https://www.intogen.org/search?gene=EP300","note":"driver in 30 cohorts (Act 10, LoF 20); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas EP300 tissue","url":"https://www.proteinatlas.org/ENSG00000100393-EP300/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100393 associations","url":"https://platform.opentargets.org/target/ENSG00000100393/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3373","ensembl":"ENSG00000100393","uniprot":"Q09472","entrez":"2033","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Eckner et al, Genes Dev, 1994, \"Molecular cloning and functional analysis of the adenovirus E1A-associated 300-kD protein (p300) reveals a protein with properties of a transcriptional adaptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7523245/","biology":"Functions as a histone acetyltransferase and regulates transcription via chromatin remodeling. Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localises at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Mediates acetylation of histone H3 at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac, respectively). Also able to acetylate histone lysine residues that are already monomethylated on the same side chain to form N6-acetyl-N6-methyllysine (Kacme), an epigenetic mark of active chromatin associated with increased transcriptional initiation. Location: Cytoplasm; Nucleus; Chromosome (UniProt). Locus 22q13.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.74 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Bladder & urothelial cancer: Open Targets association 0.65 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 7 cohorts (BLCA, UTUC)","Head and neck squamous cell carcinoma: Open Targets association 0.62 with head and neck squamous cell carcinoma (MONDO_0010150); IntOGen driver in 3 cohorts (HNSC)","Non-Hodgkin lymphoma: Open Targets association 0.62 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Lung cancer: Open Targets association 0.62 with lung cancer (MONDO_0008903)","Cervical cancer: Open Targets association 0.60 with cervical cancer (MONDO_0002974); IntOGen driver in 3 cohorts (CESC)"],"targetClass":"transcription","prevalence":[]},{"id":"epcam","kind":"target","name":"EpCAM","aka":[],"tldr":"An adhesion protein on almost all carcinoma cells and the capture molecule for circulating tumour cell tests; the target of the first bispecific antibody ever approved (catumaxomab, 2009).","summary":"EpCAM (CD326) is expressed on most carcinomas (colorectal, gastric, pancreatic, breast, ovarian, lung) and on circulating tumour cells (CellSearch). Catumaxomab (EpCAM×CD3 trifunctional) was approved in the EU in 2009 for malignant ascites, withdrawn commercially in 2017 and re-approved in 2025; edrecolomab (adjuvant colon) failed in the 1990s; oportuzumab monatox (intravesical, BCG-unresponsive NMIBC) received an FDA CRL in 2021. Solitomab (BiTE) was too toxic because of normal epithelial expression. EpCAM CAR-T and ADCs are being tested in gastric and colorectal cancer, and germline EPCAM deletions cause Lynch syndrome via MSH2 silencing.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/Epithelial_cell_adhesion_molecule","links":[{"label":"EMA: Korjuny (catumaxomab)","url":"https://www.ema.europa.eu/en/medicines/human/EPAR/korjuny"}],"tags":["gap-fill"],"related":[],"cancers":["colorectal","gastric","ovarian","pancreatic","urothelial"],"sections":[],"technologies":["bispecific-antibody","liquid-biopsy","car-t"],"targets":[],"drugs":["catumaxomab"],"companies":[],"institutions":[],"pathways":["mismatch-repair-msi"],"terms":["lynch-syndrome"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Ovarian and urothelial rates are not well characterised by a single figure: the largest series (Spizzo 2011, doi:10.1136/jcp.2011.090274) reports adenocarcinomas as mostly positive but urothelial and squamous carcinomas as frequently EpCAM-negative and recommends IHC before any EpCAM-directed therapy.","Colorectal cancer: deletions of the 3' exons of EPCAM cause Lynch syndrome without any mutation in a mismatch repair gene, by transcriptional read-through that methylates and silences the adjacent MSH2 promoter in EpCAM-expressing tissue (Ligtenberg 2009). EPCAM copy-number analysis is therefore part of a complete Lynch syndrome panel."],"symbol":"EPCAM","role":[],"sources":[],"specificity":"tumour-associated","distribution":"many-types","specificityNote":"Tumour-associated overexpression: 2 cell-killing or cell-finding medicines (Catumaxomab, M701) aim at the antigen, which HPA finds stained high in 12 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA EPCAM: RNA tissue enhanced (intestine 756 nTPM); high antibody staining in 12 normal tissues; highest cancer staining colorectal cancer (12 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Pancreatic ductal adenocarcinoma, Ovarian cancer, Bladder & urothelial cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (Lynch syndrome 8, gastric cancer, Lynch syndrome). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EPCAM tissue","url":"https://www.proteinatlas.org/ENSG00000119888-EPCAM/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas EPCAM pathology","url":"https://www.proteinatlas.org/ENSG00000119888-EPCAM/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000119888 associations","url":"https://platform.opentargets.org/target/ENSG00000119888/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11529","ensembl":"ENSG00000119888","uniprot":"P16422","entrez":"4072","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Strnad et al, Cancer Res, 1989, \"Molecular cloning and characterization of a human adenocarcinoma/epithelial cell surface antigen complementary DNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2463074/","biology":"Type I transmembrane glycoprotein mediating Ca-independent homotypic cell adhesion; regulated intramembrane proteolysis releases EpICD, which co-activates Wnt/β-catenin target genes (c-MYC, cyclin D1).","whereFound":["Colorectal, gastric, pancreatic and biliary adenocarcinoma (>90%)","Breast, ovarian, endometrial and prostate cancer (high)","Circulating tumour cells (capture antigen)","Normal epithelia (basolateral, lower level)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"colorectal","pct":97.7,"measure":"IHC, high-level EpCAM expression (TMA, n=1186)","source":"https://doi.org/10.1038/sj.bjc.6602924","note":"Only 0.4% EpCAM-negative; 92.1% in grade 3 tumours"},{"cancerId":"gastric","pct":90.7,"measure":"IHC, high-level EpCAM expression (TMA, n=473)","source":"https://doi.org/10.1038/sj.bjc.6602924","note":"2.5% EpCAM-negative"},{"cancerId":"pancreatic","pct":78,"measure":"IHC, strong EpCAM expression in pancreatic adenocarcinoma (multi-tumour TMA, 3900 samples)","source":"https://doi.org/10.1016/j.humpath.2003.08.026"}]},{"id":"epha1","kind":"target","name":"EPHA1","aka":["EPH receptor A1","Ephrin type-A receptor 1","EPHT1"],"tldr":"EPHA1 (Ephrin type-A receptor 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer and Neuroendocrine tumours.","summary":"Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.93, animal model 0.43, genetic association 0.00, clinical 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3385","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3385"},{"label":"UniProt P21709","url":"https://www.uniprot.org/uniprotkb/P21709/entry"},{"label":"NCBI Gene 2041","url":"https://www.ncbi.nlm.nih.gov/gene/2041"},{"label":"Ensembl ENSG00000146904","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000146904"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHA1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3385","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3385","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P21709","url":"https://www.uniprot.org/uniprotkb/P21709/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000146904","url":"https://platform.opentargets.org/target/ENSG00000146904/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: thyroid cancer 0.56, neuroendocrine neoplasm 0.55 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EPHA1: RNA group enriched (esophagus 56 nTPM, parathyroid gland 194 nTPM); blood lineage lineage enriched (T-cells 4 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (6 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EPHA1 tissue","url":"https://www.proteinatlas.org/ENSG00000146904-EPHA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000146904 associations","url":"https://platform.opentargets.org/target/ENSG00000146904/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3385","ensembl":"ENSG00000146904","uniprot":"P21709","entrez":"2041","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hirai et al, Science, 1987, \"A novel putative tyrosine kinase receptor encoded by the eph gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2825356/","biology":"Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment to the extracellular matrix inhibiting cell spreading and motility through regulation of ILK and downstream RHOA and RAC. Also plays a role in angiogenesis and regulates cell proliferation. May play a role in apoptosis. Location: Cell membrane (UniProt). Locus 7q34-q35 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.56 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.55 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"kinase","prevalence":[]},{"id":"epha10","kind":"target","name":"EPHA10","aka":["EPH receptor A10","Ephrin type-A receptor 10","FLJ16103","FLJ33655"],"tldr":"EPHA10 (Ephrin type-A receptor 10) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer and Neuroendocrine tumours.","summary":"Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.03, clinical 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19987","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19987"},{"label":"UniProt Q5JZY3","url":"https://www.uniprot.org/uniprotkb/Q5JZY3/entry"},{"label":"NCBI Gene 284656","url":"https://www.ncbi.nlm.nih.gov/gene/284656"},{"label":"Ensembl ENSG00000183317","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183317"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHA10","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:19987","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19987","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5JZY3","url":"https://www.uniprot.org/uniprotkb/Q5JZY3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000183317","url":"https://platform.opentargets.org/target/ENSG00000183317/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: thyroid cancer 0.56, neuroendocrine neoplasm 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EPHA10: RNA tissue enhanced (brain 9 nTPM, intestine 13 nTPM, testis 12 nTPM); no normal tissue stained high; highest cancer staining skin cancer (5 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EPHA10 tissue","url":"https://www.proteinatlas.org/ENSG00000183317-EPHA10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183317 associations","url":"https://platform.opentargets.org/target/ENSG00000183317/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:19987","ensembl":"ENSG00000183317","uniprot":"Q5JZY3","entrez":"284656","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5. Location: Cell membrane; Secreted (UniProt). Locus 1p34.3 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.56 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.54 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"other","prevalence":[]},{"id":"epha2","kind":"target","name":"EphA2 receptor","aka":[],"tldr":"EphA2 is a cell-guidance receptor that many solid tumours overexpress; dasatinib and regorafenib block it among their many kinase targets, and it is being tested as an antibody-drug conjugate and CAR-T target.","summary":"Ephrin type-A receptor 2 helps cells read their neighbours' positions during development and is overexpressed in glioblastoma, ovarian, breast, lung and pancreatic cancers, where ligand-independent signalling promotes invasion. Dasatinib and regorafenib inhibit it as secondary targets. Antibody-drug conjugates and CAR-T cells against EphA2 have reached early trials, notably in glioblastoma.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/EPH_receptor_A2","links":[{"label":"UniProt P29317: EPHA2","url":"https://www.uniprot.org/uniprotkb/P29317/entry"},{"label":"HGNC:3386 EPHA2","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3386"},{"label":"ChEMBL target CHEMBL2068","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2068"}],"tags":[],"related":[],"cancers":["glioblastoma","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":["dasatinib","regorafenib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"EPHA2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal esophagus, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA EPHA2: RNA tissue enhanced (esophagus 143 nTPM); blood lineage lineage enriched (dendritic cells 9 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types), Ovarian cancer); Open Targets associates it with 4 specific cancer types at or above 0.5 (colorectal cancer, chronic myeloid leukemia, acute lymphoblastic leukemia, medullary thyroid gland carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EPHA2 tissue","url":"https://www.proteinatlas.org/ENSG00000142627-EPHA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas EPHA2 pathology","url":"https://www.proteinatlas.org/ENSG00000142627-EPHA2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000142627 associations","url":"https://platform.opentargets.org/target/ENSG00000142627/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3386","ensembl":"ENSG00000142627","uniprot":"P29317","entrez":"1969","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lindberg R.A. et al, Mol. Cell. Biol, 1990, \"cDNA cloning and characterization of eck, an epithelial cell receptor protein-tyrosine kinase in the eph/elk family of protein kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2174105/","biology":"A receptor tyrosine kinase for ephrin-A ligands; ligand binding suppresses growth signalling, while unliganded EphA2 phosphorylated by AKT drives motility.","whereFound":["Glioblastoma, ovarian, breast, lung and pancreatic cancers (overexpressed)","Low in normal adult epithelium"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (EphA2 receptor, over-expressed in many solid tumours without a selecting mutation); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"epha3","kind":"target","name":"EPHA3","aka":["EPH receptor A3","Ephrin type-A receptor 3","HEK4","ETK1","TYRO4"],"tldr":"EPHA3 (Ephrin type-A receptor 3) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver and a tumour suppressor, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours, Thyroid cancer, Breast cancer and 5 more.","summary":"Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes genetic literature 0.30, clinical 0.93, affected pathway 0.61, literature 0.96, genetic association 0.26, somatic mutation 0.47, animal model 0.39). IntOGen calls it a driver in 5 cohorts (3 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Oesophageal Adenocarcinoma, Melanoma, Prostate Adenocarcinoma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3387","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3387"},{"label":"UniProt P29320","url":"https://www.uniprot.org/uniprotkb/P29320/entry"},{"label":"NCBI Gene 2042","url":"https://www.ncbi.nlm.nih.gov/gene/2042"},{"label":"Ensembl ENSG00000044524","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000044524"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["neuroendocrine","thyroid","breast-cancer","esophageal","prostate","gastric","oesophageal-adenocarcinoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHA3","role":["drug-target","oncogene-driver","tumour-suppressor"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3387","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3387","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29320","url":"https://www.uniprot.org/uniprotkb/P29320/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000044524","url":"https://platform.opentargets.org/target/ENSG00000044524/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: thyroid cancer 0.62, neuroendocrine neoplasm 0.62 (GraphQL API, CC0)"},{"label":"IntOGen EPHA3","url":"https://www.intogen.org/search?gene=EPHA3","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA EPHA3: RNA tissue enhanced (prostate 30 nTPM); no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours, Thyroid cancer, Breast cancer (all types), Oesophageal cancer, Prostate cancer, Gastric & gastro-oesophageal junction cancer, Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P29320","url":"https://www.uniprot.org/uniprotkb/P29320/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen EPHA3","url":"https://www.intogen.org/search?gene=EPHA3","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas EPHA3 tissue","url":"https://www.proteinatlas.org/ENSG00000044524-EPHA3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000044524 associations","url":"https://platform.opentargets.org/target/ENSG00000044524/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3387","ensembl":"ENSG00000044524","uniprot":"P29320","entrez":"2042","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wicks I.P. et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Molecular cloning of HEK, the gene encoding a receptor tyrosine kinase expressed by human lymphoid tumor cell lines\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1311845/","biology":"Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5. Upon activation by EFNA5 regulates cell-cell adhesion, cytoskeletal organisation and cell migration. Also activated by EFNA1, inhibiting epithelial-to-mesenchymal transition of cardiac cells and playing a role in heart development. Involved in the retinotectal mapping of neurons. Location: Cell membrane; Secreted (UniProt). Locus 3p11.1 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.62 with neuroendocrine neoplasm (MONDO_0019496)","Thyroid cancer: Open Targets association 0.62 with thyroid cancer (MONDO_0002108)","Breast cancer: IntOGen driver in 1 cohort (BRCA)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"kinase","prevalence":[]},{"id":"epha4","kind":"target","name":"EPHA4","aka":["EPH receptor A4","Ephrin type-A receptor 4","Hek8","TYRO1"],"tldr":"EPHA4 (Ephrin type-A receptor 4) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer and Neuroendocrine tumours.","summary":"Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI-anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.94, animal model 0.66, genetic association 0.39, clinical 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3388","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3388"},{"label":"UniProt P54764","url":"https://www.uniprot.org/uniprotkb/P54764/entry"},{"label":"NCBI Gene 2043","url":"https://www.ncbi.nlm.nih.gov/gene/2043"},{"label":"Ensembl ENSG00000116106","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116106"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHA4","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3388","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3388","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54764","url":"https://www.uniprot.org/uniprotkb/P54764/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000116106","url":"https://platform.opentargets.org/target/ENSG00000116106/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: thyroid cancer 0.56, neuroendocrine neoplasm 0.55 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EPHA4: RNA tissue enhanced (brain 24 nTPM); high antibody staining in 3 normal tissues; highest cancer staining thyroid cancer (4 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EPHA4 tissue","url":"https://www.proteinatlas.org/ENSG00000116106-EPHA4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116106 associations","url":"https://platform.opentargets.org/target/ENSG00000116106/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3388","ensembl":"ENSG00000116106","uniprot":"P54764","entrez":"2043","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fox G.M. et al, Oncogene, 1995, \"cDNA cloning and tissue distribution of five human EPH-like receptor protein-tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7898931/","biology":"Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Highly promiscuous, it has the unique property among Eph receptors to bind and to be physiologically activated by both GPI-anchored ephrin-A and transmembrane ephrin-B ligands including EFNA1 and EFNB3. Upon activation by ephrin ligands, modulates cell morphology and integrin-dependent cell adhesion through regulation of the Rac, Rap and Rho GTPases activity. Plays an important role in the development of the nervous system controlling different steps of axonal guidance including the establishment of the corticospinal projections. May also control the segregation of motor and sensory axons during neuromuscular circuit development. Location: Cell membrane; Cell projection, axon; Cell projection, dendrite; Postsynaptic density membrane (UniProt). Locus 2q36.1 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.56 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.55 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"kinase","prevalence":[]},{"id":"epha5","kind":"target","name":"EPHA5","aka":["EPH receptor A5","Ephrin type-A receptor 5","Hek7","TYRO4","CEK7","EHK1"],"tldr":"EPHA5 (Ephrin type-A receptor 5) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer and Neuroendocrine tumours.","summary":"Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Among GPI-anchored ephrin-A ligands, EFNA5 most probably constitutes the cognate/functional ligand for EPHA5.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.39, clinical 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3389","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3389"},{"label":"UniProt P54756","url":"https://www.uniprot.org/uniprotkb/P54756/entry"},{"label":"NCBI Gene 2044","url":"https://www.ncbi.nlm.nih.gov/gene/2044"},{"label":"Ensembl ENSG00000145242","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145242"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHA5","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3389","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3389","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54756","url":"https://www.uniprot.org/uniprotkb/P54756/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000145242","url":"https://platform.opentargets.org/target/ENSG00000145242/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: thyroid cancer 0.57, neuroendocrine neoplasm 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EPHA5: RNA tissue enriched (brain 11 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EPHA5 tissue","url":"https://www.proteinatlas.org/ENSG00000145242-EPHA5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000145242 associations","url":"https://platform.opentargets.org/target/ENSG00000145242/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3389","ensembl":"ENSG00000145242","uniprot":"P54756","entrez":"2044","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fox G.M. et al, Oncogene, 1995, \"cDNA cloning and tissue distribution of five human EPH-like receptor protein-tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7898931/","biology":"Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Among GPI-anchored ephrin-A ligands, EFNA5 most probably constitutes the cognate/functional ligand for EPHA5. Functions as an axon guidance molecule during development and may be involved in the development of the retinotectal, entorhino-hippocampal and hippocamposeptal pathways. Together with EFNA5 plays also a role in synaptic plasticity in adult brain through regulation of synaptogenesis. In addition to its function in the nervous system, the interaction of EPHA5 with EFNA5 mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion. Location: Cell membrane; Cell projection, axon; Cell projection, dendrite (UniProt). Locus 4q13.1-q13.2 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.57 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.54 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"kinase","prevalence":[]},{"id":"epha6","kind":"target","name":"EPHA6","aka":["EPH receptor A6","Ephrin type-A receptor 6","FLJ35246"],"tldr":"EPHA6 (Ephrin type-A receptor 6) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer and Neuroendocrine tumours.","summary":"Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.44, animal model 0.53, genetic association 0.33, clinical 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19296","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19296"},{"label":"UniProt Q9UF33","url":"https://www.uniprot.org/uniprotkb/Q9UF33/entry"},{"label":"NCBI Gene 285220","url":"https://www.ncbi.nlm.nih.gov/gene/285220"},{"label":"Ensembl ENSG00000080224","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000080224"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHA6","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:19296","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19296","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UF33","url":"https://www.uniprot.org/uniprotkb/Q9UF33/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000080224","url":"https://platform.opentargets.org/target/ENSG00000080224/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: thyroid cancer 0.56, neuroendocrine neoplasm 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EPHA6: RNA tissue enhanced (ovary 4 nTPM, testis 8 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (6 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EPHA6 tissue","url":"https://www.proteinatlas.org/ENSG00000080224-EPHA6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000080224 associations","url":"https://platform.opentargets.org/target/ENSG00000080224/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:19296","ensembl":"ENSG00000080224","uniprot":"Q9UF33","entrez":"285220","firstDescribed":2006,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Muzny D.M. et al, Nature, 2006, \"The DNA sequence, annotation and analysis of human chromosome 3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/16641997/","biology":"Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Location: Membrane (UniProt). Locus 3q11.2 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.56 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.54 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"kinase","prevalence":[]},{"id":"epha7","kind":"target","name":"EPHA7","aka":["EPH receptor A7","Ephrin type-A receptor 7","Hek11"],"tldr":"EPHA7 (Ephrin type-A receptor 7) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver and a tumour suppressor, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer, Neuroendocrine tumours, Colorectal cancer and 2 more.","summary":"Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Among GPI-anchored ephrin-A ligands, EFNA5 is a cognate/functional ligand for EPHA7 and their interaction regulates brain development modulating cell-cell adhesion and repulsion.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.28, somatic mutation 0.50, clinical 0.93). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Colorectal Adenocarcinoma, Hepatocellular Carcinoma, Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3390","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3390"},{"label":"UniProt Q15375","url":"https://www.uniprot.org/uniprotkb/Q15375/entry"},{"label":"NCBI Gene 2045","url":"https://www.ncbi.nlm.nih.gov/gene/2045"},{"label":"Ensembl ENSG00000135333","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135333"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["thyroid","neuroendocrine","colorectal","hcc","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHA7","role":["drug-target","oncogene-driver","tumour-suppressor"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3390","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3390","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15375","url":"https://www.uniprot.org/uniprotkb/Q15375/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135333","url":"https://platform.opentargets.org/target/ENSG00000135333/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: thyroid cancer 0.62, neuroendocrine neoplasm 0.61 (GraphQL API, CC0)"},{"label":"IntOGen EPHA7","url":"https://www.intogen.org/search?gene=EPHA7","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA EPHA7: RNA tissue enriched (parathyroid gland 66 nTPM); high antibody staining in 8 normal tissues; highest cancer staining pancreatic cancer (1 of 8 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Neuroendocrine tumours, Colorectal cancer, Hepatocellular carcinoma, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q15375","url":"https://www.uniprot.org/uniprotkb/Q15375/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen EPHA7","url":"https://www.intogen.org/search?gene=EPHA7","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas EPHA7 tissue","url":"https://www.proteinatlas.org/ENSG00000135333-EPHA7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000135333 associations","url":"https://platform.opentargets.org/target/ENSG00000135333/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3390","ensembl":"ENSG00000135333","uniprot":"Q15375","entrez":"2045","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fox G.M. et al, Oncogene, 1995, \"cDNA cloning and tissue distribution of five human EPH-like receptor protein-tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7898931/","biology":"Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Among GPI-anchored ephrin-A ligands, EFNA5 is a cognate/functional ligand for EPHA7 and their interaction regulates brain development modulating cell-cell adhesion and repulsion. Has a repellent activity on axons and is for instance involved in the guidance of corticothalamic axons and in the proper topographic mapping of retinal axons to the colliculus. May also regulate brain development through a caspase(CASP3)-dependent proapoptotic activity. Forward signalling may result in activation of components of the ERK signalling pathway including MAP2K1, MAP2K2, MAPK1 and MAPK3 which are phosphorylated upon activation of EPHA7. Location: Cell membrane (UniProt). Locus 6q16.1 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.62 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.61 with neuroendocrine neoplasm (MONDO_0019496)","Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"kinase","prevalence":[]},{"id":"epha8","kind":"target","name":"EPHA8","aka":["EPH receptor A8","Ephrin type-A receptor 8","Hek3"],"tldr":"EPHA8 (Ephrin type-A receptor 8) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours and Thyroid cancer.","summary":"Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. The GPI-anchored ephrin-A EFNA2, EFNA3, and EFNA5 are able to activate EPHA8 through phosphorylation.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.62, genetic association 0.00, clinical 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3391","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3391"},{"label":"UniProt P29322","url":"https://www.uniprot.org/uniprotkb/P29322/entry"},{"label":"NCBI Gene 2046","url":"https://www.ncbi.nlm.nih.gov/gene/2046"},{"label":"Ensembl ENSG00000070886","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000070886"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine","thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHA8","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3391","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3391","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29322","url":"https://www.uniprot.org/uniprotkb/P29322/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000070886","url":"https://platform.opentargets.org/target/ENSG00000070886/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: thyroid cancer 0.56, neuroendocrine neoplasm 0.62 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EPHA8: RNA tissue enriched (choroid plexus 32 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours, Thyroid cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EPHA8 tissue","url":"https://www.proteinatlas.org/ENSG00000070886-EPHA8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000070886 associations","url":"https://platform.opentargets.org/target/ENSG00000070886/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3391","ensembl":"ENSG00000070886","uniprot":"P29322","entrez":"2046","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chan et al, Oncogene, 1991, \"eek and erk, new members of the eph subclass of receptor protein-tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1648701/","biology":"Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. The GPI-anchored ephrin-A EFNA2, EFNA3, and EFNA5 are able to activate EPHA8 through phosphorylation. With EFNA5 may regulate integrin-mediated cell adhesion and migration on fibronectin substrate but also neurite outgrowth. During development of the nervous system also plays a role in axon guidance. Downstream effectors of the EPHA8 signalling pathway include FYN which promotes cell adhesion upon activation by EPHA8 and the MAP kinases in the stimulation of neurite outgrowth. Location: Cell membrane; Cell projection; Early endosome membrane (UniProt). Locus 1p36.12 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.62 with neuroendocrine neoplasm (MONDO_0019496)","Thyroid cancer: Open Targets association 0.56 with thyroid cancer (MONDO_0002108)"],"targetClass":"kinase","prevalence":[]},{"id":"ephb1","kind":"target","name":"EPHB1","aka":["EPH receptor B1","Ephrin type-B receptor 1","Hek6","EPHT2"],"tldr":"EPHB1 (Ephrin type-B receptor 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer and Neuroendocrine tumours.","summary":"Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Cognate/functional ephrin ligands for this receptor include EFNB1, EFNB2 and EFNB3.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.93, animal model 0.47, genetic association 0.35, clinical 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3392","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3392"},{"label":"UniProt P54762","url":"https://www.uniprot.org/uniprotkb/P54762/entry"},{"label":"NCBI Gene 2047","url":"https://www.ncbi.nlm.nih.gov/gene/2047"},{"label":"Ensembl ENSG00000154928","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000154928"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHB1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3392","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3392","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54762","url":"https://www.uniprot.org/uniprotkb/P54762/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000154928","url":"https://platform.opentargets.org/target/ENSG00000154928/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: thyroid cancer 0.56, neuroendocrine neoplasm 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EPHB1: RNA tissue enhanced (brain 19 nTPM); blood lineage group enriched (dendritic cells 23 nTPM, granulocytes 10 nTPM); high antibody staining in 1 normal tissue. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EPHB1 tissue","url":"https://www.proteinatlas.org/ENSG00000154928-EPHB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000154928 associations","url":"https://platform.opentargets.org/target/ENSG00000154928/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3392","ensembl":"ENSG00000154928","uniprot":"P54762","entrez":"2047","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tang X.X. et al, Genomics, 1995, \"cDNA cloning, molecular characterization, and chromosomal localization of NET(EPHT2), a human EPH-related receptor protein-tyrosine kinase gene preferentially expressed in brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8666391/","biology":"Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Cognate/functional ephrin ligands for this receptor include EFNB1, EFNB2 and EFNB3. During nervous system development, regulates retinal axon guidance redirecting ipsilaterally ventrotemporal retinal ganglion cells axons at the optic chiasm midline. This probably requires repulsive interaction with EFNB2. In the adult nervous system together with EFNB3, regulates chemotaxis, proliferation and polarity of the hippocampus neural progenitors. Location: Cell membrane; Early endosome membrane; Cell projection, dendrite (UniProt). Locus 3q22.2 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.56 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.54 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"kinase","prevalence":[]},{"id":"ephb2","kind":"target","name":"EPHB2","aka":["EPH receptor B2","Ephrin type-B receptor 2","Hek5","Tyro5","EPHT3"],"tldr":"EPHB2 (Ephrin type-B receptor 2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Prostate cancer, Thyroid cancer and Neuroendocrine tumours.","summary":"Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Functions in axon guidance during development.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes clinical 0.93, genetic literature 0.30, literature 0.97, genetic association 0.19, somatic mutation 0.72, animal model 0.43).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3393","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3393"},{"label":"UniProt P29323","url":"https://www.uniprot.org/uniprotkb/P29323/entry"},{"label":"NCBI Gene 2048","url":"https://www.ncbi.nlm.nih.gov/gene/2048"},{"label":"Ensembl ENSG00000133216","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000133216"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["prostate","thyroid","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHB2","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3393","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3393","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29323","url":"https://www.uniprot.org/uniprotkb/P29323/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EPHB2","url":"https://civicdb.org/features/1719","note":"2 evidence items, 0 assertions, 2 variants; diseases: Prostate Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000133216","url":"https://platform.opentargets.org/target/ENSG00000133216/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: prostate cancer 0.51, thyroid cancer 0.56, neuroendocrine neoplasm 0.55 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EPHB2: RNA tissue enhanced (intestine 22 nTPM); high antibody staining in 7 normal tissues; highest cancer staining testis cancer (9 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Thyroid cancer, Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EPHB2 tissue","url":"https://www.proteinatlas.org/ENSG00000133216-EPHB2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000133216 associations","url":"https://platform.opentargets.org/target/ENSG00000133216/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3393","ensembl":"ENSG00000133216","uniprot":"P29323","entrez":"2048","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chan et al, Oncogene, 1991, \"eek and erk, new members of the eph subclass of receptor protein-tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1648701/","biology":"Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral cortex. Also involved in guidance of contralateral inner ear efferent growth cones at the midline and of retinal ganglion cell axons to the optic disk. In addition to axon guidance, also regulates dendritic spines development and maturation and stimulates the formation of excitatory synapses. Location: Cell membrane; Cell projection, axon; Cell projection, dendrite; Secreted (UniProt). Locus 1p36.12 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Thyroid cancer: Open Targets association 0.56 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.55 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"kinase","prevalence":[]},{"id":"ephb3","kind":"target","name":"EPHB3","aka":["EPH receptor B3","Ephrin type-B receptor 3","Hek2","Tyro6","ETK2"],"tldr":"EPHB3 (Ephrin type-B receptor 3) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer and Neuroendocrine tumours.","summary":"Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Generally has an overlapping and redundant function with EPHB2.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.05, clinical 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3394","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3394"},{"label":"UniProt P54753","url":"https://www.uniprot.org/uniprotkb/P54753/entry"},{"label":"NCBI Gene 2049","url":"https://www.ncbi.nlm.nih.gov/gene/2049"},{"label":"Ensembl ENSG00000182580","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182580"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHB3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3394","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3394","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54753","url":"https://www.uniprot.org/uniprotkb/P54753/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182580","url":"https://platform.opentargets.org/target/ENSG00000182580/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: thyroid cancer 0.56, neuroendocrine neoplasm 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EPHB3: RNA tissue enhanced (skin 1 50 nTPM); high antibody staining in 1 normal tissue; highest cancer staining colorectal cancer (5 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EPHB3 tissue","url":"https://www.proteinatlas.org/ENSG00000182580-EPHB3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000182580 associations","url":"https://platform.opentargets.org/target/ENSG00000182580/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3394","ensembl":"ENSG00000182580","uniprot":"P54753","entrez":"2049","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Boehme et al, Oncogene, 1993, \"PCR mediated detection of a new human receptor-tyrosine-kinase, HEK 2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8397371/","biology":"Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Generally has an overlapping and redundant function with EPHB2. Like EPHB2, functions in axon guidance during development regulating for instance the neurons forming the corpus callosum and the anterior commissure, 2 major interhemispheric connections between the temporal lobes of the cerebral cortex. In addition to its role in axon guidance also plays an important redundant role with other ephrin-B receptors in development and maturation of dendritic spines and the formation of excitatory synapses. Controls other aspects of development through regulation of cell migration and positioning. Location: Cell membrane; Cell projection, dendrite (UniProt). Locus 3q27.1 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.56 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.54 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"kinase","prevalence":[]},{"id":"ephb4","kind":"target","name":"EPHB4","aka":["EPH receptor B4","Ephrin type-B receptor 4","Tyro11"],"tldr":"EPHB4 (Ephrin type-B receptor 4) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Colorectal cancer, Thyroid cancer and Neuroendocrine tumours.","summary":"Receptor tyrosine kinase which binds promiscuously to transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Together with its cognate ligand/functional ligand EFNB2, it is involved in the regulation of cell adhesion and migration, and plays a central role in heart morphogenesis, angiogenesis and blood vessel remodeling and permeability.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Bevacizumab. Open Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.18, clinical 0.94).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3395","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3395"},{"label":"UniProt P54760","url":"https://www.uniprot.org/uniprotkb/P54760/entry"},{"label":"NCBI Gene 2050","url":"https://www.ncbi.nlm.nih.gov/gene/2050"},{"label":"Ensembl ENSG00000196411","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196411"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","thyroid","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPHB4","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3395","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3395","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54760","url":"https://www.uniprot.org/uniprotkb/P54760/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EPHB4","url":"https://civicdb.org/features/1721","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000196411","url":"https://platform.opentargets.org/target/ENSG00000196411/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: thyroid cancer 0.57, neuroendocrine neoplasm 0.56 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA EPHB4: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (4 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Thyroid cancer, Neuroendocrine tumours); Open Targets associates it with 2 specific cancer types at or above 0.5 (medullary thyroid gland carcinoma, vein of Galen aneurysm). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EPHB4 tissue","url":"https://www.proteinatlas.org/ENSG00000196411-EPHB4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000196411 associations","url":"https://platform.opentargets.org/target/ENSG00000196411/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3395","ensembl":"ENSG00000196411","uniprot":"P54760","entrez":"2050","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bennett B.D. et al, J. Biol. Chem, 1994, \"Cloning and characterization of HTK, a novel transmembrane tyrosine kinase of the EPH subfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8188704/","biology":"Receptor tyrosine kinase which binds promiscuously to transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signalling into neighboring cells. The signalling pathway downstream of the receptor is referred to as forward signalling while the signalling pathway downstream of the ephrin ligand is referred to as reverse signalling. Together with its cognate ligand/functional ligand EFNB2, it is involved in the regulation of cell adhesion and migration, and plays a central role in heart morphogenesis, angiogenesis and blood vessel remodeling and permeability. EPHB4-mediated forward signalling controls cellular repulsion and segregation from EFNB2-expressing cells. Phosphorylates inactive tyrosine-protein kinase EPHB6 which promotes interaction of EPHB6 with SH2 domains, allowing it to recruit SH2 domain-containing signalling adapters. Location: Cell membrane (UniProt). Locus 7q22.1 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Thyroid cancer: Open Targets association 0.57 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.56 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"kinase","prevalence":[]},{"id":"eps15","kind":"target","name":"EPS15","aka":["epidermal growth factor receptor pathway substrate 15","Epidermal growth factor receptor substrate 15","AF-1P","MLLT5"],"tldr":"EPS15 (Epidermal growth factor receptor substrate 15) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Breast cancer, Non-Hodgkin lymphoma and 2 more.","summary":"Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalisation of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.35, genetic association 0.00, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3419","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3419"},{"label":"UniProt P42566","url":"https://www.uniprot.org/uniprotkb/P42566/entry"},{"label":"NCBI Gene 2060","url":"https://www.ncbi.nlm.nih.gov/gene/2060"},{"label":"Ensembl ENSG00000085832","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085832"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","breast-cancer","non-hodgkin-lymphoma","skin-cancer","leukaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EPS15","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3419","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3419","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42566","url":"https://www.uniprot.org/uniprotkb/P42566/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000085832","url":"https://platform.opentargets.org/target/ENSG00000085832/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.52, skin cancer 0.51, breast cancer 0.53, leukaemia 0.51 (GraphQL API, CC0)"},{"label":"IntOGen EPS15","url":"https://www.intogen.org/search?gene=EPS15","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3419","ensembl":"ENSG00000085832","uniprot":"P42566","entrez":"2060","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wong W.T. et al, Oncogene, 1994, \"The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8183552/","biology":"Involved in cell growth regulation. May be involved in the regulation of mitogenic signals and control of cell proliferation. Involved in the internalisation of ligand-inducible receptors of the receptor tyrosine kinase (RTK) type, in particular EGFR. Plays a role in the assembly of clathrin-coated pits (CCPs). Acts as a clathrin adapter required for post-Golgi trafficking. Seems to be involved in CCPs maturation including invagination or budding. Location: Cytoplasm; Cell membrane; Membrane, clathrin-coated pit; Early endosome membrane (UniProt). Locus 1p32.3 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)"],"targetClass":"oncogene","prevalence":[]},{"id":"erbin","kind":"target","name":"ERBIN","aka":["erbb2 interacting protein","Erbin","LAP2","ERBB2IP"],"tldr":"ERBIN (Erbin) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilise this unphosphorylated state. Inhibits NOD2-dependent NF-kappa-B signalling and pro-inflammatory cytokine secretion.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.97, genetic association 0.04, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15842","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15842"},{"label":"UniProt Q96RT1","url":"https://www.uniprot.org/uniprotkb/Q96RT1/entry"},{"label":"NCBI Gene 55914","url":"https://www.ncbi.nlm.nih.gov/gene/55914"},{"label":"Ensembl ENSG00000112851","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112851"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERBIN","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:15842","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15842","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96RT1","url":"https://www.uniprot.org/uniprotkb/Q96RT1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000112851","url":"https://platform.opentargets.org/target/ENSG00000112851/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:15842","ensembl":"ENSG00000112851","uniprot":"Q96RT1","entrez":"55914","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10574462/","biology":"Acts as an adapter for the receptor ERBB2, in epithelia. By binding the unphosphorylated 'Tyr-1248' of receptor ERBB2, it may contribute to stabilise this unphosphorylated state. Inhibits NOD2-dependent NF-kappa-B signalling and pro-inflammatory cytokine secretion. Acts as a mediator of keratinocyte differentiation by sequestering SHOC2 away from ERK-activating RAS complexes. Location: Cell junction, hemidesmosome; Nucleus membrane; Basolateral cell membrane; Cytoplasm (UniProt). Locus 5q12.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"erc1","kind":"target","name":"ERC1","aka":["ELKS/RAB6-interacting/CAST family member 1","ELKS/Rab6-interacting/CAST family member 1","KIAA1081","CAST2","MGC12974","RAB6IP2"],"tldr":"ERC1 (ELKS/Rab6-interacting/CAST family member 1) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organisation of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.38, animal model 0.42, genetic association 0.08, somatic mutation 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17072","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17072"},{"label":"UniProt Q8IUD2","url":"https://www.uniprot.org/uniprotkb/Q8IUD2/entry"},{"label":"NCBI Gene 23085","url":"https://www.ncbi.nlm.nih.gov/gene/23085"},{"label":"Ensembl ENSG00000082805","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000082805"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERC1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17072","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17072","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IUD2","url":"https://www.uniprot.org/uniprotkb/Q8IUD2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000082805","url":"https://platform.opentargets.org/target/ENSG00000082805/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17072","ensembl":"ENSG00000082805","uniprot":"Q8IUD2","entrez":"23085","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nakata et al, Genes Chromosomes Cancer, 1999, \"Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10337992/","biology":"Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organisation of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm; Membrane; Golgi apparatus membrane (UniProt). Locus 12p13.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ercc1","kind":"target","name":"ERCC1","aka":["ERCC excision repair 1, endonuclease non-catalytic subunit","DNA excision repair protein ERCC-1","RAD10"],"tldr":"ERCC1 (DNA excision repair protein ERCC-1) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Mesothelioma, Ovarian cancer and 1 more.","summary":"Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure.\n\nCIViC holds 11 clinical evidence items and 0 assertions across 3 variants, naming Gemcitabine, Cisplatin, Platinum Compound and Paclitaxel and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3433","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3433"},{"label":"UniProt P07992","url":"https://www.uniprot.org/uniprotkb/P07992/entry"},{"label":"NCBI Gene 2067","url":"https://www.ncbi.nlm.nih.gov/gene/2067"},{"label":"Ensembl ENSG00000012061","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000012061"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["urothelial","mesothelioma","ovarian","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 6 therapies; CIViC holds 11 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERCC1","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3433","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3433","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P07992","url":"https://www.uniprot.org/uniprotkb/P07992/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC1","url":"https://civicdb.org/features/1735","note":"11 evidence items, 0 assertions, 3 variants; diseases: Lung Non-small Cell Carcinoma, Bladder Carcinoma, Malignant Pleural Mesothelioma, Epithelial Ovarian Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ERCC1: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining melanoma (1 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Mesothelioma, Ovarian cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ERCC1 tissue","url":"https://www.proteinatlas.org/ENSG00000012061-ERCC1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000012061 associations","url":"https://platform.opentargets.org/target/ENSG00000012061/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3433","ensembl":"ENSG00000012061","uniprot":"P07992","entrez":"2067","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: van Duin et al, Cell, 1986, \"Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2420469/","biology":"Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4. Not functional in the nucleotide excision repair pathway. Not functional in the nucleotide excision repair pathway. Location: Nucleus; Cytoplasm (UniProt). Locus 19q13.32 (HGNC).","whereFound":["Bladder & urothelial cancer: CIViC evidence names this disease","Mesothelioma: CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ercc2","kind":"target","name":"ERCC2","aka":["ERCC excision repair 2, TFIIH core complex helicase subunit","General transcription and DNA repair factor IIH helicase subunit XPD","EM9","MGC102762","MGC126218","MGC126219"],"tldr":"ERCC2 (General transcription and DNA repair factor IIH helicase subunit XPD) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Skin cancer, Colorectal cancer and 5 more.","summary":"ATP-dependent 5'-3' DNA helicase. Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro. Required for transcription-coupled nucleotide excision repair (NER) of damaged DNA; recognises damaged bases.\n\nCIViC holds 23 clinical evidence items and 0 assertions across 15 variants, naming Chemotherapy, Immune Checkpoint Inhibitor, Paclitaxel and Carboplatin and others. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.61, literature 0.99, genetic association 0.62, somatic mutation 0.95, animal model 0.60). IntOGen calls it a driver in 6 cohorts (6 activating, 0 loss-of-function), covering Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3434","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3434"},{"label":"UniProt P18074","url":"https://www.uniprot.org/uniprotkb/P18074/entry"},{"label":"NCBI Gene 2068","url":"https://www.ncbi.nlm.nih.gov/gene/2068"},{"label":"Ensembl ENSG00000104884","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104884"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","skin-cancer","colorectal","ovarian","gastric","melanoma","nsclc","osteosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 5 therapies; IntOGen calls it an activating (Act) driver in 6 cohorts; CIViC holds 23 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERCC2","role":["drug-target","oncogene-driver","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3434","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3434","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P18074","url":"https://www.uniprot.org/uniprotkb/P18074/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC2","url":"https://civicdb.org/features/1736","note":"23 evidence items, 0 assertions, 15 variants; diseases: Bladder Carcinoma, Lung Non-small Cell Carcinoma, Bladder Urothelial Carcinoma, Melanoma, Osteosarcoma and 1 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000104884","url":"https://platform.opentargets.org/target/ENSG00000104884/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.56, gastric cancer 0.50, urinary bladder cancer 0.73, ovarian cancer 0.51, melanoma 0.58, skin cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen ERCC2","url":"https://www.intogen.org/search?gene=ERCC2","note":"driver in 6 cohorts (Act 6, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ERCC2: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining melanoma (3 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Skin cancer (all types), Colorectal cancer, Ovarian cancer, Gastric & gastro-oesophageal junction cancer, Lung cancer (all types), Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 3 specific cancer types at or above 0.5 (xeroderma pigmentosum group D, urinary bladder cancer, urinary bladder carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P18074","url":"https://www.uniprot.org/uniprotkb/P18074/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC2","url":"https://civicdb.org/features/1736","note":"23 evidence items, 0 assertions, 15 variants; diseases: Bladder Carcinoma, Lung Non-small Cell Carcinoma, Bladder Urothelial Carcinoma, Melanoma, Osteosarcoma and 1 more (GraphQL API, CC0)"},{"label":"IntOGen ERCC2","url":"https://www.intogen.org/search?gene=ERCC2","note":"driver in 6 cohorts (Act 6, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ERCC2 tissue","url":"https://www.proteinatlas.org/ENSG00000104884-ERCC2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000104884 associations","url":"https://platform.opentargets.org/target/ENSG00000104884/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3434","ensembl":"ENSG00000104884","uniprot":"P18074","entrez":"2068","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Weber C.A. et al, EMBO J, 1990, \"ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2184031/","biology":"ATP-dependent 5'-3' DNA helicase. Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro. Required for transcription-coupled nucleotide excision repair (NER) of damaged DNA; recognises damaged bases. Sequestered in chromatin on UV-damaged DNA. When complexed to CDK-activating kinase (CAK), involved in transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. Location: Nucleus; Cytoplasm, cytoskeleton, spindle (UniProt). Locus 19q13.32 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.73 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.50 with gastric cancer (MONDO_0001056)","Melanoma: Open Targets association 0.58 with melanoma (MONDO_0005105); CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},{"id":"ercc3","kind":"target","name":"ERCC3","aka":["ERCC excision repair 3, TFIIH core complex helicase subunit","General transcription and DNA repair factor IIH helicase/translocase subunit XPB","BTF2","RAD25","Ssl2"],"tldr":"ERCC3 (General transcription and DNA repair factor IIH helicase/translocase subunit XPB) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Cervical cancer, Skin cancer, Ovarian cancer and 3 more.","summary":"ATP-dependent 3'-5' DNA helicase/translocase. Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity. Component of the general transcription and DNA repair factor IIH (TFIIH) core complex.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Immune Checkpoint Inhibitor. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.44, somatic mutation 0.85). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Cervical Squamous Cell Carcinoma, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3435","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3435"},{"label":"UniProt P19447","url":"https://www.uniprot.org/uniprotkb/P19447/entry"},{"label":"NCBI Gene 2071","url":"https://www.ncbi.nlm.nih.gov/gene/2071"},{"label":"Ensembl ENSG00000163161","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163161"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["cervical","skin-cancer","ovarian","colorectal","melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERCC3","role":["drug-target","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3435","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3435","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P19447","url":"https://www.uniprot.org/uniprotkb/P19447/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC3","url":"https://civicdb.org/features/1739","note":"3 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000163161","url":"https://platform.opentargets.org/target/ENSG00000163161/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.52, ovarian cancer 0.53, melanoma 0.55, skin cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen ERCC3","url":"https://www.intogen.org/search?gene=ERCC3","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Xeroderma pigmentosum complementation group B (XP-B) under involvement in disease, and the record is a tumour suppressor; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA ERCC3: RNA low tissue specificity; high antibody staining in 29 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Cervical cancer, Skin cancer (all types), Ovarian cancer, Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (xeroderma pigmentosum group B). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P19447","url":"https://www.uniprot.org/uniprotkb/P19447/entry","note":"involvement in disease"},{"label":"Human Protein Atlas ERCC3 tissue","url":"https://www.proteinatlas.org/ENSG00000163161-ERCC3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163161 associations","url":"https://platform.opentargets.org/target/ENSG00000163161/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3435","ensembl":"ENSG00000163161","uniprot":"P19447","entrez":"2071","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Weeda et al, Mol. Cell. Biol, 1990, \"Molecular cloning and biological characterization of the human excision repair gene ERCC-3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2111438/","biology":"ATP-dependent 3'-5' DNA helicase/translocase. Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity. Component of the general transcription and DNA repair factor IIH (TFIIH) core complex. When complexed to CDK-activating kinase (CAK), involved in RNA transcription by RNA polymerase II. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required for DNA opening; it may wrap around the damaged DNA wedging it open, causing localised melting that allows XPD/ERCC2 helicase to anchor. In transcription, TFIIH has an essential role in transcription initiation. Location: Nucleus (UniProt). Locus 2q14.3 (HGNC).","whereFound":["Cervical cancer: IntOGen driver in 1 cohort (CESC)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Ovarian cancer: Open Targets association 0.53 with ovarian cancer (MONDO_0008170)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105); CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ercc4","kind":"target","name":"ERCC4","aka":["ERCC excision repair 4, endonuclease catalytic subunit","DNA repair endonuclease XPF","RAD1","FANCQ"],"tldr":"ERCC4 (DNA repair endonuclease XPF) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Skin cancer, Myeloproliferative neoplasms and 4 more.","summary":"Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Immune Checkpoint Inhibitor. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.61, literature 0.98, genetic association 0.63, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3436","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3436"},{"label":"UniProt Q92889","url":"https://www.uniprot.org/uniprotkb/Q92889/entry"},{"label":"NCBI Gene 2072","url":"https://www.ncbi.nlm.nih.gov/gene/2072"},{"label":"Ensembl ENSG00000175595","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175595"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["leukaemia","skin-cancer","myeloproliferative-neoplasms","colorectal","melanoma","nsclc","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERCC4","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3436","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3436","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92889","url":"https://www.uniprot.org/uniprotkb/Q92889/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC4","url":"https://civicdb.org/features/1740","note":"3 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000175595","url":"https://platform.opentargets.org/target/ENSG00000175595/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.53, melanoma 0.54, acute myeloid leukaemia 0.53, skin cancer 0.55, myeloproliferative neoplasm 0.54, leukaemia 0.60 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Xeroderma pigmentosum complementation group F (XP-F) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA ERCC4: RNA tissue enhanced (skeletal muscle 17 nTPM); high antibody staining in 6 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Skin cancer (all types), Myeloid neoplasms, Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (xeroderma pigmentosum group F, acute myeloid leukemia). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q92889","url":"https://www.uniprot.org/uniprotkb/Q92889/entry","note":"involvement in disease"},{"label":"Human Protein Atlas ERCC4 tissue","url":"https://www.proteinatlas.org/ENSG00000175595-ERCC4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000175595 associations","url":"https://platform.opentargets.org/target/ENSG00000175595/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3436","ensembl":"ENSG00000175595","uniprot":"Q92889","entrez":"2072","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Brookman K.W. et al, Mol. Cell. Biol, 1996, \"ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8887684/","biology":"Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair. Location: Nucleus; Chromosome (UniProt). Locus 16p13.12 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Myeloproliferative neoplasms: Open Targets association 0.54 with myeloproliferative neoplasm (MONDO_0020076)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.54 with melanoma (MONDO_0005105); CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"ercc5","kind":"target","name":"ERCC5","aka":["ERCC excision repair 5, endonuclease","DNA excision repair protein ERCC-5","ERCM2"],"tldr":"ERCC5 (DNA excision repair protein ERCC-5) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer, Skin cancer, Neuroendocrine tumours and 3 more.","summary":"Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Binds and bends DNA repair bubble substrate and breaks base stacking at the single-strand/double-strand DNA junction of the DNA bubble.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 2 variants, naming Immune Checkpoint Inhibitor. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.97, animal model 0.57, genetic association 0.65, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3437","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3437"},{"label":"UniProt P28715","url":"https://www.uniprot.org/uniprotkb/P28715/entry"},{"label":"NCBI Gene 2073","url":"https://www.ncbi.nlm.nih.gov/gene/2073"},{"label":"Ensembl ENSG00000134899","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134899"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["ovarian","skin-cancer","neuroendocrine","colorectal","melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 4 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Parietal Lobe Ependymoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERCC5","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3437","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3437","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P28715","url":"https://www.uniprot.org/uniprotkb/P28715/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC5","url":"https://civicdb.org/features/1741","note":"4 evidence items, 0 assertions, 2 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Parietal Lobe Ependymoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000134899","url":"https://platform.opentargets.org/target/ENSG00000134899/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: colorectal cancer 0.51, ovarian cancer 0.57, melanoma 0.54, neuroendocrine neoplasm 0.52, skin cancer 0.56 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Xeroderma pigmentosum complementation group G (XP-G) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA ERCC5: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining ovarian cancer (4 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Skin cancer (all types), Neuroendocrine tumours, Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (xeroderma pigmentosum group G). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P28715","url":"https://www.uniprot.org/uniprotkb/P28715/entry","note":"involvement in disease"},{"label":"Human Protein Atlas ERCC5 tissue","url":"https://www.proteinatlas.org/ENSG00000134899-ERCC5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000134899 associations","url":"https://platform.opentargets.org/target/ENSG00000134899/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3437","ensembl":"ENSG00000134899","uniprot":"P28715","entrez":"2073","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Scherly et al, Nature, 1993, \"Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8483504/","biology":"Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Binds and bends DNA repair bubble substrate and breaks base stacking at the single-strand/double-strand DNA junction of the DNA bubble. Plays a role in base excision repair (BER) by promoting the binding of DNA glycosylase NTHL1 to its substrate and increasing NTHL1 catalytic activity that removes oxidised pyrimidines from DNA. Involved in transcription-coupled nucleotide excision repair (TCR) which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Functions during the initial step of TCR in cooperation with ERCC6/CSB to recognised stalled RNA polymerase II. Location: Nucleus; Chromosome (UniProt). Locus 13q33.1 (HGNC).","whereFound":["Ovarian cancer: Open Targets association 0.57 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Neuroendocrine tumours: Open Targets association 0.52 with neuroendocrine neoplasm (MONDO_0019496)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.54 with melanoma (MONDO_0005105); CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"ercc6","kind":"target","name":"ERCC6","aka":["ERCC excision repair 6, chromatin remodeling factor","Chimeric ERCC6-PGBD3 protein","RAD26","ARMD5","CKN2"],"tldr":"ERCC6 (Chimeric ERCC6-PGBD3 protein) is a gene. The public catalogues list it as a drug target, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Lung cancer.","summary":"Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Fluorouracil. Open Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.92, affected pathway 0.61, animal model 0.47, genetic association 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3438","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3438"},{"label":"UniProt P0DP91","url":"https://www.uniprot.org/uniprotkb/P0DP91/entry"},{"label":"NCBI Gene 2074","url":"https://www.ncbi.nlm.nih.gov/gene/2074"},{"label":"Ensembl ENSG00000225830","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000225830"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERCC6","role":["drug-target","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3438","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3438","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0DP91","url":"https://www.uniprot.org/uniprotkb/P0DP91/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC6","url":"https://civicdb.org/features/1742","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000225830","url":"https://platform.opentargets.org/target/ENSG00000225830/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: lung cancer 0.57 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ERCC6: RNA low tissue specificity; no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (lung cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P0DP91","url":"https://www.uniprot.org/uniprotkb/P0DP91/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC6","url":"https://civicdb.org/features/1742","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Human Protein Atlas ERCC6 tissue","url":"https://www.proteinatlas.org/ENSG00000225830-ERCC6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000225830 associations","url":"https://platform.opentargets.org/target/ENSG00000225830/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3438","ensembl":"ENSG00000225830","uniprot":"P0DP91","entrez":"2074","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deloukas et al, Nature, 2004, \"The DNA sequence and comparative analysis of human chromosome 10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15164054/","biology":"Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterised by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF. Location: Nucleus (UniProt). Locus 10q11.23 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Lung cancer: Open Targets association 0.57 with lung cancer (MONDO_0008903)"],"targetClass":"other","prevalence":[]},{"id":"ereg","kind":"target","name":"EREG","aka":["epiregulin","Proepiregulin"],"tldr":"EREG (Proepiregulin) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Non-small-cell lung cancer.","summary":"Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation. Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling and by stimulating cell proliferation.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Cetuximab and Panitumumab. Open Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.88, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3443","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3443"},{"label":"UniProt O14944","url":"https://www.uniprot.org/uniprotkb/O14944/entry"},{"label":"NCBI Gene 2069","url":"https://www.ncbi.nlm.nih.gov/gene/2069"},{"label":"Ensembl ENSG00000124882","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124882"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EREG","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3443","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3443","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14944","url":"https://www.uniprot.org/uniprotkb/O14944/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EREG","url":"https://civicdb.org/features/1737","note":"3 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Lung Adenocarcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000124882","url":"https://platform.opentargets.org/target/ENSG00000124882/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA EREG: RNA tissue enriched (bone marrow 122 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas EREG tissue","url":"https://www.proteinatlas.org/ENSG00000124882-EREG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000124882 associations","url":"https://platform.opentargets.org/target/ENSG00000124882/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3443","ensembl":"ENSG00000124882","uniprot":"O14944","entrez":"2069","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Toyoda et al, Biochem. J, 1997, \"Distribution of mRNA for human epiregulin, a differentially expressed member of the epidermal growth factor family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9337852/","biology":"Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation. Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling and by stimulating cell proliferation. Location: Secreted, extracellular space; Cell membrane (UniProt). Locus 4q13.3 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"erg","kind":"target","name":"ERG","aka":["ETS transcription factor ERG","Transcriptional regulator ERG","erg-3","p55"],"tldr":"ERG (Transcriptional regulator ERG) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas, Prostate cancer, Non-Hodgkin lymphoma and 4 more.","summary":"Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes genetic literature 0.61, literature 1.00, genetic association 0.03, somatic mutation 0.83, animal model 0.57). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Angiosarcoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3446","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3446"},{"label":"UniProt P11308","url":"https://www.uniprot.org/uniprotkb/P11308/entry"},{"label":"NCBI Gene 2078","url":"https://www.ncbi.nlm.nih.gov/gene/2078"},{"label":"Ensembl ENSG00000157554","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000157554"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["sarcoma","prostate","non-hodgkin-lymphoma","leukaemia","neuroendocrine","all-leukemia","angiosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tomlins-tmprss2-ets-fusion-science-2005","paper-tcga-molecular-taxonomy-primary-prostate-cell-2015","paper-pettersson-tmprss2-erg-outcome-meta-analysis-cebp-2012"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERG","role":["oncogene-driver","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3446","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3446","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11308","url":"https://www.uniprot.org/uniprotkb/P11308/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERG","url":"https://civicdb.org/features/71","note":"1 evidence items, 0 assertions, 1 variants; diseases: B-lymphoblastic Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000157554","url":"https://platform.opentargets.org/target/ENSG00000157554/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: prostate cancer 0.58, sarcoma 0.67, neuroendocrine neoplasm 0.52, acute lymphoblastic leukaemia 0.54, non-Hodgkin lymphoma 0.56, leukaemia 0.56 (GraphQL API, CC0)"},{"label":"IntOGen ERG","url":"https://www.intogen.org/search?gene=ERG","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ERG: RNA tissue enhanced (blood vessel 38 nTPM); high antibody staining in 2 normal tissues. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Prostate cancer, Lymphoma, Leukaemia, Neuroendocrine tumours); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P11308","url":"https://www.uniprot.org/uniprotkb/P11308/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERG","url":"https://civicdb.org/features/71","note":"1 evidence items, 0 assertions, 1 variants; diseases: B-lymphoblastic Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"IntOGen ERG","url":"https://www.intogen.org/search?gene=ERG","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ERG tissue","url":"https://www.proteinatlas.org/ENSG00000157554-ERG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157554 associations","url":"https://platform.opentargets.org/target/ENSG00000157554/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3446","ensembl":"ENSG00000157554","uniprot":"P11308","entrez":"2078","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rao V.N. et al, Science, 1987, \"erg, a human ets-related gene on chromosome 21: alternative splicing, polyadenylation, and translation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3299708/","biology":"Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure. Location: Nucleus; Cytoplasm (UniProt). Locus 21q22.2 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.67 with sarcoma (MONDO_0005089)","Prostate cancer: Open Targets association 0.58 with prostate cancer (MONDO_0008315)","Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.56 with leukaemia (MONDO_0005059)","Neuroendocrine tumours: Open Targets association 0.52 with neuroendocrine neoplasm (MONDO_0019496)","Acute lymphoblastic leukaemia: Open Targets association 0.54 with acute lymphoblastic leukaemia (MONDO_0004967); CIViC evidence names this disease","Prostate cancer: gene fusion putting erg under an androgen-responsive promoter 25-46% depending on disease state"],"targetClass":"oncogene","prevalence":[{"cancerId":"prostate","pct":"25-46","measure":"Gene fusion putting ERG under an androgen-responsive promoter","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pub","note":"cBioPortal structural variants, samples with an ERG rearrangement: 152 of 333, 45.6%, in prad_tcga_pub, which reproduces the 46% the TCGA paper reports; 203 of 494, 41.1%, in prad_tcga_pan_can_atlas_2018; 305 of 1,013, 30.1%, in prad_p1000; 104 of 424, 24.5%, in prad_mcspc_mskcc_2020; 127 of 504, 25.2%, in prad_mskcc_2017; 544 of 2,260, 24.1%, in prostate_msk_2024; 528 of 2,069, 25.5%, in prad_msk_stopsack_2021; 134 of 444, 30.2%, in prad_su2c_2019; 62 of 150, 41.3%, in prad_su2c_2015. TMPRSS2 is the partner in almost all of them: 194 of the 203 TCGA PanCancer events, 305 of 305 in prad_p1000 and 128 of 134 in prad_su2c_2019, with SLC45A3 and NDRG1 supplying the rest."}]},{"id":"erlin2","kind":"target","name":"ERLIN2","aka":["ER lipid raft associated 2","Erlin-2","NET32","C8orf2","SPFH2","SPG18"],"tldr":"ERLIN2 (Erlin-2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1. Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex. Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signalling pathway.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.95, genetic association 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1356","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1356"},{"label":"UniProt O94905","url":"https://www.uniprot.org/uniprotkb/O94905/entry"},{"label":"NCBI Gene 11160","url":"https://www.ncbi.nlm.nih.gov/gene/11160"},{"label":"Ensembl ENSG00000147475","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147475"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERLIN2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1356","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1356","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O94905","url":"https://www.uniprot.org/uniprotkb/O94905/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147475","url":"https://platform.opentargets.org/target/ENSG00000147475/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1356","ensembl":"ENSG00000147475","uniprot":"O94905","entrez":"11160","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ikegawa et al, Cytogenet. Cell Genet, 1999, \"Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C. elegans C42.C1.9\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10449903/","biology":"Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1. Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex. Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signalling pathway. May promote ER retention of the SCAP-SREBF complex. Location: Endoplasmic reticulum membrane (UniProt). Locus 8p11.23 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"errfi1","kind":"target","name":"ERRFI1","aka":["ERBB receptor feedback inhibitor 1","MIG-6","GENE-33"],"tldr":"ERRFI1 (ERBB receptor feedback inhibitor 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Biliary tract cancer and Non-small-cell lung cancer.","summary":"Negative regulator of EGFR signalling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerisation.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 4 variants, naming Erlotinib and Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18185","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18185"},{"label":"UniProt Q9UJM3","url":"https://www.uniprot.org/uniprotkb/Q9UJM3/entry"},{"label":"NCBI Gene 54206","url":"https://www.ncbi.nlm.nih.gov/gene/54206"},{"label":"Ensembl ENSG00000116285","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116285"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["cholangiocarcinoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ERRFI1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18185","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18185","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UJM3","url":"https://www.uniprot.org/uniprotkb/Q9UJM3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERRFI1","url":"https://civicdb.org/features/12271","note":"2 evidence items, 0 assertions, 4 variants; diseases: Cholangiocarcinoma, Lung Non-small Cell Carcinoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ERRFI1: RNA tissue enhanced (liver 695 nTPM, pancreas 640 nTPM); blood lineage lineage enriched (monocytes 2 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ERRFI1 tissue","url":"https://www.proteinatlas.org/ENSG00000116285-ERRFI1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116285 associations","url":"https://platform.opentargets.org/target/ENSG00000116285/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18185","ensembl":"ENSG00000116285","uniprot":"Q9UJM3","entrez":"54206","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wick et al, Exp. Cell Res, 1995, \"Identification of a novel mitogen-inducible gene (mig-6): regulation during G1 progression and differentiation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7641805/","biology":"Negative regulator of EGFR signalling in skin morphogenesis. Acts as a negative regulator for several EGFR family members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFR catalytic activity by interfering with its dimerisation. Inhibits autophosphorylation of EGFR, ERBB2 and ERBB4. Important for normal keratinocyte proliferation and differentiation. Plays a role in modulating the response to steroid hormones in the uterus. Location: Cytoplasm; Cell membrane; Nucleus (UniProt). Locus 1p36.23 (HGNC).","whereFound":["Biliary tract cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"epor","kind":"target","name":"Erythropoietin receptor (EPOR)","aka":[],"tldr":"The receptor that tells the marrow to make red blood cells. Epoetin stimulates it to treat chemotherapy-induced anaemia, used with care because it can raise the risk of blood clots and, in some cancers, tumour growth.","summary":"Erythropoietin from the kidney binds EPOR on erythroid progenitors and signals through JAK2 and STAT5 to drive red cell production. Recombinant epoetin alfa and darbepoetin alfa raise haemoglobin and reduce transfusions in patients with chemotherapy-induced anaemia, but trials showed shorter survival and more thromboembolism when they were used to target normal haemoglobin levels or given outside chemotherapy, leading to restricted labels and a risk management programme in the United States. They are now used at the lowest dose that avoids transfusion, in patients on palliative-intent chemotherapy.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Erythropoietin_receptor","links":[{"label":"UniProt P19235: EPOR","url":"https://www.uniprot.org/uniprotkb/P19235/entry"}],"tags":[],"related":["jak2"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["epoetin-alfa","darbepoetin-alfa"],"companies":[],"institutions":[],"pathways":[],"terms":["anaemia"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"EPOR","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 3 medicines aimed at it (Epoetin alfa, Darbepoetin alfa, Epoetin theta) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA EPOR: RNA low tissue specificity; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (myelodysplastic syndrome). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EPOR tissue","url":"https://www.proteinatlas.org/ENSG00000187266-EPOR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187266 associations","url":"https://platform.opentargets.org/target/ENSG00000187266/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3416","ensembl":"ENSG00000187266","uniprot":"P19235","entrez":"2057","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Winkelmann J.C. et al, Blood, 1990, \"The gene for the human erythropoietin receptor: analysis of the coding sequence and assignment to chromosome 19p\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2163695/","biology":"Cytokine receptor on erythroid progenitors signalling through JAK2 and STAT5; agonised by recombinant erythropoiesis-stimulating agents.","whereFound":["Supportive care: chemotherapy-induced anaemia","Expressed on some tumour cells, the basis of the safety concern"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"host","measure":"Host target: erythropoietin receptor on marrow red-cell precursors. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"esr2","kind":"target","name":"ESR2","aka":["estrogen receptor 2","Estrogen receptor beta","NR3A2","Erb","ER-beta"],"tldr":"ESR2 (Oestrogen receptor beta) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Breast cancer and Prostate cancer.","summary":"Nuclear hormone receptor. Binds oestrogens with an affinity similar to that of ESR1/ER-alpha, and activates expression of reporter genes containing oestrogen response elements (ERE) in an oestrogen-dependent manner. Lacks ligand binding ability and has no or only very low ERE binding activity resulting in the loss of ligand-dependent transactivation ability.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 3 variants, naming Tamoxifen and Exemestane. Open Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes clinical 0.98, affected pathway 0.61, literature 1.00, genetic association 0.54, animal model 0.51).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3468","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3468"},{"label":"UniProt Q92731","url":"https://www.uniprot.org/uniprotkb/Q92731/entry"},{"label":"NCBI Gene 2100","url":"https://www.ncbi.nlm.nih.gov/gene/2100"},{"label":"Ensembl ENSG00000140009","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140009"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.98; CIViC holds 7 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ESR2","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3468","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3468","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92731","url":"https://www.uniprot.org/uniprotkb/Q92731/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ESR2","url":"https://civicdb.org/features/1753","note":"7 evidence items, 0 assertions, 3 variants; diseases: Breast Cancer, Prostate Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000140009","url":"https://platform.opentargets.org/target/ENSG00000140009/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: breast cancer 0.62 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ESR2: RNA tissue enhanced (adrenal gland 7 nTPM, ovary 6 nTPM, testis 6 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Prostate cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (breast cancer). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ESR2 tissue","url":"https://www.proteinatlas.org/ENSG00000140009-ESR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000140009 associations","url":"https://platform.opentargets.org/target/ENSG00000140009/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3468","ensembl":"ENSG00000140009","uniprot":"Q92731","entrez":"2100","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mosselman et al, FEBS Lett, 1996, \"ER beta: identification and characterization of a novel human estrogen receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8769313/","biology":"Nuclear hormone receptor. Binds oestrogens with an affinity similar to that of ESR1/ER-alpha, and activates expression of reporter genes containing oestrogen response elements (ERE) in an oestrogen-dependent manner. Lacks ligand binding ability and has no or only very low ERE binding activity resulting in the loss of ligand-dependent transactivation ability. Location: Nucleus (UniProt). Locus 14q23.2-q23.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.62 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Prostate cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"esrp1","kind":"target","name":"ESRP1","aka":["epithelial splicing regulatory protein 1","Epithelial splicing regulatory protein 1","FLJ20171","RBM35A"],"tldr":"ESRP1 (Epithelial splicing regulatory protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT).\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.89, animal model 0.64, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25966","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25966"},{"label":"UniProt Q6NXG1","url":"https://www.uniprot.org/uniprotkb/Q6NXG1/entry"},{"label":"NCBI Gene 54845","url":"https://www.ncbi.nlm.nih.gov/gene/54845"},{"label":"Ensembl ENSG00000104413","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104413"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ESRP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:25966","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25966","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6NXG1","url":"https://www.uniprot.org/uniprotkb/Q6NXG1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104413","url":"https://platform.opentargets.org/target/ENSG00000104413/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:25966","ensembl":"ENSG00000104413","uniprot":"Q6NXG1","entrez":"54845","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2. Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium. Location: Nucleus (UniProt). Locus 8q22.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"esrra","kind":"target","name":"ESRRA","aka":["estrogen related receptor alpha","Steroid hormone receptor ERR1","ERR1","ERRalpha","NR3B1","ERRa","ESRL1"],"tldr":"ESRRA (Steroid hormone receptor ERR1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Salivary gland cancers and Adenoid cystic carcinoma.","summary":"Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Adenoid Cystic Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3471","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3471"},{"label":"UniProt P11474","url":"https://www.uniprot.org/uniprotkb/P11474/entry"},{"label":"NCBI Gene 2101","url":"https://www.ncbi.nlm.nih.gov/gene/2101"},{"label":"Ensembl ENSG00000173153","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173153"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["salivary-gland","adenoid-cystic-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ESRRA","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3471","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3471","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11474","url":"https://www.uniprot.org/uniprotkb/P11474/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ESRRA","url":"https://www.intogen.org/search?gene=ESRRA","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3471","ensembl":"ENSG00000173153","uniprot":"P11474","entrez":"2101","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Giguere et al, Nature, 1988, \"Identification of a new class of steroid hormone receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3267207/","biology":"Binds to an ERR-alpha response element (ERRE) containing a single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to the medium-chain acyl coenzyme A dehydrogenase (MCAD) response element NRRE-1 and may act as an important regulator of MCAD promoter. Binds to the C1 region of the lactoferrin gene promoter. Requires dimerisation and the coactivator, PGC-1A, for full activity. The ERRalpha/PGC1alpha complex is a regulator of energy metabolism. Induces the expression of PERM1 in the skeletal muscle. Location: Nucleus; Cytoplasm (UniProt). Locus 11q13.1 (HGNC).","whereFound":["Salivary gland cancers: IntOGen driver in 1 cohort (ACYC)","Adenoid cystic carcinoma: IntOGen driver in 1 cohort (ACYC)"],"targetClass":"oncogene","prevalence":[]},{"id":"estrogen-receptor","kind":"target","name":"Estrogen receptor (ERα)","aka":[],"tldr":"The hormone switch that drives most breast cancers. Blocking or destroying it is the oldest and most effective targeted therapy.","summary":"Tamoxifen (SERM), aromatase inhibitors, fulvestrant (SERD), oral SERDs (elacestrant, imlunestrant, camizestrant), and the PROTAC degrader vepdegestrant (approved 2026 for ESR1-mutant disease) form the endocrine armamentarium. ESR1 mutations arise under aromatase-inhibitor pressure and are detected by ctDNA.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Estrogen_receptor_alpha","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Estrogen_receptor_alpha"}],"tags":["hormonal"],"related":["er-status","esr1-mutation-ctdna"],"cancers":["breast-hr-positive","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":["fluoroestradiol-f18","guardant360-cdx","toremifene","raloxifene","lns8801"],"companies":[],"institutions":[],"pathways":["er-signaling","breast-cancer-signalling","chemical-carcinogenesis-receptor-activation","endometrial-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"ESR1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Breast Invasive Carcinoma (TCGA), Uterine Corpus Endometrial Carcinoma (TCGA)) and tissue enhanced in normal cervix, endometrium 1, fallopian tube, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA ESR1: RNA tissue enhanced (cervix 81 nTPM, endometrium 1 104 nTPM, fallopian tube 61 nTPM); high antibody staining in 3 normal tissues; highest cancer staining breast cancer (7 of 10 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Endometrial cancer); approvals of single-target medicines aimed at it also list Ovarian cancer, not counted; Open Targets associates it with 4 specific cancer types at or above 0.5 (breast cancer, breast carcinoma, breast adenocarcinoma, prostate cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ESR1 tissue","url":"https://www.proteinatlas.org/ENSG00000091831-ESR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas ESR1 pathology","url":"https://www.proteinatlas.org/ENSG00000091831-ESR1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000091831 associations","url":"https://platform.opentargets.org/target/ENSG00000091831/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3467","ensembl":"ENSG00000091831","uniprot":"P03372","entrez":"2099","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Green et al, Nature, 1986, \"Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3754034/","biology":"Ligand-activated nuclear receptor; ESR1 Y537S/D538G mutations render it ligand-independent.","whereFound":["HR+ breast cancer (~70% of breast cancers)","Endometrial","Ovarian (low-grade serous)"],"targetClass":"nuclear-receptor","prevalence":[{"cancerId":"breast-hr-positive","pct":100,"measure":"ER+ (>=1% IHC), defining","source":"https://en.wikipedia.org/wiki/Estrogen_receptor_alpha","note":"~70% of all breast cancers; ESR1 mutation ~30% after AI"},{"cancerId":"endometrial","pct":"70-80","measure":"ER expression (endometrioid)","source":"https://en.wikipedia.org/wiki/Estrogen_receptor_alpha"}]},{"id":"etnk1","kind":"target","name":"ETNK1","aka":["ethanolamine kinase 1","Ethanolamine kinase 1","EKI1"],"tldr":"ETNK1 (Ethanolamine kinase 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia, Breast cancer and Myeloproliferative neoplasms.","summary":"Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.78, genetic association 0.18, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24649","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24649"},{"label":"UniProt Q9HBU6","url":"https://www.uniprot.org/uniprotkb/Q9HBU6/entry"},{"label":"NCBI Gene 55500","url":"https://www.ncbi.nlm.nih.gov/gene/55500"},{"label":"Ensembl ENSG00000139163","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139163"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","breast-cancer","myeloproliferative-neoplasms"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ETNK1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:24649","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24649","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HBU6","url":"https://www.uniprot.org/uniprotkb/Q9HBU6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000139163","url":"https://platform.opentargets.org/target/ENSG00000139163/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: myeloproliferative neoplasm 0.51, breast cancer 0.51, leukaemia 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:24649","ensembl":"ENSG00000139163","uniprot":"Q9HBU6","entrez":"55500","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lykidis et al, J. Biol. Chem, 2001, \"Overexpression of a mammalian ethanolamine-specific kinase accelerates the CDP-ethanolamine pathway\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11044454/","biology":"Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis. Location: Cytoplasm (UniProt). Locus 12p12.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.52 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)","Myeloproliferative neoplasms: Open Targets association 0.51 with myeloproliferative neoplasm (MONDO_0020076)"],"targetClass":"kinase","prevalence":[]},{"id":"ets1","kind":"target","name":"ETS1","aka":["ETS proto-oncogene 1, transcription factor","FLJ10768","ETS-1","EWSR2"],"tldr":"ETS1 (ETS proto-oncogene 1, transcription factor) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3488","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3488"},{"label":"UniProt P14921","url":"https://www.uniprot.org/uniprotkb/P14921/entry"},{"label":"NCBI Gene 2113","url":"https://www.ncbi.nlm.nih.gov/gene/2113"},{"label":"Ensembl ENSG00000134954","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134954"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ETS1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3488","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3488","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14921","url":"https://www.uniprot.org/uniprotkb/P14921/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETS1","url":"https://civicdb.org/features/1762","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ETS1: RNA tissue enhanced (lymphoid tissue 253 nTPM); high antibody staining in 4 normal tissues; highest cancer staining lymphoma (5 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ETS1 tissue","url":"https://www.proteinatlas.org/ENSG00000134954-ETS1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000134954 associations","url":"https://platform.opentargets.org/target/ENSG00000134954/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3488","ensembl":"ENSG00000134954","uniprot":"P14921","entrez":"2113","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Watson D.K. et al, Proc. Natl. Acad. Sci. U.S.A, 1985, \"The ets sequence from the transforming gene of avian erythroblastosis virus, E26, has unique domains on human chromosomes 11 and 21: both loci are transcriptionally active\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2997781/","biology":"Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion. Acts as a dominant-negative for isoform c-ETS-1A. Location: Nucleus; Cytoplasm (UniProt). Locus 11q24.3 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"ets2","kind":"target","name":"ETS2","aka":["ETS proto-oncogene 2, transcription factor"],"tldr":"ETS2 (ETS proto-oncogene 2, transcription factor) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Paclitaxel and Cisplatin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3489","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3489"},{"label":"UniProt P15036","url":"https://www.uniprot.org/uniprotkb/P15036/entry"},{"label":"NCBI Gene 2114","url":"https://www.ncbi.nlm.nih.gov/gene/2114"},{"label":"Ensembl ENSG00000157557","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000157557"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ETS2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3489","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3489","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15036","url":"https://www.uniprot.org/uniprotkb/P15036/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETS2","url":"https://civicdb.org/features/1763","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ETS2: RNA low tissue specificity; blood lineage group enriched (dendritic cells 34 nTPM, granulocytes 37 nTPM, monocytes 33 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ETS2 tissue","url":"https://www.proteinatlas.org/ENSG00000157557-ETS2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157557 associations","url":"https://platform.opentargets.org/target/ENSG00000157557/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3489","ensembl":"ENSG00000157557","uniprot":"P15036","entrez":"2114","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Watson D.K. et al, Proc. Natl. Acad. Sci. U.S.A, 1985, \"The ets sequence from the transforming gene of avian erythroblastosis virus, E26, has unique domains on human chromosomes 11 and 21: both loci are transcriptionally active\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2997781/","biology":"Transcription factor activating transcription. Binds specifically the DNA GGAA/T core motif (Ets-binding site or EBS) in gene promoters and stimulates transcription. Location: Nucleus (UniProt). Locus 21q22.2 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"etv1","kind":"target","name":"ETV1","aka":["ETS variant transcription factor 1","ETS translocation variant 1","ER81"],"tldr":"ETV1 (ETS translocation variant 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Pancreatic ductal adenocarcinoma, Breast cancer and 4 more.","summary":"Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'. Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH).\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Trametinib. Open Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.97, genetic association 0.42, somatic mutation 0.83, animal model 0.39). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Invasive Breast Carcinoma, Colon Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3490","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3490"},{"label":"UniProt P50549","url":"https://www.uniprot.org/uniprotkb/P50549/entry"},{"label":"NCBI Gene 2115","url":"https://www.ncbi.nlm.nih.gov/gene/2115"},{"label":"Ensembl ENSG00000006468","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000006468"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","pancreatic","breast-cancer","colorectal","prostate","gastric","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-molecular-taxonomy-primary-prostate-cell-2015"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ETV1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3490","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3490","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50549","url":"https://www.uniprot.org/uniprotkb/P50549/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV1","url":"https://civicdb.org/features/1764","note":"2 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000006468","url":"https://platform.opentargets.org/target/ENSG00000006468/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: gastric cancer 0.52, prostate cancer 0.57, sarcoma 0.50, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen ETV1","url":"https://www.intogen.org/search?gene=ETV1","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ETV1: RNA tissue enhanced (brain 124 nTPM, salivary gland 85 nTPM); no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Pancreatic ductal adenocarcinoma, Breast cancer (all types), Colorectal cancer, Prostate cancer, Gastric & gastro-oesophageal junction cancer, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P50549","url":"https://www.uniprot.org/uniprotkb/P50549/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV1","url":"https://civicdb.org/features/1764","note":"2 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"IntOGen ETV1","url":"https://www.intogen.org/search?gene=ETV1","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ETV1 tissue","url":"https://www.proteinatlas.org/ENSG00000006468-ETV1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000006468 associations","url":"https://platform.opentargets.org/target/ENSG00000006468/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3490","ensembl":"ENSG00000006468","uniprot":"P50549","entrez":"2115","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jeon I.-S. et al, Oncogene, 1995, \"A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7700648/","biology":"Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'. Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH). Location: Nucleus (UniProt). Locus 7p21.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903); CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Breast cancer: IntOGen driver in 1 cohort (BRCA)","Colorectal cancer: IntOGen driver in 1 cohort (COAD)","Prostate cancer: Open Targets association 0.57 with prostate cancer (MONDO_0008315)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)","Prostate cancer: fusion of a non-erg ets transcription factor, usually to tmprss2 or slc45a3 1-14% depending on disease state"],"targetClass":"transcription","prevalence":[{"cancerId":"prostate","pct":"1-14","measure":"Fusion of a non-ERG ETS transcription factor, usually to TMPRSS2 or SLC45A3","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pub","note":"cBioPortal, samples: in prad_tcga_pub, ETV1 29 of 333 (8.7%), ETV4 16 (4.8%) and FLI1 4 (1.2%), matching the TCGA paper's 8%, 4% and 1%; in prad_tcga_pan_can_atlas_2018, ETV1 11, ETV4 12 and ETV5 2 of 494; in prad_p1000, ETV1 45, ETV4 23 and FLI1 5 of 1,013; in prad_su2c_2019, ETV1 22, ETV4 12, ETV5 3 and FLI1 1 of 444. Counting any ETS fusion together: 224 of 494, 45.3%, in prad_tcga_pan_can_atlas_2018; 378 of 1,013, 37.3%, in prad_p1000; 172 of 444, 38.7%, in prad_su2c_2019; 564 of 2,260, 25.0%, in prostate_msk_2024."}]},{"id":"etv4","kind":"target","name":"ETV4","aka":["ETS variant transcription factor 4","ETS translocation variant 4","E1A-F","E1AF","PEA3"],"tldr":"ETV4 (ETS translocation variant 4) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer, Lung cancer, Pancreatic ductal adenocarcinoma and 1 more.","summary":"Transcriptional activator. Regulates the positioning of motor neurons within the lateral medial column of the spinal cord and controls the terminal arborisation of specific motor neuron axons within their target muscles. Required for the expression of CDH8 and SEMA3E in ETV4-expressing motor neurons and for the exclusion of CDH7 expression from these neurons.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Trametinib. Open Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.99, animal model 0.41, genetic association 0.23, somatic mutation 0.97). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Neuroblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3493","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3493"},{"label":"UniProt P43268","url":"https://www.uniprot.org/uniprotkb/P43268/entry"},{"label":"NCBI Gene 2118","url":"https://www.ncbi.nlm.nih.gov/gene/2118"},{"label":"Ensembl ENSG00000175832","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175832"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["prostate","lung-cancer","pancreatic","neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ETV4","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3493","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3493","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P43268","url":"https://www.uniprot.org/uniprotkb/P43268/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV4","url":"https://civicdb.org/features/1767","note":"3 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer, Prostate Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000175832","url":"https://platform.opentargets.org/target/ENSG00000175832/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: prostate cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen ETV4","url":"https://www.intogen.org/search?gene=ETV4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ETV4: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining colorectal cancer (5 of 12 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Lung cancer (all types), Pancreatic ductal adenocarcinoma, Childhood cancers (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P43268","url":"https://www.uniprot.org/uniprotkb/P43268/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV4","url":"https://civicdb.org/features/1767","note":"3 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer, Prostate Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"IntOGen ETV4","url":"https://www.intogen.org/search?gene=ETV4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ETV4 tissue","url":"https://www.proteinatlas.org/ENSG00000175832-ETV4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000175832 associations","url":"https://platform.opentargets.org/target/ENSG00000175832/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3493","ensembl":"ENSG00000175832","uniprot":"P43268","entrez":"2118","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Higashino et al, Nucleic Acids Res, 1993, \"Isolation of a cDNA encoding the adenovirus E1A enhancer binding protein: a new human member of the ets oncogene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8441666/","biology":"Transcriptional activator. Regulates the positioning of motor neurons within the lateral medial column of the spinal cord and controls the terminal arborisation of specific motor neuron axons within their target muscles. Required for the expression of CDH8 and SEMA3E in ETV4-expressing motor neurons and for the exclusion of CDH7 expression from these neurons. May play a role in keratinocyte differentiation. Location: Nucleus (UniProt). Locus 17q21.31 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.58 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Lung cancer: CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Neuroblastoma: IntOGen driver in 1 cohort (NBL)"],"targetClass":"oncogene","prevalence":[]},{"id":"etv5","kind":"target","name":"ETV5","aka":["ETS variant transcription factor 5","ETS translocation variant 5"],"tldr":"ETV5 (ETS translocation variant 5) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Pancreatic ductal adenocarcinoma, Neuroendocrine tumours and 4 more.","summary":"Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Trametinib. Open Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.20, somatic mutation 0.85). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3494","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3494"},{"label":"UniProt P41161","url":"https://www.uniprot.org/uniprotkb/P41161/entry"},{"label":"NCBI Gene 2119","url":"https://www.ncbi.nlm.nih.gov/gene/2119"},{"label":"Ensembl ENSG00000244405","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000244405"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","pancreatic","neuroendocrine","skin-cancer","breast-cancer","colorectal","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ETV5","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3494","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3494","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P41161","url":"https://www.uniprot.org/uniprotkb/P41161/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV5","url":"https://civicdb.org/features/1768","note":"2 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000244405","url":"https://platform.opentargets.org/target/ENSG00000244405/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.51, neuroendocrine neoplasm 0.56, skin cancer 0.52, breast cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen ETV5","url":"https://www.intogen.org/search?gene=ETV5","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ETV5: RNA low tissue specificity; high antibody staining in 16 normal tissues; highest cancer staining testis cancer (9 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Pancreatic ductal adenocarcinoma, Neuroendocrine tumours, Skin cancer (all types), Breast cancer (all types), Colorectal cancer, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P41161","url":"https://www.uniprot.org/uniprotkb/P41161/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV5","url":"https://civicdb.org/features/1768","note":"2 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"IntOGen ETV5","url":"https://www.intogen.org/search?gene=ETV5","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ETV5 tissue","url":"https://www.proteinatlas.org/ENSG00000244405-ETV5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000244405 associations","url":"https://platform.opentargets.org/target/ENSG00000244405/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3494","ensembl":"ENSG00000244405","uniprot":"P41161","entrez":"2119","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Monte et al, Oncogene, 1994, \"Molecular cloning and characterization of human ERM, a new member of the Ets family closely related to mouse PEA3 and ER81 transcription factors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8152800/","biology":"Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'. Location: Nucleus (UniProt). Locus 3q27.2 (HGNC).","whereFound":["Lung cancer: CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Neuroendocrine tumours: Open Targets association 0.56 with neuroendocrine neoplasm (MONDO_0019496)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)"],"targetClass":"oncogene","prevalence":[]},{"id":"etv6","kind":"target","name":"ETV6","aka":["ETS variant transcription factor 6","Transcription factor ETV6"],"tldr":"ETV6 (Transcription factor ETV6) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.","summary":"Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in haematopoiesis and malignant transformation.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 7 variants. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.95, literature 0.96, genetic association 0.39, somatic mutation 0.86, animal model 0.63). IntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Acute Lymphoblastic Leukaemia, Bladder Urothelial Carcinoma, Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3495","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3495"},{"label":"UniProt P41212","url":"https://www.uniprot.org/uniprotkb/P41212/entry"},{"label":"NCBI Gene 2120","url":"https://www.ncbi.nlm.nih.gov/gene/2120"},{"label":"Ensembl ENSG00000139083","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139083"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","non-hodgkin-lymphoma","mds","sarcoma","urothelial","breast-cancer","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 9 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Haematologic Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ETV6","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3495","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3495","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P41212","url":"https://www.uniprot.org/uniprotkb/P41212/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV6","url":"https://civicdb.org/features/1769","note":"9 evidence items, 0 assertions, 7 variants; diseases: Haematologic Cancer, Acute Lymphoblastic Leukaemia, Myelodysplastic Syndrome (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000139083","url":"https://platform.opentargets.org/target/ENSG00000139083/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: sarcoma 0.58, acute myeloid leukaemia 0.64, acute lymphoblastic leukaemia 0.67, non-Hodgkin lymphoma 0.73, myeloproliferative neoplasm 0.75, breast cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen ETV6","url":"https://www.intogen.org/search?gene=ETV6","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ETV6: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining breast cancer (3 of 9 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Lymphoma, Sarcomas (soft tissue, bone, GIST), Bladder & urothelial cancer, Breast cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (thrombocytopenia 5, acute myeloid leukemia, acute lymphoblastic leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P41212","url":"https://www.uniprot.org/uniprotkb/P41212/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV6","url":"https://civicdb.org/features/1769","note":"9 evidence items, 0 assertions, 7 variants; diseases: Haematologic Cancer, Acute Lymphoblastic Leukaemia, Myelodysplastic Syndrome (GraphQL API, CC0)"},{"label":"IntOGen ETV6","url":"https://www.intogen.org/search?gene=ETV6","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ETV6 tissue","url":"https://www.proteinatlas.org/ENSG00000139083-ETV6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139083 associations","url":"https://platform.opentargets.org/target/ENSG00000139083/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3495","ensembl":"ENSG00000139083","uniprot":"P41212","entrez":"2120","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Golub T.R. et al, Cell, 1994, \"Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8168137/","biology":"Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in haematopoiesis and malignant transformation. Location: Nucleus (UniProt). Locus 12p13.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.79 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.75 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.73 with non-Hodgkin lymphoma (MONDO_0018908)","Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease","Sarcomas: Open Targets association 0.58 with sarcoma (MONDO_0005089)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"transcription","prevalence":[]},{"id":"ewsr1-fli1","kind":"target","name":"EWSR1-FLI1 fusion","aka":[],"tldr":"The fused gene that defines Ewing sarcoma: an aberrant transcription factor that has resisted 30 years of drug design.","summary":"The t(11;22) fusion joins the low-complexity prion-like domain of EWSR1 to the DNA-binding domain of FLI1, creating a neomorphic transcription factor that binds GGAA microsatellites, opens chromatin (with BAF complex) and reprograms the cell. It is present in ~85% of Ewing sarcoma (EWSR1-ERG in most of the rest) and is the sole recurrent driver. Direct inhibition attempts (TK216/mithramycin analogues, YK-4-279) failed clinically; indirect strategies target its dependencies: LSD1 (seclidemstat), PARP/DNA damage response (trabectedin, lurbinectedin, PARP inhibitors), cell-cycle (CDK4/6, WEE1), IGF-1R (antibodies failed), and degraders. Detection by FISH/RT-PCR/RNA-seq is diagnostic; fusion ctDNA is an emerging MRD marker.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/EWS/FLI","links":[{"label":"Delattre 1992 (Nature)","url":"https://doi.org/10.1038/359162a0"}],"tags":["gap-fill"],"related":[],"cancers":["ewing-sarcoma","sarcoma"],"sections":[],"technologies":["protac-degrader","cytogenetics-fish","rna-seq"],"targets":[],"drugs":["lurbinectedin","trabectedin"],"companies":[],"institutions":[],"pathways":[],"terms":["gene-fusion"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-delattre-nature"],"journals":[],"dependsOn":[],"notes":[],"symbol":"EWSR1::FLI1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists EWSR1 among essential proteins and finds the RNA at low tissue specificity; the 3 medicines aimed at it (Lurbinectedin, Trabectedin, TK216) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA EWSR1: RNA low tissue specificity; high antibody staining in 39 normal tissues; highest cancer staining lung cancer (5 of 12 high). HPA FLI1: RNA tissue enhanced (lymphoid tissue 66 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EWSR1 tissue","url":"https://www.proteinatlas.org/ENSG00000182944-EWSR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas FLI1 tissue","url":"https://www.proteinatlas.org/ENSG00000151702-FLI1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000182944 associations","url":"https://platform.opentargets.org/target/ENSG00000182944/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000151702 associations","url":"https://platform.opentargets.org/target/ENSG00000151702/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"EWSR1-FLI1 is a fusion oncoprotein; the EWSR1 domain drives phase separation and recruits BAF, while the FLI1 ETS domain binds GGAA repeats to activate (e.g. NR0B1, NKX2-2) and, at canonical ETS sites, repress (e.g. TGFBR2, IGFBP3) target genes.","whereFound":["Ewing sarcoma (~85%)","EWSR1 fusions with other partners define desmoplastic small round cell tumour (EWSR1-WT1), clear cell sarcoma (EWSR1-ATF1), myxoid liposarcoma (FUS/EWSR1-DDIT3)"],"targetClass":"transcription","prevalence":[{"cancerId":"ewing-sarcoma","pct":"85","measure":"EWSR1-FLI1 fusion","source":"https://doi.org/10.1038/359162a0"}]},{"id":"exo1","kind":"target","name":"EXO1","aka":["exonuclease 1","Exonuclease 1","HEX1","hExoI"],"tldr":"EXO1 (Exonuclease 1) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"5'->3' double-stranded DNA exonuclease which may also possess a cryptic 3'->5' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch-containing DNA tracts directed by strand breaks located either 5' or 3' to the mismatch. Also exhibits endonuclease activity against 5'-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.87, genetic association 0.74, genetic literature 0.01).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3511","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3511"},{"label":"UniProt Q9UQ84","url":"https://www.uniprot.org/uniprotkb/Q9UQ84/entry"},{"label":"NCBI Gene 9156","url":"https://www.ncbi.nlm.nih.gov/gene/9156"},{"label":"Ensembl ENSG00000174371","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000174371"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["mismatch-repair-msi"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EXO1","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3511","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3511","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UQ84","url":"https://www.uniprot.org/uniprotkb/Q9UQ84/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000174371","url":"https://platform.opentargets.org/target/ENSG00000174371/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: breast cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3511","ensembl":"ENSG00000174371","uniprot":"Q9UQ84","entrez":"9156","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schmutte et al, Cancer Res, 1998, \"Human exonuclease I interacts with the mismatch repair protein hMSH2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9788596/","biology":"5'->3' double-stranded DNA exonuclease which may also possess a cryptic 3'->5' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch-containing DNA tracts directed by strand breaks located either 5' or 3' to the mismatch. Also exhibits endonuclease activity against 5'-overhanging flap structures similar to those generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. Required for somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin genes. Essential for male and female meiosis. Location: Nucleus (UniProt). Locus 1q43 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"xpo1","kind":"target","name":"Exportin-1 (XPO1)","aka":[],"tldr":"The export pump that carries tumour suppressor proteins such as p53 out of the nucleus, where they cannot act. Selinexor blocks it so those brakes stay in the nucleus and cancer cells die.","summary":"Exportin-1, also called CRM1, shuttles more than 200 cargo proteins from the nucleus to the cytoplasm, including p53, p21, FOXO, IkB and the eIF4E-bound oncogene messenger RNAs. Many cancers overexpress it, keeping tumour suppressors out of the nucleus. Selinexor binds covalently to cysteine 528 of XPO1, trapping the suppressors inside the nucleus; it is approved for relapsed multiple myeloma and diffuse large B-cell lymphoma, and is under study in TP53 wild-type endometrial cancer. Nausea, anorexia, weight loss and thrombocytopenia are its main side effects.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/XPO1","links":[{"label":"UniProt O14980: XPO1","url":"https://www.uniprot.org/uniprotkb/O14980/entry"}],"tags":[],"related":[],"cancers":["multiple-myeloma","dlbcl","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":["selinexor"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"XPO1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists XPO1 among essential proteins and finds the RNA at low tissue specificity; the 1 medicine aimed at it (Selinexor) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA XPO1: RNA low tissue specificity; high antibody staining in 29 normal tissues; highest cancer staining urothelial cancer (8 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma, Endometrial cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (plasma cell myeloma, B-cell chronic lymphocytic leukemia, diffuse large B-cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas XPO1 tissue","url":"https://www.proteinatlas.org/ENSG00000082898-XPO1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000082898 associations","url":"https://platform.opentargets.org/target/ENSG00000082898/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12825","ensembl":"ENSG00000082898","uniprot":"O14980","entrez":"7514","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fornerod et al, EMBO J, 1997, \"The human homologue of yeast CRM1 is in a dynamic subcomplex with CAN/Nup214 and the novel nuclear pore component Nup88\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9049309/","biology":"Karyopherin that exports nuclear export signal-bearing proteins and some RNAs; inhibited covalently by selinexor at Cys528.","whereFound":["Multiple myeloma","Diffuse large B-cell lymphoma","TP53 wild-type endometrial cancer (investigational)"],"targetClass":"other","prevalence":[{"cancerId":"hodgkin-lymphoma","pct":26,"measure":"XPO1 mutation (mostly E571K), sequencing, 5 of 19 cases","source":"https://doi.org/10.1002/ajh.24451","note":"Small series; the same study found XPO1 mutations in 24% of primary mediastinal B-cell lymphoma (28 of 117) and in under 2% of other diffuse large B-cell lymphoma"}]},{"id":"ext1","kind":"target","name":"EXT1","aka":["exostosin glycosyltransferase 1","Exostosin-1","ttv"],"tldr":"EXT1 (Exostosin-1) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Sarcomas, Breast cancer, Ovarian cancer and 2 more.","summary":"Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyses the elongation of the heparan sulfate glycan backbone. Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity within the complex while EXT2 carries the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity.\n\nOpen Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes genetic literature 0.81, affected pathway 0.30, literature 0.94, genetic association 0.75, somatic mutation 0.89, animal model 0.72).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3512","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3512"},{"label":"UniProt Q16394","url":"https://www.uniprot.org/uniprotkb/Q16394/entry"},{"label":"NCBI Gene 2131","url":"https://www.ncbi.nlm.nih.gov/gene/2131"},{"label":"Ensembl ENSG00000182197","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182197"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","breast-cancer","ovarian","skin-cancer","chondrosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EXT1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3512","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3512","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16394","url":"https://www.uniprot.org/uniprotkb/Q16394/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182197","url":"https://platform.opentargets.org/target/ENSG00000182197/associations","note":"association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: ovarian cancer 0.52, sarcoma 0.76, skin cancer 0.51, breast cancer 0.58, chondrosarcoma 0.75 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3512","ensembl":"ENSG00000182197","uniprot":"Q16394","entrez":"2131","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ahn et al, Nat. Genet, 1995, \"Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7550340/","biology":"Glycosyltransferase forming with EXT2 the heterodimeric heparan sulfate polymerase which catalyses the elongation of the heparan sulfate glycan backbone. Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity within the complex while EXT2 carries the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Heparan sulfate proteoglycans are ubiquitous components of the extracellular matrix and play an important role in tissue homeostasis and signalling. Location: Golgi apparatus membrane; Golgi apparatus, cis-Golgi network membrane; Endoplasmic reticulum membrane (UniProt). Locus 8q24.11 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.76 with sarcoma (MONDO_0005089)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.52 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Chondrosarcoma: Open Targets association 0.75 with chondrosarcoma (MONDO_0008977)"],"targetClass":"enzyme","prevalence":[]},{"id":"ext2","kind":"target","name":"EXT2","aka":["exostosin glycosyltransferase 2","Exostosin-2"],"tldr":"EXT2 (Exostosin-2) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Ovarian cancer, Skin cancer and Breast cancer.","summary":"Glycosyltransferase forming with EXT1 the heterodimeric heparan sulfate polymerase which catalyses the elongation of the heparan sulfate glycan backbone. Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity within the complex while EXT2 carries the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity.\n\nOpen Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes literature 0.84, affected pathway 0.25, genetic association 0.64, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3513","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3513"},{"label":"UniProt Q93063","url":"https://www.uniprot.org/uniprotkb/Q93063/entry"},{"label":"NCBI Gene 2132","url":"https://www.ncbi.nlm.nih.gov/gene/2132"},{"label":"Ensembl ENSG00000151348","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000151348"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["ovarian","skin-cancer","breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EXT2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3513","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3513","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q93063","url":"https://www.uniprot.org/uniprotkb/Q93063/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000151348","url":"https://platform.opentargets.org/target/ENSG00000151348/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: ovarian cancer 0.57, skin cancer 0.51, breast cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3513","ensembl":"ENSG00000151348","uniprot":"Q93063","entrez":"2132","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stickens D.J. et al, Nat. Genet, 1996, \"The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8782816/","biology":"Glycosyltransferase forming with EXT1 the heterodimeric heparan sulfate polymerase which catalyses the elongation of the heparan sulfate glycan backbone. Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity within the complex while EXT2 carries the glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Heparan sulfate proteoglycans are ubiquitous components of the extracellular matrix and play an important role in tissue homeostasis and signalling. Location: Golgi apparatus membrane; Golgi apparatus, cis-Golgi network membrane; Endoplasmic reticulum membrane; Secreted (UniProt). Locus 11p11.2 (HGNC).","whereFound":["Ovarian cancer: Open Targets association 0.57 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.50 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"ezh2","kind":"target","name":"EZH2","aka":["PRC2"],"tldr":"EZH2 is an enzyme that silences genes. The first drug against it treated a rare sarcoma and some lymphomas until it was withdrawn in 2026 for causing second blood cancers.","summary":"Tazemetostat was approved in epithelioid sarcoma (2020) and EZH2-mutant follicular lymphoma, but Ipsen withdrew it from all markets and indications on 9 March 2026 after the SYMPHONY-1 trial showed excess secondary haematologic malignancies (FDA alert March 2026). EZH2 inhibition continues to be explored (mevrometostat in prostate cancer; SCLC re-sensitisation), now under a safety cloud.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/EZH2","links":[{"label":"FDA alert: Tazverik withdrawal (March 2026)","url":"https://www.fda.gov/drugs/drug-alerts-and-statements/fda-alerts-health-care-providers-and-patients-about-increased-risk-new-blood-cancers-tazverik"},{"label":"Morin et al., Nat Genet 2010: somatic EZH2 Tyr641 mutations in follicular and germinal-centre diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/ng.518"}],"tags":["epigenetic"],"related":[],"cancers":["sarcoma","prostate","dlbcl","prostate-mcrpc","prostate-nepc","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["xnw5004"],"companies":["oric-pharmaceuticals","treeline-biosciences"],"institutions":[],"pathways":["micrornas-in-cancer","epigenetic-reprogramming"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-ku-rb1-trp53-lineage-plasticity-science-2017"],"journals":[],"dependsOn":[],"notes":["Prostate cancer: EZH2 and SOX2 are raised in the tumours that lose RB1 and TP53 and change lineage, and EZH2 inhibition restored androgen receptor expression and antiandrogen sensitivity in the mouse models, which is the rationale for the EZH2 inhibitor trials in this disease (Ku 2017).","Lymphoma, EZH2 gain of function: EZH2 is the catalytic subunit of polycomb repressive complex 2 and writes the H3K27 trimethyl mark. The lymphoma mutations replace a single tyrosine in the SET domain, Tyr641 in the numbering of the original report and Tyr646 in current usage, and they change what the enzyme can do rather than removing it: the mutant converts the di-methyl mark to the tri-methyl mark efficiently while losing the ability to make the first methylation, so a cell carrying one mutant and one wild-type allele piles up H3K27me3 and holds the germinal-centre programme shut. This is the opposite of the loss-of-function EZH2 mutation found in myeloid disease. Frequency: Tyr641 substitutions in 21.7% of germinal-centre diffuse large B-cell lymphomas and 7.2% of follicular lymphomas, and absent from activated B-cell-like cases (Morin 2010). What it changes about treatment: Yes, and it is one of only two genotype-selected drug choices in B-cell lymphoma. Tazemetostat is licensed for relapsed follicular lymphoma, with a higher response rate in the mutant group than in the wild-type group, and it is the reason an EZH2 mutation test is ordered at all."],"symbol":"EZH2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal bone marrow, lymphoid tissue, testis, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA EZH2: RNA tissue enhanced (bone marrow 24 nTPM, lymphoid tissue 34 nTPM, testis 25 nTPM); high antibody staining in 5 normal tissues; highest cancer staining skin cancer (12 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Sarcomas (soft tissue, bone, GIST), Prostate cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (diffuse large B-cell lymphoma, follicular lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EZH2 tissue","url":"https://www.proteinatlas.org/ENSG00000106462-EZH2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas EZH2 pathology","url":"https://www.proteinatlas.org/ENSG00000106462-EZH2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106462 associations","url":"https://platform.opentargets.org/target/ENSG00000106462/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3527","ensembl":"ENSG00000106462","uniprot":"Q15910","entrez":"2146","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen et al, Genomics, 1996, \"Cloning of a human homolog of the Drosophila enhancer of zeste gene (EZH2) that maps to chromosome 21q22.2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8954776/","biology":"Catalytic subunit of PRC2, writes H3K27me3.","whereFound":["Epithelioid sarcoma (INI1 loss)","Follicular lymphoma","Castration-resistant prostate cancer"],"targetClass":"enzyme","prevalence":[{"cancerId":"dlbcl","pct":"20-25","measure":"EZH2 Y641 mutation in follicular/GCB lymphoma","source":"https://en.wikipedia.org/wiki/EZH2","note":"Tazemetostat withdrawn March 2026"},{"cancerId":"sarcoma","pct":">90","measure":"INI1 (SMARCB1) loss in epithelioid sarcoma (EZH2 dependency)","source":"https://www.fda.gov/drugs/drug-alerts-and-statements/fda-alerts-health-care-providers-and-patients-about-increased-risk-new-blood-cancers-tazverik","note":"Tazemetostat withdrawn March 2026"},{"cancerId":"prostate","pct":"n/a","measure":"Overexpression in CRPC; no threshold","source":"https://en.wikipedia.org/wiki/EZH2"}]},{"id":"ezr","kind":"target","name":"EZR","aka":["ezrin","Ezrin","VIL2"],"tldr":"EZR (Ezrin) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Lung cancer.","summary":"Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.99, animal model 0.50, genetic association 0.00, somatic mutation 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12691","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12691"},{"label":"UniProt P15311","url":"https://www.uniprot.org/uniprotkb/P15311/entry"},{"label":"NCBI Gene 7430","url":"https://www.ncbi.nlm.nih.gov/gene/7430"},{"label":"Ensembl ENSG00000092820","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000092820"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"EZR","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12691","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12691","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15311","url":"https://www.uniprot.org/uniprotkb/P15311/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000092820","url":"https://platform.opentargets.org/target/ENSG00000092820/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: lung cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12691","ensembl":"ENSG00000092820","uniprot":"P15311","entrez":"7430","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gould K.L. et al, EMBO J, 1989, \"cDNA cloning and sequencing of the protein-tyrosine kinase substrate, ezrin, reveals homology to band 4.1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2591371/","biology":"Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis. Location: Apical cell membrane; Cell projection; Cell projection, microvillus membrane; Cell projection, ruffle membrane (UniProt). Locus 6q25.3 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)"],"targetClass":"other","prevalence":[]},{"id":"faap20","kind":"target","name":"FAAP20","aka":["FA core complex associated protein 20","Fanconi anemia core complex-associated protein 20","FLJ31031","C1orf86"],"tldr":"FAAP20 (Fanconi anaemia core complex-associated protein 20) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Component of the Fanconi anaemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognises and binds 'Lys-63'-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Interventional Radiology Procedure and PARP Inhibitor AZD2461.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26428","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26428"},{"label":"UniProt Q6NZ36","url":"https://www.uniprot.org/uniprotkb/Q6NZ36/entry"},{"label":"NCBI Gene 199990","url":"https://www.ncbi.nlm.nih.gov/gene/199990"},{"label":"Ensembl ENSG00000162585","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162585"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAAP20","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:26428","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26428","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6NZ36","url":"https://www.uniprot.org/uniprotkb/Q6NZ36/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FAAP20","url":"https://civicdb.org/features/19896","note":"2 evidence items, 0 assertions, 1 variants; diseases: Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA FAAP20: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (5 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FAAP20 tissue","url":"https://www.proteinatlas.org/ENSG00000162585-FAAP20/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162585 associations","url":"https://platform.opentargets.org/target/ENSG00000162585/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:26428","ensembl":"ENSG00000162585","uniprot":"Q6NZ36","entrez":"199990","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Component of the Fanconi anaemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognises and binds 'Lys-63'-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1. Location: Nucleus; Chromosome (UniProt). Locus 1p36.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fak","kind":"target","name":"FAK (PTK2)","aka":["FAK","FAK1","FADK","focal adhesion kinase","protein tyrosine kinase 2"],"tldr":"FAK is the kinase that tells a cell it is anchored to its surroundings, letting it survive, move and resist drugs. Defactinib, given with the RAF/MEK inhibitor avutometinib, removes that escape route in low-grade serous ovarian cancer; other FAK inhibitors are in trials in meningioma and solid tumours.","summary":"PTK2 (chromosome 8q24.3) encodes focal adhesion kinase 1, a non-receptor tyrosine kinase essential for cell migration, adhesion and spreading, actin reorganisation, the assembly and disassembly of focal adhesions, cell-cycle progression, proliferation and apoptosis; it transduces integrin signals and signals from growth-factor receptors, G protein-coupled receptors, EPHA2, netrin and LDL receptors, and is required for embryonic angiogenesis (UniProt Q05397). In OnCo, FAK is blocked by defactinib in the approved avutometinib-defactinib combination for KRAS-mutant low-grade serous ovarian cancer, where it removes an adhesion-driven escape route from MEK inhibition; by GSK2256098 in meningiomas that have lost the NF2 tumour suppressor merlin and depend on FAK (a synthetic-lethal approach); and by IN10018 in phase 3.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:9611","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9611"},{"label":"UniProt Q05397","url":"https://www.uniprot.org/uniprotkb/Q05397/entry"},{"label":"NCBI Gene 5747","url":"https://www.ncbi.nlm.nih.gov/gene/5747"}],"tags":["wave5-target"],"related":["kras","mek"],"cancers":["ovarian","low-grade-serous-ovarian-cancer","meningioma","pancreatic","nsclc"],"sections":[],"technologies":["kinase-inhibitors"],"targets":[],"drugs":["avutometinib-defactinib","gsk2256098","in10018"],"companies":[],"institutions":[],"pathways":["invasion-ecm-degradation","resistance-routes-map"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"PTK2","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PTK2 among essential proteins and finds the RNA at low tissue specificity; the 3 medicines aimed at it (Avutometinib + defactinib, GSK2256098, IN10018) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA PTK2: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining urothelial cancer (1 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Brain and spinal cord tumours (all types), Pancreatic ductal adenocarcinoma, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PTK2 tissue","url":"https://www.proteinatlas.org/ENSG00000169398-PTK2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169398 associations","url":"https://platform.opentargets.org/target/ENSG00000169398/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9611","ensembl":"ENSG00000169398","uniprot":"Q05397","entrez":"5747","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Whitney G.S. et al, DNA Cell Biol, 1993, \"Human T and B lymphocytes express a structurally conserved focal adhesion kinase, pp125FAK\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7692878/","biology":"The corpus records frame FAK as a resistance node rather than a driver: LGSOC cells arrest and regress only when FAK is blocked alongside RAF-MEK, and NF2-deficient meningioma depends on FAK signalling once merlin is lost.","whereFound":["Low-grade serous ovarian cancer (defactinib with avutometinib)","NF2-deficient meningioma (GSK2256098)","NSCLC, pancreatic, ovarian and small-cell lung cancer (IN10018 trials)"],"targetClass":"kinase","prevalence":[]},{"id":"fam114a2","kind":"target","name":"FAM114A2","aka":["family with sequence similarity 114 member A2","133K02","C5orf3"],"tldr":"FAM114A2 (family with sequence similarity 114 member A2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"UniProt has no function text for Q9NRY5; HGNC names it \"family with sequence similarity 114 member A2\".\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.12, affected pathway 0.89, genetic association 0.03).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1333","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1333"},{"label":"UniProt Q9NRY5","url":"https://www.uniprot.org/uniprotkb/Q9NRY5/entry"},{"label":"NCBI Gene 10827","url":"https://www.ncbi.nlm.nih.gov/gene/10827"},{"label":"Ensembl ENSG00000055147","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000055147"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAM114A2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1333","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1333","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NRY5","url":"https://www.uniprot.org/uniprotkb/Q9NRY5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000055147","url":"https://platform.opentargets.org/target/ENSG00000055147/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1333","ensembl":"ENSG00000055147","uniprot":"Q9NRY5","entrez":"10827","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Boultwood et al, Genomics, 2000, \"Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10843801/","biology":"UniProt has no function text for Q9NRY5; HGNC names it \"family with sequence similarity 114 member A2\". Locus 5q33.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fam131b","kind":"target","name":"FAM131B","aka":["family with sequence similarity 131 member B","KIAA0773"],"tldr":"FAM131B (family with sequence similarity 131 member B) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"UniProt has no function text for Q86XD5; HGNC names it \"family with sequence similarity 131 member B\".\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.12, affected pathway 0.89, genetic association 0.00, somatic mutation 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:22202","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22202"},{"label":"UniProt Q86XD5","url":"https://www.uniprot.org/uniprotkb/Q86XD5/entry"},{"label":"NCBI Gene 9715","url":"https://www.ncbi.nlm.nih.gov/gene/9715"},{"label":"Ensembl ENSG00000159784","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159784"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAM131B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:22202","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22202","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86XD5","url":"https://www.uniprot.org/uniprotkb/Q86XD5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000159784","url":"https://platform.opentargets.org/target/ENSG00000159784/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:22202","ensembl":"ENSG00000159784","uniprot":"Q86XD5","entrez":"9715","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hillier L.W. et al, Nature, 2003, \"The DNA sequence of human chromosome 7\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12853948/","biology":"UniProt has no function text for Q86XD5; HGNC names it \"family with sequence similarity 131 member B\". Locus 7q34 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fam135b","kind":"target","name":"FAM135B","aka":["family with sequence similarity 135 member B","C8ORFK32"],"tldr":"FAM135B (family with sequence similarity 135 member B) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Head and neck squamous cell carcinoma, Pancreatic ductal adenocarcinoma, Endometrial cancer and 4 more.","summary":"UniProt has no function text for Q49AJ0; HGNC names it \"family with sequence similarity 135 member B\".\n\nIntOGen calls it a driver in 9 cohorts (3 activating, 6 loss-of-function), covering Head and Neck Squamous Cell Carcinoma, Lung Squamous Cell Carcinoma, Pancreatic Adenocarcinoma, Endometrial Carcinoma, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumour, Well-Differentiated Thyroid Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28029","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28029"},{"label":"UniProt Q49AJ0","url":"https://www.uniprot.org/uniprotkb/Q49AJ0/entry"},{"label":"NCBI Gene 51059","url":"https://www.ncbi.nlm.nih.gov/gene/51059"},{"label":"Ensembl ENSG00000147724","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147724"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["head-and-neck","pancreatic","endometrial","thyroid","nsclc","uterine-carcinosarcoma","papillary-thyroid-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAM135B","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:28029","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28029","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q49AJ0","url":"https://www.uniprot.org/uniprotkb/Q49AJ0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FAM135B","url":"https://www.intogen.org/search?gene=FAM135B","note":"driver in 9 cohorts (Act 3, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:28029","ensembl":"ENSG00000147724","uniprot":"Q49AJ0","entrez":"51059","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mei et al, 1999.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q49AJ0/entry","biology":"UniProt has no function text for Q49AJ0; HGNC names it \"family with sequence similarity 135 member B\". Locus 8q24.23 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: IntOGen driver in 2 cohorts (HNSC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Non-small-cell lung cancer: IntOGen driver in 3 cohorts (LUSC)","Uterine carcinosarcoma: IntOGen driver in 1 cohort (UCS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fam174b","kind":"target","name":"FAM174B","aka":["family with sequence similarity 174 member B","Membrane protein FAM174B","LOC400451","MGC102891"],"tldr":"FAM174B (Membrane protein FAM174B) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Medulloblastoma and Paediatric low-grade glioma.","summary":"Essential for Golgi structural integrity.\n\nIntOGen calls it a driver in 3 cohorts (3 activating, 0 loss-of-function), covering Medulloblastoma, Pilocytic Astrocytoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:34339","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:34339"},{"label":"UniProt Q3ZCQ3","url":"https://www.uniprot.org/uniprotkb/Q3ZCQ3/entry"},{"label":"NCBI Gene 400451","url":"https://www.ncbi.nlm.nih.gov/gene/400451"},{"label":"Ensembl ENSG00000185442","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185442"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate","medulloblastoma","paediatric-low-grade-glioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAM174B","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:34339","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:34339","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q3ZCQ3","url":"https://www.uniprot.org/uniprotkb/Q3ZCQ3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FAM174B","url":"https://www.intogen.org/search?gene=FAM174B","note":"driver in 3 cohorts (Act 3, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:34339","ensembl":"ENSG00000185442","uniprot":"Q3ZCQ3","entrez":"400451","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Essential for Golgi structural integrity. Location: Cell membrane; Golgi apparatus (UniProt). Locus 15q26.1 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Medulloblastoma: IntOGen driver in 1 cohort (MBL)","Paediatric low-grade glioma: IntOGen driver in 1 cohort (PAST)"],"targetClass":"oncogene","prevalence":[]},{"id":"fanca","kind":"target","name":"FANCA","aka":["FA complementation group A","Fanconi anemia group A protein","FA-H","FANCH"],"tldr":"FANCA (Fanconi anaemia group A protein) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Skin cancer, Ovarian cancer and 5 more.","summary":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cisplatin. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.67, literature 0.95, genetic association 0.58, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3582"},{"label":"UniProt O15360","url":"https://www.uniprot.org/uniprotkb/O15360/entry"},{"label":"NCBI Gene 2175","url":"https://www.ncbi.nlm.nih.gov/gene/2175"},{"label":"Ensembl ENSG00000187741","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187741"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","skin-cancer","ovarian","prostate","myeloproliferative-neoplasms","lung-cancer","head-and-neck","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCA","role":["drug-target","oncogene-driver","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3582","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15360","url":"https://www.uniprot.org/uniprotkb/O15360/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FANCA","url":"https://civicdb.org/features/1810","note":"1 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000187741","url":"https://platform.opentargets.org/target/ENSG00000187741/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: colorectal cancer 0.50, gastric cancer 0.50, prostate cancer 0.52, ovarian cancer 0.60, melanoma 0.56, head and neck squamous cell carcinoma 0.52 (GraphQL API, CC0)"},{"label":"IntOGen FANCA","url":"https://www.intogen.org/search?gene=FANCA","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FANCA: RNA tissue enhanced (testis 21 nTPM); no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Skin cancer (all types), Ovarian cancer, Prostate cancer, Myeloid neoplasms, Lung cancer (all types), Head and neck squamous cell carcinoma and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O15360","url":"https://www.uniprot.org/uniprotkb/O15360/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FANCA","url":"https://civicdb.org/features/1810","note":"1 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"},{"label":"IntOGen FANCA","url":"https://www.intogen.org/search?gene=FANCA","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FANCA tissue","url":"https://www.proteinatlas.org/ENSG00000187741-FANCA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187741 associations","url":"https://platform.opentargets.org/target/ENSG00000187741/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3582","ensembl":"ENSG00000187741","uniprot":"O15360","entrez":"2175","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lo Ten Foe J.R. et al, Nat. Genet, 1996, \"Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8896563/","biology":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Location: Nucleus; Cytoplasm (UniProt). Locus 16q24.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.64 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.61 with skin cancer (MONDO_0002898)","Ovarian cancer: Open Targets association 0.60 with ovarian cancer (MONDO_0008170)","Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Myeloproliferative neoplasms: Open Targets association 0.56 with myeloproliferative neoplasm (MONDO_0020076)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)"],"targetClass":"oncogene","prevalence":[]},{"id":"fancb","kind":"target","name":"FANCB","aka":["FA complementation group B","Fanconi anemia group B protein","FLJ34064","FAAP95"],"tldr":"FANCB (Fanconi anaemia group B protein) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"DNA repair protein required for FANCD2 ubiquitination.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.72, genetic association 0.18, genetic literature 0.83).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3583"},{"label":"UniProt Q8NB91","url":"https://www.uniprot.org/uniprotkb/Q8NB91/entry"},{"label":"NCBI Gene 2187","url":"https://www.ncbi.nlm.nih.gov/gene/2187"},{"label":"Ensembl ENSG00000181544","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000181544"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCB","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3583","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NB91","url":"https://www.uniprot.org/uniprotkb/Q8NB91/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000181544","url":"https://platform.opentargets.org/target/ENSG00000181544/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3583","ensembl":"ENSG00000181544","uniprot":"Q8NB91","entrez":"2187","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"DNA repair protein required for FANCD2 ubiquitination. Location: Nucleus (UniProt). Locus Xp22.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fancc","kind":"target","name":"FANCC","aka":["FA complementation group C","Fanconi anemia group C protein","FA3"],"tldr":"FANCC (Fanconi anaemia group C protein) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Leukaemia, Pancreatic ductal adenocarcinoma and 5 more.","summary":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Gemcitabine, Mitomycin, Cisplatin and Chlorambucil and others. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes genetic literature 0.85, affected pathway 0.76, literature 0.89, genetic association 0.68, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3584","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3584"},{"label":"UniProt Q00597","url":"https://www.uniprot.org/uniprotkb/Q00597/entry"},{"label":"NCBI Gene 2176","url":"https://www.ncbi.nlm.nih.gov/gene/2176"},{"label":"Ensembl ENSG00000158169","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158169"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","leukaemia","pancreatic","ovarian","colorectal","myeloproliferative-neoplasms","mds","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 5 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCC","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3584","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3584","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q00597","url":"https://www.uniprot.org/uniprotkb/Q00597/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FANCC","url":"https://civicdb.org/features/1811","note":"1 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000158169","url":"https://platform.opentargets.org/target/ENSG00000158169/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: colorectal cancer 0.56, ovarian cancer 0.56, acute myeloid leukaemia 0.54, myelodysplastic syndrome 0.51, myeloproliferative neoplasm 0.54, breast cancer 0.65 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Fanconi anemia complementation group C (FANCC) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA FANCC: RNA tissue enhanced (liver 23 nTPM); blood lineage lineage enriched (granulocytes 11 nTPM); high antibody staining in 1 normal tissue; highest cancer staining glioma (1 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Leukaemia, Pancreatic ductal adenocarcinoma, Ovarian cancer, Colorectal cancer, Myeloid neoplasms); Open Targets associates it with 4 specific cancer types at or above 0.5 (hereditary neoplastic syndrome, acute myeloid leukemia, myelodysplastic syndrome, breast cancer). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q00597","url":"https://www.uniprot.org/uniprotkb/Q00597/entry","note":"involvement in disease"},{"label":"Human Protein Atlas FANCC tissue","url":"https://www.proteinatlas.org/ENSG00000158169-FANCC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000158169 associations","url":"https://platform.opentargets.org/target/ENSG00000158169/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3584","ensembl":"ENSG00000158169","uniprot":"Q00597","entrez":"2176","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Strathdee C.A. et al, Nature, 1992, \"Cloning of cDNAs for Fanconi's anaemia by functional complementation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1574115/","biology":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. Location: Nucleus; Cytoplasm (UniProt). Locus 9q22.32 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254)","Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575)","Myeloproliferative neoplasms: Open Targets association 0.54 with myeloproliferative neoplasm (MONDO_0020076)"],"targetClass":"other","prevalence":[]},{"id":"fancd2","kind":"target","name":"FANCD2","aka":["FA complementation group D2","Fanconi anemia group D2 protein","FA-D2","FANCD"],"tldr":"FANCD2 (Fanconi anaemia group D2 protein) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Myeloproliferative neoplasms, Breast cancer and 5 more.","summary":"Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.\n\nOpen Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes genetic literature 0.89, affected pathway 0.27, literature 0.97, genetic association 0.75, somatic mutation 0.90, animal model 0.37).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3585"},{"label":"UniProt Q9BXW9","url":"https://www.uniprot.org/uniprotkb/Q9BXW9/entry"},{"label":"NCBI Gene 2177","url":"https://www.ncbi.nlm.nih.gov/gene/2177"},{"label":"Ensembl ENSG00000144554","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144554"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","breast-cancer","ovarian","skin-cancer","lung-cancer","aml","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCD2","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3585","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BXW9","url":"https://www.uniprot.org/uniprotkb/Q9BXW9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000144554","url":"https://platform.opentargets.org/target/ENSG00000144554/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: ovarian cancer 0.62, melanoma 0.55, acute myeloid leukaemia 0.64, skin cancer 0.56, myeloproliferative neoplasm 0.66, breast cancer 0.64 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3585","ensembl":"ENSG00000144554","uniprot":"Q9BXW9","entrez":"2177","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Timmers et al, Mol. Cell, 2001, \"Positional cloning of a novel Fanconi anemia gene, FANCD2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11239453/","biology":"Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Location: Nucleus (UniProt). Locus 3p25.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.70 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.66 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.64 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.62 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)"],"targetClass":"other","prevalence":[]},{"id":"fance","kind":"target","name":"FANCE","aka":["FA complementation group E","Fanconi anemia group E protein"],"tldr":"FANCE (Fanconi anaemia group E protein) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Colorectal cancer, Myeloproliferative neoplasms and 2 more.","summary":"As part of the Fanconi anaemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.81, genetic association 0.74, somatic mutation 0.95, genetic literature 0.83).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3586","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3586"},{"label":"UniProt Q9HB96","url":"https://www.uniprot.org/uniprotkb/Q9HB96/entry"},{"label":"NCBI Gene 2178","url":"https://www.ncbi.nlm.nih.gov/gene/2178"},{"label":"Ensembl ENSG00000112039","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112039"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","colorectal","myeloproliferative-neoplasms","skin-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCE","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3586","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3586","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HB96","url":"https://www.uniprot.org/uniprotkb/Q9HB96/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000112039","url":"https://platform.opentargets.org/target/ENSG00000112039/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.54, acute myeloid leukaemia 0.53, skin cancer 0.51, myeloproliferative neoplasm 0.53, leukaemia 0.62 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3586","ensembl":"ENSG00000112039","uniprot":"Q9HB96","entrez":"2178","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: de Winter J.P. et al, Am. J. Hum. Genet, 2000, \"Isolation of a cDNA representing the Fanconi anemia complementation group E gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11001585/","biology":"As part of the Fanconi anaemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Location: Nucleus (UniProt). Locus 6p21.31 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)","Myeloproliferative neoplasms: Open Targets association 0.53 with myeloproliferative neoplasm (MONDO_0020076)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Acute myeloid leukaemia: Open Targets association 0.53 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"other","prevalence":[]},{"id":"fancf","kind":"target","name":"FANCF","aka":["FA complementation group F","Fanconi anemia group F protein"],"tldr":"FANCF (Fanconi anaemia group F protein) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Skin cancer and Melanoma.","summary":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.26, literature 0.94, genetic association 0.25, somatic mutation 0.93, animal model 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3587","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3587"},{"label":"UniProt Q9NPI8","url":"https://www.uniprot.org/uniprotkb/Q9NPI8/entry"},{"label":"NCBI Gene 2188","url":"https://www.ncbi.nlm.nih.gov/gene/2188"},{"label":"Ensembl ENSG00000183161","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183161"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCF","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3587","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3587","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NPI8","url":"https://www.uniprot.org/uniprotkb/Q9NPI8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000183161","url":"https://platform.opentargets.org/target/ENSG00000183161/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: melanoma 0.51, skin cancer 0.50, leukaemia 0.60 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3587","ensembl":"ENSG00000183161","uniprot":"Q9NPI8","entrez":"2188","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: de Winter J.P. et al, Nat. Genet, 2000, \"The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10615118/","biology":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Location: Nucleus (UniProt). Locus 11p14.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},{"id":"fancg","kind":"target","name":"FANCG","aka":["FA complementation group G","Fanconi anemia group G protein","XRCC9"],"tldr":"FANCG (Fanconi anaemia group G protein) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Myeloproliferative neoplasms, Colorectal cancer and 2 more.","summary":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumour suppressor gene.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes genetic literature 0.83, literature 0.90, genetic association 0.60, somatic mutation 0.96, animal model 0.35).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3588","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3588"},{"label":"UniProt O15287","url":"https://www.uniprot.org/uniprotkb/O15287/entry"},{"label":"NCBI Gene 2189","url":"https://www.ncbi.nlm.nih.gov/gene/2189"},{"label":"Ensembl ENSG00000221829","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000221829"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","colorectal","lung-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCG","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3588","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3588","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15287","url":"https://www.uniprot.org/uniprotkb/O15287/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000221829","url":"https://platform.opentargets.org/target/ENSG00000221829/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.52, acute myeloid leukaemia 0.54, myeloproliferative neoplasm 0.54, lung cancer 0.51, leukaemia 0.62 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3588","ensembl":"ENSG00000221829","uniprot":"O15287","entrez":"2189","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Liu et al, Proc. Natl. Acad. Sci. U.S.A, 1997, \"The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9256465/","biology":"DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumour suppressor gene. Location: Nucleus; Cytoplasm (UniProt). Locus 9p13.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.54 with myeloproliferative neoplasm (MONDO_0020076)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Acute myeloid leukaemia: Open Targets association 0.54 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"other","prevalence":[]},{"id":"fanci","kind":"target","name":"FANCI","aka":["FA complementation group I","Fanconi anemia group I protein","FLJ10719","KIAA1794"],"tldr":"FANCI (Fanconi anaemia group I protein) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA. Participates in S phase and G2 phase checkpoint activation upon DNA damage.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.30, genetic association 0.50, genetic literature 0.83).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25568","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25568"},{"label":"UniProt Q9NVI1","url":"https://www.uniprot.org/uniprotkb/Q9NVI1/entry"},{"label":"NCBI Gene 55215","url":"https://www.ncbi.nlm.nih.gov/gene/55215"},{"label":"Ensembl ENSG00000140525","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140525"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCI","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:25568","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25568","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NVI1","url":"https://www.uniprot.org/uniprotkb/Q9NVI1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140525","url":"https://platform.opentargets.org/target/ENSG00000140525/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:25568","ensembl":"ENSG00000140525","uniprot":"Q9NVI1","entrez":"55215","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11347906/","biology":"Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA. Participates in S phase and G2 phase checkpoint activation upon DNA damage. Location: Nucleus; Cytoplasm (UniProt). Locus 15q26.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fancl","kind":"target","name":"FANCL","aka":["FA complementation group L","E3 ubiquitin-protein ligase FANCL","FLJ10335","FAAP43","Pog","PHF9"],"tldr":"FANCL (E3 ubiquitin-protein ligase FANCL) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Olaparib. Open Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.25, literature 0.53, genetic association 0.14, animal model 0.54).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20748","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20748"},{"label":"UniProt Q9NW38","url":"https://www.uniprot.org/uniprotkb/Q9NW38/entry"},{"label":"NCBI Gene 55120","url":"https://www.ncbi.nlm.nih.gov/gene/55120"},{"label":"Ensembl ENSG00000115392","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115392"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCL","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:20748","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20748","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NW38","url":"https://www.uniprot.org/uniprotkb/Q9NW38/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FANCL","url":"https://civicdb.org/features/12754","note":"1 evidence items, 0 assertions, 1 variants; diseases: Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000115392","url":"https://platform.opentargets.org/target/ENSG00000115392/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"one-type","specificityNote":"Germline variant: UniProt lists Fanconi anemia complementation group L (FANCL) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA FANCL: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9NW38","url":"https://www.uniprot.org/uniprotkb/Q9NW38/entry","note":"involvement in disease"},{"label":"Human Protein Atlas FANCL tissue","url":"https://www.proteinatlas.org/ENSG00000115392-FANCL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115392 associations","url":"https://platform.opentargets.org/target/ENSG00000115392/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20748","ensembl":"ENSG00000115392","uniprot":"Q9NW38","entrez":"55120","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth. Location: Cytoplasm; Nucleus (UniProt). Locus 2p16.1 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"fancm","kind":"target","name":"FANCM","aka":["FA complementation group M","Fanconi anemia group M protein","FAAP250","KIAA1596"],"tldr":"FANCM (Fanconi anaemia group M protein) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Breast cancer and Ovarian cancer.","summary":"DNA-dependent ATPase component of the Fanconi anaemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes genetic literature 0.33, affected pathway 0.31, literature 0.67, genetic association 0.88, animal model 0.44).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23168","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23168"},{"label":"UniProt Q8IYD8","url":"https://www.uniprot.org/uniprotkb/Q8IYD8/entry"},{"label":"NCBI Gene 57697","url":"https://www.ncbi.nlm.nih.gov/gene/57697"},{"label":"Ensembl ENSG00000187790","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187790"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FANCM","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23168","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23168","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IYD8","url":"https://www.uniprot.org/uniprotkb/Q8IYD8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000187790","url":"https://platform.opentargets.org/target/ENSG00000187790/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: ovarian cancer 0.53, breast cancer 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:23168","ensembl":"ENSG00000187790","uniprot":"Q8IYD8","entrez":"57697","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10997877/","biology":"DNA-dependent ATPase component of the Fanconi anaemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates. Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX. In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates. Location: Nucleus (UniProt). Locus 14q21.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.53 with ovarian cancer (MONDO_0008170)"],"targetClass":"enzyme","prevalence":[]},{"id":"fap","kind":"target","name":"FAP","aka":[],"tldr":"FAP (fibroblast activation protein) sits on the cancer-associated fibroblasts that scaffold more than 90% of epithelial cancers and is almost absent from normal adult tissue. FAPI PET tracers therefore light up tumours with high contrast, including pancreatic, gastric and low-grade cancers where FDG PET is weak, and FAP-targeted radioligands are in development.","summary":"Fibroblast activation protein is expressed on cancer-associated fibroblasts in >90% of epithelial cancers, with minimal expression in normal adult tissue. FAPI PET tracers (68Ga-FAPI-46, 18F-FAPI-74) offer high tumour-to-background contrast, including in cancers where FDG is weak (pancreatic, gastric, low-grade). FAP-targeted radioligands (177Lu/225Ac-FAP-2286) are in development.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Fibroblast_activation_protein,_alpha","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Fibroblast_activation_protein,_alpha"}],"tags":["theranostic","pet-target","stroma"],"related":[],"cancers":["pancreatic","gastric","tnbc","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":["eb-mf-car-nk-01"],"companies":["ratio-therapeutics"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Pancreatic ductal adenocarcinoma: FAP-positive cancer-associated fibroblasts are the principal source of CXCL12, which coats cancer cells and excludes T cells; depleting them or blocking CXCR4 let T cells in and uncovered the effect of anti-PD-L1 in the autochthonous mouse model (Feig 2013). FAP is also the imaging target of FAPI PET in this stroma-rich disease."],"symbol":"FAP","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: the record's class is stroma. HPA FAP: RNA tissue enhanced (endometrium 1 29 nTPM); no normal tissue stained high; highest cancer staining breast cancer (6 of 10 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma, Gastric & gastro-oesophageal junction cancer, Breast cancer (all types), Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FAP tissue","url":"https://www.proteinatlas.org/ENSG00000078098-FAP/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q12884","url":"https://www.uniprot.org/uniprotkb/Q12884/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000078098 associations","url":"https://platform.opentargets.org/target/ENSG00000078098/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3590","ensembl":"ENSG00000078098","uniprot":"Q12884","entrez":"2191","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Scanlan M.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Molecular cloning of fibroblast activation protein alpha, a member of the serine protease family selectively expressed in stromal fibroblasts of epithelial cancers\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7911242/","biology":"Serine protease on activated fibroblasts; a stromal target rather than a tumour-cell target, so it is pan-cancer but does not report on the malignant cell itself.","whereFound":["Pancreatic","Gastric","Breast","Sarcoma","Almost all desmoplastic tumours"],"targetClass":"stroma","prevalence":[{"cancerId":"pancreatic","pct":">90","measure":"Stromal FAP by IHC/FAPI PET","source":"https://en.wikipedia.org/wiki/Fibroblast_activation_protein,_alpha","note":"Cancer-associated fibroblasts"},{"cancerId":"gastric","pct":">85","measure":"Stromal FAP","source":"https://en.wikipedia.org/wiki/Fibroblast_activation_protein,_alpha"},{"cancerId":"tnbc","pct":">80","measure":"Stromal FAP","source":"https://en.wikipedia.org/wiki/Fibroblast_activation_protein,_alpha"},{"cancerId":"sarcoma","pct":"60-90","measure":"Tumour and stromal FAP","source":"https://en.wikipedia.org/wiki/Fibroblast_activation_protein,_alpha"}]},{"id":"fas","kind":"target","name":"FAS","aka":["Fas cell surface death receptor","Tumor necrosis factor receptor superfamily member 6","CD95","APO-1","FAS1","APT1","TNFRSF6"],"tldr":"FAS (Tumour necrosis factor receptor superfamily member 6) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Cervical cancer and 5 more.","summary":"Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase CASP8 to the activated receptor. The resulting death-inducing signalling complex (DISC) performs CASP8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.99, animal model 0.59, genetic association 0.18, somatic mutation 0.78). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Cervical Squamous Cell Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11920","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11920"},{"label":"UniProt P25445","url":"https://www.uniprot.org/uniprotkb/P25445/entry"},{"label":"NCBI Gene 355","url":"https://www.ncbi.nlm.nih.gov/gene/355"},{"label":"Ensembl ENSG00000026103","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000026103"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","cervical","skin-cancer","dlbcl","melanoma","marginal-zone-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["extrinsic-apoptosis-death-receptors"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAS","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11920","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11920","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25445","url":"https://www.uniprot.org/uniprotkb/P25445/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FAS","url":"https://civicdb.org/features/375","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000026103","url":"https://platform.opentargets.org/target/ENSG00000026103/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: melanoma 0.52, acute lymphoblastic leukaemia 0.50, diffuse large B-cell lymphoma 0.59, non-Hodgkin lymphoma 0.71, skin cancer 0.52, leukaemia 0.63 (GraphQL API, CC0)"},{"label":"IntOGen FAS","url":"https://www.intogen.org/search?gene=FAS","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FAS: RNA low tissue specificity; blood lineage group enriched (granulocytes 101 nTPM, T-cells 91 nTPM); no normal tissue stained high; highest cancer staining ovarian cancer (1 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Cervical cancer, Skin cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (autoimmune lymphoproliferative syndrome type 1, autoimmune lymphoproliferative syndrome, lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P25445","url":"https://www.uniprot.org/uniprotkb/P25445/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FAS","url":"https://civicdb.org/features/375","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen FAS","url":"https://www.intogen.org/search?gene=FAS","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FAS tissue","url":"https://www.proteinatlas.org/ENSG00000026103-FAS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000026103 associations","url":"https://platform.opentargets.org/target/ENSG00000026103/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11920","ensembl":"ENSG00000026103","uniprot":"P25445","entrez":"355","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Itoh et al, Cell, 1991, \"The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1713127/","biology":"Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase CASP8 to the activated receptor. The resulting death-inducing signalling complex (DISC) performs CASP8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro). Location: Cell membrane; Membrane raft; Secreted (UniProt). Locus 10q23.31 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.71 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (MLYM)","Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)","Cervical cancer: IntOGen driver in 1 cohort (CESC)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: Open Targets association 0.59 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fat1","kind":"target","name":"FAT1","aka":["FAT atypical cadherin 1","Protocadherin Fat 1","CDHF7","CDHR8"],"tldr":"FAT1 (Protocadherin Fat 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Head and neck squamous cell carcinoma, Lung cancer, Bladder & urothelial cancer and 5 more.","summary":"Plays an essential role for cellular polarisation, directed cell migration and modulating cell-cell contact.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming CDK4/6 Inhibition. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.99, genetic association 0.18, somatic mutation 0.98, animal model 0.44). IntOGen calls it a driver in 45 cohorts (15 activating, 30 loss-of-function), covering Acute Myeloid Leukaemia, Angiosarcoma, Anal Squamous Cell Carcinoma, Basal Cell Carcinoma, Burkitt Lymphoma, Bladder/Urinary Tract and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3595","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3595"},{"label":"UniProt Q14517","url":"https://www.uniprot.org/uniprotkb/Q14517/entry"},{"label":"NCBI Gene 2195","url":"https://www.ncbi.nlm.nih.gov/gene/2195"},{"label":"Ensembl ENSG00000083857","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083857"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["head-and-neck","lung-cancer","urothelial","breast-cancer","esophageal","cervical","nasopharyngeal","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 15 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 30 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAT1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3595","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3595","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14517","url":"https://www.uniprot.org/uniprotkb/Q14517/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FAT1","url":"https://civicdb.org/features/1827","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000083857","url":"https://platform.opentargets.org/target/ENSG00000083857/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.53, colorectal cancer 0.59, oesophageal cancer 0.59, urinary bladder cancer 0.60, cervical cancer 0.53, melanoma 0.62 (GraphQL API, CC0)"},{"label":"IntOGen FAT1","url":"https://www.intogen.org/search?gene=FAT1","note":"driver in 45 cohorts (Act 15, LoF 30); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FAT1: RNA tissue enhanced (choroid plexus 82 nTPM); high antibody staining in 6 normal tissues; highest cancer staining glioma (6 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma, Lung cancer (all types), Bladder & urothelial cancer, Breast cancer (all types), Oesophageal cancer, Cervical cancer, Nasopharyngeal carcinoma and more); Open Targets associates it with 3 specific cancer types at or above 0.5 (head and neck squamous cell carcinoma, squamous cell lung carcinoma, cervical squamous cell carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q14517","url":"https://www.uniprot.org/uniprotkb/Q14517/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FAT1","url":"https://civicdb.org/features/1827","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"},{"label":"IntOGen FAT1","url":"https://www.intogen.org/search?gene=FAT1","note":"driver in 45 cohorts (Act 15, LoF 30); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FAT1 tissue","url":"https://www.proteinatlas.org/ENSG00000083857-FAT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000083857 associations","url":"https://platform.opentargets.org/target/ENSG00000083857/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3595","ensembl":"ENSG00000083857","uniprot":"Q14517","entrez":"2195","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dunne et al, Genomics, 1995, \"Molecular cloning and tissue expression of FAT, the human homologue of the Drosophila fat gene that is located on chromosome 4q34-q35 and encodes a putative adhesion molecule\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8586420/","biology":"Plays an essential role for cellular polarisation, directed cell migration and modulating cell-cell contact. Location: Cell membrane; Nucleus (UniProt). Locus 4q35.2 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: Open Targets association 0.70 with head and neck squamous cell carcinoma (MONDO_0010150); IntOGen driver in 5 cohorts (HNSC)","Lung cancer: Open Targets association 0.68 with lung cancer (MONDO_0008903)","Bladder & urothelial cancer: Open Targets association 0.60 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 7 cohorts (BLADDER, BLCA, UTUC)","Breast cancer: CIViC evidence names this disease; IntOGen driver in 1 cohort (BRCA)","Oesophageal cancer: Open Targets association 0.59 with oesophageal cancer (MONDO_0007576); IntOGen driver in 2 cohorts (ESCA, ESCC)","Cervical cancer: Open Targets association 0.53 with cervical cancer (MONDO_0002974); IntOGen driver in 2 cohorts (CESC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fat2","kind":"target","name":"FAT2","aka":["FAT atypical cadherin 2","Protocadherin Fat 2","MEGF1","CDHF8","HFAT2","CDHR9"],"tldr":"FAT2 (Protocadherin Fat 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Vulvar cancer.","summary":"Involved in the regulation of cell migration. May be involved in mediating the organisation of the parallel fibres of granule cells during cerebellar development.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Vulva/Vagina.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3596","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3596"},{"label":"UniProt Q9NYQ8","url":"https://www.uniprot.org/uniprotkb/Q9NYQ8/entry"},{"label":"NCBI Gene 2196","url":"https://www.ncbi.nlm.nih.gov/gene/2196"},{"label":"Ensembl ENSG00000086570","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000086570"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["vulvar"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAT2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3596","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3596","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NYQ8","url":"https://www.uniprot.org/uniprotkb/Q9NYQ8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FAT2","url":"https://www.intogen.org/search?gene=FAT2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3596","ensembl":"ENSG00000086570","uniprot":"Q9NYQ8","entrez":"2196","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nakayama et al, Genomics, 1998, \"Identification of high-molecular-weight proteins with multiple EGF-like motifs by motif-trap screening\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9693030/","biology":"Involved in the regulation of cell migration. May be involved in mediating the organisation of the parallel fibres of granule cells during cerebellar development. Location: Cell membrane; Cell junction; Golgi apparatus, trans-Golgi network (UniProt). Locus 5q33.1 (HGNC).","whereFound":["Vulvar cancer: IntOGen driver in 1 cohort (VULVA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fat3","kind":"target","name":"FAT3","aka":["FAT atypical cadherin 3","Protocadherin Fat 3","KIAA1989","CDHF15","CDHR10"],"tldr":"FAT3 (Protocadherin Fat 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Pancreatic ductal adenocarcinoma, Renal cell carcinoma and 5 more.","summary":"May play a role in the interactions between neurites derived from specific subsets of neurons during development.\n\nIntOGen calls it a driver in 29 cohorts (22 activating, 7 loss-of-function), covering Angiosarcoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Colon Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23112","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23112"},{"label":"UniProt Q8TDW7","url":"https://www.uniprot.org/uniprotkb/Q8TDW7/entry"},{"label":"NCBI Gene 120114","url":"https://www.ncbi.nlm.nih.gov/gene/120114"},{"label":"Ensembl ENSG00000165323","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165323"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer","pancreatic","rcc","colorectal","prostate","gastric","head-and-neck","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 22 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 7 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAT3","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:23112","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23112","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8TDW7","url":"https://www.uniprot.org/uniprotkb/Q8TDW7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FAT3","url":"https://www.intogen.org/search?gene=FAT3","note":"driver in 29 cohorts (Act 22, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:23112","ensembl":"ENSG00000165323","uniprot":"Q8TDW7","entrez":"120114","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mitsui et al, Biochem. Biophys. Res. Commun, 2002, \"Mammalian fat3: a large protein that contains multiple cadherin and EGF-like motifs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11811999/","biology":"May play a role in the interactions between neurites derived from specific subsets of neurons during development. Location: Membrane (UniProt). Locus 11q14.3 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 4 cohorts (BRCA)","Pancreatic ductal adenocarcinoma: IntOGen driver in 3 cohorts (PAAD, PANCREAS)","Renal cell carcinoma: IntOGen driver in 2 cohorts (CCRCC, RCC)","Colorectal cancer: IntOGen driver in 2 cohorts (COAD, COADREAD)","Prostate cancer: IntOGen driver in 2 cohorts (PRAD)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 2 cohorts (STAD, STOMACH)"],"targetClass":"oncogene","prevalence":[]},{"id":"fat4","kind":"target","name":"FAT4","aka":["FAT atypical cadherin 4","Protocadherin Fat 4","CDHF14","FAT-J","CDHR11"],"tldr":"FAT4 (Protocadherin Fat 4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Colorectal cancer, Hepatocellular carcinoma and 5 more.","summary":"Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation.\n\nOpen Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes literature 0.97, animal model 0.39, genetic association 0.36, somatic mutation 0.90). IntOGen calls it a driver in 37 cohorts (24 activating, 12 loss-of-function), covering Adrenocortical Carcinoma, Acute Lymphoblastic Leukaemia, Acute Myeloid Leukaemia, Anal Squamous Cell Carcinoma, Basal Cell Carcinoma, Invasive Breast Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23109","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23109"},{"label":"UniProt Q6V0I7","url":"https://www.uniprot.org/uniprotkb/Q6V0I7/entry"},{"label":"NCBI Gene 79633","url":"https://www.ncbi.nlm.nih.gov/gene/79633"},{"label":"Ensembl ENSG00000196159","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196159"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","colorectal","hcc","breast-cancer","gastric","esophageal","mesothelioma","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 24 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 12 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FAT4","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:23109","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23109","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6V0I7","url":"https://www.uniprot.org/uniprotkb/Q6V0I7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196159","url":"https://platform.opentargets.org/target/ENSG00000196159/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: colorectal cancer 0.62, gastric cancer 0.56, oesophageal cancer 0.50, ovarian cancer 0.52, melanoma 0.60, non-Hodgkin lymphoma 0.52 (GraphQL API, CC0)"},{"label":"IntOGen FAT4","url":"https://www.intogen.org/search?gene=FAT4","note":"driver in 37 cohorts (Act 24, LoF 12); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:23109","ensembl":"ENSG00000196159","uniprot":"Q6V0I7","entrez":"79633","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohira et al, Cancer Lett, 2003, \"Neuroblastoma oligo-capping cDNA project: toward the understanding of the genesis and biology of neuroblastoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12880961/","biology":"Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation. Location: Membrane (UniProt). Locus 4q28.1 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 4 cohorts (PRAD)","Colorectal cancer: Open Targets association 0.62 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Hepatocellular carcinoma: IntOGen driver in 3 cohorts (HCC)","Breast cancer: Open Targets association 0.60 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.56 with gastric cancer (MONDO_0001056); IntOGen driver in 2 cohorts (STAD, STOMACH)","Oesophageal cancer: Open Targets association 0.50 with oesophageal cancer (MONDO_0007576); IntOGen driver in 2 cohorts (ESCA)"],"targetClass":"oncogene","prevalence":[]},{"id":"fbln2","kind":"target","name":"FBLN2","aka":["fibulin 2","Fibulin-2"],"tldr":"FBLN2 (Fibulin-2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma, Bladder & urothelial cancer, Hepatocellular carcinoma and 4 more.","summary":"Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN.\n\nIntOGen calls it a driver in 8 cohorts (2 activating, 5 loss-of-function), covering Bladder Urothelial Carcinoma, Cholangiocarcinoma, Hepatocellular Carcinoma, Head and Neck Squamous Cell Carcinoma, Neuroblastoma, Pancreatic Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3601","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3601"},{"label":"UniProt P98095","url":"https://www.uniprot.org/uniprotkb/P98095/entry"},{"label":"NCBI Gene 2199","url":"https://www.ncbi.nlm.nih.gov/gene/2199"},{"label":"Ensembl ENSG00000163520","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163520"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pancreatic","urothelial","hcc","head-and-neck","prostate","cholangiocarcinoma","neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FBLN2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3601","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3601","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P98095","url":"https://www.uniprot.org/uniprotkb/P98095/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FBLN2","url":"https://www.intogen.org/search?gene=FBLN2","note":"driver in 8 cohorts (Act 2, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3601","ensembl":"ENSG00000163520","uniprot":"P98095","entrez":"2199","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang R.-Z. et al, Genomics, 1994, \"Fibulin-2 (FBLN2): human cDNA sequence, mRNA expression, and mapping of the gene on human and mouse chromosomes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7806230/","biology":"Its binding to fibronectin and some other ligands is calcium dependent. May act as an adapter that mediates the interaction between FBN1 and ELN. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 3p25.1 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 2 cohorts (PAAD)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Biliary tract cancer: IntOGen driver in 1 cohort (CHOL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fbn2","kind":"target","name":"FBN2","aka":["fibrillin 2","Fibrillin-2","DA9"],"tldr":"FBN2 (Fibrillin-2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Neuroblastoma.","summary":"Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fibre assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Neuroblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3604","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3604"},{"label":"UniProt P35556","url":"https://www.uniprot.org/uniprotkb/P35556/entry"},{"label":"NCBI Gene 2201","url":"https://www.ncbi.nlm.nih.gov/gene/2201"},{"label":"Ensembl ENSG00000138829","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138829"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FBN2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3604","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3604","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35556","url":"https://www.uniprot.org/uniprotkb/P35556/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FBN2","url":"https://www.intogen.org/search?gene=FBN2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3604","ensembl":"ENSG00000138829","uniprot":"P35556","entrez":"2201","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee et al, Nature, 1991, \"Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1852206/","biology":"Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fibre assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively. Hormone secreted by trophoblasts that promotes trophoblast invasiveness. Has glucogenic activity: is able to increase plasma glucose levels. Location: Secreted; Secreted, extracellular space, extracellular matrix (UniProt). Locus 5q23.3 (HGNC).","whereFound":["Neuroblastoma: IntOGen driver in 1 cohort (NBL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fbxo11","kind":"target","name":"FBXO11","aka":["F-box protein 11","F-box only protein 11","FBX11","UBR6"],"tldr":"FBXO11 (F-box only protein 11) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Endometrial cancer, Ovarian cancer and 5 more.","summary":"Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6, SNAI1 and PRDM1/BLIMP1. The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal centre B-cells terminal differentiation toward memory B-cells and plasma cells. The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF-beta signalling, cell migration and the timing of the cell-cycle progression and exit.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes literature 0.96, animal model 0.49, genetic association 0.87, somatic mutation 0.97). IntOGen calls it a driver in 5 cohorts (1 activating, 4 loss-of-function), covering Burkitt Lymphoma, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13590"},{"label":"UniProt Q86XK2","url":"https://www.uniprot.org/uniprotkb/Q86XK2/entry"},{"label":"NCBI Gene 80204","url":"https://www.ncbi.nlm.nih.gov/gene/80204"},{"label":"Ensembl ENSG00000138081","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138081"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","endometrial","ovarian","breast-cancer","gastric","non-hodgkin-lymphoma","prostate","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FBXO11","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13590","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86XK2","url":"https://www.uniprot.org/uniprotkb/Q86XK2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FBXO11","url":"https://civicdb.org/features/15318","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000138081","url":"https://platform.opentargets.org/target/ENSG00000138081/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.79, gastric cancer 0.65, prostate cancer 0.60, ovarian cancer 0.72, endometrial cancer 0.74, melanoma 0.52 (GraphQL API, CC0)"},{"label":"IntOGen FBXO11","url":"https://www.intogen.org/search?gene=FBXO11","note":"driver in 5 cohorts (Act 1, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FBXO11: RNA low tissue specificity; no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Endometrial cancer, Ovarian cancer, Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Lymphoma, Prostate cancer and more); Open Targets associates it with 15 specific cancer types at or above 0.5 (Lynch syndrome, endometrial carcinoma, colon carcinoma, ovarian cancer, hereditary neoplastic syndrome, hereditary nonpolyposis colon cancer and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q86XK2","url":"https://www.uniprot.org/uniprotkb/Q86XK2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FBXO11","url":"https://civicdb.org/features/15318","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen FBXO11","url":"https://www.intogen.org/search?gene=FBXO11","note":"driver in 5 cohorts (Act 1, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FBXO11 tissue","url":"https://www.proteinatlas.org/ENSG00000138081-FBXO11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138081 associations","url":"https://platform.opentargets.org/target/ENSG00000138081/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13590","ensembl":"ENSG00000138081","uniprot":"Q86XK2","entrez":"80204","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cenciarelli et al, Curr. Biol, 1999, \"Identification of a family of human F-box proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10531035/","biology":"Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as DTL/CDT2, BCL6, SNAI1 and PRDM1/BLIMP1. The SCF(FBXO11) complex mediates ubiquitination and degradation of BCL6, thereby playing a role in the germinal centre B-cells terminal differentiation toward memory B-cells and plasma cells. The SCF(FBXO11) complex also mediates ubiquitination and degradation of DTL, an important step for the regulation of TGF-beta signalling, cell migration and the timing of the cell-cycle progression and exit. The SCF(FBXO11) complex also catalyses ubiquitination and degradation of GSK3B-phosphorylated SNAI1. Binds to and neddylates phosphorylated p53/TP53, inhibiting its transcriptional activity. Plays a role in the regulatiom of erythropoiesis but not myelopoiesis or megakaryopoiesis. Location: Nucleus; Chromosome (UniProt). Locus 2p16.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.79 with colorectal cancer (MONDO_0005575)","Endometrial cancer: Open Targets association 0.74 with endometrial cancer (MONDO_0011962)","Ovarian cancer: Open Targets association 0.72 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.69 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.65 with gastric cancer (MONDO_0001056)","Non-Hodgkin lymphoma: Open Targets association 0.62 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 3 cohorts (MLYM, NHL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fbxw11","kind":"target","name":"FBXW11","aka":["F-box and WD repeat domain containing 11","F-box/WD repeat-containing protein 11","KIAA0696","Fbw1b","BTRCP2","BTRC2","Hos","Fbw11","FBXW1B"],"tldr":"FBXW11 (F-box/WD repeat-containing protein 11) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognises and binds to phosphorylated target proteins: the interaction with substrates requires the phosphorylation of the two serine residues in the substrates' destruction motif D-S-G-X(2,3,4)-S. SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signalling regulation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13607","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13607"},{"label":"UniProt Q9UKB1","url":"https://www.uniprot.org/uniprotkb/Q9UKB1/entry"},{"label":"NCBI Gene 23291","url":"https://www.ncbi.nlm.nih.gov/gene/23291"},{"label":"Ensembl ENSG00000072803","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072803"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Salivary Gland Basal Cell Adenoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FBXW11","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13607","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13607","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UKB1","url":"https://www.uniprot.org/uniprotkb/Q9UKB1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FBXW11","url":"https://civicdb.org/features/9443","note":"1 evidence items, 0 assertions, 1 variants; diseases: Salivary Gland Basal Cell Adenoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA FBXW11: RNA low tissue specificity; high antibody staining in 11 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FBXW11 tissue","url":"https://www.proteinatlas.org/ENSG00000072803-FBXW11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000072803 associations","url":"https://platform.opentargets.org/target/ENSG00000072803/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13607","ensembl":"ENSG00000072803","uniprot":"Q9UKB1","entrez":"23291","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ishikawa et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9734811/","biology":"Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognises and binds to phosphorylated target proteins: the interaction with substrates requires the phosphorylation of the two serine residues in the substrates' destruction motif D-S-G-X(2,3,4)-S. SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signalling regulation. SCF(FBXW11) plays a key role in NF-kappa-B activation by mediating ubiquitination of phosphorylated NFKBIA, leading to its degradation by the proteasome, thereby allowing the associated NF-kappa-B complex to translocate into the nucleus and to activate transcription. The SCF(FBXW11) complex also regulates NF-kappa-B by mediating ubiquitination of phosphorylated NFKB1: specifically ubiquitinates the p105 form of NFKB1, leading to its degradation. SCF(FBXW11) mediates the ubiquitination of IFNAR1. Location: Cytoplasm; Nucleus (UniProt). Locus 5q35.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fbxw7","kind":"target","name":"FBXW7","aka":["F-box and WD repeat domain containing 7","F-box/WD repeat-containing protein 7","FLJ11071","SEL-10","SEL10","FBW7","FBX30","CDC4","FBXW6"],"tldr":"FBXW7 (F-box/WD repeat-containing protein 7) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Non-Hodgkin lymphoma, Endometrial cancer and 5 more.","summary":"Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognises and binds phosphorylated sites/phosphodegrons within target proteins and thereafter brings them to the SCF complex for ubiquitination. Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NFE2L1, NOTCH2, MCL1, MLST8, RICTOR, and probably PSEN1.\n\nCIViC holds 14 clinical evidence items and 0 assertions across 12 variants, naming Regorafenib Anhydrous, Cetuximab, Panitumumab and Everolimus and others. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes genetic literature 0.41, affected pathway 0.75, literature 0.99, genetic association 0.55, somatic mutation 0.98, animal model 0.45). IntOGen calls it a driver in 42 cohorts (11 activating, 30 loss-of-function), covering Anal Squamous Cell Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cervical Adenocarcinoma, Cervical Squamous Cell Carcinoma, Cholangiocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16712","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16712"},{"label":"UniProt Q969H0","url":"https://www.uniprot.org/uniprotkb/Q969H0/entry"},{"label":"NCBI Gene 55294","url":"https://www.ncbi.nlm.nih.gov/gene/55294"},{"label":"Ensembl ENSG00000109670","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109670"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","non-hodgkin-lymphoma","endometrial","breast-cancer","leukaemia","cervical","esophageal","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-colorectal-comprehensive-characterization-nature-2012"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 6 therapies; IntOGen calls it an activating (Act) driver in 11 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 30 cohorts; CIViC holds 14 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: T-cell Acute Lymphoblastic Leukaemia.","Colorectal cancer: inactivating mutation in 13 to 17%, leaning hypermutated (39.9% of MSI-high against 12.6% of microsatellite-stable samples in crc_msk_2026). Its substrates, MYC, cyclin E and NOTCH1, connect it to the MYC-directed transcriptional programme the TCGA analysis identified as the common output of the disease (Cancer Genome Atlas Network 2012)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FBXW7","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16712","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16712","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q969H0","url":"https://www.uniprot.org/uniprotkb/Q969H0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FBXW7","url":"https://civicdb.org/features/12903","note":"14 evidence items, 0 assertions, 12 variants; diseases: Colorectal Cancer, Cancer, Renal Cell Carcinoma, T-cell Acute Lymphoblastic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000109670","url":"https://platform.opentargets.org/target/ENSG00000109670/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.76, gastric cancer 0.51, oesophageal cancer 0.61, urinary bladder cancer 0.57, ovarian cancer 0.54, endometrial cancer 0.67 (GraphQL API, CC0)"},{"label":"IntOGen FBXW7","url":"https://www.intogen.org/search?gene=FBXW7","note":"driver in 42 cohorts (Act 11, LoF 30); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FBXW7: RNA tissue enhanced (brain 58 nTPM, skin 1 58 nTPM); high antibody staining in 33 normal tissues; highest cancer staining prostate cancer (9 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lymphoma, Endometrial cancer, Breast cancer (all types), Leukaemia, Cervical cancer, Oesophageal cancer and more); Open Targets associates it with 3 specific cancer types at or above 0.5 (colorectal adenocarcinoma, cervical squamous cell carcinoma, endometrial cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q969H0","url":"https://www.uniprot.org/uniprotkb/Q969H0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FBXW7","url":"https://civicdb.org/features/12903","note":"14 evidence items, 0 assertions, 12 variants; diseases: Colorectal Cancer, Cancer, Renal Cell Carcinoma, T-cell Acute Lymphoblastic Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen FBXW7","url":"https://www.intogen.org/search?gene=FBXW7","note":"driver in 42 cohorts (Act 11, LoF 30); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FBXW7 tissue","url":"https://www.proteinatlas.org/ENSG00000109670-FBXW7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000109670 associations","url":"https://platform.opentargets.org/target/ENSG00000109670/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16712","ensembl":"ENSG00000109670","uniprot":"Q969H0","entrez":"55294","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Winston J.T. et al, Curr. Biol, 1999, \"A family of mammalian F-box proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10531037/","biology":"Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognises and binds phosphorylated sites/phosphodegrons within target proteins and thereafter brings them to the SCF complex for ubiquitination. Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NFE2L1, NOTCH2, MCL1, MLST8, RICTOR, and probably PSEN1. Acts as a negative regulator of JNK signalling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation. Involved in bone homeostasis and negative regulation of osteoclast differentiation. Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination. Location: Nucleus, nucleoplasm; Chromosome; Cytoplasm; Nucleus, nucleolus (UniProt). Locus 4q31.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.76 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.68 with non-Hodgkin lymphoma (MONDO_0018908)","Endometrial cancer: Open Targets association 0.67 with endometrial cancer (MONDO_0011962); IntOGen driver in 4 cohorts (UCEC)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254); IntOGen driver in 4 cohorts (BRCA)","Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)","Cervical cancer: Open Targets association 0.62 with cervical cancer (MONDO_0002974); IntOGen driver in 3 cohorts (CEAD, CESC)","Colorectal cancer: inactivating mutation 13-17%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"colorectal","pct":"13-17","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 1,127 of 7,237, 15.6%, in crc_msk_2026; 145 of 1,134, 12.8%, in crc_msk_2017; 205 of 1,516, 13.5%, in crc_eo_2020; 90 of 534, 16.9%, in coadread_tcga_pan_can_atlas_2018; 37 of 224, 16.5%, in coadread_tcga_pub; 86 of 619, 13.9%, in coadread_dfci_2016."}]},{"id":"fcgr2a","kind":"target","name":"FCGR2A","aka":["Fc gamma receptor IIa","Low affinity immunoglobulin gamma Fc region receptor II-a","CD32","CD32A","IGFR2","CDw32","Fc-gamma-RIIa","FcgammaRIIa","FCG2","FCGR2A1","FCGR2"],"tldr":"FCGR2A (Low affinity immunoglobulin gamma Fc region receptor II-a) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer and HER2-positive breast cancer.","summary":"Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Trastuzumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3616","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3616"},{"label":"UniProt P12318","url":"https://www.uniprot.org/uniprotkb/P12318/entry"},{"label":"NCBI Gene 2212","url":"https://www.ncbi.nlm.nih.gov/gene/2212"},{"label":"Ensembl ENSG00000143226","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143226"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer","breast-her2-positive"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FCGR2A","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3616","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3616","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12318","url":"https://www.uniprot.org/uniprotkb/P12318/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FCGR2A","url":"https://civicdb.org/features/1842","note":"2 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer, HER2 Positive Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FCGR2A: RNA tissue enhanced (lymphoid tissue 113 nTPM, placenta 127 nTPM); blood lineage lineage enriched (granulocytes 2,531 nTPM); high antibody staining in 2 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FCGR2A tissue","url":"https://www.proteinatlas.org/ENSG00000143226-FCGR2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143226 associations","url":"https://platform.opentargets.org/target/ENSG00000143226/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3616","ensembl":"ENSG00000143226","uniprot":"P12318","entrez":"2212","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stuart S.G. et al, J. Exp. Med, 1987, \"Isolation and expression of cDNA clones encoding a human receptor for IgG (Fc gamma RII)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2824655/","biology":"Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonised antigens. Location: Cell membrane (UniProt). Locus 1q23.3 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","HER2-positive breast cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fcgr2b","kind":"target","name":"FCGR2B","aka":["Fc gamma receptor IIb","Low affinity immunoglobulin gamma Fc region receptor II-b","CD32","CD32B","FcgammaRIIb","FcGRIIB","FCG2","FCGR2"],"tldr":"FCGR2B (Low affinity immunoglobulin gamma Fc region receptor II-b) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer and Non-Hodgkin lymphoma.","summary":"Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.95, animal model 0.42, genetic association 0.36, somatic mutation 0.95). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Malignant Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3618","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3618"},{"label":"UniProt P31994","url":"https://www.uniprot.org/uniprotkb/P31994/entry"},{"label":"NCBI Gene 2213","url":"https://www.ncbi.nlm.nih.gov/gene/2213"},{"label":"Ensembl ENSG00000072694","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072694"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FCGR2B","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3618","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3618","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31994","url":"https://www.uniprot.org/uniprotkb/P31994/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FCGR2B","url":"https://civicdb.org/features/1843","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000072694","url":"https://platform.opentargets.org/target/ENSG00000072694/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: breast cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen FCGR2B","url":"https://www.intogen.org/search?gene=FCGR2B","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FCGR2B: RNA tissue enriched (placenta 378 nTPM); high antibody staining in 1 normal tissue. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P31994","url":"https://www.uniprot.org/uniprotkb/P31994/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FCGR2B","url":"https://civicdb.org/features/1843","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"},{"label":"IntOGen FCGR2B","url":"https://www.intogen.org/search?gene=FCGR2B","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FCGR2B tissue","url":"https://www.proteinatlas.org/ENSG00000072694-FCGR2B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000072694 associations","url":"https://platform.opentargets.org/target/ENSG00000072694/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3618","ensembl":"ENSG00000072694","uniprot":"P31994","entrez":"2213","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stuart S.G. et al, EMBO J, 1989, \"Human IgG Fc receptor (hFcRII; CD32) exists as multiple isoforms in macrophages, lymphocytes and IgG-transporting placental epithelium\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2531080/","biology":"Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor. Isoform IIB1 fails to mediate endocytosis or phagocytosis. Isoform IIB2 does not trigger phagocytosis. Location: Cell membrane (UniProt). Locus 1q23.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.50 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (MLYM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fcgr3a","kind":"target","name":"FCGR3A","aka":["Fc gamma receptor IIIa","Low affinity immunoglobulin gamma Fc region receptor III-A","CD16","CD16a","FcgammaRIIIa","FcGRIIIA","FCGR3","FCG3"],"tldr":"FCGR3A (Low affinity immunoglobulin gamma Fc region receptor III-A) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer and HER2-positive breast cancer.","summary":"Receptor for the invariable Fc fragment of immunoglobulin gamma (IgG). Optimally activated upon binding of clustered antigen-IgG complexes displayed on cell surfaces, triggers lysis of antibody-coated cells, a process known as antibody-dependent cellular cytotoxicity (ADCC). Does not bind free monomeric IgG, thus avoiding inappropriate effector cell activation in the absence of antigenic trigger.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Trastuzumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3619","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3619"},{"label":"UniProt P08637","url":"https://www.uniprot.org/uniprotkb/P08637/entry"},{"label":"NCBI Gene 2214","url":"https://www.ncbi.nlm.nih.gov/gene/2214"},{"label":"Ensembl ENSG00000203747","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000203747"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer","breast-her2-positive"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["complement-in-cancer","nk-cell-recognition"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FCGR3A","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3619","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3619","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08637","url":"https://www.uniprot.org/uniprotkb/P08637/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FCGR3A","url":"https://civicdb.org/features/1844","note":"2 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer, HER2 Positive Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FCGR3A: RNA tissue enhanced (lung 196 nTPM, lymphoid tissue 285 nTPM); blood lineage lineage enriched (monocytes 4,107 nTPM); high antibody staining in 4 normal tissues; highest cancer staining ovarian cancer (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FCGR3A tissue","url":"https://www.proteinatlas.org/ENSG00000203747-FCGR3A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000203747 associations","url":"https://platform.opentargets.org/target/ENSG00000203747/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3619","ensembl":"ENSG00000203747","uniprot":"P08637","entrez":"2214","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ravetch J.V. et al, J. Exp. Med, 1989, \"Alternative membrane forms of Fc gamma RIII(CD16) on human natural killer cells and neutrophils. Cell type-specific expression of two genes that differ in single nucleotide substitutions\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2526846/","biology":"Receptor for the invariable Fc fragment of immunoglobulin gamma (IgG). Optimally activated upon binding of clustered antigen-IgG complexes displayed on cell surfaces, triggers lysis of antibody-coated cells, a process known as antibody-dependent cellular cytotoxicity (ADCC). Does not bind free monomeric IgG, thus avoiding inappropriate effector cell activation in the absence of antigenic trigger. Mediates IgG effector functions on natural killer (NK) cells. Binds antigen-IgG complexes generated upon infection and triggers NK cell-dependent cytokine production and degranulation to limit viral load and propagation. Involved in the generation of memory-like adaptive NK cells capable to produce high amounts of IFNG and to efficiently eliminate virus-infected cells via ADCC. Location: Cell membrane; Secreted (UniProt). Locus 1q23.3 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","HER2-positive breast cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fcrh5","kind":"target","name":"FcRH5 (FCRL5)","aka":["FcRH5","FCRH5","IRTA2","CD307e","Fc receptor-like 5"],"tldr":"FcRH5 is a surface protein found almost only on B cells and myeloma plasma cells, which makes it a target for T-cell engaging antibodies in multiple myeloma.","summary":"FCRL5 encodes Fc receptor-like 5, a B-lineage surface receptor expressed on mature B cells and retained on plasma cells; on myeloma cells expression is near-universal and higher than on normal counterparts, in part through 1q21 gain where the gene sits. Cevostamab, a FcRH5 x CD3 bispecific antibody, is in late-stage trials for relapsed and refractory multiple myeloma; no approval names the antigen yet.","asOf":"2026-09-23","wikipedia":"https://en.wikipedia.org/wiki/FCRL5","links":[{"label":"HGNC HGNC:18508","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18508"},{"label":"UniProt Q96RD9","url":"https://www.uniprot.org/uniprotkb/Q96RD9/entry"}],"tags":["biomarker-parent","surface-antigen"],"related":["fcrh5-expression"],"cancers":["multiple-myeloma","myeloma-relapsed-refractory"],"sections":[],"technologies":[],"targets":[],"drugs":["cevostamab"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"FCRL5","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal lymphoid tissue cells: HPA blood lineage lineage enriched at or above 25 nTPM, and 1 antibody (Cevostamab) aim at it, so normal cells of the lineage are hit too. HPA FCRL5: RNA tissue enriched (lymphoid tissue 34 nTPM); blood lineage lineage enriched (B-cells 14 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Multiple myeloma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FCRL5 tissue","url":"https://www.proteinatlas.org/ENSG00000143297-FCRL5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas FCRL5 pathology","url":"https://www.proteinatlas.org/ENSG00000143297-FCRL5/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143297 associations","url":"https://platform.opentargets.org/target/ENSG00000143297/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18508","ensembl":"ENSG00000143297","uniprot":"Q96RD9","entrez":"83416","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nakayama et al, Biochem. Biophys. Res. Commun, 2001, \"BXMAS1 identifies a cluster of homologous genes differentially expressed in B cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11453668/","biology":"A type I transmembrane protein with immunoglobulin-like domains that modulates B-cell receptor signalling; its restricted lineage expression, like BCMA and GPRC5D, is what makes it a T-cell redirection target.","whereFound":["Multiple myeloma (near-universal on plasma cells)","B-cell lymphomas and chronic lymphocytic leukaemia"],"targetClass":"surface-antigen","prevalence":[]},{"id":"fcrl4","kind":"target","name":"FCRL4","aka":["Fc receptor like 4","Fc receptor-like protein 4","FCRH4","IRTA1","IGFP2","CD307d"],"tldr":"FCRL4 (Fc receptor-like protein 4) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma, Skin cancer, Lung cancer and 2 more.","summary":"May function as an inhibitor of the B-cell receptor signalling. May function in the B-cell-mediated immune response.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.39, genetic association 0.00, somatic mutation 0.83). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18507","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18507"},{"label":"UniProt Q96PJ5","url":"https://www.uniprot.org/uniprotkb/Q96PJ5/entry"},{"label":"NCBI Gene 83417","url":"https://www.ncbi.nlm.nih.gov/gene/83417"},{"label":"Ensembl ENSG00000163518","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163518"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["pancreatic","skin-cancer","lung-cancer","breast-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FCRL4","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18507","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18507","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96PJ5","url":"https://www.uniprot.org/uniprotkb/Q96PJ5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163518","url":"https://platform.opentargets.org/target/ENSG00000163518/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: melanoma 0.55, skin cancer 0.56, breast cancer 0.51, lung cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen FCRL4","url":"https://www.intogen.org/search?gene=FCRL4","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18507","ensembl":"ENSG00000163518","uniprot":"Q96PJ5","entrez":"83417","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hatzivassiliou et al, Immunity, 2001, \"IRTA1 and IRTA2, novel immunoglobulin superfamily receptors expressed in B cells and involved in chromosome 1q21 abnormalities in B cell malignancy\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11290337/","biology":"May function as an inhibitor of the B-cell receptor signalling. May function in the B-cell-mediated immune response. Location: Cell membrane (UniProt). Locus 1q23.1 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fdps","kind":"target","name":"FDPS","aka":["farnesyl diphosphate synthase","Farnesyl pyrophosphate synthase"],"tldr":"FDPS (Farnesyl pyrophosphate synthase) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Prostate cancer, Multiple myeloma and Breast cancer.","summary":"Key enzyme in isoprenoid biosynthesis which catalyses the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyses the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.86, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3631","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3631"},{"label":"UniProt P14324","url":"https://www.uniprot.org/uniprotkb/P14324/entry"},{"label":"NCBI Gene 2224","url":"https://www.ncbi.nlm.nih.gov/gene/2224"},{"label":"Ensembl ENSG00000160752","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160752"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate","multiple-myeloma","breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FDPS","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3631","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3631","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14324","url":"https://www.uniprot.org/uniprotkb/P14324/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000160752","url":"https://platform.opentargets.org/target/ENSG00000160752/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: prostate cancer 0.60, plasma cell myeloma 0.60, breast cancer 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists FDPS among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA FDPS: RNA tissue enhanced (liver 333 nTPM); no normal tissue stained high; highest cancer staining liver cancer (2 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Multiple myeloma, Breast cancer (all types)); Open Targets associates it with 5 specific cancer types at or above 0.5 (plasma cell myeloma, prostate carcinoma, prostate cancer, Paget disease, breast cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FDPS tissue","url":"https://www.proteinatlas.org/ENSG00000160752-FDPS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000160752 associations","url":"https://platform.opentargets.org/target/ENSG00000160752/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3631","ensembl":"ENSG00000160752","uniprot":"P14324","entrez":"2224","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sheares B.T. et al, Biochemistry, 1989, \"Cloning, analysis, and bacterial expression of human farnesyl pyrophosphate synthetase and its regulation in Hep G2 cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2690933/","biology":"Key enzyme in isoprenoid biosynthesis which catalyses the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyses the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate. Location: Cytoplasm (UniProt). Locus 1q22 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.60 with prostate cancer (MONDO_0008315)","Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"fermt2","kind":"target","name":"FERMT2","aka":["FERM domain containing kindlin 2","Fermitin family homolog 2","mig-2","KIND2","UNC112B","PLEKHC1"],"tldr":"FERMT2 (Fermitin family homolog 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with integrins and with phospholipid membranes.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.43, genetic association 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15767"},{"label":"UniProt Q96AC1","url":"https://www.uniprot.org/uniprotkb/Q96AC1/entry"},{"label":"NCBI Gene 10979","url":"https://www.ncbi.nlm.nih.gov/gene/10979"},{"label":"Ensembl ENSG00000073712","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000073712"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FERMT2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:15767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15767","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96AC1","url":"https://www.uniprot.org/uniprotkb/Q96AC1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000073712","url":"https://platform.opentargets.org/target/ENSG00000073712/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:15767","ensembl":"ENSG00000073712","uniprot":"Q96AC1","entrez":"10979","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wick et al, J. Cell Sci, 1994, \"Identification of serum-inducible genes: different patterns of gene regulation during G0->S and G1->S progression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8175911/","biology":"Scaffolding protein that enhances integrin activation mediated by TLN1 and/or TLN2, but activates integrins only weakly by itself. Binds to membranes enriched in phosphoinositides. Enhances integrin-mediated cell adhesion onto the extracellular matrix and cell spreading; this requires both its ability to interact with integrins and with phospholipid membranes. Required for the assembly of focal adhesions. Participates in the connection between extracellular matrix adhesion sites and the actin cytoskeleton and also in the orchestration of actin assembly and cell shape modulation. Recruits FBLIM1 to focal adhesions. Location: Cytoplasm; Cytoplasm, cell cortex; Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, stress fiber (UniProt). Locus 14q22.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fes","kind":"target","name":"FES","aka":["FES proto-oncogene, tyrosine kinase","Tyrosine-protein kinase Fes/Fps"],"tldr":"FES (Tyrosine-protein kinase Fes/Fps) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Leukaemia and Colorectal cancer.","summary":"Tyrosine-protein kinase that acts downstream of cell surface receptors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, cell attachment and cell spreading. Plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signalling in mast cells. Acts down-stream of the activated FCER1 receptor and the mast/stem cell growth factor receptor KIT.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.68, animal model 0.43, genetic association 0.47, somatic mutation 0.97). In OnCo, 1 product record names it (Fluoroestradiol F-18 (FES PET)).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3657","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3657"},{"label":"UniProt P07332","url":"https://www.uniprot.org/uniprotkb/P07332/entry"},{"label":"NCBI Gene 2242","url":"https://www.ncbi.nlm.nih.gov/gene/2242"},{"label":"Ensembl ENSG00000182511","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182511"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","leukaemia","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["fluoroestradiol-f18"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct01986569","nct02398773","nct04252859","nct04692103","nct04883814","nct06260033"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FES","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3657","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3657","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P07332","url":"https://www.uniprot.org/uniprotkb/P07332/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182511","url":"https://platform.opentargets.org/target/ENSG00000182511/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.50, skin cancer 0.53, leukaemia 0.52 (GraphQL API, CC0)"}],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal dendritic cells and granulocytes and monocytes and bone marrow cells and lymphoid tissue cells: HPA finds the gene tissue enhanced in bone marrow, lymphoid tissue, and the 1 medicine aimed at it (Fluoroestradiol F-18 (FES PET)) act on the wild-type protein, so the normal lineage is hit too. HPA FES: RNA tissue enhanced (bone marrow 79 nTPM, lymphoid tissue 110 nTPM); blood lineage group enriched (dendritic cells 163 nTPM, granulocytes 317 nTPM, monocytes 152 nTPM); high antibody staining in 1 normal tissue; highest cancer staining liver cancer (2 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Leukaemia, Colorectal cancer); approvals of single-target medicines aimed at it also list Breast cancer (all types), not counted; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FES tissue","url":"https://www.proteinatlas.org/ENSG00000182511-FES/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas FES pathology","url":"https://www.proteinatlas.org/ENSG00000182511-FES/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000182511 associations","url":"https://platform.opentargets.org/target/ENSG00000182511/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3657","ensembl":"ENSG00000182511","uniprot":"P07332","entrez":"2242","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Roebroek A.J.M. et al, EMBO J, 1985, \"The structure of the human c-fes/fps proto-oncogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/4065096/","biology":"Tyrosine-protein kinase that acts downstream of cell surface receptors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, cell attachment and cell spreading. Plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signalling in mast cells. Acts down-stream of the activated FCER1 receptor and the mast/stem cell growth factor receptor KIT. Plays a role in the regulation of mast cell degranulation. Plays a role in the regulation of cell differentiation and promotes neurite outgrowth in response to NGF signalling. Plays a role in cell scattering and cell migration in response to HGF-induced activation of EZR. Location: Cytoplasm, cytosol; Cytoplasm, cytoskeleton; Cell membrane; Cytoplasmic vesicle (UniProt). Locus 15q26.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.52 with leukaemia (MONDO_0005059)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)"],"targetClass":"kinase","prevalence":[]},{"id":"fev","kind":"target","name":"FEV","aka":["FEV transcription factor, ETS family member","Pet-1"],"tldr":"FEV (FEV transcription factor, ETS family member) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"Functions as a transcriptional regulator. According to PubMed:12761502, it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.67, genetic association 0.00, somatic mutation 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18562","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18562"},{"label":"UniProt Q99581","url":"https://www.uniprot.org/uniprotkb/Q99581/entry"},{"label":"NCBI Gene 54738","url":"https://www.ncbi.nlm.nih.gov/gene/54738"},{"label":"Ensembl ENSG00000163497","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163497"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FEV","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18562","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18562","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99581","url":"https://www.uniprot.org/uniprotkb/Q99581/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163497","url":"https://platform.opentargets.org/target/ENSG00000163497/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:18562","ensembl":"ENSG00000163497","uniprot":"Q99581","entrez":"54738","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Peter et al, Oncogene, 1997, \"A new member of the ETS family fused to EWS in Ewing tumors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9121764/","biology":"Functions as a transcriptional regulator. According to PubMed:12761502, it functions as a transcriptional repressor. Functions in the differentiation and the maintenance of the central serotonergic neurons. May play a role in cell growth. Location: Nucleus (UniProt). Locus 2q35 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"fga","kind":"target","name":"FGA","aka":["fibrinogen alpha chain","Fibrinogen alpha chain"],"tldr":"FGA (Fibrinogen alpha chain) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerise to form an insoluble fibrin matrix. Fibrin has a major function in haemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilise the lesion and guide cell migration during re-epithelialisation.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes clinical 0.43, affected pathway 0.97, literature 0.85, genetic association 0.00, animal model 0.44).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3661","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3661"},{"label":"UniProt P02671","url":"https://www.uniprot.org/uniprotkb/P02671/entry"},{"label":"NCBI Gene 2243","url":"https://www.ncbi.nlm.nih.gov/gene/2243"},{"label":"Ensembl ENSG00000171560","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171560"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.43. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGA","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3661","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3661","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02671","url":"https://www.uniprot.org/uniprotkb/P02671/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171560","url":"https://platform.opentargets.org/target/ENSG00000171560/associations","note":"association with cancer (MONDO_0004992) 0.67;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FGA: RNA tissue enriched (liver 17,202 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FGA tissue","url":"https://www.proteinatlas.org/ENSG00000171560-FGA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171560 associations","url":"https://platform.opentargets.org/target/ENSG00000171560/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3661","ensembl":"ENSG00000171560","uniprot":"P02671","entrez":"2243","firstDescribed":1965,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Blombaeck et al, Acta Chem. Scand, 1965, \"Studies on fibrinopeptides from primates\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P02671/entry","biology":"Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerise to form an insoluble fibrin matrix. Fibrin has a major function in haemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilise the lesion and guide cell migration during re-epithelialisation. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Location: Secreted (UniProt). Locus 4q31.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgb","kind":"target","name":"FGB","aka":["fibrinogen beta chain","Fibrinogen beta chain"],"tldr":"FGB (Fibrinogen beta chain) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerise to form an insoluble fibrin matrix. Fibrin has a major function in haemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilise the lesion and guide cell migration during re-epithelialisation.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.72, affected pathway 0.97, genetic association 0.02, clinical 0.43).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3662","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3662"},{"label":"UniProt P02675","url":"https://www.uniprot.org/uniprotkb/P02675/entry"},{"label":"NCBI Gene 2244","url":"https://www.ncbi.nlm.nih.gov/gene/2244"},{"label":"Ensembl ENSG00000171564","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171564"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.43. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGB","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3662","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3662","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02675","url":"https://www.uniprot.org/uniprotkb/P02675/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171564","url":"https://platform.opentargets.org/target/ENSG00000171564/associations","note":"association with cancer (MONDO_0004992) 0.66;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FGB: RNA tissue enriched (liver 16,765 nTPM); no normal tissue stained high; highest cancer staining carcinoid (2 of 4 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FGB tissue","url":"https://www.proteinatlas.org/ENSG00000171564-FGB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171564 associations","url":"https://platform.opentargets.org/target/ENSG00000171564/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3662","ensembl":"ENSG00000171564","uniprot":"P02675","entrez":"2244","firstDescribed":1965,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Blombaeck et al, Acta Chem. Scand, 1965, \"Studies on fibrinopeptides from primates\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P02675/entry","biology":"Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerise to form an insoluble fibrin matrix. Fibrin has a major function in haemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilise the lesion and guide cell migration during re-epithelialisation. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets. Location: Secreted (UniProt). Locus 4q31.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgd1","kind":"target","name":"FGD1","aka":["FYVE, RhoGEF and PH domain containing 1","FYVE, RhoGEF and PH domain-containing protein 1","ZFYVE3"],"tldr":"FGD1 (FYVE, RhoGEF and PH domain-containing protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer.","summary":"Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3663","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3663"},{"label":"UniProt P98174","url":"https://www.uniprot.org/uniprotkb/P98174/entry"},{"label":"NCBI Gene 2245","url":"https://www.ncbi.nlm.nih.gov/gene/2245"},{"label":"Ensembl ENSG00000102302","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102302"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGD1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3663","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3663","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P98174","url":"https://www.uniprot.org/uniprotkb/P98174/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FGD1","url":"https://www.intogen.org/search?gene=FGD1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3663","ensembl":"ENSG00000102302","uniprot":"P98174","entrez":"2245","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pasteris N.G. et al, Cell, 1994, \"Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7954831/","biology":"Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Location: Cytoplasm; Cell projection, lamellipodium; Cell projection, ruffle; Cytoplasm, cytoskeleton (UniProt). Locus Xp11.22 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"fgd5","kind":"target","name":"FGD5","aka":["FYVE, RhoGEF and PH domain containing 5","FYVE, RhoGEF and PH domain-containing protein 5","ZFYVE23","FLJ39957","FLJ00274"],"tldr":"FGD5 (FYVE, RhoGEF and PH domain-containing protein 5) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19117","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19117"},{"label":"UniProt Q6ZNL6","url":"https://www.uniprot.org/uniprotkb/Q6ZNL6/entry"},{"label":"NCBI Gene 152273","url":"https://www.ncbi.nlm.nih.gov/gene/152273"},{"label":"Ensembl ENSG00000154783","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000154783"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGD5","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:19117","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19117","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6ZNL6","url":"https://www.uniprot.org/uniprotkb/Q6ZNL6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FGD5","url":"https://www.intogen.org/search?gene=FGD5","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:19117","ensembl":"ENSG00000154783","uniprot":"Q6ZNL6","entrez":"152273","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dias Neto et al, Proc. Natl. Acad. Sci. U.S.A, 2000, \"Shotgun sequencing of the human transcriptome with ORF expressed sequence tags\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10737800/","biology":"Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Mediates VEGF-induced CDC42 activation. May regulate proangiogenic action of VEGF in vascular endothelial cells, including network formation, directional movement and proliferation. May play a role in regulating the actin cytoskeleton and cell shape. Location: Cytoplasm, cytoskeleton; Cell projection, ruffle membrane; Endoplasmic reticulum; Golgi apparatus (UniProt). Locus 3p25.1 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"fgf1","kind":"target","name":"FGF1","aka":["fibroblast growth factor 1","Fibroblast growth factor 1","ECGFA","ECGFB","HBGF1","ECGF-beta","FGF-alpha","GLIO703"],"tldr":"FGF1 (Fibroblast growth factor 1) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as a potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.99, genetic association 0.04, clinical 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3665","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3665"},{"label":"UniProt P05230","url":"https://www.uniprot.org/uniprotkb/P05230/entry"},{"label":"NCBI Gene 2246","url":"https://www.ncbi.nlm.nih.gov/gene/2246"},{"label":"Ensembl ENSG00000113578","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113578"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.65. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF1","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3665","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3665","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P05230","url":"https://www.uniprot.org/uniprotkb/P05230/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000113578","url":"https://platform.opentargets.org/target/ENSG00000113578/associations","note":"association with cancer (MONDO_0004992) 0.71;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FGF1: RNA tissue enriched (brain 282 nTPM); high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (female reproductive endometrioid cancer). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FGF1 tissue","url":"https://www.proteinatlas.org/ENSG00000113578-FGF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113578 associations","url":"https://platform.opentargets.org/target/ENSG00000113578/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3665","ensembl":"ENSG00000113578","uniprot":"P05230","entrez":"2246","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jaye et al, Science, 1986, \"Human endothelial cell growth factor: cloning, nucleotide sequence, and chromosome localization\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3523756/","biology":"Plays an important role in the regulation of cell survival, cell division, angiogenesis, cell differentiation and cell migration. Functions as a potent mitogen in vitro. Acts as a ligand for FGFR1 and integrins. Binds to FGFR1 in the presence of heparin leading to FGFR1 dimerisation and activation via sequential autophosphorylation on tyrosine residues which act as docking sites for interacting proteins, leading to the activation of several signalling cascades. Binds to integrin ITGAV:ITGB3. Its binding to integrin, subsequent ternary complex formation with integrin and FGFR1, and the recruitment of PTPN11 to the complex are essential for FGF1 signalling. Location: Secreted; Cytoplasm; Cytoplasm, cell cortex; Cytoplasm, cytosol (UniProt). Locus 5q31.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf10","kind":"target","name":"FGF10","aka":["fibroblast growth factor 10","Fibroblast growth factor 10"],"tldr":"FGF10 (Fibroblast growth factor 10) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.97, literature 0.91, genetic association 0.78, somatic mutation 0.61, animal model 0.90).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3666","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3666"},{"label":"UniProt O15520","url":"https://www.uniprot.org/uniprotkb/O15520/entry"},{"label":"NCBI Gene 2255","url":"https://www.ncbi.nlm.nih.gov/gene/2255"},{"label":"Ensembl ENSG00000070193","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000070193"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF10","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3666","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3666","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15520","url":"https://www.uniprot.org/uniprotkb/O15520/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000070193","url":"https://platform.opentargets.org/target/ENSG00000070193/associations","note":"association with cancer (MONDO_0004992) 0.76;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3666","ensembl":"ENSG00000070193","uniprot":"O15520","entrez":"2255","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Emoto et al, J. Biol. Chem, 1997, \"Structure and expression of human fibroblast growth factor-10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9287324/","biology":"Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing. Location: Secreted (UniProt). Locus 5p12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf13","kind":"target","name":"FGF13","aka":["fibroblast growth factor 13","Fibroblast growth factor 13","FHF2","FGF2","FLJ30672","LINC00889"],"tldr":"FGF13 (Fibroblast growth factor 13) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Microtubule-binding protein which directly binds tubulin and is involved in both polymerisation and stabilisation of microtubules. Through its action on microtubules, may participate in the refinement of axons by negatively regulating axonal and leading processes branching. Plays a crucial role in neuron polarisation and migration in the cerebral cortex and the hippocampus.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3670","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3670"},{"label":"UniProt Q92913","url":"https://www.uniprot.org/uniprotkb/Q92913/entry"},{"label":"NCBI Gene 2258","url":"https://www.ncbi.nlm.nih.gov/gene/2258"},{"label":"Ensembl ENSG00000129682","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129682"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["angiogenic-switch"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF13","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3670","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3670","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92913","url":"https://www.uniprot.org/uniprotkb/Q92913/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FGF13","url":"https://civicdb.org/features/1883","note":"1 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FGF13: RNA tissue enhanced (brain 65 nTPM, skeletal muscle 52 nTPM, tongue 41 nTPM); blood lineage lineage enriched (granulocytes 3 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FGF13 tissue","url":"https://www.proteinatlas.org/ENSG00000129682-FGF13/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000129682 associations","url":"https://platform.opentargets.org/target/ENSG00000129682/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3670","ensembl":"ENSG00000129682","uniprot":"Q92913","entrez":"2258","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Smallwood P.M. et al, Proc. Natl. Acad. Sci. U.S.A, 1996, \"Fibroblast growth factor (FGF) homologous factors: new members of the FGF family implicated in nervous system development\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8790420/","biology":"Microtubule-binding protein which directly binds tubulin and is involved in both polymerisation and stabilisation of microtubules. Through its action on microtubules, may participate in the refinement of axons by negatively regulating axonal and leading processes branching. Plays a crucial role in neuron polarisation and migration in the cerebral cortex and the hippocampus. Regulates voltage-gated sodium channel transport and function. May also play a role in MAPK signalling. Required for the development of axonal initial segment-targeting inhibitory GABAergic synapses made by chandelier neurons. Location: Nucleus; Cytoplasm; Cell projection, filopodium; Cell projection, growth cone (UniProt). Locus Xq26.3-q27.1 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fgf16","kind":"target","name":"FGF16","aka":["fibroblast growth factor 16","Fibroblast growth factor 16","MF4"],"tldr":"FGF16 (Fibroblast growth factor 16) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.86, affected pathway 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3672","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3672"},{"label":"UniProt O43320","url":"https://www.uniprot.org/uniprotkb/O43320/entry"},{"label":"NCBI Gene 8823","url":"https://www.ncbi.nlm.nih.gov/gene/8823"},{"label":"Ensembl ENSG00000196468","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196468"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF16","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3672","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3672","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43320","url":"https://www.uniprot.org/uniprotkb/O43320/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196468","url":"https://platform.opentargets.org/target/ENSG00000196468/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3672","ensembl":"ENSG00000196468","uniprot":"O43320","entrez":"8823","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miyake et al, Biochem. Biophys. Res. Commun, 1998, \"Structure and expression of a novel member, FGF-16, on the fibroblast growth factor family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9473496/","biology":"Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation, and is required for normal cardiomyocyte proliferation and heart development. Location: Secreted (UniProt). Locus Xq21.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf17","kind":"target","name":"FGF17","aka":["fibroblast growth factor 17","Fibroblast growth factor 17","FGF-13"],"tldr":"FGF17 (Fibroblast growth factor 17) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays an important role in the regulation of embryonic development and as signalling molecule in the induction and patterning of the embryonic brain. Required for normal brain development.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.74, affected pathway 0.98, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3673","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3673"},{"label":"UniProt O60258","url":"https://www.uniprot.org/uniprotkb/O60258/entry"},{"label":"NCBI Gene 8822","url":"https://www.ncbi.nlm.nih.gov/gene/8822"},{"label":"Ensembl ENSG00000158815","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158815"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF17","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3673","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3673","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60258","url":"https://www.uniprot.org/uniprotkb/O60258/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000158815","url":"https://platform.opentargets.org/target/ENSG00000158815/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3673","ensembl":"ENSG00000158815","uniprot":"O60258","entrez":"8822","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hoshikawa et al, Biochem. Biophys. Res. Commun, 1998, \"Structure and expression of a novel fibroblast growth factor, FGF-17, preferentially expressed in the embryonic brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9514906/","biology":"Plays an important role in the regulation of embryonic development and as signalling molecule in the induction and patterning of the embryonic brain. Required for normal brain development. Location: Secreted (UniProt). Locus 8p21.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf18","kind":"target","name":"FGF18","aka":["fibroblast growth factor 18","Fibroblast growth factor 18","FGF-18","ZFGF5"],"tldr":"FGF18 (Fibroblast growth factor 18) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.89, affected pathway 0.98, animal model 0.51, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3674","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3674"},{"label":"UniProt O76093","url":"https://www.uniprot.org/uniprotkb/O76093/entry"},{"label":"NCBI Gene 8817","url":"https://www.ncbi.nlm.nih.gov/gene/8817"},{"label":"Ensembl ENSG00000156427","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156427"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF18","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3674","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3674","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O76093","url":"https://www.uniprot.org/uniprotkb/O76093/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000156427","url":"https://platform.opentargets.org/target/ENSG00000156427/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3674","ensembl":"ENSG00000156427","uniprot":"O76093","entrez":"8817","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hu M.C.-T. et al, Mol. Cell. Biol, 1998, \"FGF-18, a novel member of the fibroblast growth factor family, stimulates hepatic and intestinal proliferation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9742123/","biology":"Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation. Location: Secreted (UniProt). Locus 5q35.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf19","kind":"target","name":"FGF19","aka":["fibroblast growth factor 19","Fibroblast growth factor 19"],"tldr":"FGF19 (Fibroblast growth factor 19) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma and Ovarian cancer.","summary":"Involved in the suppression of bile acid biosynthesis through down-regulation of CYP7A1 expression, following positive regulation of the JNK and ERK1/2 cascades. Stimulates glucose uptake in adipocytes. Activity requires the presence of KLB and FGFR4.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 4 variants, naming Sorafenib, FGFR4 Inhibitor H3B-6527 and Fisogatinib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3675","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3675"},{"label":"UniProt O95750","url":"https://www.uniprot.org/uniprotkb/O95750/entry"},{"label":"NCBI Gene 9965","url":"https://www.ncbi.nlm.nih.gov/gene/9965"},{"label":"Ensembl ENSG00000162344","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162344"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["hcc","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct07327034","nct07547553"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF19","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3675","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3675","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95750","url":"https://www.uniprot.org/uniprotkb/O95750/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FGF19","url":"https://civicdb.org/features/7909","note":"5 evidence items, 0 assertions, 4 variants; diseases: Hepatocellular Carcinoma, Ovarian Cancer (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FGF19: RNA tissue enriched (gallbladder 223 nTPM); high antibody staining in 6 normal tissues; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma, Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FGF19 tissue","url":"https://www.proteinatlas.org/ENSG00000162344-FGF19/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162344 associations","url":"https://platform.opentargets.org/target/ENSG00000162344/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3675","ensembl":"ENSG00000162344","uniprot":"O95750","entrez":"9965","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nishimura et al, Biochim. Biophys. Acta, 1999, \"Structure and expression of a novel human FGF, FGF-19, expressed in the fetal brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9931477/","biology":"Involved in the suppression of bile acid biosynthesis through down-regulation of CYP7A1 expression, following positive regulation of the JNK and ERK1/2 cascades. Stimulates glucose uptake in adipocytes. Activity requires the presence of KLB and FGFR4. Location: Secreted (UniProt). Locus 11q13.3 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fgf2","kind":"target","name":"FGF2","aka":["fibroblast growth factor 2","Fibroblast growth factor 2"],"tldr":"FGF2 (Fibroblast growth factor 2) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Acute myeloid leukaemia.","summary":"Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4. Also acts as an integrin ligand which is required for FGF2 signalling. Binds to integrin ITGAV:ITGB3.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Quizartinib. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes clinical 0.62, affected pathway 0.99, literature 0.99, genetic association 0.00, animal model 0.55).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3676","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3676"},{"label":"UniProt P09038","url":"https://www.uniprot.org/uniprotkb/P09038/entry"},{"label":"NCBI Gene 2247","url":"https://www.ncbi.nlm.nih.gov/gene/2247"},{"label":"Ensembl ENSG00000138685","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138685"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["angiogenic-switch"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.62; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3676","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3676","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09038","url":"https://www.uniprot.org/uniprotkb/P09038/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FGF2","url":"https://civicdb.org/features/1872","note":"1 evidence items, 0 assertions, 1 variants; diseases: Acute Myeloid Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000138685","url":"https://platform.opentargets.org/target/ENSG00000138685/associations","note":"association with cancer (MONDO_0004992) 0.71;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA FGF2: RNA low tissue specificity; high antibody staining in 4 normal tissues; highest cancer staining glioma (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 1 specific cancer type at or above 0.5 (female reproductive endometrioid cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FGF2 tissue","url":"https://www.proteinatlas.org/ENSG00000138685-FGF2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138685 associations","url":"https://platform.opentargets.org/target/ENSG00000138685/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3676","ensembl":"ENSG00000138685","uniprot":"P09038","entrez":"2247","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Abraham J.A. et al, Cold Spring Harb. Symp. Quant. Biol, 1986, \"Human basic fibroblast growth factor: nucleotide sequence, genomic organization, and expression in mammalian cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3472745/","biology":"Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4. Also acts as an integrin ligand which is required for FGF2 signalling. Binds to integrin ITGAV:ITGB3. Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration. Functions as a potent mitogen in vitro. Can induce angiogenesis. Location: Secreted; Nucleus (UniProt). Locus 4q28.1 (HGNC).","whereFound":["Acute myeloid leukaemia: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fgf20","kind":"target","name":"FGF20","aka":["fibroblast growth factor 20","Fibroblast growth factor 20"],"tldr":"FGF20 (Fibroblast growth factor 20) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Neurotrophic factor that regulates central nervous development and function.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.49, affected pathway 0.98, animal model 0.56, genetic association 0.05).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3677","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3677"},{"label":"UniProt Q9NP95","url":"https://www.uniprot.org/uniprotkb/Q9NP95/entry"},{"label":"NCBI Gene 26281","url":"https://www.ncbi.nlm.nih.gov/gene/26281"},{"label":"Ensembl ENSG00000078579","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000078579"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF20","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3677","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3677","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NP95","url":"https://www.uniprot.org/uniprotkb/Q9NP95/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000078579","url":"https://platform.opentargets.org/target/ENSG00000078579/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3677","ensembl":"ENSG00000078579","uniprot":"Q9NP95","entrez":"26281","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kirikoshi et al, Biochem. Biophys. Res. Commun, 2000, \"Molecular cloning and characterization of human FGF-20 on chromosome 8p21.3-p22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10913340/","biology":"Neurotrophic factor that regulates central nervous development and function. Location: Secreted (UniProt). Locus 8p22 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf22","kind":"target","name":"FGF22","aka":["fibroblast growth factor 22","Fibroblast growth factor 22"],"tldr":"FGF22 (Fibroblast growth factor 22) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.36, affected pathway 0.97, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3679","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3679"},{"label":"UniProt Q9HCT0","url":"https://www.uniprot.org/uniprotkb/Q9HCT0/entry"},{"label":"NCBI Gene 27006","url":"https://www.ncbi.nlm.nih.gov/gene/27006"},{"label":"Ensembl ENSG00000070388","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000070388"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF22","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3679","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3679","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HCT0","url":"https://www.uniprot.org/uniprotkb/Q9HCT0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000070388","url":"https://platform.opentargets.org/target/ENSG00000070388/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3679","ensembl":"ENSG00000070388","uniprot":"Q9HCT0","entrez":"27006","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nakatake et al, Biochim. Biophys. Acta, 2001, \"Identification of a novel fibroblast growth factor, FGF-22, preferentially expressed in the inner root sheath of the hair follicle\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11342227/","biology":"Plays a role in the fasting response, glucose homeostasis, lipolysis and lipogenesis. Can stimulate cell proliferation (in vitro). May be involved in hair development. Location: Secreted (UniProt). Locus 19p13.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf23","kind":"target","name":"FGF23","aka":["fibroblast growth factor 23","Fibroblast growth factor 23"],"tldr":"FGF23 (Fibroblast growth factor 23) is a protein on the cell surface. The public catalogues list it as a drug target and an antigen, and an approved or late-stage drug is recorded against it.","summary":"Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Up-regulates EGR1 expression in the presence of KL.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.90, affected pathway 0.98, animal model 0.53). In OnCo, 1 product record names it (Burosumab).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3680","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3680"},{"label":"UniProt Q9GZV9","url":"https://www.uniprot.org/uniprotkb/Q9GZV9/entry"},{"label":"NCBI Gene 8074","url":"https://www.ncbi.nlm.nih.gov/gene/8074"},{"label":"Ensembl ENSG00000118972","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118972"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["burosumab"],"companies":[],"institutions":[],"pathways":["fgfr-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 1 OnCo product record names it; a membrane or secreted protein (UniProt keywords) that 1 antibody-based OnCo product name. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF23","role":["drug-target","antigen"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3680","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3680","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9GZV9","url":"https://www.uniprot.org/uniprotkb/Q9GZV9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000118972","url":"https://platform.opentargets.org/target/ENSG00000118972/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 1 antibody (Burosumab) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA FGF23: RNA tissue enhanced (heart muscle 5 nTPM, liver 5 nTPM); blood lineage lineage enriched (granulocytes 9 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 2 specific cancer types at or above 0.5 (tumoral calcinosis, hyperphosphatemic, familial, 2, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FGF23 tissue","url":"https://www.proteinatlas.org/ENSG00000118972-FGF23/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas FGF23 pathology","url":"https://www.proteinatlas.org/ENSG00000118972-FGF23/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118972 associations","url":"https://platform.opentargets.org/target/ENSG00000118972/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3680","ensembl":"ENSG00000118972","uniprot":"Q9GZV9","entrez":"8074","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamashita et al, Biochem. Biophys. Res. Commun, 2000, \"Identification of a novel fibroblast growth factor, FGF-23, preferentially expressed in the ventrolateral thalamic nucleus of the brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11032749/","biology":"Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Up-regulates EGR1 expression in the presence of KL. Acts directly on the parathyroid to decrease PTH secretion. Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralisation. Location: Secreted (UniProt). Locus 12p13.32 (HGNC).","whereFound":[],"targetClass":"surface-antigen","prevalence":[]},{"id":"fgf3","kind":"target","name":"FGF3","aka":["fibroblast growth factor 3","Fibroblast growth factor 3","HBGF-3","INT2"],"tldr":"FGF3 (Fibroblast growth factor 3) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer and Hepatocellular carcinoma.","summary":"Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Sorafenib and Dovitinib. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.49, affected pathway 0.92, animal model 0.25, genetic association 0.13).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3681","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3681"},{"label":"UniProt P11487","url":"https://www.uniprot.org/uniprotkb/P11487/entry"},{"label":"NCBI Gene 2248","url":"https://www.ncbi.nlm.nih.gov/gene/2248"},{"label":"Ensembl ENSG00000186895","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186895"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF3","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3681","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3681","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11487","url":"https://www.uniprot.org/uniprotkb/P11487/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FGF3","url":"https://civicdb.org/features/1873","note":"3 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer, Hepatocellular Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000186895","url":"https://platform.opentargets.org/target/ENSG00000186895/associations","note":"association with cancer (MONDO_0004992) 0.66;  (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FGF3: RNA tissue enriched (brain 5 nTPM); high antibody staining in 1 normal tissue. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Hepatocellular carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FGF3 tissue","url":"https://www.proteinatlas.org/ENSG00000186895-FGF3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000186895 associations","url":"https://platform.opentargets.org/target/ENSG00000186895/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3681","ensembl":"ENSG00000186895","uniprot":"P11487","entrez":"2248","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Brooks et al, Oncogene, 1989, \"Sequence organization of the human int-2 gene and its expression in teratocarcinoma cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2470007/","biology":"Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development. Location: Secreted (UniProt). Locus 11q13.3 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","Hepatocellular carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fgf4","kind":"target","name":"FGF4","aka":["fibroblast growth factor 4","Fibroblast growth factor 4","K-FGF","HBGF-4","HST-1","HSTF1"],"tldr":"FGF4 (Fibroblast growth factor 4) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma.","summary":"Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. May play a role in embryonic molar tooth bud development via inducing the expression of MSX1, MSX2 and MSX1-mediated expression of SDC1 in dental mesenchyme cells.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 2 variants, naming Sorafenib. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.40, affected pathway 0.94, genetic association 0.05).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3682","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3682"},{"label":"UniProt P08620","url":"https://www.uniprot.org/uniprotkb/P08620/entry"},{"label":"NCBI Gene 2249","url":"https://www.ncbi.nlm.nih.gov/gene/2249"},{"label":"Ensembl ENSG00000075388","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000075388"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF4","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3682","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3682","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08620","url":"https://www.uniprot.org/uniprotkb/P08620/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FGF4","url":"https://civicdb.org/features/1874","note":"4 evidence items, 0 assertions, 2 variants; diseases: Cancer, Hepatocellular Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000075388","url":"https://platform.opentargets.org/target/ENSG00000075388/associations","note":"association with cancer (MONDO_0004992) 0.66;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA not detected, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FGF4: RNA not detected; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FGF4 tissue","url":"https://www.proteinatlas.org/ENSG00000075388-FGF4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000075388 associations","url":"https://platform.opentargets.org/target/ENSG00000075388/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3682","ensembl":"ENSG00000075388","uniprot":"P08620","entrez":"2249","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yoshida et al, Proc. Natl. Acad. Sci. U.S.A, 1987, \"Genomic sequence of hst, a transforming gene encoding a protein homologous to fibroblast growth factors and the int-2-encoded protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2959959/","biology":"Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. May play a role in embryonic molar tooth bud development via inducing the expression of MSX1, MSX2 and MSX1-mediated expression of SDC1 in dental mesenchyme cells. Location: Secreted (UniProt). Locus 11q13.3 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fgf5","kind":"target","name":"FGF5","aka":["fibroblast growth factor 5","Fibroblast growth factor 5"],"tldr":"FGF5 (Fibroblast growth factor 5) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.91, affected pathway 0.98, animal model 0.59, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3683","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3683"},{"label":"UniProt P12034","url":"https://www.uniprot.org/uniprotkb/P12034/entry"},{"label":"NCBI Gene 2250","url":"https://www.ncbi.nlm.nih.gov/gene/2250"},{"label":"Ensembl ENSG00000138675","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138675"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3683","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3683","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12034","url":"https://www.uniprot.org/uniprotkb/P12034/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138675","url":"https://platform.opentargets.org/target/ENSG00000138675/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3683","ensembl":"ENSG00000138675","uniprot":"P12034","entrez":"2250","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhan et al, Mol. Cell. Biol, 1988, \"The human FGF-5 oncogene encodes a novel protein related to fibroblast growth factors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3211147/","biology":"Plays an important role in the regulation of cell proliferation and cell differentiation. Required for normal regulation of the hair growth cycle. Functions as an inhibitor of hair elongation by promoting progression from anagen, the growth phase of the hair follicle, into catagen the apoptosis-induced regression phase. Location: Secreted (UniProt). Locus 4q21.21 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf6","kind":"target","name":"FGF6","aka":["fibroblast growth factor 6","Fibroblast growth factor 6"],"tldr":"FGF6 (Fibroblast growth factor 6) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.33, affected pathway 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3684","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3684"},{"label":"UniProt P10767","url":"https://www.uniprot.org/uniprotkb/P10767/entry"},{"label":"NCBI Gene 2251","url":"https://www.ncbi.nlm.nih.gov/gene/2251"},{"label":"Ensembl ENSG00000111241","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111241"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF6","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3684","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3684","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10767","url":"https://www.uniprot.org/uniprotkb/P10767/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000111241","url":"https://platform.opentargets.org/target/ENSG00000111241/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3684","ensembl":"ENSG00000111241","uniprot":"P10767","entrez":"2251","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Marics et al, Oncogene, 1989, \"Characterization of the HST-related FGF.6 gene, a new member of the fibroblast growth factor gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2649847/","biology":"Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration. Location: Secreted, extracellular space (UniProt). Locus 12p13.32 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf7","kind":"target","name":"FGF7","aka":["fibroblast growth factor 7","Fibroblast growth factor 7"],"tldr":"FGF7 (Fibroblast growth factor 7) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. Growth factor active on keratinocytes.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.97, animal model 0.55, genetic association 0.45). In OnCo, 1 product record names it (Palifermin).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3685","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3685"},{"label":"UniProt P21781","url":"https://www.uniprot.org/uniprotkb/P21781/entry"},{"label":"NCBI Gene 2252","url":"https://www.ncbi.nlm.nih.gov/gene/2252"},{"label":"Ensembl ENSG00000140285","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140285"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["palifermin"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 1 OnCo product record names it. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF7","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3685","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3685","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P21781","url":"https://www.uniprot.org/uniprotkb/P21781/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140285","url":"https://platform.opentargets.org/target/ENSG00000140285/associations","note":"association with cancer (MONDO_0004992) 0.69;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Palifermin) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA FGF7: RNA low tissue specificity; no normal tissue stained high; highest cancer staining thyroid cancer (1 of 4 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (female reproductive endometrioid cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FGF7 tissue","url":"https://www.proteinatlas.org/ENSG00000140285-FGF7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000140285 associations","url":"https://platform.opentargets.org/target/ENSG00000140285/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3685","ensembl":"ENSG00000140285","uniprot":"P21781","entrez":"2252","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Finch P.W. et al, Science, 1989, \"Human KGF is FGF-related with properties of a paracrine effector of epithelial cell growth\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2475908/","biology":"Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. Growth factor active on keratinocytes. Possible major paracrine effector of normal epithelial cell proliferation. Location: Secreted (UniProt). Locus 15q21.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf8","kind":"target","name":"FGF8","aka":["fibroblast growth factor 8","Fibroblast growth factor 8"],"tldr":"FGF8 (Fibroblast growth factor 8) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.92, affected pathway 0.98, animal model 0.30, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3686","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3686"},{"label":"UniProt P55075","url":"https://www.uniprot.org/uniprotkb/P55075/entry"},{"label":"NCBI Gene 2253","url":"https://www.ncbi.nlm.nih.gov/gene/2253"},{"label":"Ensembl ENSG00000107831","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107831"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF8","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3686","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3686","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55075","url":"https://www.uniprot.org/uniprotkb/P55075/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107831","url":"https://platform.opentargets.org/target/ENSG00000107831/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3686","ensembl":"ENSG00000107831","uniprot":"P55075","entrez":"2253","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tanaka et al, FEBS Lett, 1995, \"Human androgen-induced growth factor in prostate and breast cancer cells: its molecular cloning and growth properties\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7737407/","biology":"Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Plays a role in neurite outgrowth in hippocampal cells. Location: Secreted (UniProt). Locus 10q24.32 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgf9","kind":"target","name":"FGF9","aka":["fibroblast growth factor 9","Fibroblast growth factor 9"],"tldr":"FGF9 (Fibroblast growth factor 9) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumours.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.99, animal model 0.85, genetic association 0.29).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3687","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3687"},{"label":"UniProt P31371","url":"https://www.uniprot.org/uniprotkb/P31371/entry"},{"label":"NCBI Gene 2254","url":"https://www.ncbi.nlm.nih.gov/gene/2254"},{"label":"Ensembl ENSG00000102678","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102678"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGF9","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3687","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3687","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31371","url":"https://www.uniprot.org/uniprotkb/P31371/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000102678","url":"https://platform.opentargets.org/target/ENSG00000102678/associations","note":"association with cancer (MONDO_0004992) 0.67;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3687","ensembl":"ENSG00000102678","uniprot":"P31371","entrez":"2254","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miyamoto et al, Mol. Cell. Biol, 1993, \"Molecular cloning of a novel cytokine cDNA encoding the ninth member of the fibroblast growth factor family, which has a unique secretion property\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8321227/","biology":"Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumours. Location: Secreted (UniProt). Locus 13q12.11 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgfr1","kind":"target","name":"FGFR1","aka":[],"tldr":"A growth receptor amplified in squamous lung cancer and fused in a rare blood cancer. Pemigatinib is approved for the FGFR1-rearranged myeloid and lymphoid neoplasm, and pan-FGFR drugs block FGFR1 too, which is why they raise blood phosphate.","summary":"FGFR1 is amplified in a minority of squamous lung and breast cancers and rearranged, most often with ZMYM2 or BCR, in the myeloid or lymphoid neoplasm with eosinophilia and FGFR1 rearrangement, an aggressive disease that responds to pemigatinib, approved for it in 2022. The pan-FGFR inhibitors erdafitinib, pemigatinib and futibatinib all inhibit FGFR1, and because FGFR1 in the kidney controls phosphate excretion, hyperphosphataemia is their shared class effect and dose marker. FGFR1 amplification alone has proved a weak predictor of response to FGFR inhibitors in solid tumours.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Fibroblast_growth_factor_receptor_1","links":[{"label":"UniProt P11362: FGFR1","url":"https://www.uniprot.org/uniprotkb/P11362/entry"}],"tags":[],"related":[],"cancers":["myeloproliferative-neoplasms","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["pemigatinib","erdafitinib","futibatinib"],"companies":[],"institutions":[],"pathways":["fgfr-signalling"],"terms":["gene-amplification"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-weiss-fgfr1-amplification-squamous-lung-sci-transl-med-2010"],"journals":[],"dependsOn":[],"notes":["Lung cancer: focally amplified in 17 to 22% of squamous tumours and 2.7% of adenocarcinomas, the first therapeutically tractable alteration found in squamous disease (Weiss 2010; cBioPortal). It is also the standard example of amplification not equalling dependence: amplified cell lines die under FGFR inhibition, and patients selected on copy number alone have responded poorly."],"symbol":"FGFR1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 3 medicines aimed at it (Pemigatinib, Erdafitinib, Futibatinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA FGFR1: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Myeloid neoplasms); approvals of single-target medicines aimed at it also list Biliary tract cancer (all types), Bladder & urothelial cancer, not counted; Open Targets associates it with 11 specific cancer types at or above 0.5 (encephalocraniocutaneous lipomatosis, renal cell carcinoma, urothelial carcinoma, pilocytic astrocytoma, colorectal cancer, non-small cell lung carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FGFR1 tissue","url":"https://www.proteinatlas.org/ENSG00000077782-FGFR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000077782 associations","url":"https://platform.opentargets.org/target/ENSG00000077782/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3688","ensembl":"ENSG00000077782","uniprot":"P11362","entrez":"2260","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ruta et al, Oncogene, 1988, \"A novel protein tyrosine kinase gene whose expression is modulated during endothelial cell differentiation\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P11362/entry","biology":"Receptor tyrosine kinase; gene amplification in squamous cancers and fusions in the 8p11 myeloproliferative syndrome; renal FGFR1 mediates the hyperphosphataemia of pan-FGFR inhibitors.","whereFound":["Myeloid or lymphoid neoplasm with FGFR1 rearrangement","Squamous non-small-cell lung cancer (amplification)","Hormone receptor-positive breast cancer (amplification)","Non-small-cell lung cancer: focal high-level amplification 17-22%"],"targetClass":"kinase","prevalence":[{"cancerId":"nsclc","pct":"about 20","measure":"FGFR1 amplification in squamous cell carcinoma of the lung","source":"https://doi.org/10.1126/scitranslmed.3001451","note":"Weiss and colleagues found focal FGFR1 amplification in about a fifth of squamous lung cancers and rarely in adenocarcinoma."},{"cancerId":"nsclc","pct":"17-22","measure":"Focal high-level amplification","source":"https://www.cbioportal.org/study/summary?id=lusc_tcga_pan_can_atlas_2018","note":"cBioPortal high-level amplification: 83 of 487, 17.0%, in lusc_tcga_pan_can_atlas_2018; 30 of 178, 16.9%, in lusc_tcga_pub; 102 of 1,144, 8.9%, in the combined nsclc_tcga_broad_2016; against 14 of 511, 2.7%, in lung adenocarcinoma. Amplification was found in a systematic copy-number search of 155 squamous cell lung cancers and confirmed by fluorescence in situ hybridisation in 22% of an independent squamous cohort (Weiss 2010)."}]},{"id":"fgfr1op2","kind":"target","name":"FGFR1OP2","aka":["FGFR1 oncogene partner 2","DKFZp564O1863"],"tldr":"FGFR1OP2 (FGFR1 oncogene partner 2) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Leukaemia.","summary":"May be involved in wound healing pathway.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.22, affected pathway 0.95, animal model 0.56, genetic association 0.03).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23098"},{"label":"UniProt Q9NVK5","url":"https://www.uniprot.org/uniprotkb/Q9NVK5/entry"},{"label":"NCBI Gene 26127","url":"https://www.ncbi.nlm.nih.gov/gene/26127"},{"label":"Ensembl ENSG00000111790","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111790"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGFR1OP2","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23098","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NVK5","url":"https://www.uniprot.org/uniprotkb/Q9NVK5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000111790","url":"https://platform.opentargets.org/target/ENSG00000111790/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: leukaemia 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:23098","ensembl":"ENSG00000111790","uniprot":"Q9NVK5","entrez":"26127","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang Q.-H. et al, Genome Res, 2000, \"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11042152/","biology":"May be involved in wound healing pathway. Location: Cytoplasm (UniProt). Locus 12p11.23 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.55 with leukaemia (MONDO_0005059)"],"targetClass":"other","prevalence":[]},{"id":"fgfr2","kind":"target","name":"FGFR2","aka":[],"tldr":"FGFR2 is a growth receptor fused in bile-duct cancer and overproduced in gastric cancer.","summary":"FGFR2 is a receptor tyrosine kinase that cancers activate in two different ways. Fusions, found in roughly 10 to 15 percent of intrahepatic cholangiocarcinoma, respond to the selective inhibitors pemigatinib and futibatinib; FGFR2b overexpression or amplification, found in about 3 to 8 percent of gastric cancers, is targeted by the antibody bemarituzumab (FORTITUDE-101 positive on overall survival in 2025) and by FGFR2b antibody-drug conjugates. FGFR3 alterations, present in 15 to 20 percent of urothelial cancers, are the related target of erdafitinib. Acquired kinase-domain mutations limit the durability of FGFR2 inhibitors, and hyperphosphataemia and eye toxicity are class effects. Endometrial cancer is a further setting under study. For a newcomer, FGFR2 is a growth receptor fused in bile-duct cancer and overproduced in gastric cancer, treatable in both.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Fibroblast_growth_factor_receptor_2","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Fibroblast_growth_factor_receptor_2"}],"tags":["driver","kinase"],"related":["fgfr2-fusion-rearrangement"],"cancers":["cholangiocarcinoma","gastric","urothelial","pancreatic","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":["therascreen-cdx","hmpl-453","tar-210","tyra-300","absk061","cgt4859","lirafugratinib"],"companies":["cogent-biosciences","relay-therapeutics","tyra-biosciences"],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","fgfr-signalling","gastric-cancer-signalling"],"terms":[],"trials":["nct05678270","nct06378593"],"people":[],"bottlenecks":[],"keyPapers":["paper-philip-kras-wild-type-pancreatic-ccr-2022","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-nakamura-biliary-genomic-spectra-nat-genet-2015","paper-javle-biliary-ngs-cancer-2016"],"journals":[],"dependsOn":[],"notes":["Pancreatic ductal adenocarcinoma: FGFR2 fusions in about 0.2% overall and 5.2% of KRAS wild-type tumours (cBioPortal; Philip 2022); no FGFR inhibitor is approved in this disease, so patients are directed to tumour-agnostic or basket trials.","Gallbladder cancer: no FGFR2 fusion among the structural variants deposited for cBioPortal gbc_mskcc_2022 and no recurrent structural variants in the cohort (Giraldo 2022); FGFR2 fusions belong to intrahepatic cholangiocarcinoma (Nakamura 2015)."],"symbol":"FGFR2","role":[],"sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (FGFR2 fusion or rearrangement) absent from normal cells. HPA FGFR2: RNA tissue enriched (brain 549 nTPM); blood lineage lineage enriched (granulocytes 3 nTPM); no normal tissue stained high; highest cancer staining skin cancer (5 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Gastric & gastro-oesophageal junction cancer, Bladder & urothelial cancer); Open Targets associates it with 17 specific cancer types at or above 0.5 (gastric cancer, breast carcinoma, colorectal cancer, cholangiocarcinoma, ovarian carcinoma, breast cancer and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"FGFR2 fusion or rearrangement label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=9e1f2222-1d89-4e63-989c-ccebe2ab1eb4","note":"FGFR2 fusion or other rearrangement"},{"label":"Human Protein Atlas FGFR2 tissue","url":"https://www.proteinatlas.org/ENSG00000066468-FGFR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000066468 associations","url":"https://platform.opentargets.org/target/ENSG00000066468/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3689","ensembl":"ENSG00000066468","uniprot":"P21802","entrez":"2263","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dionne C.A. et al, EMBO J, 1990, \"Cloning and expression of two distinct high-affinity receptors cross-reacting with acidic and basic fibroblast growth factors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1697263/","biology":"Receptor tyrosine kinase; FGFR3 alterations are the urothelial counterpart (erdafitinib).","whereFound":["Cholangiocarcinoma","Gastric","Endometrial","Pancreatic ductal adenocarcinoma: gene fusion 0.2%","Gallbladder cancer: fusion, mutation or amplification 1%"],"targetClass":"kinase","prevalence":[{"cancerId":"cholangiocarcinoma","pct":"10-15","measure":"Fusion (intrahepatic)","source":"https://www.cbioportal.org/study/summary?id=chol_tcga_pan_can_atlas_2018"},{"cancerId":"gastric","pct":"3-8","measure":"FGFR2b overexpression/amplification","source":"https://www.cbioportal.org/study/summary?id=stad_tcga_pan_can_atlas_2018","note":"FORTITUDE-101 selected IHC 2+/3+"},{"cancerId":"urothelial","pct":"15-20","measure":"FGFR3 alterations (related target)","source":"https://www.cbioportal.org/study/summary?id=blca_tcga_pan_can_atlas_2018","note":"FGFR3 mutations/fusions; erdafitinib"},{"cancerId":"pancreatic","pct":"0.2","measure":"Gene fusion","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal structural variants: 4 of 2,336, 0.17% (FGFR2-CAT 2, FGFR2-SHTN1), in pdac_msk_2024; 5.2% of 266 KRAS wild-type tumours (Philip 2022). Other receptor kinase fusions in pdac_msk_2024: ROS1 5 (GOPC-ROS1), RAF1 4, RET 2 (NCOA4-RET), MET 2 (KANK1-MET), ERBB2 2, EGFR 3, FGFR1 2, FGFR3 1 (cBioPortal)."},{"cancerId":"gallbladder","pct":"1","measure":"Fusion, mutation or amplification","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"No FGFR2 fusion among the structural variants deposited for cBioPortal gbc_mskcc_2022; FGFR2 mutation in 3 of 244, 1.2%, and amplification in 3 of 244, 1.2%; no recurrent structural variants in the cohort (Giraldo 2022)."}]},{"id":"fgfr3-receptor","kind":"target","name":"FGFR3","aka":[],"tldr":"A growth-factor receptor that is mutated or fused in a sizeable minority of bladder cancers. Erdafitinib blocks it and is the first targeted drug approved for urothelial cancer selected by a genomic test.","summary":"FGFR3 activating mutations and FGFR3::TACC3 fusions drive a subset of urothelial carcinomas, especially the luminal-papillary type, and are also common in non-invasive bladder tumours. Erdafitinib, a pan-FGFR inhibitor, received accelerated US approval in 2019 for FGFR3- or FGFR2-altered advanced urothelial cancer and full approval in 2024 after the THOR trial showed a survival benefit over chemotherapy in patients previously treated with a checkpoint inhibitor. Hyperphosphataemia, from FGFR1 blockade in the kidney, and eye toxicity are the class effects. FGFR3-altered tumours tend to be immunologically cold, which shapes the debate about sequencing targeted therapy and immunotherapy.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Fibroblast_growth_factor_receptor_3","links":[{"label":"UniProt P22607: FGFR3","url":"https://www.uniprot.org/uniprotkb/P22607/entry"}],"tags":[],"related":["fgfr2","fgfr3-alteration"],"cancers":["urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":["erdafitinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["thor"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"FGFR3","role":[],"sources":[],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (FGFR3 alteration (mutation or fusion)) absent from normal cells. HPA FGFR3: RNA tissue enhanced (brain 149 nTPM, esophagus 127 nTPM, skin 1 257 nTPM); high antibody staining in 3 normal tissues; highest cancer staining testis cancer (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer); Open Targets associates it with 14 specific cancer types at or above 0.5 (urinary bladder carcinoma, urinary bladder cancer, nevus, epidermal, cervical cancer, colorectal cancer, renal cell carcinoma and more); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"FGFR3 alteration (mutation or fusion) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=2a8aa5c0-6c92-4566-8c45-e8f4d1fc20ee","note":"Susceptible FGFR3 genetic alteration"},{"label":"Human Protein Atlas FGFR3 tissue","url":"https://www.proteinatlas.org/ENSG00000068078-FGFR3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000068078 associations","url":"https://platform.opentargets.org/target/ENSG00000068078/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3690","ensembl":"ENSG00000068078","uniprot":"P22607","entrez":"2261","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Partanen et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Putative tyrosine kinases expressed in K-562 human leukemia cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2247464/","biology":"Receptor tyrosine kinase for fibroblast growth factors; activating point mutations (S249C, Y373C) and TACC3 fusions in urothelial carcinoma.","whereFound":["Urothelial carcinoma, most often luminal-papillary and non-invasive tumours","Multiple myeloma with t(4;14)"],"targetClass":"kinase","prevalence":[{"cancerId":"urothelial","pct":"15-20","measure":"FGFR3 mutation or FGFR2/3 fusion in advanced urothelial carcinoma","source":"https://doi.org/10.1056/NEJMoa1817323","note":"The BLC2001 trial of erdafitinib enrolled patients with these alterations, which its report describes as present in roughly a fifth of advanced urothelial carcinomas."}]},{"id":"fgfr4","kind":"target","name":"FGFR4","aka":["fibroblast growth factor receptor 4","Fibroblast growth factor receptor 4","JTK2","CD334"],"tldr":"FGFR4 (Fibroblast growth factor receptor 4) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Sarcomas, Biliary tract cancer, Colorectal cancer and 5 more.","summary":"Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2.\n\nCIViC holds 12 clinical evidence items and 0 assertions across 6 variants, naming FGF/VEGF Receptor Tyrosine Kinase Inhibitor, PD173074, Erlotinib, Sorafenib and Ponatinib and others. Open Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes clinical 0.98, affected pathway 0.90, literature 0.99, genetic association 0.00, somatic mutation 0.87). IntOGen calls it a driver in 3 cohorts (0 activating, 3 loss-of-function), covering Glioblastoma Multiforme, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3691","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3691"},{"label":"UniProt P22455","url":"https://www.uniprot.org/uniprotkb/P22455/entry"},{"label":"NCBI Gene 2264","url":"https://www.ncbi.nlm.nih.gov/gene/2264"},{"label":"Ensembl ENSG00000160867","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160867"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["sarcoma","biliary-tract-cancer","colorectal","lung-cancer","breast-cancer","gastric","ovarian","hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.98; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 12 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Alveolar Rhabdomyosarcoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGFR4","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3691","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3691","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P22455","url":"https://www.uniprot.org/uniprotkb/P22455/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FGFR4","url":"https://civicdb.org/features/1887","note":"12 evidence items, 0 assertions, 6 variants; diseases: Lung Adenocarcinoma, Rhabdomyosarcoma, Ovarian Cancer, Stomach Cancer, Ewing Sarcoma and 4 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000160867","url":"https://platform.opentargets.org/target/ENSG00000160867/associations","note":"association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, colorectal cancer 0.64, gastric cancer 0.51, cholangiocarcinoma 0.59, urinary bladder cancer 0.57, melanoma 0.60 (GraphQL API, CC0)"},{"label":"IntOGen FGFR4","url":"https://www.intogen.org/search?gene=FGFR4","note":"driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FGFR4: RNA tissue enhanced (liver 82 nTPM, lung 63 nTPM); no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Biliary tract cancer (all types), Colorectal cancer, Lung cancer (all types), Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Ovarian cancer and more); Open Targets associates it with 5 specific cancer types at or above 0.5 (urothelial carcinoma, rhabdomyosarcoma, cholangiocarcinoma, non-small cell lung carcinoma, breast carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P22455","url":"https://www.uniprot.org/uniprotkb/P22455/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FGFR4","url":"https://civicdb.org/features/1887","note":"12 evidence items, 0 assertions, 6 variants; diseases: Lung Adenocarcinoma, Rhabdomyosarcoma, Ovarian Cancer, Stomach Cancer, Ewing Sarcoma and 4 more (GraphQL API, CC0)"},{"label":"IntOGen FGFR4","url":"https://www.intogen.org/search?gene=FGFR4","note":"driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FGFR4 tissue","url":"https://www.proteinatlas.org/ENSG00000160867-FGFR4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000160867 associations","url":"https://platform.opentargets.org/target/ENSG00000160867/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3691","ensembl":"ENSG00000160867","uniprot":"P22455","entrez":"2264","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Partanen et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Putative tyrosine kinases expressed in K-562 human leukemia cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2247464/","biology":"Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 and FRS2. Ligand binding leads to the activation of several signalling cascades. Activation of PLCG1 leads to the production of the cellular signalling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signalling pathway, as well as of the AKT1 signalling pathway. Location: Cell membrane; Endosome; Endoplasmic reticulum; Secreted (UniProt). Locus 5q35.2 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.69 with sarcoma (MONDO_0005089)","Biliary tract cancer: Open Targets association 0.68 with biliary tract cancer (MONDO_0003060)","Colorectal cancer: Open Targets association 0.64 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.62 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056); CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"fgg","kind":"target","name":"FGG","aka":["fibrinogen gamma chain","Fibrinogen gamma chain"],"tldr":"FGG (Fibrinogen gamma chain) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerises to form an insoluble fibrin matrix. Has a major function in haemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilise the lesion and guide cell migration during re-epithelialisation.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes clinical 0.43, affected pathway 0.97, literature 0.84, genetic association 0.24, animal model 0.38).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3694","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3694"},{"label":"UniProt P02679","url":"https://www.uniprot.org/uniprotkb/P02679/entry"},{"label":"NCBI Gene 2266","url":"https://www.ncbi.nlm.nih.gov/gene/2266"},{"label":"Ensembl ENSG00000171557","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171557"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.43. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGG","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3694","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3694","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02679","url":"https://www.uniprot.org/uniprotkb/P02679/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171557","url":"https://platform.opentargets.org/target/ENSG00000171557/associations","note":"association with cancer (MONDO_0004992) 0.68;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FGG: RNA tissue enriched (liver 15,475 nTPM); high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FGG tissue","url":"https://www.proteinatlas.org/ENSG00000171557-FGG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171557 associations","url":"https://platform.opentargets.org/target/ENSG00000171557/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3694","ensembl":"ENSG00000171557","uniprot":"P02679","entrez":"2266","firstDescribed":1980,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Henschen et al, 1980, \"Human fibrinogen: sequence, sulfur bridges, glycosylation and some structural variants\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P02679/entry","biology":"Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerises to form an insoluble fibrin matrix. Has a major function in haemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilise the lesion and guide cell migration during re-epithelialisation. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Location: Secreted (UniProt). Locus 4q32.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fgl1","kind":"target","name":"FGL1","aka":["fibrinogen like 1","HFREP-1","hepassocin"],"tldr":"FGL1 is a liver protein that some tumours secrete; it binds LAG-3 on T cells and switches them off, separately from the MHC class II route. It explains part of how LAG-3 blockade works.","summary":"FGL1 (chromosome 8p22) is an immune-suppressive molecule that inhibits antigen-specific T-cell activation as a ligand of LAG-3, initiating signalling that inhibits the T-cell receptor in the immunological synapse; it binds LAG-3 independently of MHC class II, is liver-specific under normal conditions and is secreted by hepatocytes and certain tumour cells (UniProt Q08830, Q15116 context from P18627).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:3695","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3695"},{"label":"UniProt Q08830","url":"https://www.uniprot.org/uniprotkb/Q08830/entry"},{"label":"NCBI Gene 2267","url":"https://www.ncbi.nlm.nih.gov/gene/2267"}],"tags":["checkpoint-map"],"related":["lag3","hla-dra","relatlimab-nivolumab"],"cancers":[],"sections":[],"technologies":["lag3-blockade"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["pd1-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"FGL1","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:3695","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3695","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt Q08830","url":"https://www.uniprot.org/uniprotkb/Q08830/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:3695","ensembl":"ENSG00000104760","uniprot":"Q08830","entrez":"2267","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamamoto et al, Biochem. Biophys. Res. Commun, 1993, \"Molecular cloning and initial characterization of a novel fibrinogen-related gene, HFREP-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8390249/","biology":"A secreted fibrinogen-family protein; the second LAG-3 ligand after MHC class II.","whereFound":["Liver (UniProt Q08830)","Secreted by certain tumour cells (UniProt P18627)"],"targetClass":"checkpoint","prevalence":[]},{"id":"fgr","kind":"target","name":"FGR","aka":["FGR proto-oncogene, Src family tyrosine kinase","Tyrosine-protein kinase Fgr","c-fgr","p55c-fgr","SRC2"],"tldr":"FGR (Tyrosine-protein kinase Fgr) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 2 more.","summary":"Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors devoid of kinase activity and contributes to the regulation of immune responses, including neutrophil, monocyte, macrophage and mast cell functions, cytoskeleton remodeling in response to extracellular stimuli, phagocytosis, cell adhesion and migration. Promotes mast cell degranulation, release of inflammatory cytokines and IgE-mediated anaphylaxis. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as MS4A2/FCER1B, FCGR2A and/or FCGR2B.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.79, animal model 0.49, genetic association 0.00, clinical 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3697","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3697"},{"label":"UniProt P09769","url":"https://www.uniprot.org/uniprotkb/P09769/entry"},{"label":"NCBI Gene 2268","url":"https://www.ncbi.nlm.nih.gov/gene/2268"},{"label":"Ensembl ENSG00000000938","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000000938"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","non-hodgkin-lymphoma","cml","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FGR","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3697","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3697","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09769","url":"https://www.uniprot.org/uniprotkb/P09769/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000000938","url":"https://platform.opentargets.org/target/ENSG00000000938/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.55, non-Hodgkin lymphoma 0.55, chronic myelogenous leukaemia, BCR-ABL1 positive 0.58, myeloproliferative neoplasm 0.60, leukaemia 0.61 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FGR: RNA group enriched (bone marrow 197 nTPM, lung 83 nTPM, lymphoid tissue 136 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (chronic myeloid leukemia, acute lymphoblastic leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FGR tissue","url":"https://www.proteinatlas.org/ENSG00000000938-FGR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000000938 associations","url":"https://platform.opentargets.org/target/ENSG00000000938/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3697","ensembl":"ENSG00000000938","uniprot":"P09769","entrez":"2268","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nishizawa et al, Mol. Cell. Biol, 1986, \"Structure, expression, and chromosomal location of the human c-fgr gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3023853/","biology":"Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors devoid of kinase activity and contributes to the regulation of immune responses, including neutrophil, monocyte, macrophage and mast cell functions, cytoskeleton remodeling in response to extracellular stimuli, phagocytosis, cell adhesion and migration. Promotes mast cell degranulation, release of inflammatory cytokines and IgE-mediated anaphylaxis. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as MS4A2/FCER1B, FCGR2A and/or FCGR2B. Acts downstream of ITGB1 and ITGB2, and regulates actin cytoskeleton reorganisation, cell spreading and adhesion. Depending on the context, activates or inhibits cellular responses. Functions as a negative regulator of ITGB2 signalling, phagocytosis and SYK activity in monocytes. Location: Cell membrane; Cell projection, ruffle membrane; Cytoplasm, cytosol; Cytoplasm, cytoskeleton (UniProt). Locus 1p35.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.60 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Chronic myeloid leukaemia: Open Targets association 0.58 with chronic myelogenous leukaemia, BCR-ABL1 positive (MONDO_0011996)","Acute lymphoblastic leukaemia: Open Targets association 0.55 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"kinase","prevalence":[]},{"id":"fh","kind":"target","name":"FH","aka":["fumarate hydratase","Fumarate hydratase, mitochondrial"],"tldr":"FH (Fumarate hydratase, mitochondrial) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Neuroendocrine tumours, Skin cancer, Papillary renal cell carcinoma and 1 more.","summary":"Catalyses the reversible stereospecific interconversion of fumarate to L-malate. Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other. Catalyses the hydration of fumarate to L-malate in the tricarboxylic acid (TCA) cycle to facilitate a transition step in the production of energy in the form of NADH.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Erlotinib and Bevacizumab. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.67, somatic mutation 0.95, genetic literature 0.85).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3700"},{"label":"UniProt P07954","url":"https://www.uniprot.org/uniprotkb/P07954/entry"},{"label":"NCBI Gene 2271","url":"https://www.ncbi.nlm.nih.gov/gene/2271"},{"label":"Ensembl ENSG00000091483","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000091483"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["neuroendocrine","skin-cancer","papillary-rcc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Hereditary Renal Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FH","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3700","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P07954","url":"https://www.uniprot.org/uniprotkb/P07954/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FH","url":"https://civicdb.org/features/1892","note":"2 evidence items, 0 assertions, 2 variants; diseases: Papillary Renal Cell Carcinoma, Hereditary Renal Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000091483","url":"https://platform.opentargets.org/target/ENSG00000091483/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: melanoma 0.51, neuroendocrine neoplasm 0.54, skin cancer 0.51 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"few-types","specificityNote":"Germline variant: UniProt lists [Isoform Cytoplasmic] under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA FH: RNA tissue enhanced (liver 253 nTPM); high antibody staining in 13 normal tissues; highest cancer staining colorectal cancer (11 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours, Skin cancer (all types), Renal cell carcinoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (hereditary leiomyomatosis and renal cell cancer, hereditary neoplastic syndrome). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P07954","url":"https://www.uniprot.org/uniprotkb/P07954/entry","note":"involvement in disease"},{"label":"Human Protein Atlas FH tissue","url":"https://www.proteinatlas.org/ENSG00000091483-FH/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000091483 associations","url":"https://platform.opentargets.org/target/ENSG00000091483/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3700","ensembl":"ENSG00000091483","uniprot":"P07954","entrez":"2271","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kinsella B.T. et al, Biosci. Rep, 1986, \"Nucleotide sequence of a cDNA coding for mitochondrial fumarase from human liver\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3828494/","biology":"Catalyses the reversible stereospecific interconversion of fumarate to L-malate. Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other. Catalyses the hydration of fumarate to L-malate in the tricarboxylic acid (TCA) cycle to facilitate a transition step in the production of energy in the form of NADH. Catalyses the dehydration of L-malate to fumarate. Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism; fumarate being a by-product of the urea cycle and amino-acid catabolism. Also plays a role in DNA repair by promoting non-homologous end-joining (NHEJ). Location: Mitochondrion; Cytoplasm, cytosol; Nucleus; Chromosome (UniProt). Locus 1q43 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.54 with neuroendocrine neoplasm (MONDO_0019496)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Papillary renal cell carcinoma: CIViC evidence names this disease","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)"],"targetClass":"enzyme","prevalence":[]},{"id":"fhit","kind":"target","name":"FHIT","aka":["fragile histidine triad diadenosine triphosphatase","Bis(5'-adenosyl)-triphosphatase","FRA3B","AP3Aase"],"tldr":"FHIT (Bis(5'-adenosyl)-triphosphatase) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Skin cancer and 1 more.","summary":"Possesses dinucleoside triphosphate hydrolase activity. Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyse P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.98, animal model 0.40, genetic association 0.71, somatic mutation 0.98). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3701","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3701"},{"label":"UniProt P49789","url":"https://www.uniprot.org/uniprotkb/P49789/entry"},{"label":"NCBI Gene 2272","url":"https://www.ncbi.nlm.nih.gov/gene/2272"},{"label":"Ensembl ENSG00000189283","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000189283"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","ovarian","skin-cancer","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FHIT","role":["oncogene-driver","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3701","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3701","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49789","url":"https://www.uniprot.org/uniprotkb/P49789/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FHIT","url":"https://civicdb.org/features/1893","note":"1 evidence items, 0 assertions, 2 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000189283","url":"https://platform.opentargets.org/target/ENSG00000189283/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: ovarian cancer 0.54, skin cancer 0.52, breast cancer 0.65 (GraphQL API, CC0)"},{"label":"IntOGen FHIT","url":"https://www.intogen.org/search?gene=FHIT","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FHIT: RNA tissue enriched (choroid plexus 607 nTPM); blood lineage lineage enriched (T-cells 88 nTPM); high antibody staining in 6 normal tissues; highest cancer staining thyroid cancer (3 of 4 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Skin cancer (all types), Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P49789","url":"https://www.uniprot.org/uniprotkb/P49789/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FHIT","url":"https://civicdb.org/features/1893","note":"1 evidence items, 0 assertions, 2 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen FHIT","url":"https://www.intogen.org/search?gene=FHIT","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FHIT tissue","url":"https://www.proteinatlas.org/ENSG00000189283-FHIT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000189283 associations","url":"https://platform.opentargets.org/target/ENSG00000189283/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3701","ensembl":"ENSG00000189283","uniprot":"P49789","entrez":"2272","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohta et al, Cell, 1996, \"The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8598045/","biology":"Possesses dinucleoside triphosphate hydrolase activity. Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. Can also hydrolyse P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activity with ATP. Exhibits adenylylsulfatase activity, hydrolysing adenosine 5'-phosphosulfate to yield AMP and sulfate. Exhibits adenosine 5'-monophosphoramidase activity, hydrolysing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2. Exhibits adenylylsulfate-ammonia adenylyltransferase, catalysing the ammonolysis of adenosine 5'-phosphosulfate resulting in the formation of adenosine 5'-phosphoramidate. Location: Cytoplasm; Mitochondrion; Nucleus (UniProt). Locus 3p14.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.54 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"oncogene","prevalence":[]},{"id":"fip1l1","kind":"target","name":"FIP1L1","aka":["factor interacting with PAPOLA and CPSF1","Pre-mRNA 3'-end-processing factor FIP1","DKFZp586K0717","FIP1","hFip1"],"tldr":"FIP1L1 (Pre-mRNA 3'-end-processing factor FIP1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognising the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.70, affected pathway 0.76, genetic association 0.09, somatic mutation 0.50).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19124","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19124"},{"label":"UniProt Q6UN15","url":"https://www.uniprot.org/uniprotkb/Q6UN15/entry"},{"label":"NCBI Gene 81608","url":"https://www.ncbi.nlm.nih.gov/gene/81608"},{"label":"Ensembl ENSG00000145216","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145216"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FIP1L1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:19124","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19124","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6UN15","url":"https://www.uniprot.org/uniprotkb/Q6UN15/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000145216","url":"https://platform.opentargets.org/target/ENSG00000145216/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:19124","ensembl":"ENSG00000145216","uniprot":"Q6UN15","entrez":"81608","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wiemann et al, Genome Res, 2001, \"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11230166/","biology":"Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognising the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex. Location: Nucleus (UniProt). Locus 4q12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fkbp12","kind":"target","name":"FKBP12 (FKBP1A)","aka":[],"tldr":"FKBP12 is the small protein that rapamycin-type drugs grab first; the drug-FKBP12 pair then clamps onto mTOR and switches off its growth signalling.","summary":"FK506-binding protein 1A (FKBP12) is a peptidyl-prolyl isomerase that acts as the intracellular receptor for rapamycin and its analogues. Everolimus and temsirolimus bind FKBP12, and the complex binds the FRB domain of mTOR, inhibiting mTORC1. The target is therefore listed for every rapalogue approved in kidney cancer, breast cancer, neuroendocrine tumours and tuberous sclerosis.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/FKBP1A","links":[{"label":"UniProt P62942: FKBP1A","url":"https://www.uniprot.org/uniprotkb/P62942/entry"},{"label":"HGNC:3711 FKBP1A","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3711"},{"label":"ChEMBL target CHEMBL1902","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL1902"}],"tags":[],"related":["mtor"],"cancers":["rcc","breast-hr-positive"],"sections":[],"technologies":[],"targets":[],"drugs":["everolimus","temsirolimus"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"FKBP1A","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Everolimus, Temsirolimus) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA FKBP1A: RNA low tissue specificity; blood lineage group enriched (dendritic cells 676 nTPM, granulocytes 976 nTPM, monocytes 1,017 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (2 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Breast cancer (all types)); Open Targets associates it with 7 specific cancer types at or above 0.5 (breast cancer, renal cell carcinoma, tuberous sclerosis, kidney angiomyolipoma, lymphangioleiomyomatosis, hamartoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FKBP1A tissue","url":"https://www.proteinatlas.org/ENSG00000088832-FKBP1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000088832 associations","url":"https://platform.opentargets.org/target/ENSG00000088832/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3711","ensembl":"ENSG00000088832","uniprot":"P62942","entrez":"2280","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Harding M.W. et al, Nature, 1989, \"A receptor for the immunosuppressant FK506 is a cis-trans peptidyl-prolyl isomerase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2477715/","biology":"An abundant cytosolic immunophilin that also regulates ryanodine and TGF-beta receptors; drug binding, not its own enzyme activity, is what matters for the mTOR effect.","whereFound":["Ubiquitous, cytosolic","Required for the action of everolimus, temsirolimus and sirolimus"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (rapamycin-binding protein); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"flcn","kind":"target","name":"FLCN","aka":["folliculin","Folliculin","MGC17998","MGC23445","DENND8B"],"tldr":"FLCN (Folliculin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Colorectal cancer, Gastric & gastro-oesophageal junction cancer and 3 more.","summary":"Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis. GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the non-canonical mTORC1 signalling cascade controlling the MiT/TFE factors TFEB and TFE3. Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RagC/RRAGC or RagD/RRAGD, promoting the conversion to the GDP-bound state of RagC/RRAGC or RagD/RRAGD, and thereby activating the kinase activity of mTORC1.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants, naming Everolimus and Sirolimus. Open Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes genetic literature 0.75, affected pathway 0.76, literature 0.67, genetic association 0.75, somatic mutation 0.87, animal model 0.62). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:27310","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27310"},{"label":"UniProt Q8NFG4","url":"https://www.uniprot.org/uniprotkb/Q8NFG4/entry"},{"label":"NCBI Gene 201163","url":"https://www.ncbi.nlm.nih.gov/gene/201163"},{"label":"Ensembl ENSG00000154803","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000154803"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["rcc","colorectal","gastric","skin-cancer","papillary-rcc","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Renal Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FLCN","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:27310","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27310","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NFG4","url":"https://www.uniprot.org/uniprotkb/Q8NFG4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FLCN","url":"https://civicdb.org/features/19959","note":"3 evidence items, 0 assertions, 3 variants; diseases: Renal Cell Carcinoma, Renal Carcinoma, Papillary Renal Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000154803","url":"https://platform.opentargets.org/target/ENSG00000154803/associations","note":"association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: colorectal cancer 0.73, gastric cancer 0.51, renal cell carcinoma 0.74, skin cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen FLCN","url":"https://www.intogen.org/search?gene=FLCN","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Birt-Hogg-Dube syndrome 1 (BHD1) under involvement in disease, and the record is a tumour suppressor; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA FLCN: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining liver cancer (1 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 7 specific cancer types at or above 0.5 (Birt-Hogg-Dubé syndrome, hereditary neoplastic syndrome, nonpapillary renal cell carcinoma, colorectal cancer, colon carcinoma, renal carcinoma and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q8NFG4","url":"https://www.uniprot.org/uniprotkb/Q8NFG4/entry","note":"involvement in disease"},{"label":"Human Protein Atlas FLCN tissue","url":"https://www.proteinatlas.org/ENSG00000154803-FLCN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000154803 associations","url":"https://platform.opentargets.org/target/ENSG00000154803/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:27310","ensembl":"ENSG00000154803","uniprot":"Q8NFG4","entrez":"201163","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nickerson M.L. et al, Cancer Cell, 2002, \"Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12204536/","biology":"Multi-functional protein, involved in both the cellular response to amino acid availability and in the regulation of glycolysis. GTPase-activating protein that plays a key role in the cellular response to amino acid availability through regulation of the non-canonical mTORC1 signalling cascade controlling the MiT/TFE factors TFEB and TFE3. Activates mTORC1 by acting as a GTPase-activating protein: specifically stimulates GTP hydrolysis by RagC/RRAGC or RagD/RRAGD, promoting the conversion to the GDP-bound state of RagC/RRAGC or RagD/RRAGD, and thereby activating the kinase activity of mTORC1. The GTPase-activating activity is inhibited during starvation and activated in presence of nutrients. Acts as a key component for non-canonical mTORC1-dependent control of the MiT/TFE factors TFEB and TFE3, while it is not involved in mTORC1-dependent phosphorylation of canonical RPS6KB1/S6K1 and EIF4EBP1/4E-BP1. In low-amino acid conditions, the lysosomal folliculin complex (LFC) is formed on the membrane of lysosomes, which inhibits the GTPase-activating activity of FLCN, inactivates mTORC1 and maximises nuclear translocation of TFEB and TFE3. Location: Lysosome membrane; Cytoplasm, cytosol; Cell projection, cilium; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 17p11.2 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.74 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease","Colorectal cancer: Open Targets association 0.73 with colorectal cancer (MONDO_0005575)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)","Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Papillary renal cell carcinoma: CIViC evidence names this disease","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"flg","kind":"target","name":"FLG","aka":["filaggrin","Filaggrin","FLG1","FLG-1"],"tldr":"FLG (Filaggrin) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer, Mesothelioma, Acute myeloid leukaemia and 2 more.","summary":"Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.91, animal model 0.57, genetic association 0.76, somatic mutation 0.17). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia, Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3748","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3748"},{"label":"UniProt P20930","url":"https://www.uniprot.org/uniprotkb/P20930/entry"},{"label":"NCBI Gene 2312","url":"https://www.ncbi.nlm.nih.gov/gene/2312"},{"label":"Ensembl ENSG00000143631","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143631"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","mesothelioma","aml","pleural-mesothelioma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FLG","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3748","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3748","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20930","url":"https://www.uniprot.org/uniprotkb/P20930/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143631","url":"https://platform.opentargets.org/target/ENSG00000143631/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: melanoma 0.55, skin cancer 0.63 (GraphQL API, CC0)"},{"label":"IntOGen FLG","url":"https://www.intogen.org/search?gene=FLG","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3748","ensembl":"ENSG00000143631","uniprot":"P20930","entrez":"2312","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McKinley-Grant L.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2740331/","biology":"Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis. Location: Cytoplasmic granule (UniProt). Locus 1q21.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.63 with skin cancer (MONDO_0002898)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"flt3","kind":"target","name":"FLT3","aka":[],"tldr":"FLT3 is a kinase mutated in about a third of acute myeloid leukaemias, where adding an inhibitor to chemotherapy improves survival.","summary":"FLT3 is a class III receptor tyrosine kinase, and internal tandem duplications (ITD) or tyrosine kinase domain (TKD) mutations activate it in roughly 25 to 30 percent of acute myeloid leukaemias, with ITD predicting shorter survival. Adding a FLT3 inhibitor to intensive chemotherapy improves survival: midostaurin, gilteritinib and quizartinib are approved, with quizartinib and midostaurin used in the front line and gilteritinib in relapsed disease. Combinations with venetoclax and with menin inhibitors are being tested to deepen and prolong responses. Resistance through emergent TKD mutations, clonal switching and the role of FLT3 inhibitors as maintenance after transplant remain open. For a newcomer: FLT3 is the AML kinase where a targeted pill added to chemotherapy has clearly extended lives.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD135","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD135"}],"tags":["driver","kinase"],"related":["flt3-itd","flt3-tkd"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":["men1703"],"companies":["cullinan-therapeutics"],"institutions":[],"pathways":["aml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"FLT3","role":[],"sources":[],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: 2 of 2 label readouts filed under it measure a sequence variant (FLT3-ITD (internal tandem duplication), FLT3-TKD (D835 and I836 tyrosine kinase domain mutations)) absent from normal cells. HPA FLT3: RNA tissue enhanced (bone marrow 5 nTPM, brain 9 nTPM, lymphoid tissue 6 nTPM); blood lineage lineage enriched (dendritic cells 69 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 11 specific cancer types at or above 0.5 (acute myeloid leukemia, hepatocellular carcinoma, gastrointestinal stromal tumor, renal cell carcinoma, myelofibrosis, acute lymphoblastic leukemia and more); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"FLT3-ITD (internal tandem duplication) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=29cdbcfe-497d-4e78-bb7b-2d4acafe8e86","note":"FLT3-ITD-positive"},{"label":"FLT3-TKD (D835 and I836 tyrosine kinase domain mutations) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=11fa3fc9-6776-49a6-b1c1-653f627c3e58","note":"FLT3 mutation-positive (includes TKD)"},{"label":"Human Protein Atlas FLT3 tissue","url":"https://www.proteinatlas.org/ENSG00000122025-FLT3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000122025 associations","url":"https://platform.opentargets.org/target/ENSG00000122025/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3765","ensembl":"ENSG00000122025","uniprot":"P36888","entrez":"2322","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rosnet et al, Genomics, 1991, \"Isolation and chromosomal localization of a novel FMS-like tyrosine kinase gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2004790/","biology":"Class III receptor tyrosine kinase; ITD predicts shorter survival.","whereFound":["Acute myeloid leukaemia"],"targetClass":"kinase","prevalence":[{"cancerId":"aml","pct":"25-30","measure":"FLT3-ITD or TKD","source":"https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018"}]},{"id":"flt3lg","kind":"target","name":"FLT3LG","aka":["fms related receptor tyrosine kinase 3 ligand","Fms-related tyrosine kinase 3 ligand"],"tldr":"FLT3LG (Fms-related tyrosine kinase 3 ligand) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Acute myeloid leukaemia.","summary":"Stimulates the proliferation of early haematopoietic cells by activating FLT3. Synergises well with a number of other colony stimulating factors and interleukins. Required for the development of B cells, and dendritic cells (DCs).\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Crenolanib, Ponatinib, Sunitinib and Lestaurtinib and others. Open Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.82, affected pathway 0.83, animal model 0.41, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3766","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3766"},{"label":"UniProt P49771","url":"https://www.uniprot.org/uniprotkb/P49771/entry"},{"label":"NCBI Gene 2323","url":"https://www.ncbi.nlm.nih.gov/gene/2323"},{"label":"Ensembl ENSG00000090554","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000090554"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 11 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FLT3LG","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3766","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3766","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49771","url":"https://www.uniprot.org/uniprotkb/P49771/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FLT3LG","url":"https://civicdb.org/features/1937","note":"2 evidence items, 0 assertions, 1 variants; diseases: Acute Myeloid Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000090554","url":"https://platform.opentargets.org/target/ENSG00000090554/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA FLT3LG: RNA low tissue specificity; blood lineage lineage enriched (T-cells 172 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FLT3LG tissue","url":"https://www.proteinatlas.org/ENSG00000090554-FLT3LG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000090554 associations","url":"https://platform.opentargets.org/target/ENSG00000090554/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3766","ensembl":"ENSG00000090554","uniprot":"P49771","entrez":"2323","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hannum et al, Nature, 1994, \"Ligand for FLT3/FLK2 receptor tyrosine kinase regulates growth of haematopoietic stem cells and is encoded by variant RNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8145851/","biology":"Stimulates the proliferation of early haematopoietic cells by activating FLT3. Synergises well with a number of other colony stimulating factors and interleukins. Required for the development of B cells, and dendritic cells (DCs). Location: Cell membrane; Secreted (UniProt). Locus 19q13.33 (HGNC).","whereFound":["Acute myeloid leukaemia: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fmn1","kind":"target","name":"FMN1","aka":["formin 1","Formin-1","DKFZP686C2281","FLJ45135","MGC125288","MGC125289"],"tldr":"FMN1 (Formin-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays a role in the formation of adherens junction and the polymerisation of linear actin cables.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.42, animal model 0.65, genetic association 0.81).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3768"},{"label":"UniProt Q68DA7","url":"https://www.uniprot.org/uniprotkb/Q68DA7/entry"},{"label":"NCBI Gene 342184","url":"https://www.ncbi.nlm.nih.gov/gene/342184"},{"label":"Ensembl ENSG00000248905","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000248905"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FMN1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3768","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q68DA7","url":"https://www.uniprot.org/uniprotkb/Q68DA7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000248905","url":"https://platform.opentargets.org/target/ENSG00000248905/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3768","ensembl":"ENSG00000248905","uniprot":"Q68DA7","entrez":"342184","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Plays a role in the formation of adherens junction and the polymerisation of linear actin cables. Location: Nucleus; Cytoplasm; Cell junction, adherens junction; Cell membrane (UniProt). Locus 15q13.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fmn2","kind":"target","name":"FMN2","aka":["formin 2","Formin-2"],"tldr":"FMN2 (Formin-2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma.","summary":"Actin-binding protein that is involved in actin cytoskeleton assembly and reorganisation. Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2. Involved in intracellular vesicle transport along actin fibres, providing a novel link between actin cytoskeleton dynamics and intracellular transport.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.72, genetic association 0.57, somatic mutation 0.52). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14074","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14074"},{"label":"UniProt Q9NZ56","url":"https://www.uniprot.org/uniprotkb/Q9NZ56/entry"},{"label":"NCBI Gene 56776","url":"https://www.ncbi.nlm.nih.gov/gene/56776"},{"label":"Ensembl ENSG00000155816","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000155816"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt keyword \"DNA damage\". Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FMN2","role":["tumour-suppressor","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14074","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14074","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZ56","url":"https://www.uniprot.org/uniprotkb/Q9NZ56/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000155816","url":"https://platform.opentargets.org/target/ENSG00000155816/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"},{"label":"IntOGen FMN2","url":"https://www.intogen.org/search?gene=FMN2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14074","ensembl":"ENSG00000155816","uniprot":"Q9NZ56","entrez":"56776","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Leader et al, Mech. Dev, 2000, \"Formin-2, a novel formin homology protein of the cappuccino subfamily, is highly expressed in the developing and adult central nervous system\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10781961/","biology":"Actin-binding protein that is involved in actin cytoskeleton assembly and reorganisation. Acts as an actin nucleation factor and promotes assembly of actin filaments together with SPIRE1 and SPIRE2. Involved in intracellular vesicle transport along actin fibres, providing a novel link between actin cytoskeleton dynamics and intracellular transport. Required for asymmetric spindle positioning, asymmetric oocyte division and polar body extrusion during female germ cell meiosis. Plays a role in responses to DNA damage, cellular stress and hypoxia by protecting CDKN1A against degradation, and thereby plays a role in stress-induced cell cycle arrest. Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage. Location: Cytoplasm, cytoskeleton; Cytoplasm, cytosol; Cytoplasm, perinuclear region; Nucleus (UniProt). Locus 1q43 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fn1","kind":"target","name":"FN1","aka":["fibronectin 1","Fibronectin","GFND2","lnc-ABCA12-8"],"tldr":"FN1 (Fibronectin) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin. Fibronectins are involved in cell adhesion, cell motility, opsonisation, wound healing, and maintenance of cell shape. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralisation.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming L19IL2, Dacarbazine and Daromun. Open Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 1.00, affected pathway 0.98, genetic association 0.03, clinical 0.19).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3778","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3778"},{"label":"UniProt P02751","url":"https://www.uniprot.org/uniprotkb/P02751/entry"},{"label":"NCBI Gene 2335","url":"https://www.ncbi.nlm.nih.gov/gene/2335"},{"label":"Ensembl ENSG00000115414","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115414"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.19; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FN1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3778","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3778","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02751","url":"https://www.uniprot.org/uniprotkb/P02751/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FN1","url":"https://civicdb.org/features/1947","note":"3 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000115414","url":"https://platform.opentargets.org/target/ENSG00000115414/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FN1: RNA tissue enhanced (blood vessel 2,746 nTPM, liver 1,614 nTPM, placenta 2,752 nTPM); high antibody staining in 4 normal tissues; highest cancer staining pancreatic cancer (3 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FN1 tissue","url":"https://www.proteinatlas.org/ENSG00000115414-FN1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115414 associations","url":"https://platform.opentargets.org/target/ENSG00000115414/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3778","ensembl":"ENSG00000115414","uniprot":"P02751","entrez":"2335","firstDescribed":1982,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pierschbacher M.D. et al, J. Biol. Chem, 1982, \"The cell attachment domain of fibronectin. Determination of the primary structure\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7050098/","biology":"Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin. Fibronectins are involved in cell adhesion, cell motility, opsonisation, wound healing, and maintenance of cell shape. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralisation. Participates in the regulation of type I collagen deposition by osteoblasts. Acts as a ligand for the LILRB4 receptor, inhibiting FCGR1A/CD64-mediated monocyte activation. Binds fibronectin and induces fibril formation. Location: Secreted, extracellular space, extracellular matrix; Secreted (UniProt). Locus 2q35 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fndc3b","kind":"target","name":"FNDC3B","aka":["fibronectin type III domain containing 3B","Fibronectin type III domain-containing protein 3B","FAD104","DKFZp762K137","FLJ23399","PRO4979","YVTM2421"],"tldr":"FNDC3B (Fibronectin type III domain-containing protein 3B) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-Hodgkin lymphoma.","summary":"May be a positive regulator of adipogenesis.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lymphoid Neoplasm.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24670","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24670"},{"label":"UniProt Q53EP0","url":"https://www.uniprot.org/uniprotkb/Q53EP0/entry"},{"label":"NCBI Gene 64778","url":"https://www.ncbi.nlm.nih.gov/gene/64778"},{"label":"Ensembl ENSG00000075420","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000075420"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FNDC3B","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24670","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24670","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q53EP0","url":"https://www.uniprot.org/uniprotkb/Q53EP0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FNDC3B","url":"https://www.intogen.org/search?gene=FNDC3B","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:24670","ensembl":"ENSG00000075420","uniprot":"Q53EP0","entrez":"64778","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang et al, 2002.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q53EP0/entry","biology":"May be a positive regulator of adipogenesis. Location: Membrane (UniProt). Locus 3q26.31 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (LNM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"fntb","kind":"target","name":"FNTB","aka":["farnesyltransferase, CAAX box, subunit beta","Protein farnesyltransferase subunit beta"],"tldr":"FNTB (Protein farnesyltransferase subunit beta) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer.","summary":"Essential subunit of the farnesyltransferase complex. Catalyses the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Lonafarnib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3785"},{"label":"UniProt P49356","url":"https://www.uniprot.org/uniprotkb/P49356/entry"},{"label":"NCBI Gene 2342","url":"https://www.ncbi.nlm.nih.gov/gene/2342"},{"label":"Ensembl ENSG00000257365","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000257365"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FNTB","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3785","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49356","url":"https://www.uniprot.org/uniprotkb/P49356/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FNTB","url":"https://civicdb.org/features/1950","note":"1 evidence items, 0 assertions, 1 variants; diseases: Ovarian Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists FNTB among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA FNTB: RNA tissue enriched (brain 136 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FNTB tissue","url":"https://www.proteinatlas.org/ENSG00000257365-FNTB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000257365 associations","url":"https://platform.opentargets.org/target/ENSG00000257365/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3785","ensembl":"ENSG00000257365","uniprot":"P49356","entrez":"2342","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Omer C.A. et al, Biochemistry, 1993, \"Characterization of recombinant human farnesyl-protein transferase: cloning, expression, farnesyl diphosphate binding, and functional homology with yeast prenyl-protein transferases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8494894/","biology":"Essential subunit of the farnesyltransferase complex. Catalyses the transfer of a farnesyl moiety from farnesyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. Locus 14q23.3 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"folr1","kind":"target","name":"Folate receptor alpha","aka":[],"tldr":"Folate receptor alpha is a vitamin receptor that ovarian cancer cells carry in large numbers, used as the docking site for the ADC mirvetuximab.","summary":"FRα is overexpressed in high-grade serous ovarian cancer, endometrial cancer, and lung adenocarcinoma. Mirvetuximab soravtansine (Elahere) is approved in FRα-high platinum-resistant ovarian cancer (MIRASOL). Next-generation FRα ADCs with topoisomerase-I payloads (ZW191, luveltamab tazevibulin, rinatabart sesutecan) target lower-expressing tumours.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Folate_receptor_1","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Folate_receptor_1"}],"tags":["adc-target"],"related":["folr1-expression"],"cancers":["ovarian","endometrial","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["pafolacianine","sofetabart-mipitecan","chiauranib","farletuzumab-exatecan"],"companies":["profoundbio"],"institutions":[],"pathways":[],"terms":[],"trials":["nct07480954"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"FOLR1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression or amplification: 1 of 1 label readouts filed under it score protein level or gene copies (Folate receptor alpha expression (FRα-positive, PS2+ >= 75%)), so the medicines rely on the tumour carrying more of it than normal tissue. HPA FOLR1: RNA tissue enriched (choroid plexus 2,861 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Endometrial cancer, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (ovarian cancer). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Folate receptor alpha expression (FRα-positive, PS2+ >= 75%) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=00c424b5-6ccd-48ab-9e88-1986451120e2","note":"FRα-positive (PS2+ >= 75% on the Ventana FOLR1 assay)"},{"label":"Human Protein Atlas FOLR1 tissue","url":"https://www.proteinatlas.org/ENSG00000110195-FOLR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas FOLR1 pathology","url":"https://www.proteinatlas.org/ENSG00000110195-FOLR1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000110195 associations","url":"https://platform.opentargets.org/target/ENSG00000110195/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3791","ensembl":"ENSG00000110195","uniprot":"P15328","entrez":"2348","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Luhrs C.A. et al, Proc. Natl. Acad. Sci. U.S.A, 1987, \"Purified membrane and soluble folate binding proteins from cultured KB cells have similar amino acid compositions and molecular weights but differ in fatty acid acylation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3476960/","biology":"GPI-anchored folate transporter; limited to apical surfaces in normal kidney, lung, and choroid plexus.","whereFound":["High-grade serous ovarian (~80% any expression)","Endometrial","NSCLC adenocarcinoma","TNBC (subset)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"ovarian","pct":"35-40","measure":"FRα-high (PS2+ in >=75% of cells)","source":"https://en.wikipedia.org/wiki/Folate_receptor_1","note":"MIRASOL eligibility; ~80% any expression"},{"cancerId":"endometrial","pct":"60-80","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/Folate_receptor_1"},{"cancerId":"nsclc","pct":"70-80","measure":"Adenocarcinoma, any expression","source":"https://en.wikipedia.org/wiki/Folate_receptor_1"}]},{"id":"fos","kind":"target","name":"FOS","aka":["Fos proto-oncogene, AP-1 transcription factor subunit","c-fos","AP-1"],"tldr":"FOS (Fos proto-oncogene, AP-1 transcription factor subunit) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Nuclear phosphoprotein which forms a tight but non-covalently linked complex with the JUN/AP-1 transcription factor. In the heterodimer, FOS and JUN/AP-1 basic regions each seems to interact with symmetrical DNA half sites. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD-binding site to regulate TGF-beta-mediated signalling.\n\nCIViC holds 3 clinical evidence items and 1 assertion across 2 variants, naming Irbesartan.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3796","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3796"},{"label":"UniProt P01100","url":"https://www.uniprot.org/uniprotkb/P01100/entry"},{"label":"NCBI Gene 2353","url":"https://www.ncbi.nlm.nih.gov/gene/2353"},{"label":"Ensembl ENSG00000170345","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170345"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Osteoblastoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOS","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3796","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3796","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01100","url":"https://www.uniprot.org/uniprotkb/P01100/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOS","url":"https://civicdb.org/features/1955","note":"3 evidence items, 1 assertions, 2 variants; diseases: Osteoblastoma, Colon Adenocarcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA FOS: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 507 nTPM); high antibody staining in 11 normal tissues; highest cancer staining head and neck cancer (2 of 3 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FOS tissue","url":"https://www.proteinatlas.org/ENSG00000170345-FOS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000170345 associations","url":"https://platform.opentargets.org/target/ENSG00000170345/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3796","ensembl":"ENSG00000170345","uniprot":"P01100","entrez":"2353","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: van Straaten et al, Proc. Natl. Acad. Sci. U.S.A, 1983, \"Complete nucleotide sequence of a human c-onc gene: deduced amino acid sequence of the human c-fos protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6574479/","biology":"Nuclear phosphoprotein which forms a tight but non-covalently linked complex with the JUN/AP-1 transcription factor. In the heterodimer, FOS and JUN/AP-1 basic regions each seems to interact with symmetrical DNA half sites. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex at the AP1/SMAD-binding site to regulate TGF-beta-mediated signalling. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and differentiation. In growing cells, activates phospholipid synthesis, possibly by activating CDS1 and PI4K2A. Location: Nucleus; Endoplasmic reticulum; Cytoplasm, cytosol (UniProt). Locus 14q24.3 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"fosb","kind":"target","name":"FOSB","aka":["FosB proto-oncogene, AP-1 transcription factor subunit","G0S3","GOS3","AP-1","MGC42291","DKFZp686C0818"],"tldr":"FOSB (FosB proto-oncogene, AP-1 transcription factor subunit) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Heterodimerises with proteins of the JUN family to form an AP-1 transcription factor complex, thereby enhancing their DNA binding activity to gene promoters containing an AP-1 consensus sequence 5'-TGA[GC]TCA-3' and enhancing their transcriptional activity. As part of the AP-1 complex, facilitates enhancer selection together with cell-type-specific transcription factors by collaboratively binding to nucleosomal enhancers and recruiting the SWI/SNF (BAF) chromatin remodeling complex to establish accessible chromatin. Together with JUN, plays a role in activation-induced cell death of T cells by binding to the AP-1 promoter site of FASLG/CD95L, and inducing its transcription in response to activation of the TCR/CD3 signalling pathway.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3797","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3797"},{"label":"UniProt P53539","url":"https://www.uniprot.org/uniprotkb/P53539/entry"},{"label":"NCBI Gene 2354","url":"https://www.ncbi.nlm.nih.gov/gene/2354"},{"label":"Ensembl ENSG00000125740","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125740"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Osteoblastoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOSB","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3797","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3797","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P53539","url":"https://www.uniprot.org/uniprotkb/P53539/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOSB","url":"https://civicdb.org/features/1956","note":"1 evidence items, 0 assertions, 1 variants; diseases: Osteoblastoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA FOSB: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining melanoma (1 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FOSB tissue","url":"https://www.proteinatlas.org/ENSG00000125740-FOSB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000125740 associations","url":"https://platform.opentargets.org/target/ENSG00000125740/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3797","ensembl":"ENSG00000125740","uniprot":"P53539","entrez":"2354","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Martin-Gallardo et al, Nat. Genet, 1992, \"Automated DNA sequencing and analysis of 106 kilobases from human chromosome 19q13.3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1301997/","biology":"Heterodimerises with proteins of the JUN family to form an AP-1 transcription factor complex, thereby enhancing their DNA binding activity to gene promoters containing an AP-1 consensus sequence 5'-TGA[GC]TCA-3' and enhancing their transcriptional activity. As part of the AP-1 complex, facilitates enhancer selection together with cell-type-specific transcription factors by collaboratively binding to nucleosomal enhancers and recruiting the SWI/SNF (BAF) chromatin remodeling complex to establish accessible chromatin. Together with JUN, plays a role in activation-induced cell death of T cells by binding to the AP-1 promoter site of FASLG/CD95L, and inducing its transcription in response to activation of the TCR/CD3 signalling pathway. Exhibits transactivation activity in vitro. Involved in the display of nurturing behaviour towards newborns. May play a role in neurogenesis in the hippocampus and in learning and memory-related tasks by regulating the expression of various genes involved in neurogenesis, depression and epilepsy. Location: Nucleus (UniProt). Locus 19q13.32 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"foxa1","kind":"target","name":"FOXA1","aka":["forkhead box A1","Hepatocyte nuclear factor 3-alpha","HNF3A"],"tldr":"FOXA1 (Hepatocyte nuclear factor 3-alpha) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer, Breast cancer, Neuroendocrine tumours and 1 more.","summary":"Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3'.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Aromatase Inhibitor. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes affected pathway 0.57, literature 1.00, genetic association 0.26, somatic mutation 0.97, animal model 0.30). IntOGen calls it a driver in 15 cohorts (11 activating, 4 loss-of-function), covering Invasive Breast Carcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5021","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5021"},{"label":"UniProt P55317","url":"https://www.uniprot.org/uniprotkb/P55317/entry"},{"label":"NCBI Gene 3169","url":"https://www.ncbi.nlm.nih.gov/gene/3169"},{"label":"Ensembl ENSG00000129514","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129514"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["prostate","breast-cancer","neuroendocrine","breast-hr-positive"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["er-signaling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-grasso-mutational-landscape-lethal-crpc-nature-2012","paper-tcga-molecular-taxonomy-primary-prostate-cell-2015"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 11 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXA1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5021","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5021","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55317","url":"https://www.uniprot.org/uniprotkb/P55317/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXA1","url":"https://civicdb.org/features/2662","note":"1 evidence items, 0 assertions, 1 variants; diseases: Oestrogen Receptor-positive Breast Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000129514","url":"https://platform.opentargets.org/target/ENSG00000129514/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: prostate cancer 0.73, neuroendocrine neoplasm 0.51, breast cancer 0.72 (GraphQL API, CC0)"},{"label":"IntOGen FOXA1","url":"https://www.intogen.org/search?gene=FOXA1","note":"driver in 15 cohorts (Act 11, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FOXA1: RNA tissue enhanced (prostate 70 nTPM); high antibody staining in 1 normal tissue; highest cancer staining breast cancer (10 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Breast cancer (all types), Neuroendocrine tumours); Open Targets associates it with 2 specific cancer types at or above 0.5 (prostate adenocarcinoma, breast adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P55317","url":"https://www.uniprot.org/uniprotkb/P55317/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXA1","url":"https://civicdb.org/features/2662","note":"1 evidence items, 0 assertions, 1 variants; diseases: Oestrogen Receptor-positive Breast Cancer (GraphQL API, CC0)"},{"label":"IntOGen FOXA1","url":"https://www.intogen.org/search?gene=FOXA1","note":"driver in 15 cohorts (Act 11, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FOXA1 tissue","url":"https://www.proteinatlas.org/ENSG00000129514-FOXA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000129514 associations","url":"https://platform.opentargets.org/target/ENSG00000129514/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5021","ensembl":"ENSG00000129514","uniprot":"P55317","entrez":"3169","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bingle C.D. et al, Biochim. Biophys. Acta, 1996, \"Molecular cloning of the forkhead transcription factor HNF-3 alpha from a human pulmonary adenocarcinoma cell line\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8652662/","biology":"Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3'. Proposed to play a role in translating the epigenetic signatures into cell type-specific enhancer-driven transcriptional programs. Its differential recruitment to chromatin is dependent on distribution of histone H3 methylated at 'Lys-5' (H3K4me2) in oestrogen-regulated genes. Involved in the development of multiple endoderm-derived organ systems such as liver, pancreas, lung and prostate; FOXA1 and FOXA2 seem to have at least in part redundant roles. Location: Nucleus (UniProt). Locus 14q21.1 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.73 with prostate cancer (MONDO_0008315); IntOGen driver in 11 cohorts (PRAD)","Breast cancer: Open Targets association 0.72 with breast cancer (MONDO_0007254); IntOGen driver in 4 cohorts (BRCA)","Neuroendocrine tumours: Open Targets association 0.51 with neuroendocrine neoplasm (MONDO_0019496)","HR-positive / HER2-negative breast cancer: CIViC evidence names this disease","Prostate cancer: mutation clustered in the forkhead domain, plus amplification 2-16% depending on disease state"],"targetClass":"transcription","prevalence":[{"cancerId":"prostate","pct":"2-16","measure":"Mutation clustered in the forkhead domain, plus amplification","source":"https://www.cbioportal.org/study/summary?id=prostate_msk_2024","note":"cBioPortal mutation: 351 of 2,260, 15.5%, in prostate_msk_2024; 273 of 2,069, 13.2%, in prad_msk_stopsack_2021; 179 of 1,465, 12.2%, in prad_cdk12_mskcc_2020; 58 of 504, 11.5%, in prad_mskcc_2017; 50 of 424, 11.8%, in prad_mcspc_mskcc_2020; 69 of 1,013, 6.8%, in prad_p1000; 41 of 444, 9.2%, in prad_su2c_2019; 28 of 494, 5.7%, in prad_tcga_pan_can_atlas_2018; 11 of 477, 2.3%, in prad_cpcg_2017. Amplification adds 54 of 2,260 (2.4%) in prostate_msk_2024 and 21 of 149 (14.1%) in prad_fhcrc. It was first described as recurrent in 5 of 147 prostate cancers, 3.4%, across untreated and castration-resistant disease, where the mutant protein repressed androgen signalling and increased tumour growth (Grasso 2012)."}]},{"id":"foxa2","kind":"target","name":"FOXA2","aka":["forkhead box A2","Hepatocyte nuclear factor 3-beta","HNF3B"],"tldr":"FOXA2 (Hepatocyte nuclear factor 3-beta) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Endometrial cancer.","summary":"Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3'.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5022","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5022"},{"label":"UniProt Q9Y261","url":"https://www.uniprot.org/uniprotkb/Q9Y261/entry"},{"label":"NCBI Gene 3170","url":"https://www.ncbi.nlm.nih.gov/gene/3170"},{"label":"Ensembl ENSG00000125798","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125798"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXA2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:5022","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5022","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y261","url":"https://www.uniprot.org/uniprotkb/Q9Y261/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen FOXA2","url":"https://www.intogen.org/search?gene=FOXA2","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:5022","ensembl":"ENSG00000125798","uniprot":"Q9Y261","entrez":"3170","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hinokio et al, 1999, \"No evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3 beta gene in Japanese patients with MODY\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9Y261/entry","biology":"Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a 'pioneer' factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3'. In embryonic development is required for notochord formation. Involved in the development of multiple endoderm-derived organ systems such as the liver, pancreas and lungs; FOXA1 and FOXA2 seem to have at least in part redundant roles. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Location: Nucleus; Cytoplasm (UniProt). Locus 20p11.21 (HGNC).","whereFound":["Endometrial cancer: IntOGen driver in 2 cohorts (UCEC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"foxc2","kind":"target","name":"FOXC2","aka":["forkhead box C2","Forkhead box protein C2","MFH-1","FKHL14"],"tldr":"FOXC2 (Forkhead box protein C2) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Transcriptional activator.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Oxaliplatin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3801","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3801"},{"label":"UniProt Q99958","url":"https://www.uniprot.org/uniprotkb/Q99958/entry"},{"label":"NCBI Gene 2303","url":"https://www.ncbi.nlm.nih.gov/gene/2303"},{"label":"Ensembl ENSG00000176692","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000176692"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXC2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3801","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3801","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99958","url":"https://www.uniprot.org/uniprotkb/Q99958/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXC2","url":"https://civicdb.org/features/1920","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FOXC2: RNA tissue enriched (blood vessel 37 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FOXC2 tissue","url":"https://www.proteinatlas.org/ENSG00000176692-FOXC2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000176692 associations","url":"https://platform.opentargets.org/target/ENSG00000176692/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3801","ensembl":"ENSG00000176692","uniprot":"Q99958","entrez":"2303","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miura et al, Genomics, 1997, \"Isolation of the mouse (MFH-1) and human (FKHL 14) mesenchyme fork head-1 genes reveals conservation of their gene and protein structures\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9169153/","biology":"Transcriptional activator. Location: Nucleus (UniProt). Locus 16q24.1 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"foxe1","kind":"target","name":"FOXE1","aka":["forkhead box E1","Forkhead box protein E1","TTF-2","HFKH4","FKHL15","TITF2","FOXE2"],"tldr":"FOXE1 (Forkhead box protein E1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Thyroid cancer.","summary":"Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.96, animal model 0.91, genetic association 0.71, genetic literature 0.57).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3806"},{"label":"UniProt O00358","url":"https://www.uniprot.org/uniprotkb/O00358/entry"},{"label":"NCBI Gene 2304","url":"https://www.ncbi.nlm.nih.gov/gene/2304"},{"label":"Ensembl ENSG00000178919","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178919"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXE1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:3806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3806","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00358","url":"https://www.uniprot.org/uniprotkb/O00358/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000178919","url":"https://platform.opentargets.org/target/ENSG00000178919/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: thyroid cancer 0.64 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:3806","ensembl":"ENSG00000178919","uniprot":"O00358","entrez":"2304","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wiese et al, DNA Cell Biol, 1997, \"The novel human HNF-3/fork head-like 5 gene: chromosomal localization and expression pattern\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9052737/","biology":"Transcription factor that binds consensus sites on a variety of gene promoters and activate their transcription. Involved in proper palate formation, most probably through the expression of MSX1 and TGFB3 genes which are direct targets of this transcription factor. Also implicated in thyroid gland morphogenesis. May indirectly play a role in cell growth and migration through the regulation of WNT5A expression. Location: Nucleus (UniProt). Locus 9q22.33 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.64 with thyroid cancer (MONDO_0002108)"],"targetClass":"transcription","prevalence":[]},{"id":"foxf1","kind":"target","name":"FOXF1","aka":["forkhead box F1","Forkhead box protein F1","FREAC1","FKHL5"],"tldr":"FOXF1 (Forkhead box protein F1) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Probable transcription activator for a number of lung-specific genes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Bevacizumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3809","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3809"},{"label":"UniProt Q12946","url":"https://www.uniprot.org/uniprotkb/Q12946/entry"},{"label":"NCBI Gene 2294","url":"https://www.ncbi.nlm.nih.gov/gene/2294"},{"label":"Ensembl ENSG00000103241","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103241"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXF1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3809","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3809","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12946","url":"https://www.uniprot.org/uniprotkb/Q12946/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXF1","url":"https://civicdb.org/features/1911","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FOXF1: RNA tissue enhanced (intestine 58 nTPM, urinary bladder 48 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FOXF1 tissue","url":"https://www.proteinatlas.org/ENSG00000103241-FOXF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000103241 associations","url":"https://platform.opentargets.org/target/ENSG00000103241/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3809","ensembl":"ENSG00000103241","uniprot":"Q12946","entrez":"2294","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pierrou et al, EMBO J, 1994, \"Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7957066/","biology":"Probable transcription activator for a number of lung-specific genes. Location: Nucleus (UniProt). Locus 16q24.1 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"foxl2","kind":"target","name":"FOXL2","aka":["forkhead box L2","Forkhead box protein L2","BPES1"],"tldr":"FOXL2 (Forkhead box protein L2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer.","summary":"Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 1 variant. IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Ovarian Epithelial Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1092","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1092"},{"label":"UniProt P58012","url":"https://www.uniprot.org/uniprotkb/P58012/entry"},{"label":"NCBI Gene 668","url":"https://www.ncbi.nlm.nih.gov/gene/668"},{"label":"Ensembl ENSG00000183770","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183770"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Granulosa Cell Tumour; Ovarian Sex-cord Stromal Tumour; Adult-type Granulosa Cell Tumour Of The Ovary."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXL2","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1092","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1092","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P58012","url":"https://www.uniprot.org/uniprotkb/P58012/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXL2","url":"https://civicdb.org/features/72","note":"4 evidence items, 0 assertions, 1 variants; diseases: Granulosa Cell Tumour, Ovarian Sex-cord Stromal Tumour, Adult-type Granulosa Cell Tumour Of The Ovary (GraphQL API, CC0)"},{"label":"IntOGen FOXL2","url":"https://www.intogen.org/search?gene=FOXL2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FOXL2: RNA tissue enhanced (cervix 14 nTPM, fallopian tube 13 nTPM, ovary 43 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P58012","url":"https://www.uniprot.org/uniprotkb/P58012/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXL2","url":"https://civicdb.org/features/72","note":"4 evidence items, 0 assertions, 1 variants; diseases: Granulosa Cell Tumour, Ovarian Sex-cord Stromal Tumour, Adult-type Granulosa Cell Tumour Of The Ovary (GraphQL API, CC0)"},{"label":"IntOGen FOXL2","url":"https://www.intogen.org/search?gene=FOXL2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FOXL2 tissue","url":"https://www.proteinatlas.org/ENSG00000183770-FOXL2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183770 associations","url":"https://platform.opentargets.org/target/ENSG00000183770/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1092","ensembl":"ENSG00000183770","uniprot":"P58012","entrez":"668","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Crisponi et al, Nat. Genet, 2001, \"The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11175783/","biology":"Transcriptional regulator. Critical factor essential for ovary differentiation and maintenance, and repression of the genetic program for somatic testis determination. Prevents trans-differentiation of ovary to testis through transcriptional repression of the Sertoli cell-promoting gene SOX9. Has apoptotic activity in ovarian cells. Suppresses ESR1-mediated transcription of PTGS2/COX2 stimulated by tamoxifen. Is a regulator of CYP19 expression. Location: Nucleus (UniProt). Locus 3q22.3 (HGNC).","whereFound":["Ovarian cancer: IntOGen driver in 1 cohort (OVT)"],"targetClass":"oncogene","prevalence":[]},{"id":"foxo1","kind":"target","name":"FOXO1","aka":["forkhead box O1","Forkhead box protein O1","FKH1","FOXO1A"],"tldr":"FOXO1 (Forkhead box protein O1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas, Non-Hodgkin lymphoma, Ovarian cancer and 4 more.","summary":"Transcription factor that is the main target of insulin signalling and regulates metabolic homeostasis in response to oxidative stress. Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3'. Activity suppressed by insulin.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.26, literature 0.99, genetic association 0.38, somatic mutation 0.83). IntOGen calls it a driver in 6 cohorts (5 activating, 1 loss-of-function), covering Burkitt Lymphoma, Lung Squamous Cell Carcinoma, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3819","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3819"},{"label":"UniProt Q12778","url":"https://www.uniprot.org/uniprotkb/Q12778/entry"},{"label":"NCBI Gene 2308","url":"https://www.ncbi.nlm.nih.gov/gene/2308"},{"label":"Ensembl ENSG00000150907","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000150907"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["sarcoma","non-hodgkin-lymphoma","ovarian","rhabdomyosarcoma","dlbcl","burkitt-lymphoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXO1","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3819","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3819","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12778","url":"https://www.uniprot.org/uniprotkb/Q12778/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXO1","url":"https://civicdb.org/features/1925","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000150907","url":"https://platform.opentargets.org/target/ENSG00000150907/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: ovarian cancer 0.50, sarcoma 0.65, non-Hodgkin lymphoma 0.58, rhabdomyosarcoma 0.62 (GraphQL API, CC0)"},{"label":"IntOGen FOXO1","url":"https://www.intogen.org/search?gene=FOXO1","note":"driver in 6 cohorts (Act 5, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FOXO1: RNA tissue enhanced (skeletal muscle 84 nTPM); high antibody staining in 9 normal tissues; highest cancer staining lymphoma (7 of 12 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Lymphoma, Ovarian cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q12778","url":"https://www.uniprot.org/uniprotkb/Q12778/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXO1","url":"https://civicdb.org/features/1925","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen FOXO1","url":"https://www.intogen.org/search?gene=FOXO1","note":"driver in 6 cohorts (Act 5, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FOXO1 tissue","url":"https://www.proteinatlas.org/ENSG00000150907-FOXO1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000150907 associations","url":"https://platform.opentargets.org/target/ENSG00000150907/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3819","ensembl":"ENSG00000150907","uniprot":"Q12778","entrez":"2308","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Galili et al, Nat. Genet, 1993, \"Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8275086/","biology":"Transcription factor that is the main target of insulin signalling and regulates metabolic homeostasis in response to oxidative stress. Binds to the insulin response element (IRE) with consensus sequence 5'-TT[G/A]TTTTG-3' and the related Daf-16 family binding element (DBE) with consensus sequence 5'-TT[G/A]TTTAC-3'. Activity suppressed by insulin. Main regulator of redox balance and osteoblast numbers and controls bone mass. Orchestrates the endocrine function of the skeleton in regulating glucose metabolism. Also acts as a key regulator of chondrogenic commitment of skeletal progenitor cells in response to lipid availability: when lipids levels are low, translocates to the nucleus and promotes expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation. Location: Cytoplasm; Nucleus (UniProt). Locus 13q14.11 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.65 with sarcoma (MONDO_0005089)","Non-Hodgkin lymphoma: Open Targets association 0.58 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 3 cohorts (MLYM, NHL)","Ovarian cancer: Open Targets association 0.50 with ovarian cancer (MONDO_0008170)","Rhabdomyosarcoma: Open Targets association 0.62 with rhabdomyosarcoma (MONDO_0005212)","Diffuse large B-cell lymphoma: CIViC evidence names this disease","Burkitt lymphoma: CIViC evidence names this disease; IntOGen driver in 2 cohorts (BL)"],"targetClass":"transcription","prevalence":[]},{"id":"foxo3","kind":"target","name":"FOXO3","aka":["forkhead box O3","Forkhead box protein O3","AF6q21","FOXO2","FKHRL1","FOXO3A"],"tldr":"FOXO3 (Forkhead box protein O3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Skin cancer, Acute myeloid leukaemia and 1 more.","summary":"Transcriptional activator that recognises and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3' and regulates different processes, such as apoptosis and autophagy. Acts as a positive regulator of autophagy in skeletal muscle: in starved cells, enters the nucleus following dephosphorylation and binds the promoters of autophagy genes, such as GABARAP1L, MAP1LC3B and ATG12, thereby activating their expression, resulting in proteolysis of skeletal muscle proteins. Triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 1.00, animal model 0.41, genetic association 0.05, somatic mutation 0.77). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia, Medulloblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3821","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3821"},{"label":"UniProt O43524","url":"https://www.uniprot.org/uniprotkb/O43524/entry"},{"label":"NCBI Gene 2309","url":"https://www.ncbi.nlm.nih.gov/gene/2309"},{"label":"Ensembl ENSG00000118689","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118689"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","aml","medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXO3","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3821","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3821","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43524","url":"https://www.uniprot.org/uniprotkb/O43524/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000118689","url":"https://platform.opentargets.org/target/ENSG00000118689/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: skin cancer 0.52, breast cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen FOXO3","url":"https://www.intogen.org/search?gene=FOXO3","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3821","ensembl":"ENSG00000118689","uniprot":"O43524","entrez":"2309","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hillion et al, Blood, 1997, \"AF6q21, a novel partner of the MLL gene in t(6;11)(q21;q23), defines a forkhead transcriptional factor subfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9345057/","biology":"Transcriptional activator that recognises and binds to the DNA sequence 5'-[AG]TAAA[TC]A-3' and regulates different processes, such as apoptosis and autophagy. Acts as a positive regulator of autophagy in skeletal muscle: in starved cells, enters the nucleus following dephosphorylation and binds the promoters of autophagy genes, such as GABARAP1L, MAP1LC3B and ATG12, thereby activating their expression, resulting in proteolysis of skeletal muscle proteins. Triggers apoptosis in the absence of survival factors, including neuronal cell death upon oxidative stress. Participates in post-transcriptional regulation of MYC: following phosphorylation by MAPKAPK5, promotes induction of miR-34b and miR-34c expression, 2 post-transcriptional regulators of MYC that bind to the 3'UTR of MYC transcript and prevent its translation. In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription. In response to metabolic stress, translocates into the mitochondria where it promotes mtDNA transcription. Location: Cytoplasm, cytosol; Nucleus; Mitochondrion matrix; Mitochondrion outer membrane (UniProt). Locus 6q21 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)","Medulloblastoma: IntOGen driver in 1 cohort (MBL)"],"targetClass":"oncogene","prevalence":[]},{"id":"foxo4","kind":"target","name":"FOXO4","aka":["forkhead box O4","Forkhead box protein O4","AFX1","MLLT7"],"tldr":"FOXO4 (Forkhead box protein O4) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"Transcription factor involved in the regulation of the insulin signalling pathway. Binds to insulin-response elements (IREs) and can activate transcription of IGFBP1. Down-regulates expression of HIF1A and suppresses hypoxia-induced transcriptional activation of HIF1A-modulated genes.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.89).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7139","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7139"},{"label":"UniProt P98177","url":"https://www.uniprot.org/uniprotkb/P98177/entry"},{"label":"NCBI Gene 4303","url":"https://www.ncbi.nlm.nih.gov/gene/4303"},{"label":"Ensembl ENSG00000184481","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184481"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXO4","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7139","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7139","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P98177","url":"https://www.uniprot.org/uniprotkb/P98177/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184481","url":"https://platform.opentargets.org/target/ENSG00000184481/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7139","ensembl":"ENSG00000184481","uniprot":"P98177","entrez":"4303","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Peters et al, Hum. Genet, 1997, \"AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9341872/","biology":"Transcription factor involved in the regulation of the insulin signalling pathway. Binds to insulin-response elements (IREs) and can activate transcription of IGFBP1. Down-regulates expression of HIF1A and suppresses hypoxia-induced transcriptional activation of HIF1A-modulated genes. Also involved in negative regulation of the cell cycle. Involved in increased proteasome activity in embryonic stem cells (ESCs) by activating expression of PSMD11 in ESCs, leading to enhanced assembly of the 26S proteasome, followed by higher proteasome activity. Location: Cytoplasm; Nucleus (UniProt). Locus Xq13.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"foxp1","kind":"target","name":"FOXP1","aka":["forkhead box P1","Forkhead box protein P1","QRF1","12CC4","HSPC215","hFKH1B"],"tldr":"FOXP1 (Forkhead box protein P1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer, Prostate cancer and 5 more.","summary":"Transcriptional repressor. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays an important role in the specification and differentiation of lung epithelium.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.67, somatic mutation 0.86). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3823","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3823"},{"label":"UniProt Q9H334","url":"https://www.uniprot.org/uniprotkb/Q9H334/entry"},{"label":"NCBI Gene 27086","url":"https://www.ncbi.nlm.nih.gov/gene/27086"},{"label":"Ensembl ENSG00000114861","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114861"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","breast-cancer","prostate","neuroendocrine","gastric","ovarian","esophageal","biliary-tract-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXP1","role":["tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3823","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3823","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H334","url":"https://www.uniprot.org/uniprotkb/Q9H334/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXP1","url":"https://civicdb.org/features/56","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000114861","url":"https://platform.opentargets.org/target/ENSG00000114861/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: gastric cancer 0.52, oesophageal cancer 0.51, prostate cancer 0.56, ovarian cancer 0.51, melanoma 0.64, neuroendocrine neoplasm 0.52 (GraphQL API, CC0)"},{"label":"IntOGen FOXP1","url":"https://www.intogen.org/search?gene=FOXP1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FOXP1: RNA low tissue specificity; high antibody staining in 24 normal tissues; highest cancer staining colorectal cancer (7 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Breast cancer (all types), Prostate cancer, Neuroendocrine tumours, Gastric & gastro-oesophageal junction cancer, Ovarian cancer, Oesophageal cancer and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (skin cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9H334","url":"https://www.uniprot.org/uniprotkb/Q9H334/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXP1","url":"https://civicdb.org/features/56","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen FOXP1","url":"https://www.intogen.org/search?gene=FOXP1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FOXP1 tissue","url":"https://www.proteinatlas.org/ENSG00000114861-FOXP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000114861 associations","url":"https://platform.opentargets.org/target/ENSG00000114861/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3823","ensembl":"ENSG00000114861","uniprot":"Q9H334","entrez":"27086","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang Q.-H. et al, Genome Res, 2000, \"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11042152/","biology":"Transcriptional repressor. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Location: Nucleus (UniProt). Locus 3p13 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.68 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.66 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Prostate cancer: Open Targets association 0.56 with prostate cancer (MONDO_0008315); IntOGen driver in 1 cohort (PRAD)","Neuroendocrine tumours: Open Targets association 0.52 with neuroendocrine neoplasm (MONDO_0019496)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"foxp3","kind":"target","name":"FOXP3","aka":["forkhead box P3","Forkhead box protein P3","JM2","DIETER","SCURFIN"],"tldr":"FOXP3 (Forkhead box protein P3) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells. Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Epirubicin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6106"},{"label":"UniProt Q9BZS1","url":"https://www.uniprot.org/uniprotkb/Q9BZS1/entry"},{"label":"NCBI Gene 50943","url":"https://www.ncbi.nlm.nih.gov/gene/50943"},{"label":"Ensembl ENSG00000049768","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000049768"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXP3","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6106","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BZS1","url":"https://www.uniprot.org/uniprotkb/Q9BZS1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXP3","url":"https://civicdb.org/features/11587","note":"1 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FOXP3: RNA tissue enhanced (epididymis 5 nTPM, lymphoid tissue 7 nTPM); blood lineage lineage enriched (T-cells 52 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FOXP3 tissue","url":"https://www.proteinatlas.org/ENSG00000049768-FOXP3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000049768 associations","url":"https://platform.opentargets.org/target/ENSG00000049768/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6106","ensembl":"ENSG00000049768","uniprot":"Q9BZS1","entrez":"50943","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Strom T.M. et al, 1998, \"Transcription map in Xp11.23\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9BZS1/entry","biology":"Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells. Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases. The suppressive activity of Treg involves the coordinate activation of many genes, including CTLA4 and TNFRSF18 by FOXP3 along with repression of genes encoding cytokines such as interleukin-2 (IL2) and interferon-gamma (IFNG). Inhibits cytokine production and T-cell effector function by repressing the activity of two key transcription factors, RELA and NFATC2. Mediates transcriptional repression of IL2 via its association with histone acetylase KAT5 and histone deacetylase HDAC7. Location: Nucleus; Cytoplasm (UniProt). Locus Xp11.23 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"foxp4","kind":"target","name":"FOXP4","aka":["forkhead box P4","Forkhead box protein P4","FLJ40908"],"tldr":"FOXP4 (Forkhead box protein P4) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transcriptional repressor that represses lung-specific expression.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.98, animal model 0.43, genetic association 0.61, somatic mutation 0.28).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20842","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20842"},{"label":"UniProt Q8IVH2","url":"https://www.uniprot.org/uniprotkb/Q8IVH2/entry"},{"label":"NCBI Gene 116113","url":"https://www.ncbi.nlm.nih.gov/gene/116113"},{"label":"Ensembl ENSG00000137166","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137166"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXP4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:20842","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20842","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IVH2","url":"https://www.uniprot.org/uniprotkb/Q8IVH2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137166","url":"https://platform.opentargets.org/target/ENSG00000137166/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:20842","ensembl":"ENSG00000137166","uniprot":"Q8IVH2","entrez":"116113","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Daigo et al, 2002, \"Isolation, mapping, and characterization of a novel human cDNA differentially expressed in the fundus of W/Wv mutant mice\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8IVH2/entry","biology":"Transcriptional repressor that represses lung-specific expression. Location: Nucleus (UniProt). Locus 6p21.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"foxr2","kind":"target","name":"FOXR2","aka":["forkhead box R2","Forkhead box protein R2","MGC21658","FOXN6"],"tldr":"FOXR2 (Forkhead box protein R2) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"UniProt has no function text for Q6PJQ5; HGNC names it \"forkhead box R2\".\n\nCIViC holds 3 clinical evidence items and 2 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30469","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30469"},{"label":"UniProt Q6PJQ5","url":"https://www.uniprot.org/uniprotkb/Q6PJQ5/entry"},{"label":"NCBI Gene 139628","url":"https://www.ncbi.nlm.nih.gov/gene/139628"},{"label":"Ensembl ENSG00000189299","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000189299"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: CNS Neuroblastoma With FOXR2 Activation."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FOXR2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:30469","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30469","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6PJQ5","url":"https://www.uniprot.org/uniprotkb/Q6PJQ5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FOXR2","url":"https://civicdb.org/features/18440","note":"3 evidence items, 2 assertions, 1 variants; diseases: CNS Neuroblastoma With FOXR2 Activation (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA FOXR2: RNA tissue enriched (testis 1 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (2 of 4 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas FOXR2 tissue","url":"https://www.proteinatlas.org/ENSG00000189299-FOXR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000189299 associations","url":"https://platform.opentargets.org/target/ENSG00000189299/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:30469","ensembl":"ENSG00000189299","uniprot":"Q6PJQ5","entrez":"139628","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"UniProt has no function text for Q6PJQ5; HGNC names it \"forkhead box R2\". Location: Nucleus (UniProt). Locus Xp11.21 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"frk","kind":"target","name":"FRK kinase","aka":[],"tldr":"FRK is a SRC-related kinase that mostly acts as a brake on growth; it is a minor off-target of approved kinase inhibitors and is lost or mutated in some liver and brain cancers.","summary":"Fyn-related kinase (FRK) is a non-receptor tyrosine kinase of the SRC family that, unusually for the family, behaves as a tumour suppressor in several tissues: it stabilises PTEN, and its loss is reported in glioma, hepatocellular carcinoma and breast cancer. It is listed as a target of approved drugs because multi-kinase inhibitors such as dasatinib bind it, rather than because inhibiting it is the goal. Activating FRK fusions and mutations have been described in a minority of liver cancers, where kinase inhibition may be relevant.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/FRK_(gene)","links":[{"label":"UniProt P42685: FRK","url":"https://www.uniprot.org/uniprotkb/P42685/entry"},{"label":"HGNC:3955 FRK","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3955"},{"label":"ChEMBL target CHEMBL4223","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL4223"}],"tags":["chembl-gap"],"related":["src"],"cancers":["glioblastoma","hcc"],"sections":[],"technologies":[],"targets":[],"drugs":["dasatinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"FRK","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Dasatinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA FRK: RNA low tissue specificity; high antibody staining in 4 normal tissues; highest cancer staining liver cancer (2 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types), Hepatocellular carcinoma); Open Targets associates it with 3 specific cancer types at or above 0.5 (chronic myeloid leukemia, colorectal cancer, acute lymphoblastic leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FRK tissue","url":"https://www.proteinatlas.org/ENSG00000111816-FRK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000111816 associations","url":"https://platform.opentargets.org/target/ENSG00000111816/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3955","ensembl":"ENSG00000111816","uniprot":"P42685","entrez":"2444","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cance W.G. et al, Int. J. Cancer, 1993, \"Novel protein kinases expressed in human breast cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8099900/","biology":"A nuclear and cytoplasmic SRC-family kinase expressed in epithelial tissues, brain and liver; it phosphorylates PTEN and retinoblastoma protein, slowing the cell cycle.","whereFound":["Epithelial tissues, brain and liver","Reduced in glioma, hepatocellular carcinoma and some breast cancers"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (FRK kinase); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"frs2","kind":"target","name":"FRS2","aka":["fibroblast growth factor receptor substrate 2","Fibroblast growth factor receptor substrate 2","SNT-1","FRS2alpha","SNT1","FRS2A"],"tldr":"FRS2 (Fibroblast growth factor receptor substrate 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Adapter protein that links activated FGR and NGF receptors to downstream signalling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signalling via SHC1 by competing for a common binding site on NTRK1.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.68, affected pathway 0.90, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16971","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16971"},{"label":"UniProt Q8WU20","url":"https://www.uniprot.org/uniprotkb/Q8WU20/entry"},{"label":"NCBI Gene 10818","url":"https://www.ncbi.nlm.nih.gov/gene/10818"},{"label":"Ensembl ENSG00000166225","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166225"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["fgfr-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FRS2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16971","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16971","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WU20","url":"https://www.uniprot.org/uniprotkb/Q8WU20/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000166225","url":"https://platform.opentargets.org/target/ENSG00000166225/associations","note":"association with cancer (MONDO_0004992) 0.65;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16971","ensembl":"ENSG00000166225","uniprot":"Q8WU20","entrez":"10818","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xu et al, J. Biol. Chem, 1998, \"Novel recognition motif on fibroblast growth factor receptor mediates direct association and activation of SNT adapter proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9660748/","biology":"Adapter protein that links activated FGR and NGF receptors to downstream signalling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signalling via SHC1 by competing for a common binding site on NTRK1. Location: Endomembrane system (UniProt). Locus 12q15 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"frs3","kind":"target","name":"FRS3","aka":["fibroblast growth factor receptor substrate 3","Fibroblast growth factor receptor substrate 3","SNT-2","FRS2beta","FRS2B"],"tldr":"FRS3 (Fibroblast growth factor receptor substrate 3) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Adapter protein that links FGF and NGF receptors to downstream signalling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signalling by interfering with the phosphorylation and nuclear translocation of ERK2.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.74, affected pathway 0.76, genetic association 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16970","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16970"},{"label":"UniProt O43559","url":"https://www.uniprot.org/uniprotkb/O43559/entry"},{"label":"NCBI Gene 10817","url":"https://www.ncbi.nlm.nih.gov/gene/10817"},{"label":"Ensembl ENSG00000137218","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137218"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FRS3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16970","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16970","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43559","url":"https://www.uniprot.org/uniprotkb/O43559/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137218","url":"https://platform.opentargets.org/target/ENSG00000137218/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16970","ensembl":"ENSG00000137218","uniprot":"O43559","entrez":"10817","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xu et al, J. Biol. Chem, 1998, \"Novel recognition motif on fibroblast growth factor receptor mediates direct association and activation of SNT adapter proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9660748/","biology":"Adapter protein that links FGF and NGF receptors to downstream signalling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signalling by interfering with the phosphorylation and nuclear translocation of ERK2. Location: Membrane (UniProt). Locus 6p21.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fto","kind":"target","name":"FTO","aka":["FTO alpha-ketoglutarate dependent dioxygenase","Alpha-ketoglutarate-dependent dioxygenase FTO","KIAA1752","MGC5149","ALKBH9","IFEX9"],"tldr":"FTO (Alpha-ketoglutarate-dependent dioxygenase FTO) is an enzyme. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis. Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. M6A demethylation by FTO affects mRNA expression and stability.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 1.00, genetic association 0.77, clinical 0.16).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24678","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24678"},{"label":"UniProt Q9C0B1","url":"https://www.uniprot.org/uniprotkb/Q9C0B1/entry"},{"label":"NCBI Gene 79068","url":"https://www.ncbi.nlm.nih.gov/gene/79068"},{"label":"Ensembl ENSG00000140718","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140718"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.16. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FTO","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:24678","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24678","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9C0B1","url":"https://www.uniprot.org/uniprotkb/Q9C0B1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140718","url":"https://platform.opentargets.org/target/ENSG00000140718/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: breast cancer 0.61 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA FTO: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining renal cancer (5 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (breast carcinoma, breast cancer, triple-negative breast carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FTO tissue","url":"https://www.proteinatlas.org/ENSG00000140718-FTO/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000140718 associations","url":"https://platform.opentargets.org/target/ENSG00000140718/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:24678","ensembl":"ENSG00000140718","uniprot":"Q9C0B1","entrez":"79068","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11214970/","biology":"RNA demethylase that mediates oxidative demethylation of different RNA species, such as mRNAs, tRNAs and snRNAs, and acts as a regulator of fat mass, adipogenesis and energy homeostasis. Specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes. M6A demethylation by FTO affects mRNA expression and stability. Also able to demethylate m6A in U6 small nuclear RNA (snRNA). Mediates demethylation of N(6),2'-O-dimethyladenosine cap (m6A(m)), by demethylating the N(6)-methyladenosine at the second transcribed position of mRNAs and U6 snRNA. Demethylation of m6A(m) in the 5'-cap by FTO affects mRNA stability by promoting susceptibility to decapping. Location: Nucleus; Nucleus speckle; Cytoplasm (UniProt). Locus 16q12.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"fubp1","kind":"target","name":"FUBP1","aka":["far upstream element binding protein 1","Far upstream element-binding protein 1"],"tldr":"FUBP1 (Far upstream element-binding protein 1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer, Colorectal cancer and 2 more.","summary":"Regulates MYC expression by binding to a single-stranded far-upstream element (FUSE) upstream of the MYC promoter. May act both as activator and repressor of transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.54, somatic mutation 0.77). IntOGen calls it a driver in 4 cohorts (2 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Low-Grade Glioma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4004","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4004"},{"label":"UniProt Q96AE4","url":"https://www.uniprot.org/uniprotkb/Q96AE4/entry"},{"label":"NCBI Gene 8880","url":"https://www.ncbi.nlm.nih.gov/gene/8880"},{"label":"Ensembl ENSG00000162613","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162613"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","breast-cancer","colorectal","lung-cancer","cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Oligodendroglioma; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FUBP1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4004","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4004","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96AE4","url":"https://www.uniprot.org/uniprotkb/Q96AE4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FUBP1","url":"https://civicdb.org/features/7044","note":"1 evidence items, 0 assertions, 1 variants; diseases: Oligodendroglioma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000162613","url":"https://platform.opentargets.org/target/ENSG00000162613/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: colorectal cancer 0.54, skin cancer 0.61, lung cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen FUBP1","url":"https://www.intogen.org/search?gene=FUBP1","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA FUBP1: RNA low tissue specificity; high antibody staining in 45 normal tissues; highest cancer staining breast cancer (11 of 11 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Breast cancer (all types), Colorectal cancer, Lung cancer (all types), Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q96AE4","url":"https://www.uniprot.org/uniprotkb/Q96AE4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene FUBP1","url":"https://civicdb.org/features/7044","note":"1 evidence items, 0 assertions, 1 variants; diseases: Oligodendroglioma (GraphQL API, CC0)"},{"label":"IntOGen FUBP1","url":"https://www.intogen.org/search?gene=FUBP1","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas FUBP1 tissue","url":"https://www.proteinatlas.org/ENSG00000162613-FUBP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162613 associations","url":"https://platform.opentargets.org/target/ENSG00000162613/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4004","ensembl":"ENSG00000162613","uniprot":"Q96AE4","entrez":"8880","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Duncan et al, Genes Dev, 1994, \"A sequence-specific, single-strand binding protein activates the far upstream element of c-myc and defines a new DNA-binding motif\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8125259/","biology":"Regulates MYC expression by binding to a single-stranded far-upstream element (FUSE) upstream of the MYC promoter. May act both as activator and repressor of transcription. Location: Nucleus (UniProt). Locus 1p31.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.61 with skin cancer (MONDO_0002898)","Breast cancer: IntOGen driver in 1 cohort (BRCA)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.50 with lung cancer (MONDO_0008903)","Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)"],"targetClass":"transcription","prevalence":[]},{"id":"fus","kind":"target","name":"FUS","aka":["FUS RNA binding protein","RNA-binding protein FUS","FUS1","hnRNP-P2","HNRNPP2","ALS6"],"tldr":"FUS (RNA-binding protein FUS) is a gene. The public catalogues list it as a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas, Hepatocellular carcinoma and Liposarcoma.","summary":"DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response. Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3'. Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.94, animal model 0.38, genetic association 0.00, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (0 activating, 0 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4010"},{"label":"UniProt P35637","url":"https://www.uniprot.org/uniprotkb/P35637/entry"},{"label":"NCBI Gene 2521","url":"https://www.ncbi.nlm.nih.gov/gene/2521"},{"label":"Ensembl ENSG00000089280","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000089280"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["sarcoma","hcc","liposarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["blood-brain-barrier-metastasis"],"terms":[],"trials":["nct06496971"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FUS","role":["fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4010","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35637","url":"https://www.uniprot.org/uniprotkb/P35637/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000089280","url":"https://platform.opentargets.org/target/ENSG00000089280/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: sarcoma 0.61, liposarcoma 0.56 (GraphQL API, CC0)"},{"label":"IntOGen FUS","url":"https://www.intogen.org/search?gene=FUS","note":"driver in 1 cohort (Act 0, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4010","ensembl":"ENSG00000089280","uniprot":"P35637","entrez":"2521","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Crozat et al, Nature, 1993, \"Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8510758/","biology":"DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response. Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3'. Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing. Also binds its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay. Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair. In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis. Location: Nucleus (UniProt). Locus 16p11.2 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.61 with sarcoma (MONDO_0005089)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Liposarcoma: Open Targets association 0.56 with liposarcoma (MONDO_0005060)"],"targetClass":"other","prevalence":[]},{"id":"fxr1","kind":"target","name":"FXR1","aka":["FMR1 autosomal homolog 1","RNA-binding protein FXR1"],"tldr":"FXR1 (RNA-binding protein FXR1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis. Specifically binds to AU-rich elements (AREs) in the 3'-UTR of target mRNAs. Promotes formation of some phase-separated membraneless compartment by undergoing liquid-liquid phase separation upon binding to AREs-containing mRNAs, leading to assemble mRNAs into cytoplasmic ribonucleoprotein granules that concentrate mRNAs with associated regulatory factors.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.89, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4023","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4023"},{"label":"UniProt P51114","url":"https://www.uniprot.org/uniprotkb/P51114/entry"},{"label":"NCBI Gene 8087","url":"https://www.ncbi.nlm.nih.gov/gene/8087"},{"label":"Ensembl ENSG00000114416","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114416"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FXR1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4023","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4023","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51114","url":"https://www.uniprot.org/uniprotkb/P51114/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000114416","url":"https://platform.opentargets.org/target/ENSG00000114416/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4023","ensembl":"ENSG00000114416","uniprot":"P51114","entrez":"8087","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Siomi M.C. et al, EMBO J, 1995, \"FXR1, an autosomal homolog of the fragile X mental retardation gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7781595/","biology":"mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis. Specifically binds to AU-rich elements (AREs) in the 3'-UTR of target mRNAs. Promotes formation of some phase-separated membraneless compartment by undergoing liquid-liquid phase separation upon binding to AREs-containing mRNAs, leading to assemble mRNAs into cytoplasmic ribonucleoprotein granules that concentrate mRNAs with associated regulatory factors. Required to activate translation of stored mRNAs during late spermatogenesis: acts by undergoing liquid-liquid phase separation to assemble target mRNAs into cytoplasmic ribonucleoprotein granules that recruit translation initiation factor EIF4G3 to activate translation of stored mRNAs in late spermatids. Promotes translation of MYC transcripts by recruiting the eIF4F complex to the translation start site. Acts as a negative regulator of inflammation in response to IL19 by promoting destabilisation of pro-inflammatory transcripts. Location: Cytoplasm, Cytoplasmic ribonucleoprotein granule; Cytoplasm, Stress granule; Cytoplasm; Cell projection, dendrite (UniProt). Locus 3q26.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"fyn","kind":"target","name":"FYN","aka":["FYN proto-oncogene, Src family tyrosine kinase","Tyrosine-protein kinase Fyn","MGC45350"],"tldr":"FYN (Tyrosine-protein kinase Fyn) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma, Leukaemia, Myeloproliferative neoplasms and 2 more.","summary":"Non-receptor tyrosine-protein kinase that plays a role in many biological processes including regulation of cell growth and survival, cell adhesion, integrin-mediated signalling, cytoskeletal remodeling, cell motility, immune response and axon guidance. Inactive FYN is phosphorylated on its C-terminal tail within the catalytic domain. Following activation by PKA, the protein subsequently associates with PTK2/FAK1, allowing PTK2/FAK1 phosphorylation, activation and targeting to focal adhesions.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes clinical 0.96, affected pathway 0.92, literature 0.97, genetic association 0.00, animal model 0.42).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4037","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4037"},{"label":"UniProt P06241","url":"https://www.uniprot.org/uniprotkb/P06241/entry"},{"label":"NCBI Gene 2534","url":"https://www.ncbi.nlm.nih.gov/gene/2534"},{"label":"Ensembl ENSG00000010810","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000010810"},{"label":"Sakata-Yanagimoto et al., Nat Genet 2014: somatic RHOA G17V in angioimmunoblastic T-cell lymphoma","url":"https://doi.org/10.1038/ng.2872"},{"label":"Palomero et al., Nat Genet 2014: recurrent mutations in epigenetic regulators, RHOA and FYN in peripheral T-cell lymphoma","url":"https://doi.org/10.1038/ng.2873"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","leukaemia","myeloproliferative-neoplasms","cml","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["epigenetic-reprogramming","clonal-haematopoiesis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, RHOA G17V and the epigenetic mutations of T-follicular-helper lymphoma: A single substitution, G17V, in the small GTPase RHOA produces a protein that does not bind GTP and that blocks the wild-type protein as well. It is specific to the tumour cell, whereas the TET2 mutations that accompany it are found in non-tumour haematopoietic cells too, which places the TET2 lesion earlier, in the stem cell, and makes this lymphoma a disease that grows out of clonal haematopoiesis. Frequency: RHOA G17V in 68% of angioimmunoblastic T-cell lymphoma samples, with every G17V case also carrying a TET2 mutation (Sakata-Yanagimoto 2014); independently, in 22 of 35 angioimmunoblastic cases, 67%, and 8 of 44 peripheral T-cell lymphoma not otherwise specified, 18%, alongside recurrent TET2, DNMT3A and IDH2 mutations and less frequent FYN, ATM, B2M and CD58 lesions (Palomero 2014). What it changes about treatment: Not through an approved test. The hypomethylating agents are used in this disease on the strength of the TET2 and DNMT3A biology rather than on a mutation result, and azacitidine-containing regimens have shown activity in T-follicular-helper histology specifically."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"FYN","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:4037","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4037","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P06241","url":"https://www.uniprot.org/uniprotkb/P06241/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000010810","url":"https://platform.opentargets.org/target/ENSG00000010810/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.56, non-Hodgkin lymphoma 0.69, chronic myelogenous leukaemia, BCR-ABL1 positive 0.60, myeloproliferative neoplasm 0.61, leukaemia 0.62 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA FYN: RNA low tissue specificity; blood lineage group enriched (NK-cells 69 nTPM, T-cells 175 nTPM); high antibody staining in 3 normal tissues; highest cancer staining lymphoma (4 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Myeloid neoplasms); Open Targets associates it with 2 specific cancer types at or above 0.5 (chronic myeloid leukemia, acute lymphoblastic leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas FYN tissue","url":"https://www.proteinatlas.org/ENSG00000010810-FYN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000010810 associations","url":"https://platform.opentargets.org/target/ENSG00000010810/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4037","ensembl":"ENSG00000010810","uniprot":"P06241","entrez":"2534","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kawakami et al, Mol. Cell. Biol, 1986, \"Isolation and oncogenic potential of a novel human src-like gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3099169/","biology":"Non-receptor tyrosine-protein kinase that plays a role in many biological processes including regulation of cell growth and survival, cell adhesion, integrin-mediated signalling, cytoskeletal remodeling, cell motility, immune response and axon guidance. Inactive FYN is phosphorylated on its C-terminal tail within the catalytic domain. Following activation by PKA, the protein subsequently associates with PTK2/FAK1, allowing PTK2/FAK1 phosphorylation, activation and targeting to focal adhesions. Involved in the regulation of cell adhesion and motility through phosphorylation of CTNNB1 (beta-catenin) and CTNND1 (delta-catenin). Regulates cytoskeletal remodeling by phosphorylating several proteins including the actin regulator WAS and the microtubule-associated proteins MAP2 and MAPT. Promotes cell survival by phosphorylating AGAP2/PIKE-A and preventing its apoptotic cleavage. Location: Cytoplasm; Nucleus; Cell membrane; Perikaryon (UniProt). Locus 6q21 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.69 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.61 with myeloproliferative neoplasm (MONDO_0020076)","Chronic myeloid leukaemia: Open Targets association 0.60 with chronic myelogenous leukaemia, BCR-ABL1 positive (MONDO_0011996)","Acute lymphoblastic leukaemia: Open Targets association 0.56 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"kinase","prevalence":[]},{"id":"csf3r","kind":"target","name":"G-CSF receptor (CSF3R)","aka":[],"tldr":"The receptor that tells the bone marrow to make neutrophils. Filgrastim and pegfilgrastim stimulate it to shorten the dangerous low-neutrophil period after chemotherapy, cutting the risk of febrile neutropenia.","summary":"The granulocyte colony-stimulating factor receptor on myeloid progenitors drives neutrophil production and release through JAK2 and STAT3 signalling. Recombinant G-CSF (filgrastim) and its long-acting pegylated form (pegfilgrastim) are given after myelosuppressive chemotherapy to shorten neutropenia and are recommended when the regimen carries a high risk of febrile neutropenia. They also mobilise stem cells before autologous transplantation. Activating CSF3R mutations define chronic neutrophilic leukaemia, which responds to the JAK inhibitor ruxolitinib.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Granulocyte_colony-stimulating_factor_receptor","links":[{"label":"UniProt Q99062: CSF3R","url":"https://www.uniprot.org/uniprotkb/Q99062/entry"}],"tags":[],"related":["jak2"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["filgrastim","pegfilgrastim"],"companies":[],"institutions":[],"pathways":[],"terms":["neutropenia","febrile-neutropenia"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CSF3R","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal granulocytes: HPA blood lineage lineage enriched at or above 25 nTPM, and 1 antibody (Eflapegrastim) aim at it, so normal cells of the lineage are hit too. HPA CSF3R: RNA tissue enhanced (bone marrow 184 nTPM, lung 134 nTPM, lymphoid tissue 375 nTPM); blood lineage lineage enriched (granulocytes 1,924 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms); approvals of single-target medicines aimed at it also list Breast cancer (all types), not counted; Open Targets associates it with 2 specific cancer types at or above 0.5 (myelodysplastic syndrome, acute myeloid leukemia); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CSF3R tissue","url":"https://www.proteinatlas.org/ENSG00000119535-CSF3R/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CSF3R pathology","url":"https://www.proteinatlas.org/ENSG00000119535-CSF3R/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000119535 associations","url":"https://platform.opentargets.org/target/ENSG00000119535/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2439","ensembl":"ENSG00000119535","uniprot":"Q99062","entrez":"1441","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Larsen et al, J. Exp. Med, 1990, \"Expression cloning of a human granulocyte colony-stimulating factor receptor: a structural mosaic of hematopoietin receptor, immunoglobulin, and fibronectin domains\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2147944/","biology":"Cytokine receptor on neutrophil progenitors signalling through JAK2 and STAT3; agonised by recombinant G-CSF.","whereFound":["Supportive care after chemotherapy (all cancers)","Chronic neutrophilic leukaemia (activating mutations)"],"targetClass":"other","prevalence":[{"cancerId":"myeloproliferative-neoplasms","pct":59,"measure":"Activating CSF3R mutation in chronic neutrophilic leukaemia or atypical BCR-ABL1-negative CML, 16 of 27 patients","source":"https://doi.org/10.1056/NEJMoa1214514","note":"Two mutation regions with different kinase dependencies (SRC family or JAK); ruxolitinib response reported in a JAK-type case"}]},{"id":"gab1","kind":"target","name":"GAB1","aka":["GRB2 associated binding protein 1","GRB2-associated-binding protein 1","DFNB26"],"tldr":"GAB1 (GRB2-associated-binding protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Adapter protein that plays a role in intracellular signalling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signalling. Probably involved in signalling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR).\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.82, animal model 0.50, genetic association 0.14).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4066","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4066"},{"label":"UniProt Q13480","url":"https://www.uniprot.org/uniprotkb/Q13480/entry"},{"label":"NCBI Gene 2549","url":"https://www.ncbi.nlm.nih.gov/gene/2549"},{"label":"Ensembl ENSG00000109458","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109458"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["fgfr-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GAB1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4066","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4066","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13480","url":"https://www.uniprot.org/uniprotkb/Q13480/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000109458","url":"https://platform.opentargets.org/target/ENSG00000109458/associations","note":"association with cancer (MONDO_0004992) 0.65;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4066","ensembl":"ENSG00000109458","uniprot":"Q13480","entrez":"2549","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Holgado-Madruga et al, Nature, 1996, \"A Grb2-associated docking protein in EGF- and insulin-receptor signalling\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8596638/","biology":"Adapter protein that plays a role in intracellular signalling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signalling. Probably involved in signalling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Involved in the MET/HGF-signalling pathway. Locus 4q31.21 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"gab2","kind":"target","name":"GAB2","aka":["GRB2 associated binding protein 2","GRB2-associated-binding protein 2","KIAA0571"],"tldr":"GAB2 (GRB2-associated-binding protein 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia, Myeloproliferative neoplasms and Chronic myeloid leukaemia.","summary":"Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signalling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signalling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.84, animal model 0.41, genetic association 0.47).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14458","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14458"},{"label":"UniProt Q9UQC2","url":"https://www.uniprot.org/uniprotkb/Q9UQC2/entry"},{"label":"NCBI Gene 9846","url":"https://www.ncbi.nlm.nih.gov/gene/9846"},{"label":"Ensembl ENSG00000033327","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000033327"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","cml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-abl1-signalling","cml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GAB2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:14458","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14458","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UQC2","url":"https://www.uniprot.org/uniprotkb/Q9UQC2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000033327","url":"https://platform.opentargets.org/target/ENSG00000033327/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: chronic myelogenous leukaemia, BCR-ABL1 positive 0.54, myeloproliferative neoplasm 0.59, leukaemia 0.59 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:14458","ensembl":"ENSG00000033327","uniprot":"Q9UQC2","entrez":"9846","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9628581/","biology":"Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signalling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signalling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and haematopoiesis. Location: Cytoplasm; Cell membrane; Membrane raft (UniProt). Locus 11q14.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.59 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Chronic myeloid leukaemia: Open Targets association 0.54 with chronic myelogenous leukaemia, BCR-ABL1 positive (MONDO_0011996)"],"targetClass":"other","prevalence":[]},{"id":"gabrg3","kind":"target","name":"GABRG3","aka":["gamma-aminobutyric acid type A receptor subunit gamma3","Gamma-aminobutyric acid receptor subunit gamma-3"],"tldr":"GABRG3 (Gamma-aminobutyric acid receptor subunit gamma-3) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s). When activated by GABA, GABAARs selectively allow the flow of chloride across the cell membrane down their electrochemical gradient.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.16, genetic association 0.51, clinical 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4088","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4088"},{"label":"UniProt Q99928","url":"https://www.uniprot.org/uniprotkb/Q99928/entry"},{"label":"NCBI Gene 2567","url":"https://www.ncbi.nlm.nih.gov/gene/2567"},{"label":"Ensembl ENSG00000182256","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182256"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.66. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GABRG3","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4088","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4088","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99928","url":"https://www.uniprot.org/uniprotkb/Q99928/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182256","url":"https://platform.opentargets.org/target/ENSG00000182256/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA GABRG3: RNA tissue enhanced (prostate 6 nTPM, retina 25 nTPM, testis 9 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas GABRG3 tissue","url":"https://www.proteinatlas.org/ENSG00000182256-GABRG3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000182256 associations","url":"https://platform.opentargets.org/target/ENSG00000182256/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4088","ensembl":"ENSG00000182256","uniprot":"Q99928","entrez":"2567","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hadingham K.L. et al, Eur. J. Pharmacol, 1995, \"Expression and pharmacology of human GABAA receptors containing gamma 3 subunits\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8719414/","biology":"Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s). When activated by GABA, GABAARs selectively allow the flow of chloride across the cell membrane down their electrochemical gradient. Location: Postsynaptic cell membrane; Cell membrane (UniProt). Locus 15q12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"gadd45a","kind":"target","name":"GADD45A","aka":["growth arrest and DNA damage inducible alpha","Growth arrest and DNA damage-inducible protein GADD45 alpha","GADD45","DDIT1"],"tldr":"GADD45A (Growth arrest and DNA damage-inducible protein GADD45 alpha) is a gene. The public catalogues list it as a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer.","summary":"In T-cells, functions as a regulator of p38 MAPKs by inhibiting p88 phosphorylation and activity. Might affect PCNA interaction with some CDK (cell division protein kinase) complexes; stimulates DNA excision repair in vitro and inhibits entry of cells into S phase.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4095","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4095"},{"label":"UniProt P24522","url":"https://www.uniprot.org/uniprotkb/P24522/entry"},{"label":"NCBI Gene 1647","url":"https://www.ncbi.nlm.nih.gov/gene/1647"},{"label":"Ensembl ENSG00000116717","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116717"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA damage\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GADD45A","role":["biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4095","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4095","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P24522","url":"https://www.uniprot.org/uniprotkb/P24522/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GADD45A","url":"https://civicdb.org/features/1411","note":"1 evidence items, 0 assertions, 1 variants; diseases: Ovarian Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA GADD45A: RNA low tissue specificity; blood lineage group enriched (granulocytes 49 nTPM, T-cells 19 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas GADD45A tissue","url":"https://www.proteinatlas.org/ENSG00000116717-GADD45A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116717 associations","url":"https://platform.opentargets.org/target/ENSG00000116717/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4095","ensembl":"ENSG00000116717","uniprot":"P24522","entrez":"1647","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Papathanasiou M.A. et al, Mol. Cell. Biol, 1991, \"Induction by ionizing radiation of the gadd45 gene in cultured human cells: lack of mediation by protein kinase C\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1990262/","biology":"In T-cells, functions as a regulator of p38 MAPKs by inhibiting p88 phosphorylation and activity. Might affect PCNA interaction with some CDK (cell division protein kinase) complexes; stimulates DNA excision repair in vitro and inhibits entry of cells into S phase. Location: Nucleus (UniProt). Locus 1p31.3 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"lgals9","kind":"target","name":"Galectin-9 (LGALS9)","aka":["galectin 9","Gal-9","LGALS9A"],"tldr":"Galectin-9 is a sugar-binding protein that presses TIM-3 on T cells and can kill the helper T cells that carry it. Tumour blood vessels make more of it than normal ones.","summary":"LGALS9 (chromosome 17q11.2) encodes galectin-9, a galactoside-binding lectin that is the ligand for HAVCR2 (TIM-3); binding induces death of T-helper type 1 lymphocytes. It is expressed in peripheral blood leukocytes and lymphatic tissues and in lung, liver, breast and kidney, with higher levels in tumour endothelial cells than normal endothelium at the protein level (UniProt O00182).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:6570","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6570"},{"label":"UniProt O00182","url":"https://www.uniprot.org/uniprotkb/O00182/entry"},{"label":"NCBI Gene 3965","url":"https://www.ncbi.nlm.nih.gov/gene/3965"}],"tags":["checkpoint-map"],"related":["tim3","ceacam1","cobolimab"],"cancers":[],"sections":[],"technologies":["tim3-blockade"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["t-cell-exhaustion"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"LGALS9","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:6570","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6570","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt O00182","url":"https://www.uniprot.org/uniprotkb/O00182/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:6570","ensembl":"ENSG00000168961","uniprot":"O00182","entrez":"3965","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tuereci et al, J. Biol. Chem, 1997, \"Molecular definition of a novel human galectin which is immunogenic in patients with Hodgkin's disease\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9045665/","biology":"A tandem-repeat galectin; one of two TIM-3 ligands in this map, with CEACAM1.","whereFound":["Leukocytes and lymphatic tissue; tumour endothelium (UniProt O00182)"],"targetClass":"checkpoint","prevalence":[]},{"id":"galnt14","kind":"target","name":"GALNT14","aka":["polypeptide N-acetylgalactosaminyltransferase 14","Polypeptide N-acetylgalactosaminyltransferase 14","GalNac-T10","FLJ12691","GalNac-T14"],"tldr":"GALNT14 (Polypeptide N-acetylgalactosaminyltransferase 14) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma.","summary":"Catalyses the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:22946","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22946"},{"label":"UniProt Q96FL9","url":"https://www.uniprot.org/uniprotkb/Q96FL9/entry"},{"label":"NCBI Gene 79623","url":"https://www.ncbi.nlm.nih.gov/gene/79623"},{"label":"Ensembl ENSG00000158089","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158089"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GALNT14","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:22946","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22946","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96FL9","url":"https://www.uniprot.org/uniprotkb/Q96FL9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GALNT14","url":"https://civicdb.org/features/14923","note":"1 evidence items, 0 assertions, 2 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA GALNT14: RNA tissue enhanced (kidney 39 nTPM); blood lineage lineage enriched (granulocytes 9 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas GALNT14 tissue","url":"https://www.proteinatlas.org/ENSG00000158089-GALNT14/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000158089 associations","url":"https://platform.opentargets.org/target/ENSG00000158089/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:22946","ensembl":"ENSG00000158089","uniprot":"Q96FL9","entrez":"79623","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang et al, Biochem. Biophys. Res. Commun, 2003, \"Cloning and characterization of a novel UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, pp-GalNAc-T14\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12507512/","biology":"Catalyses the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney. Location: Golgi apparatus membrane (UniProt). Locus 2p23.1 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"gamma-secretase","kind":"target","name":"Gamma-secretase (PSEN1)","aka":[],"tldr":"The membrane enzyme that releases the active part of Notch. Nirogacestat blocks it and became the first drug approved for desmoid tumours, the aggressive but non-metastasising growths driven by Wnt signalling.","summary":"Gamma-secretase is a four-protein complex whose catalytic core, presenilin 1, cleaves membrane proteins including Notch receptors and amyloid precursor protein. Cleaving Notch releases its intracellular domain, so blocking gamma-secretase shuts down Notch signalling, which desmoid tumours depend on alongside their Wnt pathway mutations. Nirogacestat, approved in 2023 after the DeFi trial, shrinks desmoid tumours and reduces pain, at the cost of diarrhoea and ovarian toxicity in women. Earlier gamma-secretase inhibitors failed in Alzheimer disease and in T-cell leukaemia because of gut toxicity, and the same class is now used to unmask BCMA on myeloma cells to improve BCMA-directed therapy.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Gamma_secretase","links":[{"label":"UniProt P49768: PSEN1","url":"https://www.uniprot.org/uniprotkb/P49768/entry"}],"tags":[],"related":[],"cancers":["desmoid-tumour"],"sections":[],"technologies":["gamma-secretase-inhibitors"],"targets":[],"drugs":["nirogacestat"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PSEN1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Nirogacestat) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA PSEN1: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining stomach cancer (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (desmoid tumor). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSEN1 tissue","url":"https://www.proteinatlas.org/ENSG00000080815-PSEN1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000080815 associations","url":"https://platform.opentargets.org/target/ENSG00000080815/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9508","ensembl":"ENSG00000080815","uniprot":"P49768","entrez":"5663","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sherrington et al, Nature, 1995, \"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7596406/","biology":"Intramembrane aspartyl protease complex (PSEN1 or PSEN2, nicastrin, APH1, PEN2) that releases the Notch intracellular domain.","whereFound":["Desmoid tumours","Investigational in T-cell acute lymphoblastic leukaemia and as a BCMA-boosting partner in myeloma"],"targetClass":"enzyme","prevalence":[{"cancerId":"desmoid-tumour","pct":"about 85","measure":"CTNNB1 mutation in sporadic desmoid tumours, the Wnt activation that Notch inhibition addresses","source":"https://doi.org/10.2353/ajpath.2008.080475"}]},{"id":"gart","kind":"target","name":"GART (trifunctional purine synthesis enzyme)","aka":[],"tldr":"GART is one of the enzymes that builds purines from scratch; pemetrexed blocks it alongside thymidylate synthase, which is why the drug starves fast-growing lung and mesothelioma cells.","summary":"The trifunctional protein GART carries three activities of de novo purine synthesis, including glycinamide ribonucleotide formyltransferase, a folate-dependent step. Pemetrexed, once polyglutamated inside cells, inhibits thymidylate synthase most strongly but also GART and dihydrofolate reductase, giving it a multi-targeted antifolate action in non-small cell lung cancer and mesothelioma.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Trifunctional_purine_biosynthetic_protein_adenosine-3","links":[{"label":"UniProt P22102: GART","url":"https://www.uniprot.org/uniprotkb/P22102/entry"},{"label":"HGNC:4163 GART","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4163"},{"label":"ChEMBL target CHEMBL3972","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL3972"}],"tags":[],"related":["tyms","dhfr"],"cancers":["nsclc","mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":["pemetrexed"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"GART","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists GART among essential proteins and finds the RNA at low tissue specificity; the 1 medicine aimed at it (Pemetrexed) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA GART: RNA low tissue specificity; no normal tissue stained high; highest cancer staining testis cancer (10 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Mesothelioma); Open Targets associates it with 3 specific cancer types at or above 0.5 (non-small cell lung carcinoma, mesothelioma, malignant pleural mesothelioma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas GART tissue","url":"https://www.proteinatlas.org/ENSG00000159131-GART/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000159131 associations","url":"https://platform.opentargets.org/target/ENSG00000159131/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4163","ensembl":"ENSG00000159131","uniprot":"P22102","entrez":"2618","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aimi et al, Nucleic Acids Res, 1990, \"De novo purine nucleotide biosynthesis: cloning of human and avian cDNAs encoding the trifunctional glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase by functional complementation in E. coli\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2147474/","biology":"A cytosolic enzyme of the purine pathway whose activity rises with proliferation; inhibition depletes purine nucleotides needed for DNA and RNA.","whereFound":["Proliferating cells generally","Lung adenocarcinoma and mesothelioma treated with pemetrexed"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (purine synthesis); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"gas6","kind":"target","name":"GAS6","aka":["growth arrest specific 6","Growth arrest-specific protein 6","FLJ34709","DKFZp666G247","AXLLG"],"tldr":"GAS6 (Growth arrest-specific protein 6) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signalling is implicated in cell growth and survival, cell adhesion and cell migration. GAS6/AXL signalling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signalling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. Plays a role in Dengue cell entry by apoptotic mimicry.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Docetaxel.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4168","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4168"},{"label":"UniProt Q14393","url":"https://www.uniprot.org/uniprotkb/Q14393/entry"},{"label":"NCBI Gene 2621","url":"https://www.ncbi.nlm.nih.gov/gene/2621"},{"label":"Ensembl ENSG00000183087","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183087"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Oral Squamous Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GAS6","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4168","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4168","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14393","url":"https://www.uniprot.org/uniprotkb/Q14393/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GAS6","url":"https://civicdb.org/features/2186","note":"2 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer, Oral Squamous Cell Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA GAS6: RNA tissue enriched (blood vessel 838 nTPM); blood lineage lineage enriched (dendritic cells 71 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas GAS6 tissue","url":"https://www.proteinatlas.org/ENSG00000183087-GAS6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183087 associations","url":"https://platform.opentargets.org/target/ENSG00000183087/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4168","ensembl":"ENSG00000183087","uniprot":"Q14393","entrez":"2621","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Manfioletti et al, Mol. Cell. Biol, 1993, \"The protein encoded by a growth arrest-specific gene (gas6) is a new member of the vitamin K-dependent proteins related to protein S, a negative coregulator in the blood coagulation cascade\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8336730/","biology":"Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signalling is implicated in cell growth and survival, cell adhesion and cell migration. GAS6/AXL signalling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signalling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. Plays a role in Dengue cell entry by apoptotic mimicry. Plays a role in Vaccinia virus cell entry by apoptotic mimicry. Plays a role in ebolavirus and marburgvirus cell entry by apoptotic mimicry. Location: Secreted (UniProt). Locus 13q34 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"gata1","kind":"target","name":"GATA1","aka":["GATA binding protein 1","Erythroid transcription factor","ERYF1","NFE1","GATA-1","NF-E1","GF1"],"tldr":"GATA1 (Erythroid transcription factor) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Skin cancer and 1 more.","summary":"Transcriptional activator or repressor which serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.32, literature 0.96, genetic association 0.29, somatic mutation 0.94, animal model 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4170","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170"},{"label":"UniProt P15976","url":"https://www.uniprot.org/uniprotkb/P15976/entry"},{"label":"NCBI Gene 2623","url":"https://www.ncbi.nlm.nih.gov/gene/2623"},{"label":"Ensembl ENSG00000102145","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102145"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["myeloproliferative-neoplasms","leukaemia","skin-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myeloid Leukaemia Associated With Down Syndrome; Transient Myeloproliferative Syndrome."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GATA1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4170","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4170","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15976","url":"https://www.uniprot.org/uniprotkb/P15976/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GATA1","url":"https://civicdb.org/features/2188","note":"2 evidence items, 0 assertions, 2 variants; diseases: Myeloid Leukaemia Associated With Down Syndrome, Transient Myeloproliferative Syndrome (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000102145","url":"https://platform.opentargets.org/target/ENSG00000102145/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.69, skin cancer 0.55, myeloproliferative neoplasm 0.73, leukaemia 0.71 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA GATA1: RNA tissue enriched (bone marrow 56 nTPM); blood lineage lineage enriched (granulocytes 463 nTPM); high antibody staining in 2 normal tissues. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Skin cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (Diamond-Blackfan anemia, transient myeloproliferative syndrome, acute megakaryoblastic leukemia in down syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas GATA1 tissue","url":"https://www.proteinatlas.org/ENSG00000102145-GATA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000102145 associations","url":"https://platform.opentargets.org/target/ENSG00000102145/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4170","ensembl":"ENSG00000102145","uniprot":"P15976","entrez":"2623","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Trainor C.D. et al, Nature, 1990, \"Structure and evolution of a human erythroid transcription factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2104960/","biology":"Transcriptional activator or repressor which serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS. Location: Nucleus (UniProt). Locus Xp11.23 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.73 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.71 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Acute myeloid leukaemia: Open Targets association 0.69 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"transcription","prevalence":[]},{"id":"gata2","kind":"target","name":"GATA2","aka":["GATA binding protein 2","Endothelial transcription factor GATA-2","NFE1B"],"tldr":"GATA2 (Endothelial transcription factor GATA-2) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Myelodysplastic syndromes / neoplasms and 5 more.","summary":"Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Bortezomib and Fasudil. Open Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes genetic literature 0.89, literature 0.98, genetic association 0.82, somatic mutation 0.95, animal model 0.57). IntOGen calls it a driver in 5 cohorts (3 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Head and Neck Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4171","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171"},{"label":"UniProt P23769","url":"https://www.uniprot.org/uniprotkb/P23769/entry"},{"label":"NCBI Gene 2624","url":"https://www.ncbi.nlm.nih.gov/gene/2624"},{"label":"Ensembl ENSG00000179348","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000179348"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","mds","prostate","head-and-neck","skin-cancer","lung-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GATA2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4171","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4171","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23769","url":"https://www.uniprot.org/uniprotkb/P23769/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GATA2","url":"https://civicdb.org/features/25","note":"2 evidence items, 0 assertions, 2 variants; diseases: Acute Myeloid Leukaemia, Lung Adenocarcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000179348","url":"https://platform.opentargets.org/target/ENSG00000179348/associations","note":"association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: prostate cancer 0.57, acute myeloid leukaemia 0.76, skin cancer 0.54, myelodysplastic syndrome 0.77, myeloproliferative neoplasm 0.80, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen GATA2","url":"https://www.intogen.org/search?gene=GATA2","note":"driver in 5 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA GATA2: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 567 nTPM); high antibody staining in 6 normal tissues; highest cancer staining testis cancer (5 of 11 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Prostate cancer, Head and neck squamous cell carcinoma, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 4 specific cancer types at or above 0.5 (myelodysplastic syndrome, acute myeloid leukemia, leukemia, acute myeloid, susceptibility to, prostate carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P23769","url":"https://www.uniprot.org/uniprotkb/P23769/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GATA2","url":"https://civicdb.org/features/25","note":"2 evidence items, 0 assertions, 2 variants; diseases: Acute Myeloid Leukaemia, Lung Adenocarcinoma (GraphQL API, CC0)"},{"label":"IntOGen GATA2","url":"https://www.intogen.org/search?gene=GATA2","note":"driver in 5 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas GATA2 tissue","url":"https://www.proteinatlas.org/ENSG00000179348-GATA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000179348 associations","url":"https://platform.opentargets.org/target/ENSG00000179348/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4171","ensembl":"ENSG00000179348","uniprot":"P23769","entrez":"2624","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee M.-E. et al, J. Biol. Chem, 1991, \"Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1714909/","biology":"Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5'-AGATAG-3'. Location: Nucleus (UniProt). Locus 3q21.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.80 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.80 with myeloproliferative neoplasm (MONDO_0020076)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.77 with myelodysplastic syndrome (MONDO_0018881)","Prostate cancer: Open Targets association 0.57 with prostate cancer (MONDO_0008315)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},{"id":"gata3","kind":"target","name":"GATA3","aka":["GATA binding protein 3","Trans-acting T-cell-specific transcription factor GATA-3"],"tldr":"GATA3 (Trans-acting T-cell-specific transcription factor GATA-3) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Non-Hodgkin lymphoma, Leukaemia and 2 more.","summary":"Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cobimetinib. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes affected pathway 0.56, literature 0.99, genetic association 0.37, somatic mutation 0.87, animal model 0.65). IntOGen calls it a driver in 7 cohorts (3 activating, 3 loss-of-function), covering Acute Lymphoblastic Leukaemia, Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4172","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4172"},{"label":"UniProt P23771","url":"https://www.uniprot.org/uniprotkb/P23771/entry"},{"label":"NCBI Gene 2625","url":"https://www.ncbi.nlm.nih.gov/gene/2625"},{"label":"Ensembl ENSG00000107485","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107485"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","non-hodgkin-lymphoma","leukaemia","hodgkin-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Histiocytosis-Lymphadenopathy Plus Syndrome."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GATA3","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4172","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4172","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23771","url":"https://www.uniprot.org/uniprotkb/P23771/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GATA3","url":"https://civicdb.org/features/2189","note":"1 evidence items, 0 assertions, 1 variants; diseases: Histiocytosis-Lymphadenopathy Plus Syndrome (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000107485","url":"https://platform.opentargets.org/target/ENSG00000107485/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.62, Hodgkins lymphoma 0.51, non-Hodgkin lymphoma 0.66, breast cancer 0.74, leukaemia 0.66 (GraphQL API, CC0)"},{"label":"IntOGen GATA3","url":"https://www.intogen.org/search?gene=GATA3","note":"driver in 7 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA GATA3: RNA tissue enhanced (parathyroid gland 112 nTPM, skin 1 169 nTPM); blood lineage group enriched (NK-cells 40 nTPM, T-cells 51 nTPM); high antibody staining in 1 normal tissue; highest cancer staining breast cancer (3 of 9 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lymphoma, Leukaemia); Open Targets associates it with 4 specific cancer types at or above 0.5 (B-cell acute lymphoblastic leukemia, breast adenocarcinoma, Hodgkins lymphoma, nasal cavity polyp). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P23771","url":"https://www.uniprot.org/uniprotkb/P23771/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GATA3","url":"https://civicdb.org/features/2189","note":"1 evidence items, 0 assertions, 1 variants; diseases: Histiocytosis-Lymphadenopathy Plus Syndrome (GraphQL API, CC0)"},{"label":"IntOGen GATA3","url":"https://www.intogen.org/search?gene=GATA3","note":"driver in 7 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas GATA3 tissue","url":"https://www.proteinatlas.org/ENSG00000107485-GATA3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000107485 associations","url":"https://platform.opentargets.org/target/ENSG00000107485/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4172","ensembl":"ENSG00000107485","uniprot":"P23771","entrez":"2625","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Joulin et al, EMBO J, 1991, \"A T-cell specific TCR delta DNA binding protein is a member of the human GATA family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2050118/","biology":"Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5'-AGATAG-3'. Required for the T-helper 2 (Th2) differentiation process following immune and inflammatory responses. Positively regulates ASB2 expression. Coordinates macrophage transcriptional activation and UCP2-dependent metabolic reprogramming in response to IL33. Upon tissue injury, acts downstream of IL33 signalling to drive differentiation of inflammation-resolving alternatively activated macrophages. Location: Nucleus (UniProt). Locus 10p14 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.74 with breast cancer (MONDO_0007254); IntOGen driver in 6 cohorts (BRCA)","Non-Hodgkin lymphoma: Open Targets association 0.66 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.66 with leukaemia (MONDO_0005059)","Hodgkin lymphoma: Open Targets association 0.51 with Hodgkins lymphoma (MONDO_0004952)","Acute lymphoblastic leukaemia: Open Targets association 0.62 with acute lymphoblastic leukaemia (MONDO_0004967); IntOGen driver in 1 cohort (ALL)"],"targetClass":"transcription","prevalence":[]},{"id":"gd2","kind":"target","name":"GD2 (disialoganglioside)","aka":["Disialoganglioside GD2"],"tldr":"GD2 is a sugar-fat molecule on the surface of neuroblastoma cells (and some other childhood and adult tumours) with almost none on normal tissue except nerves, which is why anti-GD2 drugs cause pain.","summary":"Disialoganglioside GD2 is expressed at high density on nearly all neuroblastomas, most osteosarcomas and melanomas, and diffuse midline gliomas, with normal expression restricted to peripheral nerves, melanocytes and CNS. Anti-GD2 antibodies (dinutuximab, dinutuximab beta, naxitamab) improved high-risk neuroblastoma survival; GD2 CAR-T (GD2-CART01, Italian phase 1/2) gives durable complete responses in relapsed disease and shows activity in diffuse midline glioma (Stanford). Neuropathic pain from nerve GD2 binding is the class toxicity.","asOf":"2026-09-07","wikipedia":"https://en.wikipedia.org/wiki/GD2","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/GD2"}],"tags":["antibody-target","car-t-target"],"related":[],"cancers":["neuroblastoma","sarcoma","melanoma","glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":["dinutuximab","naxitamab"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct07744256","nct07480213"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"GD2 (B4GALNT1 product)","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 2 antibodies (Dinutuximab (ch14.18) / dinutuximab beta, Naxitamab) aim at the antigen, which HPA finds stained high in 6 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA B4GALNT1: RNA tissue enriched (brain 84 nTPM); high antibody staining in 6 normal tissues; highest cancer staining testis cancer (1 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Childhood cancers (all types), Skin cancer (all types), Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas B4GALNT1 tissue","url":"https://www.proteinatlas.org/ENSG00000135454-B4GALNT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas B4GALNT1 pathology","url":"https://www.proteinatlas.org/ENSG00000135454-B4GALNT1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000135454 associations","url":"https://platform.opentargets.org/target/ENSG00000135454/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Glycosphingolipid synthesised by GD2 synthase (B4GALNT1); not internalised efficiently, so antibodies act by ADCC/CDC rather than as ADC carriers.","whereFound":["Neuroblastoma (~100%)","Osteosarcoma","Melanoma","Diffuse midline glioma / DIPG","Small-cell lung cancer (subset)","Ewing sarcoma (subset)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"sarcoma","pct":100,"measure":"IHC, GD2 in 44 of 44 osteosarcoma specimens","source":"https://doi.org/10.1002/cncr.28461","note":"Roth 2014 (Cancer); recurrent samples stained more intensely than primaries"}]},{"id":"gdf7","kind":"target","name":"GDF7","aka":["growth differentiation factor 7","Growth/differentiation factor 7","BMP12"],"tldr":"GDF7 (Growth/differentiation factor 7) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"May play an active role in the motor area of the primate neocortex.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.67, animal model 0.71, genetic association 0.80).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4222","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4222"},{"label":"UniProt Q7Z4P5","url":"https://www.uniprot.org/uniprotkb/Q7Z4P5/entry"},{"label":"NCBI Gene 151449","url":"https://www.ncbi.nlm.nih.gov/gene/151449"},{"label":"Ensembl ENSG00000143869","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143869"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GDF7","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4222","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4222","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z4P5","url":"https://www.uniprot.org/uniprotkb/Q7Z4P5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143869","url":"https://platform.opentargets.org/target/ENSG00000143869/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4222","ensembl":"ENSG00000143869","uniprot":"Q7Z4P5","entrez":"151449","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Guo J.H. et al, 2002.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q7Z4P5/entry","biology":"May play an active role in the motor area of the primate neocortex. Location: Secreted (UniProt). Locus 2p24.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ghsr","kind":"target","name":"GHSR","aka":["growth hormone secretagogue receptor","Growth hormone secretagogue receptor type 1","GHS-R1a","GHS-R","GHSR-1a"],"tldr":"GHSR (Growth hormone secretagogue receptor type 1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"G protein-coupled receptor specific to ghrelin, an appetite-regulating peptide hormone commonly found in stomach. Upon activation, stimulates appetite and promotes growth hormone secretion. Ghrelin binding causes a conformation change that triggers signalling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as phospholipase C.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.16, clinical 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4267","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4267"},{"label":"UniProt Q92847","url":"https://www.uniprot.org/uniprotkb/Q92847/entry"},{"label":"NCBI Gene 2693","url":"https://www.ncbi.nlm.nih.gov/gene/2693"},{"label":"Ensembl ENSG00000121853","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121853"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.92. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GHSR","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:4267","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4267","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92847","url":"https://www.uniprot.org/uniprotkb/Q92847/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000121853","url":"https://platform.opentargets.org/target/ENSG00000121853/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA GHSR: RNA tissue enriched (pituitary gland 4 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas GHSR tissue","url":"https://www.proteinatlas.org/ENSG00000121853-GHSR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000121853 associations","url":"https://platform.opentargets.org/target/ENSG00000121853/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4267","ensembl":"ENSG00000121853","uniprot":"Q92847","entrez":"2693","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Howard A.D. et al, Science, 1996, \"A receptor in pituitary and hypothalamus that functions in growth hormone release\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8688086/","biology":"G protein-coupled receptor specific to ghrelin, an appetite-regulating peptide hormone commonly found in stomach. Upon activation, stimulates appetite and promotes growth hormone secretion. Ghrelin binding causes a conformation change that triggers signalling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as phospholipase C. GHSR is coupled to G(q) G proteins and mediates production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Also binds other growth hormone releasing peptides (GHRP) (e.g. Met-enkephalin and GHRP-6) as well as non-peptide, low molecular weight secretagogues (e.g. Location: Cell membrane (UniProt). Locus 3q26.31 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"tnfrsf18","kind":"target","name":"GITR (TNFRSF18)","aka":["GITR","AITR","CD357","TNF receptor superfamily member 18"],"tldr":"GITR is an accelerator on T cells that agonist antibodies tried to press to boost immunotherapy. Several reached early trials; one programme was dropped for reasons unrelated to safety.","summary":"TNFRSF18 (chromosome 1p36.33) encodes GITR, the receptor for TNFSF18 (GITR ligand), which seems to be involved in interactions between activated T lymphocytes and endothelial cells and in the regulation of T-cell-receptor-mediated cell death, and mediates NF-kappa-B activation through the TRAF2/NIK pathway; it is expressed in lymph node and peripheral blood leukocytes and weakly in spleen (UniProt Q9Y5U5). BMS-986156, a GITR agonist, completed phase 1/2 alone and with nivolumab (NCT02598960); TRX518 was discontinued for reasons unrelated to safety (NCT03861403).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:11914","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11914"},{"label":"UniProt Q9Y5U5","url":"https://www.uniprot.org/uniprotkb/Q9Y5U5/entry"},{"label":"NCBI Gene 8784","url":"https://www.ncbi.nlm.nih.gov/gene/8784"},{"label":"ClinicalTrials.gov NCT02598960","url":"https://clinicaltrials.gov/study/NCT02598960"}],"tags":["checkpoint-map"],"related":["tnfrsf4","cd137","nivolumab"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"TNFRSF18","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:11914","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11914","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt Q9Y5U5","url":"https://www.uniprot.org/uniprotkb/Q9Y5U5/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:11914","ensembl":"ENSG00000186891","uniprot":"Q9Y5U5","entrez":"8784","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gurney A.L. et al, Curr. Biol, 1999, \"Identification of a new member of the tumor necrosis factor family and its receptor, a human ortholog of mouse GITR\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10074428/","biology":"A TNF-receptor-superfamily costimulator on activated and regulatory T cells.","whereFound":["Lymph node and peripheral blood leukocytes (UniProt Q9Y5U5)"],"targetClass":"surface-antigen","prevalence":[]},{"id":"gli1","kind":"target","name":"GLI1","aka":["GLI family zinc finger 1","Transcription activator GLI1"],"tldr":"GLI1 (Transcription activator GLI1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas and Leiomyosarcoma.","summary":"Transcription activator that acts as a key effector of the smoothened signalling pathway, and which plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Binds to the DNA consensus sequence 5'-GACCACCCA-3'. Activated in response to smoothened signalling: in presence of hedgehog (DHH, IHH or SHH) and subsequent activation of smoothened, GLI1 translocates to the nucleus and promotes expression of target genes.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Leiomyosarcoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4317","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4317"},{"label":"UniProt P08151","url":"https://www.uniprot.org/uniprotkb/P08151/entry"},{"label":"NCBI Gene 2735","url":"https://www.ncbi.nlm.nih.gov/gene/2735"},{"label":"Ensembl ENSG00000111087","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111087"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["sarcoma","leiomyosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["basal-cell-carcinoma-signalling","hedgehog"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GLI1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4317","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4317","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08151","url":"https://www.uniprot.org/uniprotkb/P08151/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen GLI1","url":"https://www.intogen.org/search?gene=GLI1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4317","ensembl":"ENSG00000111087","uniprot":"P08151","entrez":"2735","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kinzler K.W. et al, Nature, 1988, \"The GLI gene is a member of the Kruppel family of zinc finger proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2832761/","biology":"Transcription activator that acts as a key effector of the smoothened signalling pathway, and which plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Binds to the DNA consensus sequence 5'-GACCACCCA-3'. Activated in response to smoothened signalling: in presence of hedgehog (DHH, IHH or SHH) and subsequent activation of smoothened, GLI1 translocates to the nucleus and promotes expression of target genes. In contrast to GLI2 and GLI3, does not contain a repressor domain and only acts as a transcription activator. Acts as a transcriptional activator, but activates a different set of genes than isoform 1. Activates expression of CD24, unlike isoform 1. Location: Cytoplasm; Nucleus; Cell projection, cilium (UniProt). Locus 12q13.3 (HGNC).","whereFound":["Sarcomas: IntOGen driver in 1 cohort (LMS)","Leiomyosarcoma: IntOGen driver in 1 cohort (LMS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"glucocorticoid-receptor","kind":"target","name":"Glucocorticoid receptor (NR3C1)","aka":[],"tldr":"The receptor that steroid hormones switch on inside cells. In lymphoid cancers, dexamethasone and prednisone acting through it kill malignant lymphocytes directly, which is why steroids sit inside leukaemia, lymphoma and myeloma regimens as well as easing nausea and swelling.","summary":"The glucocorticoid receptor is a nuclear receptor that, once bound by cortisol or a synthetic steroid, moves into the nucleus and reprogrammes transcription. In lymphoblasts, plasma cells and lymphoma cells this programme is pro-apoptotic, so dexamethasone and prednisone are active anticancer drugs in acute lymphoblastic leukaemia, Hodgkin and non-Hodgkin lymphoma and multiple myeloma, and dexamethasone is the partner of almost every myeloma combination. Loss of receptor function is a mechanism of steroid resistance in relapsed leukaemia. Steroids also treat the swelling around brain tumours, immune-related side effects, and chemotherapy-induced nausea, and prevent the hypersensitivity reactions of taxanes.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Glucocorticoid_receptor","links":[{"label":"UniProt P04150: NR3C1","url":"https://www.uniprot.org/uniprotkb/P04150/entry"}],"tags":[],"related":[],"cancers":["all-leukemia","multiple-myeloma","hodgkin-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":["dexamethasone","prednisone"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"NR3C1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Dexamethasone, Prednisone) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA NR3C1: RNA low tissue specificity; high antibody staining in 35 normal tissues; highest cancer staining renal cancer (10 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Multiple myeloma, Lymphoma); Open Targets associates it with 5 specific cancer types at or above 0.5 (plasma cell myeloma, prostate cancer, lymphoma, leukemia, mycosis fungoides). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NR3C1 tissue","url":"https://www.proteinatlas.org/ENSG00000113580-NR3C1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113580 associations","url":"https://platform.opentargets.org/target/ENSG00000113580/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7978","ensembl":"ENSG00000113580","uniprot":"P04150","entrez":"2908","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hollenberg S.M. et al, Nature, 1985, \"Primary structure and expression of a functional human glucocorticoid receptor cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2867473/","biology":"Ligand-activated nuclear receptor; in lymphoid cells its transcriptional programme induces apoptosis, the basis of steroid use in leukaemia, lymphoma and myeloma.","whereFound":["Acute lymphoblastic leukaemia","Multiple myeloma","Hodgkin and non-Hodgkin lymphoma","Supportive care across cancers"],"targetClass":"nuclear-receptor","prevalence":[{"cancerId":"all-leukemia","pct":"nearly all","measure":"Glucocorticoid receptor expressed in lymphoblasts; prednisone response is a prognostic marker","source":"https://www.cancer.gov/types/leukemia/hp/adult-all-treatment-pdq"}]},{"id":"gsr","kind":"target","name":"Glutathione reductase","aka":[],"tldr":"Glutathione reductase regenerates the cell's main antioxidant; the nitrosourea carmustine inhibits it as a side action to its DNA cross-linking, which adds to the drug's toxicity as well as its effect.","summary":"Glutathione reductase converts oxidised glutathione back to its reduced form, maintaining the cell's largest pool of antioxidant. Carmustine (BCNU), the nitrosourea used in glioma and in high-dose conditioning for lymphoma, carbamoylates the enzyme and inactivates it, so cells treated with the drug face oxidative stress as well as DNA cross-links; the effect is thought to contribute to carmustine's lung toxicity. Because tumours with high glutathione levels resist alkylating agents and platinum drugs, the glutathione system as a whole is a target for chemosensitisation.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Glutathione_reductase","links":[{"label":"UniProt P00390: GSR","url":"https://www.uniprot.org/uniprotkb/P00390/entry"},{"label":"HGNC:4623 GSR","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4623"},{"label":"ChEMBL target CHEMBL2755","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2755"}],"tags":["chembl-gap"],"related":["txnrd1"],"cancers":["glioblastoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":["carmustine"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"GSR","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Carmustine) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA GSR: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining carcinoid (2 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types), Lymphoma); Open Targets associates it with 4 specific cancer types at or above 0.5 (glioblastoma, plasma cell myeloma, Hodgkins lymphoma, non-Hodgkin lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas GSR tissue","url":"https://www.proteinatlas.org/ENSG00000104687-GSR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000104687 associations","url":"https://platform.opentargets.org/target/ENSG00000104687/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4623","ensembl":"ENSG00000104687","uniprot":"P00390","entrez":"2936","firstDescribed":1977,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Krohne-Ehrich et al, Eur. J. Biochem, 1977, \"Glutathione reductase from human erythrocytes. Isolation of the enzyme and sequence analysis of the redox-active peptide\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/923580/","biology":"A dimeric flavoenzyme using NADPH to reduce glutathione disulphide; part of the pentose phosphate and antioxidant network in every cell.","whereFound":["All cells, high in liver and red blood cells","Gliomas and lymphomas treated with carmustine"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (antioxidant recycling); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"gpc3","kind":"target","name":"Glypican-3","aka":[],"tldr":"Glypican-3 is a fetal liver protein that reappears in liver cancer, giving CAR-T and bispecifics a clean target.","summary":"Glypican-3 is a heparan sulfate proteoglycan that modulates Wnt and Hedgehog signalling; it is a fetal liver protein expressed in 70-80% of hepatocellular carcinoma and essentially absent from normal adult liver, which gives cell and bispecific therapies a clean target. It is also found in hepatoblastoma and yolk-sac tumours. Antibodies failed as monotherapy (codrituzumab), suggesting that simply binding GPC3 is not enough. GPC3 CAR-T, including armoured constructs from AstraZeneca/Neogene and Chinese groups, and GPC3×CD3 bispecifics are showing responses, though durability and the hostile liver microenvironment remain concerns. The simple version is a liver-development protein that reappears in liver cancer, letting engineered immune cells recognise the tumour.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Glypican_3","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Glypican_3"}],"tags":["car-t-target"],"related":[],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":["azd9793"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"GPC3","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (AZD9793) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA GPC3: RNA tissue enriched (placenta 670 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (Wilms tumor 1). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas GPC3 tissue","url":"https://www.proteinatlas.org/ENSG00000147257-GPC3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas GPC3 pathology","url":"https://www.proteinatlas.org/ENSG00000147257-GPC3/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147257 associations","url":"https://platform.opentargets.org/target/ENSG00000147257/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4451","ensembl":"ENSG00000147257","uniprot":"P51654","entrez":"2719","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pilia et al, Nat. Genet, 1996, \"Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8589713/","biology":"Glypican-3 is a heparan sulfate proteoglycan modulating Wnt and Hedgehog signalling.","whereFound":["Hepatocellular carcinoma","Hepatoblastoma","Yolk-sac tumours"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"hcc","pct":"70-80","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/Glypican_3"}]},{"id":"csf2ra","kind":"target","name":"GM-CSF receptor (CSF2RA)","aka":[],"tldr":"The GM-CSF receptor is what sargramostim switches on to speed the recovery of white cells after leukaemia chemotherapy and stem cell transplantation, and it is the signal that tumour vaccines such as talimogene use to recruit immune cells.","summary":"The granulocyte-macrophage colony-stimulating factor receptor is made of a ligand-binding alpha chain (CSF2RA) and the common beta chain shared with the IL-3 and IL-5 receptors. Recombinant GM-CSF (sargramostim, Leukine) is approved to shorten neutrophil recovery after induction chemotherapy for acute myeloid leukaemia and after autologous and allogeneic stem cell transplantation, and to mobilise stem cells. GM-CSF is also encoded into talimogene laherparepvec and several cancer vaccines to attract and mature dendritic cells at the tumour site, while the receptor itself is a marker on juvenile myelomonocytic leukaemia cells.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/GM-CSF_receptor","links":[{"label":"UniProt P15509: CSF2RA","url":"https://www.uniprot.org/uniprotkb/P15509/entry"},{"label":"HGNC:2435 CSF2RA","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2435"},{"label":"ChEMBL target CHEMBL2364169","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2364169"}],"tags":["chembl-gap"],"related":["jak2","csf3r"],"cancers":["aml","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["talimogene-laherparepvec"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"CSF2RA","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal dendritic cells and granulocytes and monocytes: HPA blood lineage group enriched at or above 25 nTPM, and surface-antigen class aim at it, so normal cells of the lineage are hit too. HPA CSF2RA: RNA tissue enhanced (placenta 60 nTPM); blood lineage group enriched (dendritic cells 170 nTPM, granulocytes 320 nTPM, monocytes 161 nTPM); no normal tissue stained high; highest cancer staining melanoma (3 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Skin cancer (all types)); approvals of single-target medicines aimed at it also list Lymphoma, not counted; Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CSF2RA tissue","url":"https://www.proteinatlas.org/ENSG00000198223-CSF2RA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas CSF2RA pathology","url":"https://www.proteinatlas.org/ENSG00000198223-CSF2RA/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198223 associations","url":"https://platform.opentargets.org/target/ENSG00000198223/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2435","ensembl":"ENSG00000198223","uniprot":"P15509","entrez":"1438","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gearing D.P. et al, EMBO J, 1989, \"Expression cloning of a receptor for human granulocyte-macrophage colony-stimulating factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2555171/","biology":"A type I cytokine receptor whose beta chain activates JAK2 and STAT5; it drives proliferation and differentiation of granulocyte and macrophage precursors and activates dendritic cells.","whereFound":["Myeloid progenitors, neutrophils, monocytes and dendritic cells","Juvenile myelomonocytic leukaemia and some AML blasts"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"metastatic-cancer","pct":"host","measure":"Host target: GM-CSF receptor on white-cell precursors. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"gmps","kind":"target","name":"GMPS","aka":["guanosine monophosphate synthase","GMP synthase [glutamine-hydrolyzing]","GATD7"],"tldr":"GMPS (GMP synthase [glutamine-hydrolysing]) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma.","summary":"Catalyses the conversion of xanthine monophosphate (XMP) to GMP in the presence of glutamine and ATP through an adenyl-XMP intermediate.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4378","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4378"},{"label":"UniProt P49915","url":"https://www.uniprot.org/uniprotkb/P49915/entry"},{"label":"NCBI Gene 8833","url":"https://www.ncbi.nlm.nih.gov/gene/8833"},{"label":"Ensembl ENSG00000163655","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163655"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GMPS","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4378","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4378","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49915","url":"https://www.uniprot.org/uniprotkb/P49915/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen GMPS","url":"https://www.intogen.org/search?gene=GMPS","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4378","ensembl":"ENSG00000163655","uniprot":"P49915","entrez":"8833","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hirst et al, J. Biol. Chem, 1994, \"Human GMP synthetase. Protein purification, cloning, and functional expression of cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8089153/","biology":"Catalyses the conversion of xanthine monophosphate (XMP) to GMP in the presence of glutamine and ATP through an adenyl-XMP intermediate. Location: Cytoplasm, cytosol (UniProt). Locus 3q25.31 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)"],"targetClass":"oncogene","prevalence":[]},{"id":"gna11","kind":"target","name":"GNA11","aka":["G protein subunit alpha 11","Guanine nucleotide-binding protein subunit alpha-11","FBH2","FHH2","HHC2"],"tldr":"GNA11 (Guanine nucleotide-binding protein subunit alpha-11) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Melanoma and 1 more.","summary":"Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signalling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signalling by an activated GPCR promotes GDP release and GTP binding.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 5 variants, naming Trametinib, Mirdametinib, Selumetinib and Cabozantinib and others. Open Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes affected pathway 0.83, literature 0.90, genetic association 0.00, somatic mutation 0.90, animal model 0.63). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Melanoma, Uveal Melanoma. In OnCo, 1 product record names it (Darovasertib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4379","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4379"},{"label":"UniProt P29992","url":"https://www.uniprot.org/uniprotkb/P29992/entry"},{"label":"NCBI Gene 2767","url":"https://www.ncbi.nlm.nih.gov/gene/2767"},{"label":"Ensembl ENSG00000088256","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000088256"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","lung-cancer","melanoma","uveal-melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["darovasertib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 6 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; CIViC holds 9 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Congenital Hemangioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GNA11","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4379","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4379","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29992","url":"https://www.uniprot.org/uniprotkb/P29992/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GNA11","url":"https://civicdb.org/features/2308","note":"9 evidence items, 0 assertions, 5 variants; diseases: Uveal Melanoma, Cancer, Congenital Hemangioma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000088256","url":"https://platform.opentargets.org/target/ENSG00000088256/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: melanoma 0.71, skin cancer 0.62, ocular melanoma 0.63, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen GNA11","url":"https://www.intogen.org/search?gene=GNA11","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (Darovasertib), an alteration absent from normal cells. HPA GNA11: RNA low tissue specificity; no normal tissue stained high; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"ClinicalTrials.gov: trials of Darovasertib","url":"https://clinicaltrials.gov/search?intr=IDE196"},{"label":"Human Protein Atlas GNA11 tissue","url":"https://www.proteinatlas.org/ENSG00000088256-GNA11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000088256 associations","url":"https://platform.opentargets.org/target/ENSG00000088256/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4379","ensembl":"ENSG00000088256","uniprot":"P29992","entrez":"2767","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jiang et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Guanine nucleotide-binding regulatory proteins in retinal pigment epithelial cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1902575/","biology":"Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signalling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signalling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins. Signalling is mediated via phospholipase C-beta-dependent inositol lipid hydrolysis for signal propagation: activates phospholipase C-beta: following GPCR activation, GNA11 activates PLC-beta (PLCB1, PLCB2, PLCB3 or PLCB4), leading to production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Location: Cell membrane; Cytoplasm (UniProt). Locus 19p13.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.62 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Melanoma: Open Targets association 0.71 with melanoma (MONDO_0005105); IntOGen driver in 1 cohort (MEL)","Uveal melanoma: Open Targets association 0.63 with ocular melanoma (MONDO_0006325); CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},{"id":"gna13","kind":"target","name":"GNA13","aka":["G protein subunit alpha 13","Guanine nucleotide-binding protein subunit alpha-13","G13","MGC46138"],"tldr":"GNA13 (Guanine nucleotide-binding protein subunit alpha-13) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Non-Hodgkin lymphoma, Diffuse large B-cell lymphoma and 1 more.","summary":"Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signalling systems. Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF1/p115RhoGEF, ARHGEF11/PDZ-RhoGEF and ARHGEF12/LARG). GNA13-dependent Rho signalling subsequently regulates transcription factor AP-1 (activating protein-1).\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant. IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Bladder Urothelial Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4381","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4381"},{"label":"UniProt Q14344","url":"https://www.uniprot.org/uniprotkb/Q14344/entry"},{"label":"NCBI Gene 10672","url":"https://www.ncbi.nlm.nih.gov/gene/10672"},{"label":"Ensembl ENSG00000120063","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000120063"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["urothelial","non-hodgkin-lymphoma","dlbcl","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GNA13","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4381","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4381","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14344","url":"https://www.uniprot.org/uniprotkb/Q14344/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GNA13","url":"https://civicdb.org/features/8516","note":"3 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen GNA13","url":"https://www.intogen.org/search?gene=GNA13","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA GNA13: RNA tissue enhanced (bone marrow 136 nTPM); high antibody staining in 11 normal tissues; highest cancer staining thyroid cancer (1 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q14344","url":"https://www.uniprot.org/uniprotkb/Q14344/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GNA13","url":"https://civicdb.org/features/8516","note":"3 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen GNA13","url":"https://www.intogen.org/search?gene=GNA13","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas GNA13 tissue","url":"https://www.proteinatlas.org/ENSG00000120063-GNA13/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000120063 associations","url":"https://platform.opentargets.org/target/ENSG00000120063/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4381","ensembl":"ENSG00000120063","uniprot":"Q14344","entrez":"10672","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kabouridis P.S. et al, Mol. Cell. Biochem, 1995, \"Expression of GTP-binding protein alpha subunits in human thymocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7791744/","biology":"Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signalling systems. Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF1/p115RhoGEF, ARHGEF11/PDZ-RhoGEF and ARHGEF12/LARG). GNA13-dependent Rho signalling subsequently regulates transcription factor AP-1 (activating protein-1). Promotes tumour cell invasion and metastasis by activating RhoA/ROCK signalling pathway. Inhibits CDH1-mediated cell adhesion in a process independent from Rho activation. In lymphoid follicles, transmits P2RY8- and S1PR2-dependent signals that lead to inhibition of germinal centre (GC) B cell growth and migration outside the GC niche. Location: Cell membrane; Melanosome; Cytoplasm; Nucleus (UniProt). Locus 17q24.1 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (MLYM)","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (DLBCLNOS)","Burkitt lymphoma: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"gnai2","kind":"target","name":"GNAI2","aka":["G protein subunit alpha i2","Guanine nucleotide-binding protein G(i) subunit alpha-2","GNAI2B"],"tldr":"GNAI2 (Guanine nucleotide-binding protein G(i) subunit alpha-2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma and Burkitt lymphoma.","summary":"Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signalling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signalling by an activated GPCR promotes GDP release and GTP binding.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4385","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4385"},{"label":"UniProt P04899","url":"https://www.uniprot.org/uniprotkb/P04899/entry"},{"label":"NCBI Gene 2771","url":"https://www.ncbi.nlm.nih.gov/gene/2771"},{"label":"Ensembl ENSG00000114353","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114353"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["non-hodgkin-lymphoma","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: EZB Diffuse Large B-cell Lymphoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GNAI2","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4385","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4385","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P04899","url":"https://www.uniprot.org/uniprotkb/P04899/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GNAI2","url":"https://civicdb.org/features/2312","note":"2 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma, EZB Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen GNAI2","url":"https://www.intogen.org/search?gene=GNAI2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA GNAI2: RNA low tissue specificity; high antibody staining in 12 normal tissues; highest cancer staining lymphoma (5 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P04899","url":"https://www.uniprot.org/uniprotkb/P04899/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GNAI2","url":"https://civicdb.org/features/2312","note":"2 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma, EZB Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen GNAI2","url":"https://www.intogen.org/search?gene=GNAI2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas GNAI2 tissue","url":"https://www.proteinatlas.org/ENSG00000114353-GNAI2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000114353 associations","url":"https://platform.opentargets.org/target/ENSG00000114353/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4385","ensembl":"ENSG00000114353","uniprot":"P04899","entrez":"2771","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Didsbury J.R. et al, FEBS Lett, 1987, \"Human Gi protein alpha-subunit: deduction of amino acid structure from a cloned cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3100330/","biology":"Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signalling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signalling by an activated GPCR promotes GDP release and GTP binding. Examples of interacting GPCRs include the adenosine A1 receptor/ADORA1, CNR1, and FPR2. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins. Location: Cytoplasm; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cell membrane; Membrane (UniProt). Locus 3p21.31 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (NHL)","Burkitt lymphoma: CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},{"id":"gnaq","kind":"target","name":"GNAQ","aka":["G protein subunit alpha q","Guanine nucleotide-binding protein G(q) subunit alpha","G-ALPHA-q"],"tldr":"GNAQ (Guanine nucleotide-binding protein G(q) subunit alpha) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Hepatocellular carcinoma, Breast cancer and 3 more.","summary":"Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signalling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signalling by an activated GPCR promotes GDP release and GTP binding.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 4 variants, naming Vemurafenib, Trametinib, Mirdametinib and PLX4720 and others. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.87, literature 0.87, genetic association 0.03, somatic mutation 0.95, animal model 0.59). IntOGen calls it a driver in 4 cohorts (2 activating, 1 loss-of-function), covering Hepatocellular Carcinoma, Non-Small Cell Lung Cancer, Cutaneous Melanoma, Uveal Melanoma. In OnCo, 1 product record names it (Darovasertib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4390","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4390"},{"label":"UniProt P50148","url":"https://www.uniprot.org/uniprotkb/P50148/entry"},{"label":"NCBI Gene 2776","url":"https://www.ncbi.nlm.nih.gov/gene/2776"},{"label":"Ensembl ENSG00000156052","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156052"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","hcc","breast-cancer","melanoma","uveal-melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["darovasertib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct03947385","nct05415072"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 9 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 9 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Congenital Hemangioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GNAQ","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4390","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4390","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50148","url":"https://www.uniprot.org/uniprotkb/P50148/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GNAQ","url":"https://civicdb.org/features/2317","note":"9 evidence items, 0 assertions, 4 variants; diseases: Uveal Melanoma, Skin Melanoma, Congenital Hemangioma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000156052","url":"https://platform.opentargets.org/target/ENSG00000156052/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: melanoma 0.72, skin cancer 0.62, ocular melanoma 0.64, breast cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen GNAQ","url":"https://www.intogen.org/search?gene=GNAQ","note":"driver in 4 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (Darovasertib), an alteration absent from normal cells. HPA GNAQ: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 27 nTPM); no normal tissue stained high; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Hepatocellular carcinoma, Breast cancer (all types), Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (congenital hemangioma). (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"ClinicalTrials.gov: trials of Darovasertib","url":"https://clinicaltrials.gov/search?intr=IDE196"},{"label":"Human Protein Atlas GNAQ tissue","url":"https://www.proteinatlas.org/ENSG00000156052-GNAQ/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000156052 associations","url":"https://platform.opentargets.org/target/ENSG00000156052/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4390","ensembl":"ENSG00000156052","uniprot":"P50148","entrez":"2776","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lesch K.-P. et al, Biol. Psychiatry, 1992, \"Signal-transducing G proteins and antidepressant drugs: evidence for modulation of alpha subunit gene expression in rat brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1333286/","biology":"Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signalling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signalling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins. Signalling is mediated via phospholipase C-beta-dependent inositol lipid hydrolysis for signal propagation: activates phospholipase C-beta: following GPCR activation, GNAQ activates PLC-beta (PLCB1, PLCB2, PLCB3 or PLCB4), leading to production of diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Location: Cell membrane; Golgi apparatus; Nucleus; Nucleus membrane (UniProt). Locus 9q21.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.62 with skin cancer (MONDO_0002898)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Melanoma: Open Targets association 0.72 with melanoma (MONDO_0005105); CIViC evidence names this disease","Uveal melanoma: Open Targets association 0.64 with ocular melanoma (MONDO_0006325); CIViC evidence names this disease","Non-small-cell lung cancer: IntOGen driver in 1 cohort (NSCLC)"],"targetClass":"enzyme","prevalence":[]},{"id":"gnas","kind":"target","name":"GNAS","aka":["GNAS complex locus","Neuroendocrine secretory protein 55","NESP55","GNASXL","SCG6","SgVI","GNAS1"],"tldr":"GNAS (Neuroendocrine secretory protein 55) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Pancreatic ductal adenocarcinoma, Breast cancer and 5 more.","summary":"UniProt has no function text for O95467; HGNC names it \"GNAS complex locus\".\n\nCIViC holds 17 clinical evidence items and 0 assertions across 5 variants, naming Trametinib, Palbociclib, Vemurafenib and Gefitinib and others. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.61, literature 0.98, genetic association 0.03, somatic mutation 0.97, animal model 0.25). IntOGen calls it a driver in 12 cohorts (11 activating, 1 loss-of-function), covering Invasive Breast Carcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma, Lung Adenocarcinoma, Medulloblastoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4392","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4392"},{"label":"UniProt O95467","url":"https://www.uniprot.org/uniprotkb/O95467/entry"},{"label":"NCBI Gene 2778","url":"https://www.ncbi.nlm.nih.gov/gene/2778"},{"label":"Ensembl ENSG00000087460","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000087460"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","pancreatic","breast-cancer","urothelial","esophageal","skin-cancer","hcc","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-pancreatic-integrated-characterisation-cancer-cell-2017","paper-wu-gnas-ipmn-sci-transl-med-2011"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 11 therapies; IntOGen calls it an activating (Act) driver in 11 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 17 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Pseudomyxoma Peritonei; Appendix Cancer; Follicular Thyroid Carcinoma; Histiocytosis-Lymphadenopathy Plus Syndrome.","Pancreatic ductal adenocarcinoma: GNAS R201 hotspot mutations in 2 to 4% of invasive cancers (cBioPortal) and 66% of intraductal papillary mucinous neoplasms, with KRAS or GNAS in 96% of them; the same mutation is carried into the invasive cancer in 7 of 8 IPMN-associated carcinomas and is absent from other cyst types (Wu 2011). A GNAS mutation therefore marks IPMN origin, and it defines 'incipient IPMN' in the Baltimore consensus (Basturk 2015)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GNAS","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4392","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4392","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95467","url":"https://www.uniprot.org/uniprotkb/O95467/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GNAS","url":"https://civicdb.org/features/2319","note":"17 evidence items, 0 assertions, 5 variants; diseases: Colorectal Cancer, Pseudomyxoma Peritonei, Appendix Cancer, Melanoma, Lung Non-small Cell Carcinoma and 9 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000087460","url":"https://platform.opentargets.org/target/ENSG00000087460/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.67, gastric cancer 0.51, ovarian cancer 0.51, melanoma 0.57, skin cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen GNAS","url":"https://www.intogen.org/search?gene=GNAS","note":"driver in 12 cohorts (Act 11, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA GNAS: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (5 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Pancreatic ductal adenocarcinoma, Breast cancer (all types), Bladder & urothelial cancer, Oesophageal cancer, Skin cancer (all types), Hepatocellular carcinoma and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (pituitary adenoma 3, multiple types). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O95467","url":"https://www.uniprot.org/uniprotkb/O95467/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GNAS","url":"https://civicdb.org/features/2319","note":"17 evidence items, 0 assertions, 5 variants; diseases: Colorectal Cancer, Pseudomyxoma Peritonei, Appendix Cancer, Melanoma, Lung Non-small Cell Carcinoma and 9 more (GraphQL API, CC0)"},{"label":"IntOGen GNAS","url":"https://www.intogen.org/search?gene=GNAS","note":"driver in 12 cohorts (Act 11, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas GNAS tissue","url":"https://www.proteinatlas.org/ENSG00000087460-GNAS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000087460 associations","url":"https://platform.opentargets.org/target/ENSG00000087460/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4392","ensembl":"ENSG00000087460","uniprot":"O95467","entrez":"2778","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hayward B.E. et al, Proc. Natl. Acad. Sci. U.S.A, 1998, \"Bidirectional imprinting of a single gene: human GNAS1 encodes distinct maternally, paternally and biallelically derived proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9860993/","biology":"UniProt has no function text for O95467; HGNC names it \"GNAS complex locus\". Location: Cytoplasmic vesicle, secretory vesicle; Secreted (UniProt). Locus 20q13.32 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.67 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease; IntOGen driver in 5 cohorts (PAAD, PANCREAS)","Breast cancer: CIViC evidence names this disease; IntOGen driver in 2 cohorts (BRCA)","Bladder & urothelial cancer: CIViC evidence names this disease","Oesophageal cancer: CIViC evidence names this disease; IntOGen driver in 1 cohort (ESCA)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Pancreatic ductal adenocarcinoma: r201 hotspot mutation (ipmn-derived tumours) 2-4%"],"targetClass":"oncogene","prevalence":[{"cancerId":"pancreatic","pct":"2-4","measure":"R201 hotspot mutation (IPMN-derived tumours)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal: 76 of 2,336, 3.3% (R201H 39, R201C 21, R201S 3), in pdac_msk_2024; 7 of 179, 3.9% (R201C 4, R201H 2), in paad_tcga_pan_can_atlas_2018; 10 of 383, 2.6%, in paad_qcmg_uq_2016; 9 of 395, 2.3%, in pancreas_msk_2024; 5 of 109 in paad_utsw_2015; GNAS was a recurrent gene in the TCGA analysis and KRAS wild-type tumours carried GNAS among their drivers (Cancer Genome Atlas 2017). GNAS mutations in 66% of 132 IPMNs, KRAS or GNAS in 96%, carried into the invasive cancer in 7 of 8 IPMN-associated carcinomas and absent from other cysts and from non-IPMN cancers (Wu 2011); 27 of 456 QCMG tumours were IPMN with invasion (cBioPortal histology)."}]},{"id":"gnb1","kind":"target","name":"GNB1","aka":["G protein subunit beta 1","Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1"],"tldr":"GNB1 (Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia, Non-Hodgkin lymphoma and Acute lymphoblastic leukaemia.","summary":"Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signalling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Involved in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4396","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4396"},{"label":"UniProt P62873","url":"https://www.uniprot.org/uniprotkb/P62873/entry"},{"label":"NCBI Gene 2782","url":"https://www.ncbi.nlm.nih.gov/gene/2782"},{"label":"Ensembl ENSG00000078369","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000078369"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GNB1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4396","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4396","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62873","url":"https://www.uniprot.org/uniprotkb/P62873/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000078369","url":"https://platform.opentargets.org/target/ENSG00000078369/associations","note":"per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.55, non-Hodgkin lymphoma 0.55, leukaemia 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4396","ensembl":"ENSG00000078369","uniprot":"P62873","entrez":"2782","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Codina et al, FEBS Lett, 1986, \"Beta-subunits of the human liver Gs/Gi signal-transducing proteins and those of bovine retinal rod cell transducin are identical\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3095147/","biology":"Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signalling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Involved in bitter and sweet taste transduction as well as in umami (monosodium glutamate, monopotassium glutamate, and inosine monophosphate) taste transduction. Locus 1p36.33 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.55 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Acute lymphoblastic leukaemia: Open Targets association 0.55 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"other","prevalence":[]},{"id":"gnrhr","kind":"target","name":"GnRH receptor (GNRHR)","aka":[],"tldr":"The pituitary receptor that starts the hormone chain leading to testosterone and oestrogen. Agonists overstimulate it into silence and antagonists block it outright, the basis of medical castration in prostate cancer and ovarian suppression in breast cancer.","summary":"Gonadotropin-releasing hormone from the hypothalamus binds GNRHR on pituitary gonadotroph cells to release LH and FSH, which drive testicular testosterone and ovarian oestrogen production. Continuous stimulation by agonists such as leuprolide and goserelin desensitises the receptor after an initial flare, while antagonists such as degarelix and the oral relugolix block it immediately. The result is castrate testosterone in prostate cancer, the backbone of androgen deprivation therapy, and ovarian function suppression in pre-menopausal breast cancer.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Gonadotropin-releasing_hormone_receptor","links":[{"label":"UniProt P30968: GNRHR","url":"https://www.uniprot.org/uniprotkb/P30968/entry"}],"tags":[],"related":[],"cancers":["prostate","breast-hr-positive"],"sections":[],"technologies":[],"targets":[],"drugs":["leuprolide","goserelin","degarelix"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"GNRHR","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enriched in normal pituitary gland, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA GNRHR: RNA tissue enriched (pituitary gland 12 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Breast cancer (all types)); approvals of single-target medicines aimed at it also list Salivary gland cancers, not counted; Open Targets associates it with 4 specific cancer types at or above 0.5 (prostate cancer, prostate carcinoma, breast cancer, uterine corpus leiomyoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas GNRHR tissue","url":"https://www.proteinatlas.org/ENSG00000109163-GNRHR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas GNRHR pathology","url":"https://www.proteinatlas.org/ENSG00000109163-GNRHR/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000109163 associations","url":"https://platform.opentargets.org/target/ENSG00000109163/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4421","ensembl":"ENSG00000109163","uniprot":"P30968","entrez":"2798","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kakar S.S. et al, Biochem. Biophys. Res. Commun, 1992, \"Cloning, sequencing, and expression of human gonadotropin releasing hormone (GnRH) receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1333190/","biology":"G protein-coupled receptor on pituitary gonadotrophs; agonist-induced desensitisation or antagonist blockade suppresses LH and FSH release.","whereFound":["Prostate cancer (androgen deprivation)","Pre-menopausal hormone receptor-positive breast cancer (ovarian suppression)"],"targetClass":"other","prevalence":[{"cancerId":"prostate","pct":"host","measure":"Host target: pituitary receptor that starts the testosterone chain. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"golga4","kind":"target","name":"GOLGA4","aka":["golgin A4","Golgin subfamily A member 4","golgin-245","GCP2","p230","golgin-240"],"tldr":"GOLGA4 (Golgin subfamily A member 4) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Involved in vesicular trafficking at the Golgi apparatus level. May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1. Involved in endosome-to-Golgi trafficking.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.68, affected pathway 0.76, genetic association 0.38).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4427","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4427"},{"label":"UniProt Q13439","url":"https://www.uniprot.org/uniprotkb/Q13439/entry"},{"label":"NCBI Gene 2803","url":"https://www.ncbi.nlm.nih.gov/gene/2803"},{"label":"Ensembl ENSG00000144674","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144674"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GOLGA4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4427","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4427","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13439","url":"https://www.uniprot.org/uniprotkb/Q13439/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000144674","url":"https://platform.opentargets.org/target/ENSG00000144674/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4427","ensembl":"ENSG00000144674","uniprot":"Q13439","entrez":"2803","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Seelig H.P., 1994.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q13439/entry","biology":"Involved in vesicular trafficking at the Golgi apparatus level. May play a role in delivery of transport vesicles containing GPI-linked proteins from the trans-Golgi network through its interaction with MACF1. Involved in endosome-to-Golgi trafficking. Location: Cytoplasm; Golgi apparatus membrane; Golgi apparatus, trans-Golgi network membrane (UniProt). Locus 3p22.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"golga5","kind":"target","name":"GOLGA5","aka":["golgin A5","Golgin subfamily A member 5","ret-II","golgin-84","rfg5","GOLIM5"],"tldr":"GOLGA5 (Golgin subfamily A member 5) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.10, genetic association 0.00, somatic mutation 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4428","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4428"},{"label":"UniProt Q8TBA6","url":"https://www.uniprot.org/uniprotkb/Q8TBA6/entry"},{"label":"NCBI Gene 9950","url":"https://www.ncbi.nlm.nih.gov/gene/9950"},{"label":"Ensembl ENSG00000066455","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000066455"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GOLGA5","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4428","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4428","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8TBA6","url":"https://www.uniprot.org/uniprotkb/Q8TBA6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000066455","url":"https://platform.opentargets.org/target/ENSG00000066455/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4428","ensembl":"ENSG00000066455","uniprot":"Q8TBA6","entrez":"9950","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ishizaka et al, Oncogene, 1989, \"Activation of the ret-II oncogene without a sequence encoding a transmembrane domain and transforming activity of two ret-II oncogene products differing in carboxy-termini due to alternative splicing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2734021/","biology":"Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport. Location: Golgi apparatus membrane (UniProt). Locus 14q32.12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"golgb1","kind":"target","name":"GOLGB1","aka":["golgin B1","Golgin subfamily B member 1","GCP372","giantin","GOLIM1"],"tldr":"GOLGB1 (Golgin subfamily B member 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"May participate in forming intercisternal cross-bridges of the Golgi complex.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.27, affected pathway 0.95, animal model 0.69, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4429","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4429"},{"label":"UniProt Q14789","url":"https://www.uniprot.org/uniprotkb/Q14789/entry"},{"label":"NCBI Gene 2804","url":"https://www.ncbi.nlm.nih.gov/gene/2804"},{"label":"Ensembl ENSG00000173230","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173230"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GOLGB1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4429","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4429","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14789","url":"https://www.uniprot.org/uniprotkb/Q14789/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000173230","url":"https://platform.opentargets.org/target/ENSG00000173230/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4429","ensembl":"ENSG00000173230","uniprot":"Q14789","entrez":"2804","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Seelig H.P. et al, J. Autoimmun, 1994, \"Macrogolgin -- a new 376 kD Golgi complex outer membrane protein as target of antibodies in patients with rheumatic diseases and HIV infections\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8198703/","biology":"May participate in forming intercisternal cross-bridges of the Golgi complex. Location: Golgi apparatus membrane (UniProt). Locus 3q13.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"gopc","kind":"target","name":"GOPC","aka":["golgi associated PDZ and coiled-coil motif containing","Golgi-associated PDZ and coiled-coil motif-containing protein","dJ94G16.2","GOPC1"],"tldr":"GOPC (Golgi-associated PDZ and coiled-coil motif-containing protein) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.31, animal model 0.39, genetic association 0.04, somatic mutation 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17643","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17643"},{"label":"UniProt Q9HD26","url":"https://www.uniprot.org/uniprotkb/Q9HD26/entry"},{"label":"NCBI Gene 57120","url":"https://www.ncbi.nlm.nih.gov/gene/57120"},{"label":"Ensembl ENSG00000047932","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000047932"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GOPC","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17643","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17643","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HD26","url":"https://www.uniprot.org/uniprotkb/Q9HD26/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000047932","url":"https://platform.opentargets.org/target/ENSG00000047932/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17643","ensembl":"ENSG00000047932","uniprot":"Q9HD26","entrez":"57120","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Neudauer C.L. et al, Biochem. Biophys. Res. Commun, 2001, \"PIST: a novel PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11162552/","biology":"Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Together with MARCHF2 mediates the ubiquitination and lysosomal degradation of CFTR. Overexpression results in CFTR intracellular retention and lysosomaldegradation in the lysosomes. Location: Cytoplasm; Golgi apparatus membrane; Golgi apparatus, trans-Golgi network membrane; Synapse (UniProt). Locus 6q22.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"gp100","kind":"target","name":"gp100 (PMEL)","aka":[],"tldr":"gp100 is a pigment-cell protein, and the target of the first bispecific drug to improve survival in a solid tumour, uveal melanoma.","summary":"gp100 (PMEL) is a melanosomal matrix protein of the pigment-cell lineage, present in more than 90 percent of melanomas including uveal melanoma. It sits inside the cell and is presented on the surface only as peptide in HLA, so it is reached through T-cell receptor recognition rather than antibodies. Tebentafusp (Kimmtrak), an ImmTAC that fuses a high-affinity TCR against gp100/HLA-A*02:01 to an anti-CD3 effector, improved overall survival in metastatic uveal melanoma in the IMCgp100-202 trial, making it the first bispecific to improve survival in a solid tumour. Because normal skin melanocytes also carry gp100, rash is an expected on-target effect, and the HLA-A*02:01 restriction limits eligibility. Extending the approach to cutaneous melanoma is under study. The newcomer's version: gp100 is a pigment-cell protein that gave uveal melanoma its first life-extending drug.","asOf":"2026-09-04","links":[{"label":"UniProt P40967: PMEL (gp100)","url":"https://www.uniprot.org/uniprotkb/P40967/entry"}],"tags":["tcr-target"],"related":[],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["tebentafusp"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PMEL","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (Tebentafusp) aim at the antigen, which HPA finds stained high in 1 normal tissue; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA PMEL: RNA tissue enhanced (cervix 32 nTPM, skin 1 109 nTPM); high antibody staining in 1 normal tissue; highest cancer staining melanoma (8 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PMEL tissue","url":"https://www.proteinatlas.org/ENSG00000185664-PMEL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PMEL pathology","url":"https://www.proteinatlas.org/ENSG00000185664-PMEL/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185664 associations","url":"https://platform.opentargets.org/target/ENSG00000185664/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10880","ensembl":"ENSG00000185664","uniprot":"P40967","entrez":"6490","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vogel, 1990, \"Sequence of a melanocyte specific secreted glycoprotein\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P40967/entry","biology":"Melanosomal matrix protein; intracellular, presented on HLA.","whereFound":["Melanoma including uveal"],"targetClass":"other","prevalence":[{"cancerId":"melanoma","pct":">90","measure":"Melanocytic lineage antigen","source":"https://en.wikipedia.org/wiki/Premelanosome_protein","note":"HLA-A*02:01 required for tebentafusp"}]},{"id":"gpaa1","kind":"target","name":"GPAA1","aka":["glycosylphosphatidylinositol anchor attachment 1","GPI-anchor transamidase component GPAA1","GAA1","hGAA1"],"tldr":"GPAA1 (GPI-anchor transamidase component GPAA1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer.","summary":"Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyses the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis. Binds GPI-anchor.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4446","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4446"},{"label":"UniProt O43292","url":"https://www.uniprot.org/uniprotkb/O43292/entry"},{"label":"NCBI Gene 8733","url":"https://www.ncbi.nlm.nih.gov/gene/8733"},{"label":"Ensembl ENSG00000197858","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197858"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GPAA1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4446","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4446","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43292","url":"https://www.uniprot.org/uniprotkb/O43292/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen GPAA1","url":"https://www.intogen.org/search?gene=GPAA1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4446","ensembl":"ENSG00000197858","uniprot":"O43292","entrez":"8733","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hiroi et al, FEBS Lett, 1998, \"Molecular cloning of human homolog of yeast GAA1 which is required for attachment of glycosylphosphatidylinositols to proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9468317/","biology":"Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyses the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis. Binds GPI-anchor. Location: Endoplasmic reticulum membrane (UniProt). Locus 8q24.3 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"oncogene","prevalence":[]},{"id":"gpc5","kind":"target","name":"GPC5","aka":["glypican 5","Glypican-5"],"tldr":"GPC5 (Glypican-5) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Ovarian cancer and Biliary tract cancer.","summary":"Cell surface proteoglycan that bears heparan sulfate.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.54, somatic mutation 0.43). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Cholangiocarcinoma, Ovarian Epithelial Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4453","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4453"},{"label":"UniProt P78333","url":"https://www.uniprot.org/uniprotkb/P78333/entry"},{"label":"NCBI Gene 2262","url":"https://www.ncbi.nlm.nih.gov/gene/2262"},{"label":"Ensembl ENSG00000179399","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000179399"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["ovarian","cholangiocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GPC5","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4453","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4453","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78333","url":"https://www.uniprot.org/uniprotkb/P78333/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000179399","url":"https://platform.opentargets.org/target/ENSG00000179399/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"},{"label":"IntOGen GPC5","url":"https://www.intogen.org/search?gene=GPC5","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4453","ensembl":"ENSG00000179399","uniprot":"P78333","entrez":"2262","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Veugelers et al, Genomics, 1997, \"Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9070915/","biology":"Cell surface proteoglycan that bears heparan sulfate. Location: Cell membrane; Secreted, extracellular space (UniProt). Locus 13q31.3 (HGNC).","whereFound":["Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Biliary tract cancer: IntOGen driver in 1 cohort (CHOL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"gpr161","kind":"target","name":"GPR161","aka":["G protein-coupled receptor 161","RE2"],"tldr":"GPR161 (G protein-coupled receptor 161) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Medulloblastoma.","summary":"G protein-coupled receptor that acts as a key inhibitor of the smoothened signalling pathway in primary cilia. Inhibits the smoothened signalling pathway in absence of hedgehog (DHH, IHH or SHH) by promoting formation of the transcription repressor form of GLI2 and GLI3 transcription factors. GPR161 activation triggers signalling via guanine nucleotide-binding protein G(s)/GNAS, mediating activation of adenylate cyclase activity and production of cAMP.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23694","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23694"},{"label":"UniProt Q8N6U8","url":"https://www.uniprot.org/uniprotkb/Q8N6U8/entry"},{"label":"NCBI Gene 23432","url":"https://www.ncbi.nlm.nih.gov/gene/23432"},{"label":"Ensembl ENSG00000143147","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143147"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GPR161","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23694","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23694","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8N6U8","url":"https://www.uniprot.org/uniprotkb/Q8N6U8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143147","url":"https://platform.opentargets.org/target/ENSG00000143147/associations","note":"per-cancer scores at or above 0.5: medulloblastoma 0.64 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:23694","ensembl":"ENSG00000143147","uniprot":"Q8N6U8","entrez":"23432","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Raming et al, Recept. Channels, 1998, \"Identification of a novel G-protein coupled receptor expressed in distinct brain regions and a defined olfactory zone\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9932290/","biology":"G protein-coupled receptor that acts as a key inhibitor of the smoothened signalling pathway in primary cilia. Inhibits the smoothened signalling pathway in absence of hedgehog (DHH, IHH or SHH) by promoting formation of the transcription repressor form of GLI2 and GLI3 transcription factors. GPR161 activation triggers signalling via guanine nucleotide-binding protein G(s)/GNAS, mediating activation of adenylate cyclase activity and production of cAMP. Increased cAMP levels activate PKA, promoting PKA-dependent processing of GLI2 and GLI3 transcription factors, leading to formation of transcription repressor GLI2R and GLI3R, which repress expression of target genes. GPR161 also activates PKA by acting as a PKA-anchoring protein, which directly associates with type I PKA regulatory subunits (PRKAR1A and/or PRKAR1B), recruiting PKA followed by PKA-dependent processing of GLI2 and GLI3 transcription factors. In presence of hedgehog, GPR161 is removed from primary cilia by smoothened (SMO), preventing its activity and allowing activation of the smoothened signalling. Location: Cell projection, cilium membrane; Cell membrane (UniProt). Locus 1q24.2 (HGNC).","whereFound":["Medulloblastoma: Open Targets association 0.64 with medulloblastoma (MONDO_0007959)"],"targetClass":"other","prevalence":[]},{"id":"gprc5d","kind":"target","name":"GPRC5D","aka":[],"tldr":"GPRC5D is a second myeloma target used when BCMA-directed drugs stop working.","summary":"GPRC5D is an orphan class C G-protein-coupled receptor expressed on myeloma cells and on hard keratinised tissue (skin, nails, tongue), which explains the characteristic skin, nail and taste toxicity of drugs directed against it. Expression is high in roughly 60 to 80 percent of myeloma cases and correlates with high-risk disease. Because it is independent of BCMA, it offers a second surface address for patients whose disease has escaped BCMA-directed therapy. Talquetamab, a GPRC5D×CD3 bispecific, is approved; a GPRC5D CAR-T (arlocabtagene autoleucel) is in phase 3. Open questions are how to sequence GPRC5D and BCMA agents and whether antigen loss limits durability. For a newcomer: it is the backup target used when BCMA-directed myeloma drugs stop working.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/GPRC5D","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/GPRC5D"}],"tags":["t-cell-engager-target"],"related":["gprc5d-expression"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":["arlocabtagene-autoleucel"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"GPRC5D","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: 2 cell-killing or cell-finding medicines (Arlocabtagene Autoleucel, Talquetamab) aim at the antigen, which HPA finds stained high in 5 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA GPRC5D: RNA tissue enriched (skin 1 26 nTPM); blood lineage lineage enriched (B-cells 15 nTPM); high antibody staining in 5 normal tissues; highest cancer staining lymphoma (8 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Multiple myeloma); Open Targets associates it with 1 specific cancer type at or above 0.5 (plasma cell myeloma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas GPRC5D tissue","url":"https://www.proteinatlas.org/ENSG00000111291-GPRC5D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas GPRC5D pathology","url":"https://www.proteinatlas.org/ENSG00000111291-GPRC5D/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000111291 associations","url":"https://platform.opentargets.org/target/ENSG00000111291/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13310","ensembl":"ENSG00000111291","uniprot":"Q9NZD1","entrez":"55507","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Braeuner-Osborne et al, Biochim. Biophys. Acta, 2001, \"Cloning and characterization of a human orphan family C G-protein coupled receptor GPRC5D\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11311935/","biology":"GPRC5D is an orphan class C GPCR.","whereFound":["Multiple myeloma"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"multiple-myeloma","pct":"60-80","measure":"High expression by IHC/RNA","source":"https://en.wikipedia.org/wiki/GPRC5D","note":"Expression correlates with high risk"}]},{"id":"grb2","kind":"target","name":"GRB2","aka":["growth factor receptor bound protein 2","Growth factor receptor-bound protein 2","NCKAP2"],"tldr":"GRB2 (Growth factor receptor-bound protein 2) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms and Chronic myeloid leukaemia.","summary":"Non-enzymatic adapter protein that plays a pivotal role in precisely regulated signalling cascades from cell surface receptors to cellular responses, including signalling transduction and gene expression. Thus, participates in many biological processes including regulation of innate and adaptive immunity, autophagy, DNA repair or necroptosis. Controls signalling complexes at the T-cell antigen receptor to facilitate the activation, differentiation, and function of T-cells.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.88, genetic association 0.00, clinical 0.18).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4566","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4566"},{"label":"UniProt P62993","url":"https://www.uniprot.org/uniprotkb/P62993/entry"},{"label":"NCBI Gene 2885","url":"https://www.ncbi.nlm.nih.gov/gene/2885"},{"label":"Ensembl ENSG00000177885","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177885"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","cml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-abl1-signalling","cml-signalling","fgfr-signalling","ras-mapk","rtk-activation"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.18. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GRB2","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4566","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4566","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62993","url":"https://www.uniprot.org/uniprotkb/P62993/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000177885","url":"https://platform.opentargets.org/target/ENSG00000177885/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: chronic myelogenous leukaemia, BCR-ABL1 positive 0.55, myeloproliferative neoplasm 0.59, leukaemia 0.59 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA GRB2: RNA low tissue specificity; high antibody staining in 5 normal tissues; highest cancer staining lymphoma (6 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (chronic myeloid leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas GRB2 tissue","url":"https://www.proteinatlas.org/ENSG00000177885-GRB2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000177885 associations","url":"https://platform.opentargets.org/target/ENSG00000177885/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4566","ensembl":"ENSG00000177885","uniprot":"P62993","entrez":"2885","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lowenstein E.J. et al, Cell, 1992, \"The SH2 and SH3 domain-containing protein GRB2 links receptor tyrosine kinases to ras signaling\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1322798/","biology":"Non-enzymatic adapter protein that plays a pivotal role in precisely regulated signalling cascades from cell surface receptors to cellular responses, including signalling transduction and gene expression. Thus, participates in many biological processes including regulation of innate and adaptive immunity, autophagy, DNA repair or necroptosis. Controls signalling complexes at the T-cell antigen receptor to facilitate the activation, differentiation, and function of T-cells. Mechanistically, engagement of the TCR leads to phosphorylation of the adapter protein LAT, which serves as docking site for GRB2. In turn, GRB2 establishes a a connection with SOS1 that acts as a guanine nucleotide exchange factor and serves as a critical regulator of KRAS/RAF1 leading to MAPKs translocation to the nucleus and activation. Functions also a role in B-cell activation by amplifying Ca(2+) mobilisation and activation of the ERK MAP kinase pathway upon recruitment to the phosphorylated B-cell antigen receptor (BCR). Location: Nucleus; Cytoplasm; Endosome; Golgi apparatus (UniProt). Locus 17q25.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.59 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Chronic myeloid leukaemia: Open Targets association 0.55 with chronic myelogenous leukaemia, BCR-ABL1 positive (MONDO_0011996)"],"targetClass":"other","prevalence":[]},{"id":"grb7","kind":"target","name":"GRB7","aka":["growth factor receptor bound protein 7"],"tldr":"GRB7 is an adaptor protein gene that sits next to HER2 on chromosome 17 and is copied along with it in HER2-positive cancers.","summary":"17q12 HER2 amplicon neighbour: co-amplified and co-expressed with ERBB2 in HER2-positive breast and gastric cancer, so it appears in HER2-enriched expression signatures as a passenger of the amplification rather than a driver of its own. UniProt describes GRB7 as an adapter that interacts with numerous receptor kinases and promotes activation of STAT3, AKT and MAPK; it is one of the genes in the Oncotype DX HER2 group.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:4567","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4567"},{"label":"UniProt Q14451","url":"https://www.uniprot.org/uniprotkb/Q14451/entry"}],"tags":["cansim-terms"],"related":["her2"],"cancers":["breast-cancer","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor"],"terms":["co-amplification","cancer-ai-vocabulary"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"GRB7","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4567","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4567","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt Q14451","url":"https://www.uniprot.org/uniprotkb/Q14451/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:4567","ensembl":"ENSG00000141738","uniprot":"Q14451","entrez":"2886","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kishi et al, Biochem. Biophys. Res. Commun, 1997, \"Molecular cloning of human GRB-7 co-amplified with CAB1 and c-ERBB-2 in primary gastric cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9125150/","biology":"Adapter protein that binds the cytoplasmic domain of receptor kinases and modulates downstream signalling, promoting activation of STAT3, AKT1 and MAPK1/3 and of HRAS (UniProt Q14451).","whereFound":["Locus 17q12 (HGNC)."],"targetClass":"other","prevalence":[]},{"id":"grem1","kind":"target","name":"GREM1","aka":["gremlin 1, DAN family BMP antagonist","Gremlin-1","gremlin","DAND2","CKTSF1B1","CRAC1"],"tldr":"GREM1 (Gremlin-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signalling in a dose-dependent manner. Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro).\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.98, animal model 0.38, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2001","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2001"},{"label":"UniProt O60565","url":"https://www.uniprot.org/uniprotkb/O60565/entry"},{"label":"NCBI Gene 26585","url":"https://www.ncbi.nlm.nih.gov/gene/26585"},{"label":"Ensembl ENSG00000166923","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166923"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GREM1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2001","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2001","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60565","url":"https://www.uniprot.org/uniprotkb/O60565/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000166923","url":"https://platform.opentargets.org/target/ENSG00000166923/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: colorectal cancer 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2001","ensembl":"ENSG00000166923","uniprot":"O60565","entrez":"26585","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hsu D.R. et al, Mol. Cell, 1998, \"The Xenopus dorsalizing factor Gremlin identifies a novel family of secreted proteins that antagonize BMP activities\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9660951/","biology":"Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signalling in a dose-dependent manner. Antagonist of BMP2; inhibits BMP2-mediated differentiation of osteoblasts (in vitro). Acts as inhibitor of monocyte chemotaxis. Can inhibit the growth or viability of normal cells but not transformed cells when is overexpressed. Location: Secreted (UniProt). Locus 15q13.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"grhl2","kind":"target","name":"GRHL2","aka":["grainyhead like transcription factor 2","Grainyhead-like protein 2 homolog","FLJ13782","DFNA28","TFCP2L3"],"tldr":"GRHL2 (Grainyhead-like protein 2 homolog) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Transcription factor playing an important role in primary neurulation and in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes. During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.32, genetic association 0.60).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2799"},{"label":"UniProt Q6ISB3","url":"https://www.uniprot.org/uniprotkb/Q6ISB3/entry"},{"label":"NCBI Gene 79977","url":"https://www.ncbi.nlm.nih.gov/gene/79977"},{"label":"Ensembl ENSG00000083307","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083307"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GRHL2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2799","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6ISB3","url":"https://www.uniprot.org/uniprotkb/Q6ISB3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000083307","url":"https://platform.opentargets.org/target/ENSG00000083307/associations","note":"association with cancer (MONDO_0004992) 0.52; per-cancer scores at or above 0.5: breast cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2799","ensembl":"ENSG00000083307","uniprot":"Q6ISB3","entrez":"79977","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Transcription factor playing an important role in primary neurulation and in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes. During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure. Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localisation at tight junctions. Location: Nucleus; Membrane (UniProt). Locus 8q22.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"grhpr","kind":"target","name":"GRHPR","aka":["glyoxylate and hydroxypyruvate reductase","Glyoxylate reductase/hydroxypyruvate reductase","PH2"],"tldr":"GRHPR (Glyoxylate reductase/hydroxypyruvate reductase) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate, oxidises D-glycerate to hydroxypyruvate.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4570","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4570"},{"label":"UniProt Q9UBQ7","url":"https://www.uniprot.org/uniprotkb/Q9UBQ7/entry"},{"label":"NCBI Gene 9380","url":"https://www.ncbi.nlm.nih.gov/gene/9380"},{"label":"Ensembl ENSG00000137106","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137106"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GRHPR","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4570","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4570","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UBQ7","url":"https://www.uniprot.org/uniprotkb/Q9UBQ7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GRHPR","url":"https://civicdb.org/features/7411","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA GRHPR: RNA tissue enhanced (liver 610 nTPM); high antibody staining in 5 normal tissues; highest cancer staining thyroid cancer (3 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas GRHPR tissue","url":"https://www.proteinatlas.org/ENSG00000137106-GRHPR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137106 associations","url":"https://platform.opentargets.org/target/ENSG00000137106/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4570","ensembl":"ENSG00000137106","uniprot":"Q9UBQ7","entrez":"9380","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Liu et al, 1998.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9UBQ7/entry","biology":"Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate, oxidises D-glycerate to hydroxypyruvate. Locus 9p13.2 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"grin2a","kind":"target","name":"GRIN2A","aka":["glutamate ionotropic receptor NMDA type subunit 2A","Glutamate receptor ionotropic, NMDA 2A","GluN2A","NR2A","NMDAR2A"],"tldr":"GRIN2A (Glutamate receptor ionotropic, NMDA 2A) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Lung cancer, Skin cancer and 5 more.","summary":"Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning. Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarisation to eliminate channel inhibition by Mg(2+).\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes clinical 0.59, literature 0.41, genetic association 0.49, somatic mutation 0.87, animal model 0.32). IntOGen calls it a driver in 6 cohorts (4 activating, 0 loss-of-function), covering Bladder Urothelial Carcinoma, Cholangiocarcinoma, Colorectal Adenocarcinoma, Malignant Tumour, Pancreas.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4585"},{"label":"UniProt Q12879","url":"https://www.uniprot.org/uniprotkb/Q12879/entry"},{"label":"NCBI Gene 2903","url":"https://www.ncbi.nlm.nih.gov/gene/2903"},{"label":"Ensembl ENSG00000183454","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183454"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","lung-cancer","skin-cancer","urothelial","pancreatic","breast-cancer","prostate","biliary-tract-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.59; IntOGen calls it an activating (Act) driver in 4 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GRIN2A","role":["drug-target","oncogene-driver","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4585","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12879","url":"https://www.uniprot.org/uniprotkb/Q12879/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000183454","url":"https://platform.opentargets.org/target/ENSG00000183454/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: prostate cancer 0.51, melanoma 0.59, skin cancer 0.57, breast cancer 0.57, lung cancer 0.58, biliary tract cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen GRIN2A","url":"https://www.intogen.org/search?gene=GRIN2A","note":"driver in 6 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA GRIN2A: RNA tissue enriched (brain 15 nTPM); high antibody staining in 1 normal tissue. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types), Skin cancer (all types), Bladder & urothelial cancer, Pancreatic ductal adenocarcinoma, Breast cancer (all types), Prostate cancer and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q12879","url":"https://www.uniprot.org/uniprotkb/Q12879/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen GRIN2A","url":"https://www.intogen.org/search?gene=GRIN2A","note":"driver in 6 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas GRIN2A tissue","url":"https://www.proteinatlas.org/ENSG00000183454-GRIN2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183454 associations","url":"https://platform.opentargets.org/target/ENSG00000183454/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4585","ensembl":"ENSG00000183454","uniprot":"Q12879","entrez":"2903","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Foldes R.L. et al, Biochim. Biophys. Acta, 1994, \"Human N-methyl-D-aspartate receptor modulatory subunit hNR2A: cloning and sequencing of the cDNA and primary structure of the protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8061049/","biology":"Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+). NMDARs participate in synaptic plasticity for learning and memory formation by contributing to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning. Channel activation requires binding of the neurotransmitter L-glutamate to the GluN2 subunit, glycine or D-serine binding to the GluN1 subunit, plus membrane depolarisation to eliminate channel inhibition by Mg(2+). NMDARs mediate simultaneously the potassium efflux and the influx of calcium and sodium. Each GluN2 subunit confers differential attributes to channel properties, including activation, deactivation and desensitisation kinetics, pH sensitivity, Ca2(+) permeability, and binding to allosteric modulators. Participates in the synaptic plasticity regulation through activation by the L-glutamate releaseed by BEST1, into the synaptic cleft, upon F2R/PAR-1 activation in astrocyte. Location: Cell projection, dendritic spine; Cell membrane; Synapse; Postsynaptic cell membrane (UniProt). Locus 16p13.2 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 2 cohorts (COADREAD)","Lung cancer: Open Targets association 0.58 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PANCREAS)","Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254)"],"targetClass":"oncogene","prevalence":[]},{"id":"grm3","kind":"target","name":"GRM3","aka":["glutamate metabotropic receptor 3","Metabotropic glutamate receptor 3","GPRC1C","mGlu3","MGLUR3"],"tldr":"GRM3 (Metabotropic glutamate receptor 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Renal cell carcinoma, Oesophageal cancer, Chromophobe renal cell carcinoma and 2 more.","summary":"G protein-coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signalling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signalling inhibits adenylate cyclase activity.\n\nIntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Chromophobe Renal Cell Carcinoma, Oesophageal Adenocarcinoma, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4595","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4595"},{"label":"UniProt Q14832","url":"https://www.uniprot.org/uniprotkb/Q14832/entry"},{"label":"NCBI Gene 2913","url":"https://www.ncbi.nlm.nih.gov/gene/2913"},{"label":"Ensembl ENSG00000198822","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198822"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["rcc","esophageal","chromophobe-rcc","oesophageal-adenocarcinoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GRM3","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4595","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4595","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14832","url":"https://www.uniprot.org/uniprotkb/Q14832/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen GRM3","url":"https://www.intogen.org/search?gene=GRM3","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4595","ensembl":"ENSG00000198822","uniprot":"Q14832","entrez":"2913","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Makoff et al, Brain Res. Mol. Brain Res, 1996, \"Molecular characterization and localization of human metabotropic glutamate receptor type 3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8840013/","biology":"G protein-coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signalling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signalling inhibits adenylate cyclase activity. Location: Cell membrane (UniProt). Locus 7q21.11-q21.12 (HGNC).","whereFound":["Renal cell carcinoma: IntOGen driver in 1 cohort (CHRCC)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Chromophobe renal cell carcinoma: IntOGen driver in 1 cohort (CHRCC)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)","Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"grpr","kind":"target","name":"GRPR (gastrin-releasing peptide receptor)","aka":[],"tldr":"GRPR is a hormone receptor abundant in early and hormone-sensitive prostate cancer, imaged and treated with bombesin-like radioligands.","summary":"The gastrin-releasing peptide receptor (GRPR) is a G-protein-coupled receptor for bombesin and GRP whose expression is high in hormone-sensitive prostate cancer and falls with castration resistance. It is overexpressed in primary and hormone-naive prostate cancer, often in PSMA-negative tumours, as well as in ER-positive breast cancer and GIST, which makes it a complementary theranostic target to PSMA. Bombesin-like radioligands exploit it: 68Ga-RM2 PET for imaging and 177Lu-NeoB (Novartis) for therapy are in clinical trials. Because expression declines as disease becomes castration-resistant, GRPR agents may suit earlier disease or PSMA-negative patients rather than replacing PSMA therapy. A newcomer can think of GRPR as a second radioactive address on prostate cancer, useful where PSMA is dim.","asOf":"2026-09-06","wikipedia":"https://en.wikipedia.org/wiki/Gastrin-releasing_peptide_receptor","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Gastrin-releasing_peptide_receptor"}],"tags":["theranostic"],"related":[],"cancers":["prostate","breast-hr-positive"],"sections":[],"technologies":["radioligand-therapy","pet"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"GRPR","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:4609","ensembl":"ENSG00000126010","uniprot":"P30550","entrez":"2925","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Corjay M.H. et al, J. Biol. Chem, 1991, \"Two distinct bombesin receptor subtypes are expressed and functional in human lung carcinoma cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1655761/","biology":"G-protein-coupled receptor for bombesin/GRP; expression falls with castration resistance.","whereFound":["Hormone-sensitive prostate cancer","ER+ breast cancer","GIST"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"prostate","pct":100,"measure":"Receptor autoradiography, GRPR in 30 of 30 invasive prostate carcinomas","source":"https://pubmed.ncbi.nlm.nih.gov/10070977/","note":"Markwalder and Reubi 1999 (Cancer Res); receptor density was high in carcinoma and PIN and low or absent in normal and hyperplastic prostate"}]},{"id":"gsk3b","kind":"target","name":"GSK3B","aka":["glycogen synthase kinase 3 beta","Glycogen synthase kinase-3 beta"],"tldr":"GSK3B (Glycogen synthase kinase-3 beta) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a tumour suppressor, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signalling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1, DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requires primed phosphorylation of the majority of its substrates. In skeletal muscle, contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes clinical 0.20, affected pathway 0.89, literature 1.00, genetic association 0.39, somatic mutation 0.44, animal model 0.58). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4617","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4617"},{"label":"UniProt P49841","url":"https://www.uniprot.org/uniprotkb/P49841/entry"},{"label":"NCBI Gene 2932","url":"https://www.ncbi.nlm.nih.gov/gene/2932"},{"label":"Ensembl ENSG00000082701","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000082701"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.20; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GSK3B","role":["drug-target","tumour-suppressor"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4617","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4617","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49841","url":"https://www.uniprot.org/uniprotkb/P49841/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000082701","url":"https://platform.opentargets.org/target/ENSG00000082701/associations","note":"association with cancer (MONDO_0004992) 0.67;  (GraphQL API, CC0)"},{"label":"IntOGen GSK3B","url":"https://www.intogen.org/search?gene=GSK3B","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA GSK3B: RNA low tissue specificity; high antibody staining in 4 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P49841","url":"https://www.uniprot.org/uniprotkb/P49841/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen GSK3B","url":"https://www.intogen.org/search?gene=GSK3B","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas GSK3B tissue","url":"https://www.proteinatlas.org/ENSG00000082701-GSK3B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000082701 associations","url":"https://platform.opentargets.org/target/ENSG00000082701/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4617","ensembl":"ENSG00000082701","uniprot":"P49841","entrez":"2932","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stambolic et al, Biochem. J, 1994, \"Mitogen inactivation of glycogen synthase kinase-3 beta in intact cells via serine 9 phosphorylation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7980435/","biology":"Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signalling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), EIF2B, CTNNB1/beta-catenin, APC, AXIN1, DPYSL2/CRMP2, JUN, NFATC1/NFATC, MAPT/TAU and MACF1. Requires primed phosphorylation of the majority of its substrates. In skeletal muscle, contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. May also mediate the development of insulin resistance by regulating activation of transcription factors. Regulates protein synthesis by controlling the activity of initiation factor 2B (EIF2BE/EIF2B5) in the same manner as glycogen synthase. In Wnt signalling, GSK3B forms a multimeric complex with APC, AXIN1 and CTNNB1/beta-catenin and phosphorylates the N-terminus of CTNNB1 leading to its degradation mediated by ubiquitin/proteasomes. Location: Cytoplasm; Nucleus; Cell membrane (UniProt). Locus 3q13.33 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"kinase","prevalence":[]},{"id":"gstp1","kind":"target","name":"GSTP1","aka":["glutathione S-transferase pi 1","Glutathione S-transferase P","FAEES3","GST3"],"tldr":"GSTP1 (Glutathione S-transferase P) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Ovarian cancer.","summary":"Catalyses conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Involved in the formation of glutathione conjugates of both prostaglandin A2 (PGA2) and prostaglandin J2 (PGJ2). Participates in the formation of novel hepoxilin regioisomers.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 3 variants, naming Paclitaxel, Carboplatin, Cisplatin and FOLFOX Regimen.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4638","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4638"},{"label":"UniProt P09211","url":"https://www.uniprot.org/uniprotkb/P09211/entry"},{"label":"NCBI Gene 2950","url":"https://www.ncbi.nlm.nih.gov/gene/2950"},{"label":"Ensembl ENSG00000084207","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000084207"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GSTP1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4638","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4638","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09211","url":"https://www.uniprot.org/uniprotkb/P09211/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene GSTP1","url":"https://civicdb.org/features/2473","note":"2 evidence items, 0 assertions, 3 variants; diseases: Colorectal Cancer, Ovarian Carcinoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA GSTP1: RNA tissue enhanced (esophagus 2,859 nTPM); high antibody staining in 8 normal tissues; highest cancer staining breast cancer (1 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas GSTP1 tissue","url":"https://www.proteinatlas.org/ENSG00000084207-GSTP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000084207 associations","url":"https://platform.opentargets.org/target/ENSG00000084207/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4638","ensembl":"ENSG00000084207","uniprot":"P09211","entrez":"2950","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Alin et al, FEBS Lett, 1985, \"Structural evidence for three different types of glutathione transferase in human tissues\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3979555/","biology":"Catalyses conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Involved in the formation of glutathione conjugates of both prostaglandin A2 (PGA2) and prostaglandin J2 (PGJ2). Participates in the formation of novel hepoxilin regioisomers. Acts as a negative regulator of ferroptosis by mediating glutathione conjugation and detoxification of 4-hydroxynonenal (4-HNE) reactive aldehyde. Negatively regulates CDK5 activity via p25/p35 translocation to prevent neurodegeneration. Location: Cytoplasm; Mitochondrion; Nucleus (UniProt). Locus 11q13.2 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"gtf2i","kind":"target","name":"GTF2I","aka":["general transcription factor IIi","General transcription factor II-I","TFII-I","BAP-135","BTKAP1","IB291","WBSCR6"],"tldr":"GTF2I (General transcription factor II-I) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Thymoma.","summary":"Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Thymoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4659","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4659"},{"label":"UniProt P78347","url":"https://www.uniprot.org/uniprotkb/P78347/entry"},{"label":"NCBI Gene 2969","url":"https://www.ncbi.nlm.nih.gov/gene/2969"},{"label":"Ensembl ENSG00000263001","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000263001"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["thymoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"GTF2I","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4659","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4659","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78347","url":"https://www.uniprot.org/uniprotkb/P78347/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen GTF2I","url":"https://www.intogen.org/search?gene=GTF2I","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4659","ensembl":"ENSG00000263001","uniprot":"P78347","entrez":"2969","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Roy A.L. et al, EMBO J, 1997, \"Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9384587/","biology":"Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation. Location: Cytoplasm; Nucleus (UniProt). Locus 7q11.23 (HGNC).","whereFound":["Thymoma: IntOGen driver in 1 cohort (THYM)"],"targetClass":"oncogene","prevalence":[]},{"id":"h1-2","kind":"target","name":"H1-2","aka":["H1.2 linker histone, cluster member","Histone H1.2","H1.2","H1s-1","H1c","H1F2","HIST1H1C"],"tldr":"H1-2 (Histone H1.2) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fibre. Histone H1-2 is required for the condensation of nucleosome chains into higher-order structured fibres. Compared to other histone H1 variants, H1-2 plays an essential role in nucleosome condensation: its absence leads to global chromatin decompaction, which is not observed when depleting other histone H1 variants.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4716","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4716"},{"label":"UniProt P16403","url":"https://www.uniprot.org/uniprotkb/P16403/entry"},{"label":"NCBI Gene 3006","url":"https://www.ncbi.nlm.nih.gov/gene/3006"},{"label":"Ensembl ENSG00000187837","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187837"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H1-2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4716","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4716","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16403","url":"https://www.uniprot.org/uniprotkb/P16403/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H1-2","url":"https://civicdb.org/features/2526","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists H1-2 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA H1-2: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 460 nTPM); high antibody staining in 45 normal tissues; highest cancer staining breast cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas H1-2 tissue","url":"https://www.proteinatlas.org/ENSG00000187837-H1-2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187837 associations","url":"https://platform.opentargets.org/target/ENSG00000187837/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4716","ensembl":"ENSG00000187837","uniprot":"P16403","entrez":"3006","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Eick et al, Eur. J. Cell Biol, 1989, \"Human H1 histones: conserved and varied sequence elements in two H1 subtype genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2759094/","biology":"Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fibre. Histone H1-2 is required for the condensation of nucleosome chains into higher-order structured fibres. Compared to other histone H1 variants, H1-2 plays an essential role in nucleosome condensation: its absence leads to global chromatin decompaction, which is not observed when depleting other histone H1 variants. Histone H1-2 also acts as a histone reader: specifically recognises and binds histone H3 trimethylated at 'lys-27' (H3K27me3). Histones H1 also promote formation of the H3K27me3 mark by the PRC2/EED-EZH2 complex, possibly by facilitating restoration of H3K27me3 post-replication. Together with histone H1-3, histone H1-2 acts as a regulator of splicing, most specifically exon skipping and intron retention events: histone H1-2 has a high affinity for exons and regulates splicing by affecting RNA polymerase II (RNAPII) elongation. Location: Nucleus; Nucleus, nucleolus; Chromosome (UniProt). Locus 6p22.2 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"h1-3","kind":"target","name":"H1-3","aka":["H1.3 linker histone, cluster member","Histone H1.3","H1.3","H1d","H1s-2","H1F3","HIST1H1D"],"tldr":"H1-3 (Histone H1.3) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fibre. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibres and promote formation of the H3K27me3 mark by the PRC2/EED-EZH2 complex. Together with histone H1-3, histone H1-3 acts as a regulator of splicing, most specifically exon skipping and intron retention events: histone H1-3 has a high affinity for introns and regulates splicing by affecting RNA polymerase II (RNAPII) elongation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4717","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4717"},{"label":"UniProt P16402","url":"https://www.uniprot.org/uniprotkb/P16402/entry"},{"label":"NCBI Gene 3007","url":"https://www.ncbi.nlm.nih.gov/gene/3007"},{"label":"Ensembl ENSG00000124575","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124575"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H1-3","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4717","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4717","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16402","url":"https://www.uniprot.org/uniprotkb/P16402/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H1-3","url":"https://civicdb.org/features/2527","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA H1-3: RNA tissue enhanced (bone marrow 20 nTPM, choroid plexus 7 nTPM); high antibody staining in 29 normal tissues; highest cancer staining lymphoma (9 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas H1-3 tissue","url":"https://www.proteinatlas.org/ENSG00000124575-H1-3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000124575 associations","url":"https://platform.opentargets.org/target/ENSG00000124575/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4717","ensembl":"ENSG00000124575","uniprot":"P16402","entrez":"3007","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohe et al, J. Biochem, 1989, \"Human spleen histone H1. Isolation and amino acid sequences of three minor variants, H1a, H1c, and H1d\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2613692/","biology":"Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fibre. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibres and promote formation of the H3K27me3 mark by the PRC2/EED-EZH2 complex. Together with histone H1-3, histone H1-3 acts as a regulator of splicing, most specifically exon skipping and intron retention events: histone H1-3 has a high affinity for introns and regulates splicing by affecting RNA polymerase II (RNAPII) elongation. Also acts as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation. Location: Nucleus; Chromosome (UniProt). Locus 6p22.2 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"h1-5","kind":"target","name":"H1-5","aka":["H1.5 linker histone, cluster member","Histone H1.5","H1b","H1s-3","H1F5","HIST1H1B"],"tldr":"H1-5 (Histone H1.5) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fibre. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibres and promote formation of the H3K27me3 mark by the PRC2/EED-EZH2 complex. Also acts as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4719","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4719"},{"label":"UniProt P16401","url":"https://www.uniprot.org/uniprotkb/P16401/entry"},{"label":"NCBI Gene 3009","url":"https://www.ncbi.nlm.nih.gov/gene/3009"},{"label":"Ensembl ENSG00000184357","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184357"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H1-5","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4719","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4719","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16401","url":"https://www.uniprot.org/uniprotkb/P16401/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H1-5","url":"https://civicdb.org/features/2529","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA H1-5: RNA group enriched (bone marrow 7 nTPM, lymphoid tissue 2 nTPM); blood lineage group enriched (B-cells 10 nTPM, dendritic cells 12 nTPM, T-cells 3 nTPM); high antibody staining in 24 normal tissues; highest cancer staining endometrial cancer (11 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas H1-5 tissue","url":"https://www.proteinatlas.org/ENSG00000184357-H1-5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184357 associations","url":"https://platform.opentargets.org/target/ENSG00000184357/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4719","ensembl":"ENSG00000184357","uniprot":"P16401","entrez":"3009","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohe et al, J. Biochem, 1989, \"Human spleen histone H1. Isolation and amino acid sequences of three minor variants, H1a, H1c, and H1d\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2613692/","biology":"Histone H1 protein binds to linker DNA between nucleosomes forming the macromolecular structure known as the chromatin fibre. Histones H1 are necessary for the condensation of nucleosome chains into higher-order structured fibres and promote formation of the H3K27me3 mark by the PRC2/EED-EZH2 complex. Also acts as a regulator of individual gene transcription through chromatin remodeling, nucleosome spacing and DNA methylation. Location: Nucleus; Chromosome (UniProt). Locus 6p22.1 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"h2ac17","kind":"target","name":"H2AC17","aka":["H2A clustered histone 17","Histone H2A type 1","H2A/n","H2A.1","H2AFN","HIST1H2AM"],"tldr":"H2AC17 (Histone H2A type 1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4735","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4735"},{"label":"UniProt P0C0S8","url":"https://www.uniprot.org/uniprotkb/P0C0S8/entry"},{"label":"NCBI Gene 8336","url":"https://www.ncbi.nlm.nih.gov/gene/8336"},{"label":"Ensembl ENSG00000278677","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000278677"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H2AC17","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4735","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4735","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0C0S8","url":"https://www.uniprot.org/uniprotkb/P0C0S8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H2AC17","url":"https://civicdb.org/features/6592","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists H2AC17 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA H2AC17: RNA tissue enhanced (bone marrow 3 nTPM); high antibody staining in 13 normal tissues; highest cancer staining glioma (10 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas H2AC17 tissue","url":"https://www.proteinatlas.org/ENSG00000278677-H2AC17/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000278677 associations","url":"https://platform.opentargets.org/target/ENSG00000278677/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4735","ensembl":"ENSG00000278677","uniprot":"P0C0S8","entrez":"8336","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dobner et al, DNA Seq, 1991, \"A novel divergently transcribed human histone H2A/H2B gene pair\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1768865/","biology":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Location: Nucleus; Chromosome (UniProt). Locus 6p22.1 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"h2ac6","kind":"target","name":"H2AC6","aka":["H2A clustered histone 6","Histone H2A type 1-C","H2AFL","HIST1H2AC"],"tldr":"H2AC6 (Histone H2A type 1-C) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4733","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4733"},{"label":"UniProt Q93077","url":"https://www.uniprot.org/uniprotkb/Q93077/entry"},{"label":"NCBI Gene 8334","url":"https://www.ncbi.nlm.nih.gov/gene/8334"},{"label":"Ensembl ENSG00000180573","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000180573"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H2AC6","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4733","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4733","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q93077","url":"https://www.uniprot.org/uniprotkb/Q93077/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H2AC6","url":"https://civicdb.org/features/6590","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists H2AC6 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA H2AC6: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 1,567 nTPM); high antibody staining in 13 normal tissues; highest cancer staining glioma (10 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas H2AC6 tissue","url":"https://www.proteinatlas.org/ENSG00000180573-H2AC6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000180573 associations","url":"https://platform.opentargets.org/target/ENSG00000180573/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4733","ensembl":"ENSG00000180573","uniprot":"Q93077","entrez":"8334","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ruddy D.A. et al, Genome Res, 1997, \"A 1.1-Mb transcript map of the hereditary hemochromatosis locus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9149941/","biology":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Location: Nucleus; Chromosome (UniProt). Locus 6p22.2 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"h2bc12","kind":"target","name":"H2BC12","aka":["H2B clustered histone 12","Histone H2B type 1-K","H2BFAiii","H2BFT","HIST1H2BK"],"tldr":"H2BC12 (Histone H2B type 1-K) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13954","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13954"},{"label":"UniProt O60814","url":"https://www.uniprot.org/uniprotkb/O60814/entry"},{"label":"NCBI Gene 85236","url":"https://www.ncbi.nlm.nih.gov/gene/85236"},{"label":"Ensembl ENSG00000197903","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197903"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H2BC12","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13954","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13954","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60814","url":"https://www.uniprot.org/uniprotkb/O60814/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H2BC12","url":"https://civicdb.org/features/16516","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists H2BC12 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA H2BC12: RNA low tissue specificity; high antibody staining in 44 normal tissues; highest cancer staining glioma (11 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas H2BC12 tissue","url":"https://www.proteinatlas.org/ENSG00000197903-H2BC12/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197903 associations","url":"https://platform.opentargets.org/target/ENSG00000197903/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13954","ensembl":"ENSG00000197903","uniprot":"O60814","entrez":"85236","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Frohm et al, Eur. J. Biochem, 1996, \"Biochemical and antibacterial analysis of human wound and blister fluid\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8620898/","biology":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Has broad antibacterial activity. May contribute to the formation of the functional antimicrobial barrier of the colonic epithelium, and to the bactericidal activity of amniotic fluid. Location: Nucleus; Chromosome (UniProt). Locus 6p22.1 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"h2bc5","kind":"target","name":"H2BC5","aka":["H2B clustered histone 5","Histone H2B type 1-D","H2B/b","H2BFB","HIST1H2BD"],"tldr":"H2BC5 (Histone H2B type 1-D) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4747","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4747"},{"label":"UniProt P58876","url":"https://www.uniprot.org/uniprotkb/P58876/entry"},{"label":"NCBI Gene 3017","url":"https://www.ncbi.nlm.nih.gov/gene/3017"},{"label":"Ensembl ENSG00000158373","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158373"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H2BC5","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4747","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4747","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P58876","url":"https://www.uniprot.org/uniprotkb/P58876/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H2BC5","url":"https://civicdb.org/features/2535","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists H2BC5 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA H2BC5: RNA low tissue specificity; high antibody staining in 44 normal tissues; highest cancer staining glioma (11 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas H2BC5 tissue","url":"https://www.proteinatlas.org/ENSG00000158373-H2BC5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000158373 associations","url":"https://platform.opentargets.org/target/ENSG00000158373/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4747","ensembl":"ENSG00000158373","uniprot":"P58876","entrez":"3017","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Albig et al, Genomics, 1991, \"Isolation and characterization of two human H1 histone genes within clusters of core histone genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1916825/","biology":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Location: Nucleus; Chromosome (UniProt). Locus 6p22.2 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"h3-3b","kind":"target","name":"H3-3B","aka":["H3.3 histone B","Histone H3.3","H3.3B","H3F3B"],"tldr":"H3-3B (Histone H3.3) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Melanoma and Diffuse midline glioma, H3 K27-altered.","summary":"Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. Constitutes the predominant form of histone H3 in non-dividing cells and is incorporated into chromatin independently of DNA synthesis. Deposited at sites of nucleosomal displacement throughout transcribed genes, suggesting that it represents an epigenetic imprint of transcriptionally active chromatin.\n\nCIViC holds 2 clinical evidence items and 1 assertion across 3 variants. Open Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.28, affected pathway 0.76, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4765","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4765"},{"label":"UniProt P84243","url":"https://www.uniprot.org/uniprotkb/P84243/entry"},{"label":"NCBI Gene 3021","url":"https://www.ncbi.nlm.nih.gov/gene/3021"},{"label":"Ensembl ENSG00000132475","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132475"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["skin-cancer","melanoma","dipg-dmg"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Chondroblastoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H3-3B","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4765","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4765","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P84243","url":"https://www.uniprot.org/uniprotkb/P84243/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H3-3B","url":"https://civicdb.org/features/2538","note":"2 evidence items, 1 assertions, 3 variants; diseases: Chondroblastoma, Diffuse Midline Glioma, H3 K27-altered (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000132475","url":"https://platform.opentargets.org/target/ENSG00000132475/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: melanoma 0.63, skin cancer 0.55 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA H3-3B: RNA tissue enhanced (bone marrow 3,984 nTPM); blood lineage lineage enriched (granulocytes 21,236 nTPM); high antibody staining in 45 normal tissues; highest cancer staining glioma (12 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Brain and spinal cord tumours (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (glioma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas H3-3B tissue","url":"https://www.proteinatlas.org/ENSG00000132475-H3-3B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000132475 associations","url":"https://platform.opentargets.org/target/ENSG00000132475/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4765","ensembl":"ENSG00000132475","uniprot":"P84243","entrez":"3021","firstDescribed":1981,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohe et al, J. Biochem, 1981, \"Human spleen histone H3. Isolation and amino acid sequence\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7309716/","biology":"Variant histone H3 which replaces conventional H3 in a wide range of nucleosomes in active genes. Constitutes the predominant form of histone H3 in non-dividing cells and is incorporated into chromatin independently of DNA synthesis. Deposited at sites of nucleosomal displacement throughout transcribed genes, suggesting that it represents an epigenetic imprint of transcriptionally active chromatin. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Location: Nucleus; Chromosome (UniProt). Locus 17q25.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.63 with melanoma (MONDO_0005105)","Diffuse midline glioma, H3 K27-altered: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"h3c14","kind":"target","name":"H3C14","aka":["H3 clustered histone 14","Histone H3.2","MGC9629","H3/m","H3","H3.2","H3/M","H3F2","H3FM","HIST2H3C"],"tldr":"H3C14 (Histone H3.2) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse midline glioma, H3 K27-altered.","summary":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20503","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20503"},{"label":"UniProt Q71DI3","url":"https://www.uniprot.org/uniprotkb/Q71DI3/entry"},{"label":"NCBI Gene 126961","url":"https://www.ncbi.nlm.nih.gov/gene/126961"},{"label":"Ensembl ENSG00000203811","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000203811"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dipg-dmg"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H3C14","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:20503","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20503","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q71DI3","url":"https://www.uniprot.org/uniprotkb/Q71DI3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H3C14","url":"https://civicdb.org/features/17939","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Midline Glioma, H3 K27-altered (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA H3C14: RNA tissue enhanced (bone marrow 1 nTPM, brain 2 nTPM, prostate 2 nTPM); high antibody staining in 44 normal tissues; highest cancer staining glioma (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas H3C14 tissue","url":"https://www.proteinatlas.org/ENSG00000203811-H3C14/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000203811 associations","url":"https://platform.opentargets.org/target/ENSG00000203811/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20503","ensembl":"ENSG00000203811","uniprot":"Q71DI3","entrez":"126961","firstDescribed":1981,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohe et al, J. Biochem, 1981, \"Human spleen histone H3. Isolation and amino acid sequence\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7309716/","biology":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Location: Nucleus; Chromosome (UniProt). Locus 1q21.2 (HGNC).","whereFound":["Diffuse midline glioma, H3 K27-altered: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"h3c2","kind":"target","name":"H3C2","aka":["H3 clustered histone 2","Histone H3.1","H3/l","H3FL","HIST1H3B"],"tldr":"H3C2 (Histone H3.1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Bladder & urothelial cancer, Oesophageal cancer and 5 more.","summary":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability.\n\nCIViC holds 7 clinical evidence items and 1 assertion across 1 variant. Open Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.04, affected pathway 0.76, somatic mutation 0.78). IntOGen calls it a driver in 5 cohorts (4 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4776"},{"label":"UniProt P68431","url":"https://www.uniprot.org/uniprotkb/P68431/entry"},{"label":"NCBI Gene 8358","url":"https://www.ncbi.nlm.nih.gov/gene/8358"},{"label":"Ensembl ENSG00000286522","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000286522"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","urothelial","esophageal","non-hodgkin-lymphoma","dipg-dmg","glioblastoma","dlbcl","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 7 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Anaplastic Astrocytoma; Brain Glioblastoma Multiforme; Diffuse Astrocytoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H3C2","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4776","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P68431","url":"https://www.uniprot.org/uniprotkb/P68431/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H3C2","url":"https://civicdb.org/features/6614","note":"7 evidence items, 1 assertions, 1 variants; diseases: Diffuse Midline Glioma, H3 K27-altered, Glioblastoma, Anaplastic Astrocytoma, Brain Glioblastoma Multiforme, Diffuse Astrocytoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000286522","url":"https://platform.opentargets.org/target/ENSG00000286522/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.51, breast cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen H3C2","url":"https://www.intogen.org/search?gene=H3C2","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA H3C2: RNA group enriched (bone marrow 6 nTPM, lymphoid tissue 2 nTPM); high antibody staining in 44 normal tissues; highest cancer staining glioma (12 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Bladder & urothelial cancer, Oesophageal cancer, Lymphoma, Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P68431","url":"https://www.uniprot.org/uniprotkb/P68431/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H3C2","url":"https://civicdb.org/features/6614","note":"7 evidence items, 1 assertions, 1 variants; diseases: Diffuse Midline Glioma, H3 K27-altered, Glioblastoma, Anaplastic Astrocytoma, Brain Glioblastoma Multiforme, Diffuse Astrocytoma (GraphQL API, CC0)"},{"label":"IntOGen H3C2","url":"https://www.intogen.org/search?gene=H3C2","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas H3C2 tissue","url":"https://www.proteinatlas.org/ENSG00000286522-H3C2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000286522 associations","url":"https://platform.opentargets.org/target/ENSG00000286522/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4776","ensembl":"ENSG00000286522","uniprot":"P68431","entrez":"8358","firstDescribed":1981,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohe et al, J. Biochem, 1981, \"Human spleen histone H3. Isolation and amino acid sequence\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7309716/","biology":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Location: Nucleus; Chromosome (UniProt). Locus 6p22.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.64 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Bladder & urothelial cancer: IntOGen driver in 2 cohorts (BLCA)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Diffuse midline glioma, H3 K27-altered: CIViC evidence names this disease","Glioma & glioblastoma: CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},{"id":"h3c4","kind":"target","name":"H3C4","aka":["H3 clustered histone 4","Histone H3.1","H3/b","H3FB","HIST1H3D"],"tldr":"H3C4 (Histone H3.1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4767"},{"label":"UniProt P68431","url":"https://www.uniprot.org/uniprotkb/P68431/entry"},{"label":"NCBI Gene 8351","url":"https://www.ncbi.nlm.nih.gov/gene/8351"},{"label":"Ensembl ENSG00000197409","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197409"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Posterior Fossa Group A Ependymoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H3C4","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4767","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P68431","url":"https://www.uniprot.org/uniprotkb/P68431/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene H3C4","url":"https://civicdb.org/features/6607","note":"1 evidence items, 0 assertions, 1 variants; diseases: Posterior Fossa Group A Ependymoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA lists H3C4 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA H3C4: RNA tissue enriched (bone marrow 12 nTPM); high antibody staining in 44 normal tissues; highest cancer staining glioma (12 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas H3C4 tissue","url":"https://www.proteinatlas.org/ENSG00000197409-H3C4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197409 associations","url":"https://platform.opentargets.org/target/ENSG00000197409/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4767","ensembl":"ENSG00000197409","uniprot":"P68431","entrez":"8351","firstDescribed":1981,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohe et al, J. Biochem, 1981, \"Human spleen histone H3. Isolation and amino acid sequence\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7309716/","biology":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Location: Nucleus; Chromosome (UniProt). Locus 6p22.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"h4c9","kind":"target","name":"H4C9","aka":["H4 clustered histone 9","Histone H4","H4/m","H4FM","HIST1H4I"],"tldr":"H4C9 (Histone H4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Chronic lymphocytic leukaemia.","summary":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes affected pathway 0.76, animal model 0.46, somatic mutation 0.49). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4793","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4793"},{"label":"UniProt P62805","url":"https://www.uniprot.org/uniprotkb/P62805/entry"},{"label":"NCBI Gene 8294","url":"https://www.ncbi.nlm.nih.gov/gene/8294"},{"label":"Ensembl ENSG00000276180","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000276180"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"H4C9","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4793","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4793","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62805","url":"https://www.uniprot.org/uniprotkb/P62805/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000276180","url":"https://platform.opentargets.org/target/ENSG00000276180/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"},{"label":"IntOGen H4C9","url":"https://www.intogen.org/search?gene=H4C9","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4793","ensembl":"ENSG00000276180","uniprot":"P62805","entrez":"8294","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sierra et al, Nucleic Acids Res, 1983, \"Structure and in vitro transcription of a human H4 histone gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6314274/","biology":"Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Location: Nucleus; Chromosome (UniProt). Locus 6p22.1 (HGNC).","whereFound":["Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)"],"targetClass":"oncogene","prevalence":[]},{"id":"habp2","kind":"target","name":"HABP2","aka":["hyaluronan binding protein 2","Factor VII-activating protease","HGFAL"],"tldr":"HABP2 (Factor VII-activating protease) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Thyroid cancer.","summary":"Cleaves the alpha-chain at multiple sites and the beta-chain between 'Lys-53' and 'Lys-54' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro-urokinase) to the active two chain form. Activates coagulation factor VII.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.67, genetic association 0.67, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4798","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4798"},{"label":"UniProt Q14520","url":"https://www.uniprot.org/uniprotkb/Q14520/entry"},{"label":"NCBI Gene 3026","url":"https://www.ncbi.nlm.nih.gov/gene/3026"},{"label":"Ensembl ENSG00000148702","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148702"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HABP2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4798","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4798","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14520","url":"https://www.uniprot.org/uniprotkb/Q14520/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000148702","url":"https://platform.opentargets.org/target/ENSG00000148702/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: thyroid cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4798","ensembl":"ENSG00000148702","uniprot":"Q14520","entrez":"3026","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kitamura, 1995.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q14520/entry","biology":"Cleaves the alpha-chain at multiple sites and the beta-chain between 'Lys-53' and 'Lys-54' but not the gamma-chain of fibrinogen and therefore does not initiate the formation of the fibrin clot and does not cause the fibrinolysis directly. It does not cleave (activate) prothrombin and plasminogen but converts the inactive single chain urinary plasminogen activator (pro-urokinase) to the active two chain form. Activates coagulation factor VII. May function as a tumour suppressor negatively regulating cell proliferation and cell migration. Location: Secreted (UniProt). Locus 10q25.3 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.51 with thyroid cancer (MONDO_0002108)"],"targetClass":"enzyme","prevalence":[]},{"id":"hbb","kind":"target","name":"HBB","aka":["hemoglobin subunit beta","Hemoglobin subunit beta","CD113t-C","beta-globin"],"tldr":"HBB (Haemoglobin subunit beta) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Involved in oxygen transport from the lung to the various peripheral tissues. LVV-haemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure. Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signalling, these properties implicate it as a regulator of pain and inflammation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4827","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4827"},{"label":"UniProt P68871","url":"https://www.uniprot.org/uniprotkb/P68871/entry"},{"label":"NCBI Gene 3043","url":"https://www.ncbi.nlm.nih.gov/gene/3043"},{"label":"Ensembl ENSG00000244734","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000244734"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: SMARCB1-deficient Renal Medullary Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HBB","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4827","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4827","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P68871","url":"https://www.uniprot.org/uniprotkb/P68871/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HBB","url":"https://civicdb.org/features/2556","note":"1 evidence items, 0 assertions, 1 variants; diseases: SMARCB1-deficient Renal Medullary Carcinoma (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HBB: RNA tissue enriched (bone marrow 125,481 nTPM); blood lineage group enriched (dendritic cells 381 nTPM, granulocytes 662 nTPM); no normal tissue stained high; highest cancer staining carcinoid (1 of 3 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HBB tissue","url":"https://www.proteinatlas.org/ENSG00000244734-HBB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000244734 associations","url":"https://platform.opentargets.org/target/ENSG00000244734/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4827","ensembl":"ENSG00000244734","uniprot":"P68871","entrez":"3043","firstDescribed":1957,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ingram V.M., Nature, 1957, \"Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/13464827/","biology":"Involved in oxygen transport from the lung to the various peripheral tissues. LVV-haemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure. Functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signalling, these properties implicate it as a regulator of pain and inflammation. Locus 11p15.4 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"hbegf","kind":"target","name":"HBEGF","aka":["heparin binding EGF like growth factor","Proheparin-binding EGF-like growth factor","HB-EGF","HEGFL"],"tldr":"HBEGF (Proheparin-binding EGF-like growth factor) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.95, genetic association 0.00, clinical 0.08).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3059","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3059"},{"label":"UniProt Q99075","url":"https://www.uniprot.org/uniprotkb/Q99075/entry"},{"label":"NCBI Gene 1839","url":"https://www.ncbi.nlm.nih.gov/gene/1839"},{"label":"Ensembl ENSG00000113070","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113070"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.08. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HBEGF","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3059","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3059","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99075","url":"https://www.uniprot.org/uniprotkb/Q99075/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000113070","url":"https://platform.opentargets.org/target/ENSG00000113070/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HBEGF: RNA tissue enhanced (urinary bladder 120 nTPM); blood lineage group enriched (dendritic cells 2 nTPM, monocytes 2 nTPM); no normal tissue stained high; highest cancer staining melanoma (1 of 9 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HBEGF tissue","url":"https://www.proteinatlas.org/ENSG00000113070-HBEGF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113070 associations","url":"https://platform.opentargets.org/target/ENSG00000113070/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3059","ensembl":"ENSG00000113070","uniprot":"Q99075","entrez":"1839","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Higashiyama et al, Science, 1991, \"A heparin-binding growth factor secreted by macrophage-like cells that is related to EGF\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1840698/","biology":"Growth factor that mediates its effects via EGFR, ERBB2 and ERBB4. Required for normal cardiac valve formation and normal heart function. Promotes smooth muscle cell proliferation. May be involved in macrophage-mediated cellular proliferation. It is mitogenic for fibroblasts, but not endothelial cells. It is able to bind EGF receptor/EGFR with higher affinity than EGF itself and is a far more potent mitogen for smooth muscle cells than EGF. Location: Secreted, extracellular space; Cell membrane (UniProt). Locus 5q31.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"hcar3","kind":"target","name":"HCAR3","aka":["hydroxycarboxylic acid receptor 3","Hydroxycarboxylic acid receptor 3","HCA3","HM74","GPR109B"],"tldr":"HCAR3 (Hydroxycarboxylic acid receptor 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"G protein-coupled receptor for 3-hydroxyoctanoate, a fatty acid beta-oxidation intermediate. Signals through the inhibitory G(i)/o family of G proteins. Acts as a negative feedback regulator of adipocyte lipolysis, helping to counterbalance prolipolytic signals during physiological or pathological elevations in beta-oxidation.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16824","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16824"},{"label":"UniProt P49019","url":"https://www.uniprot.org/uniprotkb/P49019/entry"},{"label":"NCBI Gene 8843","url":"https://www.ncbi.nlm.nih.gov/gene/8843"},{"label":"Ensembl ENSG00000255398","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000255398"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HCAR3","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:16824","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16824","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49019","url":"https://www.uniprot.org/uniprotkb/P49019/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen HCAR3","url":"https://www.intogen.org/search?gene=HCAR3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:16824","ensembl":"ENSG00000255398","uniprot":"P49019","entrez":"8843","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, Int. Immunol, 1993, \"Molecular cloning of cDNAs encoding a LD78 receptor and putative leukocyte chemotactic peptide receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7505609/","biology":"G protein-coupled receptor for 3-hydroxyoctanoate, a fatty acid beta-oxidation intermediate. Signals through the inhibitory G(i)/o family of G proteins. Acts as a negative feedback regulator of adipocyte lipolysis, helping to counterbalance prolipolytic signals during physiological or pathological elevations in beta-oxidation. Acts as a low affinity receptor for nicotinic acid. This pharmacological effect requires nicotinic acid doses that are much higher than those provided by a normal diet. Location: Cell membrane (UniProt). Locus 12q24.31 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"hck","kind":"target","name":"HCK kinase","aka":[],"tldr":"HCK is a SRC-family kinase of white blood cells that dasatinib and bosutinib inhibit; it drives growth in some leukaemias and in Waldenstrom macroglobulinaemia, where ibrutinib also hits it.","summary":"Haematopoietic cell kinase (HCK) is a SRC-family tyrosine kinase restricted to myeloid cells and B lymphocytes. It is one of the SRC kinases blocked by dasatinib and bosutinib, and in chronic myeloid leukaemia it associates with BCR-ABL and helps drive STAT5 signalling. In Waldenstrom macroglobulinaemia the MYD88 L265P mutation switches HCK on, and part of the activity of ibrutinib in that disease comes from inhibiting HCK as well as BTK. HCK is also being studied as a target in colorectal cancer, where it is active in tumour-associated macrophages.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/HCK","links":[{"label":"UniProt P08631: HCK","url":"https://www.uniprot.org/uniprotkb/P08631/entry"},{"label":"HGNC:4840 HCK","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4840"},{"label":"ChEMBL target CHEMBL3234","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL3234"}],"tags":["chembl-gap"],"related":["lyn","btk","src"],"cancers":["cml","waldenstrom","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["dasatinib","bosutinib","ibrutinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"HCK","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal dendritic cells and granulocytes and monocytes and lymphoid tissue cells: HPA finds the gene tissue enhanced in lymphoid tissue, and the 3 medicines aimed at it (Dasatinib, Bosutinib, Ibrutinib) act on the wild-type protein, so the normal lineage is hit too. HPA HCK: RNA tissue enhanced (lymphoid tissue 107 nTPM); blood lineage group enriched (dendritic cells 336 nTPM, granulocytes 803 nTPM, monocytes 1,255 nTPM); no normal tissue stained high; highest cancer staining endometrial cancer (2 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Colorectal cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (chronic myeloid leukemia, acute lymphoblastic leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HCK tissue","url":"https://www.proteinatlas.org/ENSG00000101336-HCK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HCK pathology","url":"https://www.proteinatlas.org/ENSG00000101336-HCK/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000101336 associations","url":"https://platform.opentargets.org/target/ENSG00000101336/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4840","ensembl":"ENSG00000101336","uniprot":"P08631","entrez":"3055","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Quintrell et al, Mol. Cell. Biol, 1987, \"Identification of a human gene (HCK) that encodes a protein-tyrosine kinase and is expressed in hemopoietic cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3496523/","biology":"A non-receptor tyrosine kinase downstream of Fc, integrin and Toll-like receptors in myeloid cells; it activates STAT5, PI3K and MAPK pathways.","whereFound":["Monocytes, macrophages, neutrophils and B cells","CML and Waldenstrom macroglobulinaemia cells"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (HCK kinase, mainly in white blood cells); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"hdac10","kind":"target","name":"HDAC10","aka":["histone deacetylase 10","Polyamine deacetylase HDAC10","DKFZP761B039"],"tldr":"HDAC10 (Polyamine deacetylase HDAC10) is an enzyme. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma and Multiple myeloma.","summary":"Polyamine deacetylase (PDAC), which acts preferentially on N(8)-acetylspermidine, and also on acetylcadaverine and acetylputrescine. Exhibits attenuated catalytic activity toward N(1),N(8)-diacetylspermidine and very low activity, if any, toward N(1)-acetylspermidine. Histone deacetylase activity has been observed in vitro.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, clinical 0.95). In OnCo, 1 product record names it (Tucidinostat (chidamide)).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18128","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18128"},{"label":"UniProt Q969S8","url":"https://www.uniprot.org/uniprotkb/Q969S8/entry"},{"label":"NCBI Gene 83933","url":"https://www.ncbi.nlm.nih.gov/gene/83933"},{"label":"Ensembl ENSG00000100429","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100429"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":["tucidinostat"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.95; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HDAC10","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:18128","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18128","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q969S8","url":"https://www.uniprot.org/uniprotkb/Q969S8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100429","url":"https://platform.opentargets.org/target/ENSG00000100429/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: plasma cell myeloma 0.55, non-Hodgkin lymphoma 0.56 (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression or amplification: 1 of 1 medicines aimed at it name overexpression or amplification in their mechanism (Tucidinostat (chidamide)). HPA HDAC10: RNA low tissue specificity; high antibody staining in 26 normal tissues; highest cancer staining breast cancer (11 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, peripheral T-cell lymphoma, not otherwise specified). (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Chipscreen Biosciences","url":"https://www.chipscreen.com/en/"},{"label":"Human Protein Atlas HDAC10 tissue","url":"https://www.proteinatlas.org/ENSG00000100429-HDAC10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HDAC10 pathology","url":"https://www.proteinatlas.org/ENSG00000100429-HDAC10/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100429 associations","url":"https://platform.opentargets.org/target/ENSG00000100429/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18128","ensembl":"ENSG00000100429","uniprot":"Q969S8","entrez":"83933","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dunham et al, Nature, 1999, \"The DNA sequence of human chromosome 22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10591208/","biology":"Polyamine deacetylase (PDAC), which acts preferentially on N(8)-acetylspermidine, and also on acetylcadaverine and acetylputrescine. Exhibits attenuated catalytic activity toward N(1),N(8)-diacetylspermidine and very low activity, if any, toward N(1)-acetylspermidine. Histone deacetylase activity has been observed in vitro. Has also been shown to be involved in MSH2 deacetylation. The physiological relevance of protein/histone deacetylase activity is unclear and could be very weak. May play a role in the promotion of late stages of autophagy, possibly autophagosome-lysosome fusion and/or lysosomal exocytosis in neuroblastoma cells. Location: Cytoplasm; Nucleus (UniProt). Locus 22q13.33 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.55 with plasma cell myeloma (MONDO_0009693)"],"targetClass":"enzyme","prevalence":[]},{"id":"hdac11","kind":"target","name":"HDAC11","aka":["histone deacetylase 11","Histone deacetylase 11"],"tldr":"HDAC11 (Histone deacetylase 11) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma, Skin cancer and Multiple myeloma.","summary":"Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.38, clinical 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19086","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19086"},{"label":"UniProt Q96DB2","url":"https://www.uniprot.org/uniprotkb/Q96DB2/entry"},{"label":"NCBI Gene 79885","url":"https://www.ncbi.nlm.nih.gov/gene/79885"},{"label":"Ensembl ENSG00000163517","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163517"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","skin-cancer","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.95. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HDAC11","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:19086","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19086","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96DB2","url":"https://www.uniprot.org/uniprotkb/Q96DB2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163517","url":"https://platform.opentargets.org/target/ENSG00000163517/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: plasma cell myeloma 0.55, non-Hodgkin lymphoma 0.56, skin cancer 0.56 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HDAC11: RNA tissue enhanced (brain 94 nTPM, testis 80 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Skin cancer (all types), Multiple myeloma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, peripheral T-cell lymphoma, not otherwise specified). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HDAC11 tissue","url":"https://www.proteinatlas.org/ENSG00000163517-HDAC11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163517 associations","url":"https://platform.opentargets.org/target/ENSG00000163517/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:19086","ensembl":"ENSG00000163517","uniprot":"Q96DB2","entrez":"79885","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Location: Nucleus (UniProt). Locus 3p25.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Multiple myeloma: Open Targets association 0.55 with plasma cell myeloma (MONDO_0009693)"],"targetClass":"transcription","prevalence":[]},{"id":"hdac4","kind":"target","name":"HDAC4","aka":["histone deacetylase 4","Histone deacetylase 4","KIAA0288","HDAC-A","HDACA","HD4","HA6116","HDAC-4"],"tldr":"HDAC4 (Histone deacetylase 4) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target and an oncogene driver, and an approved or late-stage drug is recorded against it. Tied to Skin cancer, Non-Hodgkin lymphoma, Multiple myeloma and 1 more.","summary":"Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.42, somatic mutation 0.40, clinical 0.95). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Thymoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14063","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14063"},{"label":"UniProt P56524","url":"https://www.uniprot.org/uniprotkb/P56524/entry"},{"label":"NCBI Gene 9759","url":"https://www.ncbi.nlm.nih.gov/gene/9759"},{"label":"Ensembl ENSG00000068024","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000068024"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","non-hodgkin-lymphoma","multiple-myeloma","thymoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.95; IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HDAC4","role":["drug-target","oncogene-driver"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:14063","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14063","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P56524","url":"https://www.uniprot.org/uniprotkb/P56524/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000068024","url":"https://platform.opentargets.org/target/ENSG00000068024/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: plasma cell myeloma 0.55, non-Hodgkin lymphoma 0.57, skin cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen HDAC4","url":"https://www.intogen.org/search?gene=HDAC4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA HDAC4: RNA tissue enhanced (skeletal muscle 33 nTPM, tongue 25 nTPM); blood lineage lineage enriched (granulocytes 47 nTPM); high antibody staining in 21 normal tissues; highest cancer staining thyroid cancer (3 of 4 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Lymphoma, Multiple myeloma, Thymoma and thymic carcinoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, peripheral T-cell lymphoma, not otherwise specified). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P56524","url":"https://www.uniprot.org/uniprotkb/P56524/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen HDAC4","url":"https://www.intogen.org/search?gene=HDAC4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas HDAC4 tissue","url":"https://www.proteinatlas.org/ENSG00000068024-HDAC4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000068024 associations","url":"https://platform.opentargets.org/target/ENSG00000068024/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14063","ensembl":"ENSG00000068024","uniprot":"P56524","entrez":"9759","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohara et al, DNA Res, 1997, \"Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9179496/","biology":"Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation via its interaction with the myocyte enhancer factors such as MEF2A, MEF2C and MEF2D. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Deacetylates HSPA1A and HSPA1B at 'Lys-77' leading to their preferential binding to co-chaperone STUB1. Location: Nucleus; Cytoplasm (UniProt). Locus 2q37.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.55 with plasma cell myeloma (MONDO_0009693)","Thymoma: IntOGen driver in 1 cohort (THYM)"],"targetClass":"oncogene","prevalence":[]},{"id":"hdac5","kind":"target","name":"HDAC5","aka":["histone deacetylase 5","Histone deacetylase 5","KIAA0600","NY-CO-9","FLJ90614"],"tldr":"HDAC5 (Histone deacetylase 5) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma and Multiple myeloma.","summary":"In vitro, it deacetylates lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, clinical 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14068","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14068"},{"label":"UniProt Q9UQL6","url":"https://www.uniprot.org/uniprotkb/Q9UQL6/entry"},{"label":"NCBI Gene 10014","url":"https://www.ncbi.nlm.nih.gov/gene/10014"},{"label":"Ensembl ENSG00000108840","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108840"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.95. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HDAC5","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:14068","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14068","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UQL6","url":"https://www.uniprot.org/uniprotkb/Q9UQL6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108840","url":"https://platform.opentargets.org/target/ENSG00000108840/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: plasma cell myeloma 0.55, non-Hodgkin lymphoma 0.56 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA HDAC5: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining colorectal cancer (1 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, peripheral T-cell lymphoma, not otherwise specified). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HDAC5 tissue","url":"https://www.proteinatlas.org/ENSG00000108840-HDAC5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108840 associations","url":"https://platform.opentargets.org/target/ENSG00000108840/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14068","ensembl":"ENSG00000108840","uniprot":"Q9UQL6","entrez":"10014","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9628581/","biology":"In vitro, it deacetylates lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Location: Nucleus; Cytoplasm (UniProt). Locus 17q21.31 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.55 with plasma cell myeloma (MONDO_0009693)"],"targetClass":"transcription","prevalence":[]},{"id":"hdac7","kind":"target","name":"HDAC7","aka":["histone deacetylase 7","Histone deacetylase 7","DKFZP586J0917","HDAC7A"],"tldr":"HDAC7 (Histone deacetylase 7) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma and Multiple myeloma.","summary":"Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.31, genetic association 0.02, clinical 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14067","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14067"},{"label":"UniProt Q8WUI4","url":"https://www.uniprot.org/uniprotkb/Q8WUI4/entry"},{"label":"NCBI Gene 51564","url":"https://www.ncbi.nlm.nih.gov/gene/51564"},{"label":"Ensembl ENSG00000061273","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000061273"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.95. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HDAC7","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:14067","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14067","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WUI4","url":"https://www.uniprot.org/uniprotkb/Q8WUI4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000061273","url":"https://platform.opentargets.org/target/ENSG00000061273/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: plasma cell myeloma 0.55, non-Hodgkin lymphoma 0.58 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA HDAC7: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 7 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, peripheral T-cell lymphoma, not otherwise specified). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HDAC7 tissue","url":"https://www.proteinatlas.org/ENSG00000061273-HDAC7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000061273 associations","url":"https://platform.opentargets.org/target/ENSG00000061273/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14067","ensembl":"ENSG00000061273","uniprot":"Q8WUI4","entrez":"51564","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Li et al, 2000, \"A novel class II HDAC is associated with the transcriptional homeodomain repressor CCAAT displacement protein\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8WUI4/entry","biology":"Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Involved in muscle maturation by repressing transcription of myocyte enhancer factors such as MEF2A, MEF2B and MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors. May be involved in Epstein-Barr virus (EBV) latency, possibly by repressing the viral BZLF1 gene. Location: Nucleus; Cytoplasm (UniProt). Locus 12q13.11 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.58 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.55 with plasma cell myeloma (MONDO_0009693)"],"targetClass":"transcription","prevalence":[]},{"id":"hdac8","kind":"target","name":"HDAC8","aka":["histone deacetylase 8","Histone deacetylase 8","RPD3","KDAC8","HDACL1","MRXS6"],"tldr":"HDAC8 (Histone deacetylase 8) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma and Multiple myeloma.","summary":"Histone deacetylase that catalyses the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, clinical 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13315","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13315"},{"label":"UniProt Q9BY41","url":"https://www.uniprot.org/uniprotkb/Q9BY41/entry"},{"label":"NCBI Gene 55869","url":"https://www.ncbi.nlm.nih.gov/gene/55869"},{"label":"Ensembl ENSG00000147099","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147099"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.95. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HDAC8","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:13315","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13315","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BY41","url":"https://www.uniprot.org/uniprotkb/Q9BY41/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147099","url":"https://platform.opentargets.org/target/ENSG00000147099/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: plasma cell myeloma 0.55, non-Hodgkin lymphoma 0.57 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA HDAC8: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining stomach cancer (1 of 8 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, peripheral T-cell lymphoma, not otherwise specified). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HDAC8 tissue","url":"https://www.proteinatlas.org/ENSG00000147099-HDAC8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147099 associations","url":"https://platform.opentargets.org/target/ENSG00000147099/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13315","ensembl":"ENSG00000147099","uniprot":"Q9BY41","entrez":"55869","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bonaldo M.F. et al, Genome Res, 1996, \"Normalization and subtraction: two approaches to facilitate gene discovery\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8889548/","biology":"Histone deacetylase that catalyses the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility. In addition to protein deacetylase activity, also has protein-lysine deacylase activity: acts as a protein decrotonylase by mediating decrotonylation ((2E)-butenoyl) of histones. Location: Nucleus; Chromosome; Cytoplasm (UniProt). Locus Xq13.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.55 with plasma cell myeloma (MONDO_0009693)"],"targetClass":"transcription","prevalence":[]},{"id":"hdac9","kind":"target","name":"HDAC9","aka":["histone deacetylase 9","Histone deacetylase 9","KIAA0744","HD7","HDAC7B"],"tldr":"HDAC9 (Histone deacetylase 9) is a protein that switches other genes on and off. The public catalogues list it as a drug target, a biomarker and a fusion partner, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Oesophageal cancer, Non-Hodgkin lymphoma and 4 more.","summary":"Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Represses MEF2-dependent transcription.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Panobinostat, HDAC Inhibitor REC-2282, Vorinostat and Trichostatin A. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.34, clinical 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14065","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14065"},{"label":"UniProt Q9UKV0","url":"https://www.uniprot.org/uniprotkb/Q9UKV0/entry"},{"label":"NCBI Gene 9734","url":"https://www.ncbi.nlm.nih.gov/gene/9734"},{"label":"Ensembl ENSG00000048052","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000048052"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","esophageal","non-hodgkin-lymphoma","multiple-myeloma","skin-cancer","glioblastoma","cutaneous-t-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.95; CIViC holds 3 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HDAC9","role":["drug-target","biomarker","fusion-partner"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:14065","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14065","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UKV0","url":"https://www.uniprot.org/uniprotkb/Q9UKV0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HDAC9","url":"https://civicdb.org/features/7704","note":"3 evidence items, 0 assertions, 2 variants; diseases: Glioblastoma, Breast Cancer, Oesophageal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000048052","url":"https://platform.opentargets.org/target/ENSG00000048052/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: plasma cell myeloma 0.56, non-Hodgkin lymphoma 0.58, skin cancer 0.51, primary cutaneous T-cell non-Hodgkin lymphoma 0.51 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA HDAC9: RNA low tissue specificity; blood lineage group enriched (B-cells 53 nTPM, dendritic cells 74 nTPM, monocytes 24 nTPM); no normal tissue stained high; highest cancer staining skin cancer (8 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Oesophageal cancer, Lymphoma, Multiple myeloma, Skin cancer (all types), Brain and spinal cord tumours (all types)); Open Targets associates it with 4 specific cancer types at or above 0.5 (plasma cell myeloma, peripheral T-cell lymphoma, not otherwise specified, mature T-cell and NK-cell non-Hodgkin lymphoma, primary cutaneous T-cell non-Hodgkin lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UKV0","url":"https://www.uniprot.org/uniprotkb/Q9UKV0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HDAC9","url":"https://civicdb.org/features/7704","note":"3 evidence items, 0 assertions, 2 variants; diseases: Glioblastoma, Breast Cancer, Oesophageal Cancer (GraphQL API, CC0)"},{"label":"Human Protein Atlas HDAC9 tissue","url":"https://www.proteinatlas.org/ENSG00000048052-HDAC9/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000048052 associations","url":"https://platform.opentargets.org/target/ENSG00000048052/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14065","ensembl":"ENSG00000048052","uniprot":"Q9UKV0","entrez":"9734","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9872452/","biology":"Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Represses MEF2-dependent transcription. Isoform 3 lacks active site residues and therefore is catalytically inactive. Represses MEF2-dependent transcription by recruiting HDAC1 and/or HDAC3. Seems to inhibit skeletal myogenesis and to be involved in heart development. Location: Nucleus (UniProt). Locus 7p21.1 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","Oesophageal cancer: CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.58 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.56 with plasma cell myeloma (MONDO_0009693)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Glioma & glioblastoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"her2","kind":"target","name":"HER2","aka":[],"tldr":"A growth-signal receptor. Some cancers make far too much of it, and drugs that block it or use it as a docking site have transformed those cancers.","summary":"Human epidermal growth factor receptor 2 is a receptor tyrosine kinase amplified in ~15-20% of breast cancers and a subset of gastric, colorectal, lung (mutations), and biliary cancers. Trastuzumab (1998) was the first targeted antibody in solid tumours. Trastuzumab deruxtecan redefined the target by working in 'HER2-low' tumours that older drugs ignored, and in 2026 gained approval in early-stage disease.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/HER2/neu","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/HER2/neu"}],"tags":["adc-target","driver"],"related":["her2-ish-amplified","her2-ihc-3-plus","her2-mutation","her2-ihc-2-plus","her2-ihc-1-plus","her2-ihc-0","her2-low-ihc","her2-ultralow"],"cancers":["breast-her2-positive","breast-hr-positive","gastric","nsclc","colorectal","cholangiocarcinoma","tnbc","pancreatic","gallbladder"],"sections":[],"technologies":["her2-tyrosine-kinase-inhibitors"],"targets":[],"drugs":["her2-testing-assays","tqb2102","kn026","ibi354","a166","hlx22","glsi-100","hlx11","rph-051","ro7771950","ose2101","gq1005","iah0968","tqb2930","ssgj-705","avzo-021","cinrebafusp-alfa","absk061","ssgj-612"],"companies":["dualitybio","amunix-pharmaceuticals","callio-therapeutics","cogent-biosciences","dantari","enliven-therapeutics","ibex-medical-analytics","iksuda-therapeutics","imagene-ai","myricx-bio","orum-therapeutics","precirix"],"institutions":[],"pathways":["pi3k-akt-mtor","ras-mapk","bladder-cancer-signalling","breast-cancer-signalling","endometrial-cancer-signalling","gastric-cancer-signalling","pancreatic-cancer-signalling"],"terms":["her2-low","gene-amplification","her2-testing-in-biliary-cancer"],"trials":["nct06043817","nct07589517","nct05532696","nct07510802","nct05523947","nct06369831","nct07467863","nct06616766","nct06439771","nct05771584","nct07641023","nct07462650","nct07192432"],"people":[],"bottlenecks":[],"keyPapers":["paper-slamon-her2-breast-ovarian-science-1989","paper-yarden-sliwkowski-erbb-network-nrmcb-2001","paper-schettini-her2-low-features-npj-breast-cancer-2021","paper-denkert-her2-low-pooled-neoadjuvant-lancet-oncol-2021","paper-boissiere-michot-her2-ultralow-tnbc-virchows-arch-2026","paper-destiny-breast04-nejm-2022","paper-waddell-whole-genomes-pancreatic-nature-2015","paper-philip-kras-wild-type-pancreatic-ccr-2022","paper-tcga-colorectal-comprehensive-characterization-nature-2012","paper-richman-her2-amplification-quasar-focus-piccolo-j-pathol-2016","paper-sartore-bianchi-heracles-trastuzumab-lapatinib-lancet-oncol-2016","paper-bertotti-xenopatients-her2-cetuximab-resistant-colorectal-cancer-discov-2011","paper-seshagiri-rspo-fusions-colon-nature-2012","paper-mondaca-erbb2-gallbladder-us-chile-jco-go-2024","paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-javle-biliary-ngs-cancer-2016","paper-hiraoka-her2-status-biliary-hum-pathol-2020","paper-roa-her2-overexpression-gallbladder-gcr-2014","paper-angerilli-her2-ihc-cish-biliary-hum-pathol-2026","paper-harding-lancet-oncol","paper-javle-mypathway-her2-biliary-lancet-oncol-2021","paper-ohba-herb-trastuzumab-deruxtecan-biliary-jco-2024","paper-oh-destiny-pantumor02-biliary-pancreatic-esmo-open-2026","paper-kris-lung-cancer-mutation-consortium-jama-2014","paper-yu-acquired-resistance-rebiopsy-egfr-ccr-2013"],"journals":[],"dependsOn":[],"notes":["Triple-negative breast cancer, HER2-low and ultralow: HER2-low (IHC 1+ or 2+/ISH-negative) in 36.6% of TNBC among 3,689 HER2-negative patients (Schettini 2021) and 34.0% of 1,162 hormone receptor-negative trial patients (Denkert 2021); HER2-null 38.4%, ultralow 37.6% and low 24.0% of 367 untreated TNBCs (Boissiere-Michot 2026). DESTINY-Breast04 enrolled 63 hormone receptor-negative patients (Modi 2022) and the HER2-low label covers them; DESTINY-Breast06 and the ultralow label are hormone receptor-positive only. In TNBC no gene separates HER2-low from HER2-0 and pathologist agreement is poor (Schettini 2021).","Pancreatic ductal adenocarcinoma: ERBB2 amplification in 1 to 5% by platform and mutation in under 1% (cBioPortal); amplification in 2.2% of KRAS wild-type tumours (Philip 2022). It was among the druggable focal amplifications found at low individual prevalence in 100 whole genomes (Waddell 2015); zenocutuzumab reaches HER2 as the docking arm of its NRG1-blocking mechanism rather than as an amplified driver.","Colorectal cancer: ERBB2 amplification in 2 to 3% of all tumours but 5.3% of RAS and BRAF wild-type ones, which is the population that matters because it overlaps exactly with the patients an EGFR antibody would otherwise be given to (cBioPortal; Richman 2016; 48 of 914 screened for HERACLES). The threshold is the HERACLES criterion, intense membranous staining in more than 50% of cells corresponding to homogeneous amplification, not the 10% used in gastric cancer (Valtorta 2015). HER2 amplification was first proposed as a cause of cetuximab resistance in patient-derived xenografts (Bertotti 2011), and the regimens that followed are trastuzumab plus lapatinib (HERACLES, 30% response), tucatinib plus trastuzumab (MOUNTAINEER) and trastuzumab deruxtecan (DESTINY-CRC02). Plasma HER2 copy number selects patients as well as tissue does (Nakamura 2021). ERBB2 point mutations, 4 to 6%, are mostly passengers in hypermutated tumours and do not qualify.","Gallbladder cancer, amplification versus mutation: ERBB2 alterations were present in 14% of 260 patients, as 8% amplification alone, 4% mutation alone, 1.5% both and 0.4% fusion (Mondaca 2024, MSK-IMPACT), and in 15% of 376 Indian patients with about 8% amplification and an S310F/Y hotspot (Suryavanshi 2025). Only the amplified tumours are seen by IHC and ISH, which is what the zanidatamab label tests for (IHC 3+); the extracellular S310 and kinase-domain mutations need sequencing and are not covered by that label. Protein positivity depends on the scoring rule: 31.3% of 80 resected Japanese gallbladder carcinomas by the gastric guideline (Hiraoka 2020), 12.8% of 187 Chilean cases by breast criteria (Roa 2014), 9.4% of 53 by HERIZON-BTC-01 criteria (Angerilli 2026). ERBB2-driven biliary tumours can lose ERBB2 at progression (Cowzer 2026).","Lung cancer: a mutation target rather than an amplification target, the opposite of breast and stomach cancer. Exon 20 insertions are 1.9 to 2.2% of adenocarcinomas and 3.4% of never-smoker cases, with Y772_A775dup the dominant allele; any ERBB2 mutation reaches about 4%, and amplification, 1 to 3%, is a separate event that the licensed oral inhibitors do not select on (cBioPortal; Kris 2014). Amplification also appears as acquired resistance to EGFR blockade, in 3 of 24 rebiopsied patients (Yu 2013). Immunohistochemistry has no selective role here."],"symbol":"ERBB2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Tumour-associated overexpression or amplification: 7 of 8 label readouts filed under it score protein level or gene copies (HER2 IHC 0 (HER2-negative, including ultralow), HER2 IHC 1+, HER2 IHC 2+ (equivocal, reflex to ISH), HER2 IHC 3+ (HER2-positive by immunohistochemistry) and more), so the medicines rely on the tumour carrying more of it than normal tissue; 1 measure a variant (HER2 (ERBB2) activating mutation). HPA ERBB2: RNA low tissue specificity; blood lineage group enriched (granulocytes 1 nTPM, T-cells 5 nTPM); no normal tissue stained high; highest cancer staining breast cancer (4 of 11 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Lung cancer (all types), Biliary tract cancer (all types), Colorectal cancer); approvals of single-target medicines aimed at it also list Bladder & urothelial cancer, Salivary gland cancers, Endometrial cancer, Oesophageal cancer and more, not counted; Open Targets associates it with 15 specific cancer types at or above 0.5 (non-small cell lung carcinoma, gastric cancer, breast carcinoma, gastric adenocarcinoma, urinary bladder cancer, lung adenocarcinoma and more). Tissue-agnostic: HER2 IHC 3+ (HER2-positive by immunohistochemistry) threshold \"IHC 3+\" for Trastuzumab deruxtecan is tissue-agnostic; Trastuzumab deruxtecan US 2024: \"HER2 IHC3+ solid tumours (tumour-agnostic)\". (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"HER2 IHC 0 (HER2-negative, including ultralow) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=7e67e73e-ddf4-4e4d-8b50-09d7514910b6","note":"IHC 0 with membrane staining (ultralow), HR-positive"},{"label":"Human Protein Atlas ERBB2 tissue","url":"https://www.proteinatlas.org/ENSG00000141736-ERBB2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas ERBB2 pathology","url":"https://www.proteinatlas.org/ENSG00000141736-ERBB2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000141736 associations","url":"https://platform.opentargets.org/target/ENSG00000141736/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3430","ensembl":"ENSG00000141736","uniprot":"P04626","entrez":"2064","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Coussens et al, Science, 1985, \"Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2999974/","biology":"Ligand-less receptor that heterodimerises with HER3/EGFR to drive PI3K and MAPK signalling. Amplification is a true oncogenic driver; low expression is merely a delivery address for ADCs.","whereFound":["HER2+ breast cancer (~15-20%)","HER2-low breast cancer (~50%)","Gastric/GEJ (~15-20%)","HER2-mutant NSCLC (~2-3%)","Colorectal (~3-5%)","Biliary tract","Triple-negative breast cancer: her2-low (ihc 1+ or 2+/ish-negative) 24-37%","Triple-negative breast cancer: her2-ultralow (ihc 0 with faint membrane staining in 10% or fewer cells) about 38%","Pancreatic ductal adenocarcinoma: amplification (mutation in a further 1%) 1-5%","Colorectal cancer: high-level amplification 2-3%","Colorectal cancer: activating mutation (not amplification) 4-6%","Gallbladder cancer: amplification 8-10%","Gallbladder cancer: activating mutation (s310f/y hotspot) 4-8%","Gallbladder cancer: protein overexpression (ihc) 9-31%","Non-small-cell lung cancer: exon 20 insertion and kinase-domain missense 2-4%","Non-small-cell lung cancer: high-level amplification 1-3%"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"breast-her2-positive","pct":100,"measure":"IHC 3+ or ISH-amplified (defining)","source":"https://www.nature.com/articles/s41591-025-03981-4"},{"cancerId":"breast-hr-positive","pct":"55-65","measure":"HER2-low (IHC 1+ or 2+/ISH-)","source":"https://www.nature.com/articles/s41591-025-03981-4"},{"cancerId":"tnbc","pct":"30-40","measure":"HER2-low (IHC 1+ or 2+/ISH-)","source":"https://www.nature.com/articles/s41591-025-03981-4"},{"cancerId":"gastric","pct":"15-20","measure":"IHC 3+ or 2+/ISH+","source":"https://en.wikipedia.org/wiki/Trastuzumab","note":"ToGA screening"},{"cancerId":"nsclc","pct":"2-3","measure":"ERBB2 exon 20 mutation","source":"https://www.cbioportal.org/study/summary?id=luad_tcga_pan_can_atlas_2018"},{"cancerId":"colorectal","pct":"3-5","measure":"Amplification/IHC 3+","source":"https://en.wikipedia.org/wiki/HER2/neu","note":"RAS wild-type enriched"},{"cancerId":"cholangiocarcinoma","pct":"10-20","measure":"IHC 3+ or amplification","source":"https://en.wikipedia.org/wiki/HER2/neu","note":"Higher in gallbladder/extrahepatic"},{"cancerId":"tnbc","pct":"24-37","measure":"HER2-low (IHC 1+ or 2+/ISH-negative)","source":"https://doi.org/10.1038/s41523-020-00208-2","note":"36.6% of triple-negative against 65.4% of hormone receptor-positive disease among 3,689 HER2-negative patients (Schettini 2021); 395 of 1,162 hormone receptor-negative tumours, 34.0%, in four German neoadjuvant trials (Denkert 2021); 24.0% of 367 chemotherapy-naive non-metastatic TNBCs (Boissiere-Michot 2026); 63 of 557 DESTINY-Breast04 patients, 11.3%, were hormone receptor-negative (Modi 2022). cBioPortal: IHC 1+ or 2+ recorded for 34 of 166 scored triple-negative samples, 20%, with a further 66 recorded as 0 to 1+ (breast_msk_2018); ERBB2 mutation in 10 of 299, 3.3%, in brca_metabric."},{"cancerId":"tnbc","pct":38,"measure":"HER2-ultralow (IHC 0 with faint membrane staining in 10% or fewer cells)","source":"https://doi.org/10.1007/s00428-026-04425-1","note":"37.6% ultralow, 38.4% null and 24.0% low among 367 non-metastatic TNBCs; ultralow tumours were smaller and lower grade and more often carried BRCA1 promoter methylation, and HER2 category did not affect relapse-free survival over 10.3 years (Boissiere-Michot 2026)."},{"cancerId":"pancreatic","pct":"1-5","measure":"Amplification (mutation in a further 1%)","source":"https://www.cbioportal.org/study/summary?id=paad_tcga_pan_can_atlas_2018","note":"cBioPortal high-level amplification: 9 of 183, 4.9%, in paad_tcga_pan_can_atlas_2018; 12 of 109, 11.0%, in paad_utsw_2015; 28 of 2,336, 1.2%, plus 18 mutations in pdac_msk_2024; 4 of 395 in pancreas_msk_2024. Focal amplifications of ERBB2, MET, FGFR1, CDK6, PIK3R3 and PIK3CA were found at low individual prevalence in 100 whole genomes (Waddell 2015); ERBB2 amplification in 2.2% of 266 KRAS wild-type tumours (Philip 2022)."},{"cancerId":"colorectal","pct":"2-3","measure":"High-level amplification","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal high-level amplification: 198 of 7,237, 2.7%, in crc_msk_2026; 35 of 1,134, 3.1%, in crc_msk_2017; 47 of 1,516, 3.1%, in crc_eo_2020; 20 of 592, 3.4%, in coadread_tcga_pan_can_atlas_2018; 8 of 257 in coadread_tcga_pub; 32 of 1,015 in crc_sysucc_2022. ERBB2 amplification was among the potentially drug-targetable recurrent copy-number events named in the TCGA analysis (Cancer Genome Atlas Network 2012). Immunohistochemical overexpression was 2.2% of 1,342 stage IV and 1.3% of 1,914 stage II-III patients, with 27 of 28 stage IV overexpressing cases amplified on fluorescence in situ hybridisation (Richman 2016)."},{"cancerId":"colorectal","pct":"4-6","measure":"Activating mutation (not amplification)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 378 of 7,237, 5.2%, in crc_msk_2026; 53 of 1,134, 4.7%, in crc_msk_2017; 64 of 1,516, 4.2%, in crc_eo_2020; 20 of 534, 3.7%, in coadread_tcga_pan_can_atlas_2018; 38 of 619, 6.1%, in coadread_dfci_2016. ERBB3 mutations were among the recurrent receptor kinase events of the Genentech exome series (Seshagiri 2012)."},{"cancerId":"gallbladder","pct":"8-10","measure":"Amplification","source":"https://doi.org/10.1200/go.24.00090","note":"8% amplification alone plus 1.5% amplification with a mutation among 260 patients (Mondaca 2024); about 8% of 376 Indian patients (Suryavanshi 2025); high-level amplification in 25 of 244 samples, 10.2%, in cBioPortal gbc_mskcc_2022 and 7 of 103, 6.8%, in gbc_msk_2018. ERBB2 alterations of any kind: 15% (Giraldo 2022), 16% of 85 (Javle 2016), 14% overall and 15% versus 9% in the American and Chilean cohorts (Mondaca 2024)."},{"cancerId":"gallbladder","pct":"4-8","measure":"Activating mutation (S310F/Y hotspot)","source":"https://doi.org/10.1200/go.24.00090","note":"4% mutation alone, 1.5% with amplification and 0.4% fusion among 260 patients (Mondaca 2024); S310F/Y hotspot predominance among Indian ERBB2 alterations (Suryavanshi 2025); mutations in 19 of 244 samples, 7.8%, in cBioPortal gbc_mskcc_2022; 9.4% of 32 exomes in gbc_shanghai_2014."},{"cancerId":"gallbladder","pct":"9-31","measure":"Protein overexpression (IHC)","source":"https://doi.org/10.1016/j.humpath.2020.08.006","note":"31.3% HER2-positive among 80 resected Japanese gallbladder carcinomas scored by the gastro-oesophageal guideline (Hiraoka 2020); 12.8% overexpression among 187 Chilean cases scored by ASCO/CAP breast criteria, with 20% equivocal (Roa 2014); 9.4% of 53 Italian gallbladder carcinomas HER2-positive by HERIZON-BTC-01 criteria (Angerilli 2026)."},{"cancerId":"nsclc","pct":"2-4","measure":"Exon 20 insertion and kinase-domain missense","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal, samples with an exon 20 insertion: 58 of 2,653, 2.2%, in luad_mskcc_2023_met_organotropism; 51 of 2,621, 1.9%, in nsclc_ctdx_msk_2022; 20 of 915, 2.2%, in lung_msk_2017; 8 of 232, 3.4%, in lung_nci_2022; 5 of 302, 1.7%, in luad_oncosg_2020. Any ERBB2 mutation reaches 110 of 2,653 (4.1%) and 103 of 2,621 (3.9%). Y772_A775dup is the dominant allele, 42 of 110 records in luad_mskcc_2023_met_organotropism. The Lung Cancer Mutation Consortium found ERBB2 in 19 of 733, 3% (Kris 2014)."},{"cancerId":"nsclc","pct":"1-3","measure":"High-level amplification","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal high-level amplification: 51 of 2,422, 2.1%, in luad_mskcc_2023_met_organotropism; 29 of 915, 3.2%, in lung_msk_2017; 33 of 2,621, 1.3%, in nsclc_ctdx_msk_2022; 9 of 511, 1.8%, in luad_tcga_pan_can_atlas_2018; 12 of 487, 2.5%, in lusc_tcga_pan_can_atlas_2018."}]},{"id":"her3","kind":"target","name":"HER3","aka":[],"tldr":"HER3 is a cousin of HER2 that cancers use as an escape route when HER2 or EGFR are blocked.","summary":"HER3 (ERBB3) has weak kinase activity but is the preferred dimerisation partner of HER2 and a frequent driver of resistance to EGFR and HER2 inhibitors, which is why it matters more as an escape route than as a driver in its own right. Its ligand is neuregulin (NRG1), and rare NRG1 fusions are drivers targeted by zenocutuzumab. HER3 is broadly expressed across breast, lung, and colorectal cancers, including 80-90% of EGFR-mutant NSCLC and 50-70% of breast cancers by IHC. Patritumab deruxtecan (HER3-DXd) and the EGFR×HER3 bispecific ADC izalontamab brengitecan make it a delivery target rather than a signalling target, with HERTHENA-Lung01 testing HER3-DXd in EGFR-mutant NSCLC. The open question is whether expression level predicts benefit. The simple version is a HER2 cousin that cancers switch to when HER2 or EGFR is blocked.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/ERBB3","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/ERBB3"}],"tags":["adc-target","resistance"],"related":["nrg1-fusion","her3-expression"],"cancers":["tnbc","nsclc","breast-hr-positive","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":["yl202","hmbd-001","env-501","sys6023"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-li-gallbladder-exome-erbb-nat-genet-2014","paper-narayan-gallbladder-regional-mutations-cancer-2019"],"journals":[],"dependsOn":[],"notes":["Gallbladder cancer: ERBB3 was a significantly mutated gene (11.8% of 57) in the first exome study, and ErbB pathway mutation as a whole marked a worse outcome (Li 2014)."],"symbol":"ERBB3","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 5 cell-killing or cell-finding medicines (YL202, ENV-501, SYS6023 and more) aim at the antigen, which HPA finds stained high in 27 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA ERBB3: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 1 nTPM); high antibody staining in 27 normal tissues; highest cancer staining stomach cancer (7 of 9 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Biliary tract cancer (all types)); Open Targets associates it with 5 specific cancer types at or above 0.5 (urinary bladder cancer, urinary bladder carcinoma, non-small cell lung carcinoma, medullary thyroid gland carcinoma, colorectal adenocarcinoma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ERBB3 tissue","url":"https://www.proteinatlas.org/ENSG00000065361-ERBB3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas ERBB3 pathology","url":"https://www.proteinatlas.org/ENSG00000065361-ERBB3/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000065361 associations","url":"https://platform.opentargets.org/target/ENSG00000065361/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3431","ensembl":"ENSG00000065361","uniprot":"P21860","entrez":"2065","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kraus M.H. et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"Isolation and characterization of ERBB3, a third member of the ERBB/epidermal growth factor receptor family: evidence for overexpression in a subset of human mammary tumors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2687875/","biology":"Neuregulin (NRG1) ligand; NRG1 fusions are rare drivers targeted by zenocutuzumab. Broadly expressed across breast, lung, and colorectal cancers.","whereFound":["Breast cancer (all subtypes)","EGFR-mutant NSCLC","Colorectal","NRG1-fusion tumours","Gallbladder cancer: mutation (amplification rarer) 7-12%"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"tnbc","pct":"50-70","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/ERBB3"},{"cancerId":"nsclc","pct":"80-90","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/ERBB3","note":"EGFR-mutant NSCLC in HERTHENA-Lung01"},{"cancerId":"breast-hr-positive","pct":"50-70","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/ERBB3"},{"cancerId":"gallbladder","pct":"7-12","measure":"Mutation (amplification rarer)","source":"https://doi.org/10.1038/ng.3030","note":"11.8% of 57 (Li 2014, a significantly mutated gene); mutation in 16 of 244 samples, 6.6%, and amplification in 12 of 244, 4.9%, in cBioPortal gbc_mskcc_2022; absent from the 21 Chilean tumours in Narayan 2019."}]},{"id":"erbb4","kind":"target","name":"HER4 (ERBB4)","aka":[],"tldr":"The fourth member of the HER family, hit by the irreversible pan-HER inhibitors afatinib, dacomitinib and neratinib along with EGFR and HER2. It has no approved drug of its own, and its role in cancer is less clear than that of its siblings.","summary":"ERBB4 (HER4) is a receptor tyrosine kinase activated by neuregulins that pairs with HER2 and other family members. Unlike EGFR and HER2 it is not an established oncogenic driver, and some studies link its expression to better outcomes in breast cancer. The irreversible pan-HER inhibitors afatinib and dacomitinib, approved for EGFR-mutant lung cancer, and neratinib, approved for HER2-positive breast cancer, inhibit ERBB4 as part of covering the whole family and preventing escape through HER2 or HER3 dimers. Rare ERBB4 mutations occur in melanoma and lung cancer but have no approved matched therapy.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/ERBB4","links":[{"label":"UniProt Q15303: ERBB4","url":"https://www.uniprot.org/uniprotkb/Q15303/entry"}],"tags":[],"related":[],"cancers":["nsclc","breast-her2-positive"],"sections":[],"technologies":[],"targets":[],"drugs":["afatinib","dacomitinib","neratinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"ERBB4","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Breast Invasive Carcinoma (TCGA)) and tissue enhanced in normal blood vessel, brain, fallopian tube, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA ERBB4: RNA tissue enhanced (blood vessel 8 nTPM, brain 8 nTPM, fallopian tube 11 nTPM); no normal tissue stained high; highest cancer staining pancreatic cancer (1 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Lung cancer (all types), Breast cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (non-small cell lung carcinoma, breast cancer, medullary thyroid gland carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ERBB4 tissue","url":"https://www.proteinatlas.org/ENSG00000178568-ERBB4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas ERBB4 pathology","url":"https://www.proteinatlas.org/ENSG00000178568-ERBB4/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000178568 associations","url":"https://platform.opentargets.org/target/ENSG00000178568/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3432","ensembl":"ENSG00000178568","uniprot":"Q15303","entrez":"2066","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Plowman G.D. et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"Ligand-specific activation of HER4/p180erbB4, a fourth member of the epidermal growth factor receptor family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8383326/","biology":"Neuregulin receptor of the HER family; inhibited by pan-HER covalent inhibitors rather than by a dedicated drug.","whereFound":["EGFR-mutant non-small-cell lung cancer (as a pan-HER target)","HER2-positive breast cancer (as a pan-HER target)"],"targetClass":"kinase","prevalence":[{"cancerId":"melanoma","pct":19,"measure":"Somatic ERBB4 mutation, sequencing of 79 cutaneous metastatic melanomas","source":"https://doi.org/10.1038/ng.438","note":"Mutations increased kinase activity; mutant cells were sensitive to the ERBB inhibitor lapatinib"}]},{"id":"herpud1","kind":"target","name":"HERPUD1","aka":["homocysteine inducible ER protein with ubiquitin like domain 1","Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein","KIAA0025","Mif1","HERPUD1-IT1"],"tldr":"HERPUD1 (Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Could enhance presenilin-mediated amyloid-beta protein 40 generation. Binds to ubiquilins and this interaction is required for efficient degradation of CD3D via the ERAD pathway.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.56, somatic mutation 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13744","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13744"},{"label":"UniProt Q15011","url":"https://www.uniprot.org/uniprotkb/Q15011/entry"},{"label":"NCBI Gene 9709","url":"https://www.ncbi.nlm.nih.gov/gene/9709"},{"label":"Ensembl ENSG00000051108","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000051108"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HERPUD1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13744","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13744","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15011","url":"https://www.uniprot.org/uniprotkb/Q15011/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000051108","url":"https://platform.opentargets.org/target/ENSG00000051108/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:13744","ensembl":"ENSG00000051108","uniprot":"Q15011","entrez":"9709","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584026/","biology":"Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Could enhance presenilin-mediated amyloid-beta protein 40 generation. Binds to ubiquilins and this interaction is required for efficient degradation of CD3D via the ERAD pathway. Location: Endoplasmic reticulum membrane (UniProt). Locus 16q13 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"hey1","kind":"target","name":"HEY1","aka":["hes related family bHLH transcription factor with YRPW motif 1","Hairy/enhancer-of-split related with YRPW motif protein 1","HESR-1","CHF2","HESR1","HRT-1","CHF-2","HERP2","bHLHb31"],"tldr":"HEY1 (Hairy/enhancer-of-split related with YRPW motif protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Sarcomas and Chondrosarcoma.","summary":"Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Downstream effector of Notch signalling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4880","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4880"},{"label":"UniProt Q9Y5J3","url":"https://www.uniprot.org/uniprotkb/Q9Y5J3/entry"},{"label":"NCBI Gene 23462","url":"https://www.ncbi.nlm.nih.gov/gene/23462"},{"label":"Ensembl ENSG00000164683","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164683"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","chondrosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HEY1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4880","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4880","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y5J3","url":"https://www.uniprot.org/uniprotkb/Q9Y5J3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164683","url":"https://platform.opentargets.org/target/ENSG00000164683/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: sarcoma 0.54, chondrosarcoma 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4880","ensembl":"ENSG00000164683","uniprot":"Q9Y5J3","entrez":"23462","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kokubo et al, Biochem. Biophys. Res. Commun, 1999, \"Identification and expression of a novel family of bHLH cDNAs related to Drosophila hairy and enhancer of split\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10403790/","biology":"Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Downstream effector of Notch signalling required for cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY2 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3. Location: Nucleus (UniProt). Locus 8q21.13 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.54 with sarcoma (MONDO_0005089)","Chondrosarcoma: Open Targets association 0.52 with chondrosarcoma (MONDO_0008977)"],"targetClass":"transcription","prevalence":[]},{"id":"hgf","kind":"target","name":"HGF","aka":["hepatocyte growth factor","Hepatocyte growth factor","F-TCF","DFNB39"],"tldr":"HGF (Hepatocyte growth factor) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Gastric & gastro-oesophageal junction cancer, Skin cancer and 5 more.","summary":"Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerisation. Activates MAPK signalling following TMPRSS13 cleavage and activation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming MET Tyrosine Kinase Inhibitor SGX523. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes clinical 0.65, affected pathway 0.73, literature 1.00, genetic association 0.50, somatic mutation 0.83). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Small Cell Lung Cancer. In OnCo, 1 product record names it (Ficlatuzumab).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4893","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4893"},{"label":"UniProt P14210","url":"https://www.uniprot.org/uniprotkb/P14210/entry"},{"label":"NCBI Gene 3082","url":"https://www.ncbi.nlm.nih.gov/gene/3082"},{"label":"Ensembl ENSG00000019991","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000019991"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","gastric","skin-cancer","ovarian","glioblastoma","sclc","melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["ficlatuzumab"],"companies":[],"institutions":[],"pathways":["invasion-ecm-degradation","proteoglycans-in-cancer","renal-cell-carcinoma-signalling","rtk-activation"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.65; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HGF","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4893","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4893","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14210","url":"https://www.uniprot.org/uniprotkb/P14210/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HGF","url":"https://civicdb.org/features/2591","note":"1 evidence items, 0 assertions, 1 variants; diseases: Glioblastoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000019991","url":"https://platform.opentargets.org/target/ENSG00000019991/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.54, gastric cancer 0.59, ovarian cancer 0.51, melanoma 0.55, skin cancer 0.55, lung cancer 0.62 (GraphQL API, CC0)"},{"label":"IntOGen HGF","url":"https://www.intogen.org/search?gene=HGF","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"lineage-antigen","distribution":"many-types","specificityNote":"Lineage antigen shared with normal granulocytes: HPA finds the gene lineage enriched in that blood lineage, and the 1 medicine aimed at it (Ficlatuzumab) act on the wild-type protein, so the normal lineage is hit too. HPA HGF: RNA tissue enriched (placenta 293 nTPM); blood lineage lineage enriched (granulocytes 95 nTPM); no normal tissue stained high; highest cancer staining breast cancer (2 of 11 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Gastric & gastro-oesophageal junction cancer, Skin cancer (all types), Ovarian cancer, Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HGF tissue","url":"https://www.proteinatlas.org/ENSG00000019991-HGF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HGF pathology","url":"https://www.proteinatlas.org/ENSG00000019991-HGF/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000019991 associations","url":"https://platform.opentargets.org/target/ENSG00000019991/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4893","ensembl":"ENSG00000019991","uniprot":"P14210","entrez":"3082","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miyazawa et al, Biochem. Biophys. Res. Commun, 1989, \"Molecular cloning and sequence analysis of cDNA for human hepatocyte growth factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2528952/","biology":"Potent mitogen for mature parenchymal hepatocyte cells, seems to be a hepatotrophic factor, and acts as a growth factor for a broad spectrum of tissues and cell types. Activating ligand for the receptor tyrosine kinase MET by binding to it and promoting its dimerisation. Activates MAPK signalling following TMPRSS13 cleavage and activation. Locus 7q21.11 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.62 with lung cancer (MONDO_0008903)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.59 with gastric cancer (MONDO_0001056)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)","Glioma & glioblastoma: CIViC evidence names this disease","Small-cell lung cancer: IntOGen driver in 1 cohort (SCLC)"],"targetClass":"oncogene","prevalence":[]},{"id":"hhip","kind":"target","name":"HHIP","aka":["hedgehog interacting protein","Hedgehog-interacting protein","FLJ20992"],"tldr":"HHIP (Hedgehog-interacting protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Modulates hedgehog signalling in several cell types including brain and lung through direct interaction with members of the hedgehog family.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.96, animal model 0.40, genetic association 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14866","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14866"},{"label":"UniProt Q96QV1","url":"https://www.uniprot.org/uniprotkb/Q96QV1/entry"},{"label":"NCBI Gene 64399","url":"https://www.ncbi.nlm.nih.gov/gene/64399"},{"label":"Ensembl ENSG00000164161","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164161"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HHIP","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:14866","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14866","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96QV1","url":"https://www.uniprot.org/uniprotkb/Q96QV1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164161","url":"https://platform.opentargets.org/target/ENSG00000164161/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: colorectal cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:14866","ensembl":"ENSG00000164161","uniprot":"Q96QV1","entrez":"64399","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Huo et al, Gene Funct. Dis, 2000, \"Determination of the chromosomal location and genomic structure of the Hedgehog-interacting protein gene, and analysis of its role in holoprosencephaly\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96QV1/entry","biology":"Modulates hedgehog signalling in several cell types including brain and lung through direct interaction with members of the hedgehog family. Location: Cell membrane; Secreted; Cytoplasm (UniProt). Locus 4q31.21 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"hhla2","kind":"target","name":"HHLA2 (B7-H7)","aka":["B7-H7","B7H7","B7-H5","B7y","HHLA2 member of B7 family"],"tldr":"HHLA2 is a B7 relative found on gut, kidney and lung tissue and on many tumours; it can both encourage and restrain T cells depending on the receptor. No drug against it is in the corpus yet.","summary":"HHLA2 (chromosome 3q13.13) costimulates T cells through TMIGD2 in the context of TCR-mediated activation, enhancing proliferation and cytokine production through an AKT-dependent cascade; it is expressed at high levels in colon, kidney, testis, lung and pancreas, at lower levels in small intestine, liver and skeletal muscle, and among immune cells in B cells, dendritic cells and macrophages but not T cells (UniProt Q9UM44). B7-H3, B7x and HHLA2 form the third group of the B7-CD28 family, with antagonistic antibodies and agonistic fusion proteins emerging (Janakiram et al. 2017, Immunol Rev).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:4905","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4905"},{"label":"UniProt Q9UM44","url":"https://www.uniprot.org/uniprotkb/Q9UM44/entry"},{"label":"NCBI Gene 11148","url":"https://www.ncbi.nlm.nih.gov/gene/11148"},{"label":"Janakiram et al. 2017, Immunol Rev (Europe PMC)","url":"https://europepmc.org/article/MED/28258693"}],"tags":["checkpoint-map"],"related":["b7h3","b7h4","cd28"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"HHLA2","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:4905","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4905","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt Q9UM44","url":"https://www.uniprot.org/uniprotkb/Q9UM44/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:4905","ensembl":"ENSG00000114455","uniprot":"Q9UM44","entrez":"11148","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mager D.L. et al, Genomics, 1999, \"Endogenous retroviruses provide the primary polyadenylation signal for two new human genes (HHLA2 and HHLA3)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10444326/","biology":"A group III B7 family member; its costimulatory receptor is TMIGD2 (CD28H).","whereFound":["Colon, kidney, testis, lung, pancreas; B cells, dendritic cells, macrophages (UniProt Q9UM44)"],"targetClass":"checkpoint","prevalence":[]},{"id":"hif1a","kind":"target","name":"HIF-1α (HIF1A)","aka":["HIF-1","HIF-1 alpha","HIF1","MOP1","hypoxia inducible factor 1 subunit alpha"],"tldr":"HIF-1α is the sensor that lets a tumour cope with low oxygen by switching on blood-vessel growth and sugar burning. It has no direct drug yet; belzutifan hits its sibling HIF-2α, and the mTOR inhibitor temsirolimus lowers HIF-1α levels indirectly.","summary":"HIF1A (chromosome 14q23.2) encodes the oxygen-regulated subunit of hypoxia-inducible factor 1, the master transcriptional regulator of the adaptive response to hypoxia: under low oxygen it activates more than 40 genes including erythropoietin, glucose transporters, glycolytic enzymes and VEGF, heterodimerises with ARNT (HIF-1β) to bind DNA, and is essential for embryonic vascularisation, tumour angiogenesis and ischaemic disease (UniProt Q16665). The VHL/HIF pathway record explains that prolyl hydroxylases mark HIF-α for VHL-dependent destruction in normoxia and that VHL loss in most clear-cell renal cancers lets HIF-α accumulate. In OnCo, HIF-1α is named as the isoform belzutifan does not target (belzutifan stops HIF-2α dimerising with HIF-1β) and as the protein whose translation temsirolimus reduces by inhibiting mTORC1.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:4910","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4910"},{"label":"UniProt Q16665","url":"https://www.uniprot.org/uniprotkb/Q16665/entry"},{"label":"NCBI Gene 3091","url":"https://www.ncbi.nlm.nih.gov/gene/3091"}],"tags":["wave5-target"],"related":["belzutifan","temsirolimus","hif2a","mtor","vegf"],"cancers":["rcc","clear-cell-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hif-vhl","angiogenic-switch","cancer-metabolism","renal-cell-carcinoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"HIF1A","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:4910","ensembl":"ENSG00000100644","uniprot":"Q16665","entrez":"3091","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang G.L. et al, Proc. Natl. Acad. Sci. U.S.A, 1995, \"Hypoxia-inducible factor 1 is a basic-helix-loop-helix-PAS heterodimer regulated by cellular O2 tension\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7539918/","biology":"HIF-1α and HIF-2α share the ARNT partner and many hypoxia genes; the pathway record calls HIF-2α the oncogenic paralogue in renal cell carcinoma, which is why the approved inhibitor was built for that isoform and HIF-1α remains without a direct drug in the corpus.","whereFound":["Hypoxic regions of solid tumours","Clear-cell renal cell carcinoma (VHL loss stabilises HIF-α)"],"targetClass":"transcription","prevalence":[]},{"id":"hif2a","kind":"target","name":"HIF-2α","aka":[],"tldr":"A master switch that kidney cancer cells leave permanently on when they lose the VHL gene; belzutifan blocks it.","summary":"HIF-2α (EPAS1) is a transcription factor normally degraded by VHL; when VHL is lost, as in roughly 85 to 90 percent of clear-cell renal cell carcinomas, HIF-2α is permanently stabilised and drives VEGF, glycolysis and proliferation genes. Belzutifan (Welireg) binds the HIF-2α PAS-B pocket and prevents its pairing with ARNT. It is approved in VHL disease-associated tumours, in advanced RCC after immunotherapy and a VEGF tyrosine kinase inhibitor (LITESPARK-005), and from 2026 as adjuvant therapy with pembrolizumab in clear-cell RCC; it is also approved in pheochromocytoma and paraganglioma. Anaemia and hypoxia, which follow directly from suppressing erythropoietin, are the expected on-target effects. Combinations with VEGF inhibitors and immunotherapy in earlier lines are under study. It is the master switch kidney cancer leaves on, and belzutifan turns it down.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/EPAS1","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/EPAS1"}],"tags":["transcription"],"related":[],"cancers":["rcc"],"sections":[],"technologies":[],"targets":[],"drugs":["belzutifan"],"companies":[],"institutions":[],"pathways":["hif-vhl","renal-cell-carcinoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"EPAS1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Kidney Renal Clear Cell Carcinoma (TCGA)) and tissue enhanced in normal lung, placenta, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA EPAS1: RNA tissue enhanced (lung 389 nTPM, placenta 419 nTPM); blood lineage lineage enriched (granulocytes 21 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma); approvals of single-target medicines aimed at it also list Brain and spinal cord tumours (all types), Neuroendocrine tumours, Pheochromocytoma and paraganglioma (PPGL), not counted; Open Targets associates it with 1 specific cancer type at or above 0.5 (renal cell carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas EPAS1 tissue","url":"https://www.proteinatlas.org/ENSG00000116016-EPAS1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas EPAS1 pathology","url":"https://www.proteinatlas.org/ENSG00000116016-EPAS1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116016 associations","url":"https://platform.opentargets.org/target/ENSG00000116016/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3374","ensembl":"ENSG00000116016","uniprot":"Q99814","entrez":"2034","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tian et al, Genes Dev, 1997, \"Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9000051/","biology":"Transcription factor stabilised by VHL loss; drives VEGF, glycolysis, and proliferation genes.","whereFound":["Clear-cell RCC","VHL disease","Pheochromocytoma"],"targetClass":"transcription","prevalence":[{"cancerId":"rcc","pct":"85-90","measure":"VHL inactivation in clear-cell RCC","source":"https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018"}]},{"id":"hip1","kind":"target","name":"HIP1","aka":["huntingtin interacting protein 1","Huntingtin-interacting protein 1","ILWEQ"],"tldr":"HIP1 (Huntingtin-interacting protein 1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Breast cancer, Lung cancer and 3 more.","summary":"Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner. Regulates presynaptic nerve terminal activity.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes affected pathway 0.83, literature 0.86, genetic association 0.00, somatic mutation 0.83, animal model 0.62). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Medulloblastoma, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumour, Upper Tract Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4913","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4913"},{"label":"UniProt O00291","url":"https://www.uniprot.org/uniprotkb/O00291/entry"},{"label":"NCBI Gene 3092","url":"https://www.ncbi.nlm.nih.gov/gene/3092"},{"label":"Ensembl ENSG00000127946","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127946"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","breast-cancer","lung-cancer","skin-cancer","medulloblastoma","uterine-carcinosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HIP1","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4913","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4913","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00291","url":"https://www.uniprot.org/uniprotkb/O00291/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000127946","url":"https://platform.opentargets.org/target/ENSG00000127946/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: skin cancer 0.50, breast cancer 0.56, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen HIP1","url":"https://www.intogen.org/search?gene=HIP1","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4913","ensembl":"ENSG00000127946","uniprot":"O00291","entrez":"3092","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kalchman M.A. et al, Nat. Genet, 1997, \"HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9140394/","biology":"Plays a role in clathrin-mediated endocytosis and trafficking. Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner. Regulates presynaptic nerve terminal activity. Enhances androgen receptor (AR)-mediated transcription. May act as a proapoptotic protein that induces cell death by acting through the intrinsic apoptosis pathway. Binds 3-phosphoinositides (via ENTH domain). Location: Cytoplasm; Nucleus; Endomembrane system; Cytoplasmic vesicle, clathrin-coated vesicle membrane (UniProt). Locus 7q11.23 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Medulloblastoma: IntOGen driver in 1 cohort (MBL)","Uterine carcinosarcoma: IntOGen driver in 1 cohort (UCS)"],"targetClass":"transcription","prevalence":[]},{"id":"hdac","kind":"target","name":"Histone deacetylases (HDAC)","aka":[],"tldr":"Histone deacetylases tighten the packaging of DNA so that genes are switched off. Drugs that block them loosen the packaging and can wake up genes that make lymphoma cells stop growing or die.","summary":"Histone deacetylases remove acetyl groups from lysines on histones and on non-histone proteins such as p53, HSP90 and tubulin, condensing chromatin and repressing transcription. Class I (HDAC1, 2, 3, 8) and class II (HDAC4 to 7, 9, 10) enzymes are the targets of approved inhibitors: vorinostat and romidepsin in cutaneous T-cell lymphoma, belinostat and romidepsin in peripheral T-cell lymphoma, and panobinostat (US approval withdrawn) in multiple myeloma. Responses are modest as single agents in solid tumours; combinations with immunotherapy and with hypomethylating agents are under study.","asOf":"2026-09-10","wikipedia":"https://en.wikipedia.org/wiki/Histone_deacetylase","links":[{"label":"NCBI Gene HDAC1","url":"https://www.ncbi.nlm.nih.gov/gene/3065"}],"tags":["epigenetic"],"related":[],"cancers":["peripheral-t-cell-lymphoma","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":["romidepsin","belinostat","vorinostat","abt-301"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded as a positivity rate: HDACs are expressed in essentially all cells and HDAC inhibitors are not selected on target expression. Published series report continuous or cutoff-dependent expression rather than a positivity rate: Mithraprabhu 2014 found HDAC1 protein detectable in most myeloma trephines and compared >=90% with <=20% cell positivity for prognosis (doi:10.4161/15592294.2014.983367); Min 2012 graded HDAC1-3 expression in 13 PTCL-NOS and 78 DLBCL (doi:10.4132/KoreanJPathol.2012.46.2.142)."],"symbol":"HDAC1, HDAC2, HDAC3, HDAC6","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists HDAC3 among essential proteins and finds the RNA at low tissue specificity; the 5 medicines aimed at it (Romidepsin, Belinostat, Vorinostat and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA HDAC1: RNA low tissue specificity; high antibody staining in 19 normal tissues; highest cancer staining thyroid cancer (4 of 4 high). HPA HDAC2: RNA low tissue specificity; high antibody staining in 38 normal tissues; highest cancer staining colorectal cancer (12 of 12 high). HPA HDAC3: RNA low tissue specificity; high antibody staining in 4 normal tissues; highest cancer staining head and neck cancer (1 of 4 high). HPA HDAC6: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining liver cancer (1 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma); Open Targets associates it with 5 specific cancer types at or above 0.5 (primary cutaneous T-cell non-Hodgkin lymphoma, plasma cell myeloma, T-cell non-Hodgkin lymphoma, peripheral T-cell lymphoma, not otherwise specified, mature T-cell and NK-cell non-Hodgkin lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HDAC1 tissue","url":"https://www.proteinatlas.org/ENSG00000116478-HDAC1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HDAC2 tissue","url":"https://www.proteinatlas.org/ENSG00000196591-HDAC2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HDAC3 tissue","url":"https://www.proteinatlas.org/ENSG00000171720-HDAC3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HDAC6 tissue","url":"https://www.proteinatlas.org/ENSG00000094631-HDAC6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116478 associations","url":"https://platform.opentargets.org/target/ENSG00000116478/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000196591 associations","url":"https://platform.opentargets.org/target/ENSG00000196591/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Inhibition causes histone hyperacetylation, cell-cycle arrest via p21 induction, apoptosis and reduced angiogenesis; class-related toxicities are fatigue, thrombocytopenia, diarrhoea and QT prolongation.","whereFound":["Cutaneous T-cell lymphoma","Peripheral T-cell lymphoma","Multiple myeloma (panobinostat)"],"targetClass":"enzyme","prevalence":[]},{"id":"h3-3a","kind":"target","name":"Histone H3.3 (H3-3A)","aka":["H3F3A","H3.3 histone A","histone H3.3"],"tldr":"H3.3 is one of the histone proteins DNA wraps around; a single change at position 27 (K27M) locks brain-stem and midline gliomas in an immature state and defines the diagnosis.","summary":"H3-3A (formerly H3F3A) encodes the replication-independent histone variant H3.3. The K27M substitution, and the rarer G34R/V, are the defining alterations of diffuse midline glioma, H3 K27-altered in the WHO 2021 classification, most often in the pons (DIPG), thalamus and spinal cord of children. The same mutation is found in H3-3B (H3F3B) and HIST1H3B. Dordaviprone, approved in 2025, is the first drug whose label names the H3 K27M mutation; the readout page carries the label wording and the testing route.","asOf":"2026-09-23","wikipedia":"https://en.wikipedia.org/wiki/H3F3A","links":[{"label":"HGNC HGNC:4764","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4764"},{"label":"UniProt P84243","url":"https://www.uniprot.org/uniprotkb/P84243/entry"}],"tags":["biomarker-parent"],"related":["h3-k27m"],"cancers":["dipg-dmg","paediatric-high-grade-glioma"],"sections":[],"technologies":[],"targets":[],"drugs":["dordaviprone"],"companies":[],"institutions":[],"pathways":[],"terms":["h3k27m"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"H3-3A","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (H3 K27M mutation) absent from normal cells. HPA H3-3A: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 4,496 nTPM); high antibody staining in 44 normal tissues; highest cancer staining glioma (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (glioma). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"H3 K27M mutation label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=ad45b43e-fdef-47ad-9c34-055b41bdc576","note":"H3 K27M mutation, progressive disease after prior therapy"},{"label":"Human Protein Atlas H3-3A tissue","url":"https://www.proteinatlas.org/ENSG00000163041-H3-3A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163041 associations","url":"https://platform.opentargets.org/target/ENSG00000163041/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4764","ensembl":"ENSG00000163041","uniprot":"P84243","entrez":"3020","firstDescribed":1981,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohe et al, J. Biochem, 1981, \"Human spleen histone H3. Isolation and amino acid sequence\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7309716/","biology":"K27M inhibits the PRC2 methyltransferase EZH2, collapsing global H3K27 trimethylation and blocking differentiation; the mutant histone is detected by a mutation-specific antibody or by sequencing.","whereFound":["Diffuse midline glioma including DIPG (H3 K27M)","Paediatric high-grade glioma (H3 G34)"],"targetClass":"other","prevalence":[]},{"id":"hla-a","kind":"target","name":"HLA-A","aka":["HLA-A*02","HLA-A*02:01","major histocompatibility complex, class I, A"],"tldr":"HLA-A is the molecule that holds up short pieces of a cell's proteins for T cells to inspect. Engineered T-cell receptor therapies such as tebentafusp and afami-cel only work in people with the HLA-A*02 variant, because the receptor recognises the tumour peptide sitting in that particular groove.","summary":"HLA-A (chromosome 6p22.1) is a class I MHC molecule that, with beta-2-microglobulin, displays mainly viral and tumour-derived peptides for recognition by the alpha-beta T-cell receptor on HLA-A-restricted CD8 T cells, guiding the response that eliminates infected or transformed cells; it can also present self-peptides from signal sequences, to which T cells are normally inactivated (UniProt P04439). It matters in oncology because TCR-based drugs are allele-specific: tebentafusp (gp100 peptide on HLA-A*02:01, approved 2022 for uveal melanoma), afamitresgene autoleucel (MAGE-A4 230-239 peptide on HLA-A*02, approved for synovial sarcoma), letetresgene autoleucel (NY-ESO-1/LAGE-1a on HLA-A*02) and brenetafusp (PRAME on HLA-A*02:01) all require the HLA-A*02 genotype as well as antigen expression.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:4931","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4931"},{"label":"UniProt P04439","url":"https://www.uniprot.org/uniprotkb/P04439/entry"},{"label":"NCBI Gene 3105","url":"https://www.ncbi.nlm.nih.gov/gene/3105"}],"tags":["wave5-target"],"related":["gp100","mage-a4","prame","cd3","hla-a-02-01"],"cancers":["uveal-melanoma","melanoma","synovial-sarcoma","sarcoma"],"sections":[],"technologies":["tcr-t"],"targets":[],"drugs":["tebentafusp","afamitresgene-autoleucel","letetresgene-autoleucel","brenetafusp"],"companies":[],"institutions":[],"pathways":["antigen-presentation-immunoediting","cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"HLA-A","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 4 cell-killing or cell-finding medicines (Tebentafusp, Afamitresgene autoleucel, Letetresgene autoleucel and more) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA HLA-A: RNA low tissue specificity; no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HLA-A tissue","url":"https://www.proteinatlas.org/ENSG00000206503-HLA-A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HLA-A pathology","url":"https://www.proteinatlas.org/ENSG00000206503-HLA-A/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000206503 associations","url":"https://platform.opentargets.org/target/ENSG00000206503/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4931","ensembl":"ENSG00000206503","uniprot":"P04439","entrez":"3105","firstDescribed":1979,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Orr H.T. et al, Proc. Natl. Acad. Sci. U.S.A, 1979, \"Comparison of amino acid sequences of two human histocompatibility antigens, HLA-A2 and HLA-B7: location of putative alloantigenic sites\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/92029/","biology":"The antigen-presentation pathway record describes the escape routes: tumours that lose beta-2-microglobulin or HLA stop showing peptides and become invisible to CD8 T cells and to these therapies, and the HLA genotype shapes which mutations are visible at all.","whereFound":["Eligibility marker (HLA-A*02) for TCR-T and soluble TCR therapies in uveal melanoma, synovial sarcoma and myxoid/round cell liposarcoma","All nucleated cells (antigen presentation)"],"targetClass":"surface-antigen","prevalence":[]},{"id":"hla-b","kind":"target","name":"HLA-B","aka":["major histocompatibility complex, class I, B","HLA class I histocompatibility antigen, B alpha chain"],"tldr":"HLA-B (HLA class I histocompatibility antigen, B alpha chain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Cervical cancer, Oesophageal cancer, Head and neck squamous cell carcinoma and 3 more.","summary":"Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumour-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-B-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells. May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usually inactivated to prevent autoreactivity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.86, animal model 0.48, genetic association 0.00, somatic mutation 0.80). IntOGen calls it a driver in 6 cohorts (0 activating, 6 loss-of-function), covering Cervical Squamous Cell Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Oesophageal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Malignant Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4932","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932"},{"label":"UniProt P01889","url":"https://www.uniprot.org/uniprotkb/P01889/entry"},{"label":"NCBI Gene 3106","url":"https://www.ncbi.nlm.nih.gov/gene/3106"},{"label":"Ensembl ENSG00000234745","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000234745"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["cervical","esophageal","head-and-neck","non-hodgkin-lymphoma","dlbcl","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HLA-B","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4932","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4932","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01889","url":"https://www.uniprot.org/uniprotkb/P01889/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HLA-B","url":"https://civicdb.org/features/2607","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000234745","url":"https://platform.opentargets.org/target/ENSG00000234745/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"},{"label":"IntOGen HLA-B","url":"https://www.intogen.org/search?gene=HLA-B","note":"driver in 6 cohorts (Act 0, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA HLA-B: RNA tissue enhanced (lymphoid tissue 2,350 nTPM); high antibody staining in 24 normal tissues; highest cancer staining liver cancer (9 of 12 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Cervical cancer, Oesophageal cancer, Head and neck squamous cell carcinoma, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P01889","url":"https://www.uniprot.org/uniprotkb/P01889/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HLA-B","url":"https://civicdb.org/features/2607","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen HLA-B","url":"https://www.intogen.org/search?gene=HLA-B","note":"driver in 6 cohorts (Act 0, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas HLA-B tissue","url":"https://www.proteinatlas.org/ENSG00000234745-HLA-B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000234745 associations","url":"https://platform.opentargets.org/target/ENSG00000234745/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4932","ensembl":"ENSG00000234745","uniprot":"P01889","entrez":"3106","firstDescribed":1979,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Orr H.T. et al, Biochemistry, 1979, \"Complete amino acid sequence of a papain-solubilized human histocompatibility antigen, HLA-B7. 2. Sequence determination and search for homologies\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/518865/","biology":"Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumour-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-B-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells. May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usually inactivated to prevent autoreactivity. Both the peptide and the MHC molecule are recognised by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells. Typically presents intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via constitutive proteasome and IFNG-induced immunoproteasome. Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9. Location: Cell membrane; Endoplasmic reticulum membrane (UniProt). Locus 6p21.33 (HGNC).","whereFound":["Cervical cancer: IntOGen driver in 1 cohort (CESC)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (MLYM)","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 2 cohorts (DLBCLNOS)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"hla-c","kind":"target","name":"HLA-C","aka":["major histocompatibility complex, class I, C","HLA class I histocompatibility antigen, C alpha chain","HLA-JY3","D6S204","PSORS1"],"tldr":"HLA-C (HLA class I histocompatibility antigen, C alpha chain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Diffuse large B-cell lymphoma.","summary":"Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity. In complex with B2M/beta 2 microglobulin displays a restricted repertoire of self and viral peptides and acts as a dominant ligand for inhibitory and activating killer immunoglobulin receptors (KIRs) expressed on NK cells. In an allogeneic setting, such as during pregnancy, mediates interaction of extravillous trophoblasts with KIR on uterine NK cells and regulate trophoblast invasion necessary for placentation and overall fetal growth.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Therapeutic Tumour Infiltrating Lymphocytes. IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4933","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4933"},{"label":"UniProt P10321","url":"https://www.uniprot.org/uniprotkb/P10321/entry"},{"label":"NCBI Gene 3107","url":"https://www.ncbi.nlm.nih.gov/gene/3107"},{"label":"Ensembl ENSG00000204525","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204525"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["colorectal","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HLA-C","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4933","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4933","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10321","url":"https://www.uniprot.org/uniprotkb/P10321/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HLA-C","url":"https://civicdb.org/features/2608","note":"2 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen HLA-C","url":"https://www.intogen.org/search?gene=HLA-C","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA HLA-C: RNA tissue enhanced (lymphoid tissue 1,378 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P10321","url":"https://www.uniprot.org/uniprotkb/P10321/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HLA-C","url":"https://civicdb.org/features/2608","note":"2 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen HLA-C","url":"https://www.intogen.org/search?gene=HLA-C","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas HLA-C tissue","url":"https://www.proteinatlas.org/ENSG00000204525-HLA-C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000204525 associations","url":"https://platform.opentargets.org/target/ENSG00000204525/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4933","ensembl":"ENSG00000204525","uniprot":"P10321","entrez":"3107","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cianetti et al, Immunogenetics, 1989, \"Three new class I HLA alleles: structure of mRNAs and alternative mechanisms of processing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2914713/","biology":"Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity. In complex with B2M/beta 2 microglobulin displays a restricted repertoire of self and viral peptides and acts as a dominant ligand for inhibitory and activating killer immunoglobulin receptors (KIRs) expressed on NK cells. In an allogeneic setting, such as during pregnancy, mediates interaction of extravillous trophoblasts with KIR on uterine NK cells and regulate trophoblast invasion necessary for placentation and overall fetal growth. During viral infection, may present viral peptides with low affinity for KIRs, impeding KIR-mediated inhibition through peptide antagonism and favoring lysis of infected cells. Presents a restricted repertoire of viral peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-C-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected cells, particularly in chronic viral infection settings such as HIV-1 or CMV infection. Both the peptide and the MHC molecule are recognised by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells. Location: Cell membrane; Endoplasmic reticulum membrane (UniProt). Locus 6p21.33 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"hla-dqa1","kind":"target","name":"HLA-DQA1","aka":["major histocompatibility complex, class II, DQ alpha 1","HLA class II histocompatibility antigen, DQ alpha 1 chain","CELIAC1","HLA-DQA"],"tldr":"HLA-DQA1 (HLA class II histocompatibility antigen, DQ alpha 1 chain) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma and Pleural mesothelioma.","summary":"Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4942","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4942"},{"label":"UniProt P01909","url":"https://www.uniprot.org/uniprotkb/P01909/entry"},{"label":"NCBI Gene 3117","url":"https://www.ncbi.nlm.nih.gov/gene/3117"},{"label":"Ensembl ENSG00000196735","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196735"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["mesothelioma","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HLA-DQA1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4942","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4942","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01909","url":"https://www.uniprot.org/uniprotkb/P01909/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen HLA-DQA1","url":"https://www.intogen.org/search?gene=HLA-DQA1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4942","ensembl":"ENSG00000196735","uniprot":"P01909","entrez":"3117","firstDescribed":1982,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Auffray et al, Proc. Natl. Acad. Sci. U.S.A, 1982, \"cDNA clone for the heavy chain of the human B cell alloantigen DC1: strong sequence homology to the HLA-DR heavy chain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6815651/","biology":"Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. Location: Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus, trans-Golgi network membrane; Endosome membrane (UniProt). Locus 6p21.32 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"oncogene","prevalence":[]},{"id":"hla-dra","kind":"target","name":"HLA-DRA","aka":["major histocompatibility complex, class II, DR alpha","HLA class II histocompatibility antigen, DR alpha chain","HLA-DRA1"],"tldr":"HLA-DRA (HLA class II histocompatibility antigen, DR alpha chain) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"An alpha chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the beta chain HLA-DRB, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DR-restricted CD4-positive T cells. This guides antigen-specific T-helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Nivolumab, Pembrolizumab and Atezolizumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4947","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4947"},{"label":"UniProt P01903","url":"https://www.uniprot.org/uniprotkb/P01903/entry"},{"label":"NCBI Gene 3122","url":"https://www.ncbi.nlm.nih.gov/gene/3122"},{"label":"Ensembl ENSG00000204287","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204287"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HLA-DRA","role":["drug-target","biomarker","immune-checkpoint"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4947","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4947","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01903","url":"https://www.uniprot.org/uniprotkb/P01903/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HLA-DRA","url":"https://civicdb.org/features/2622","note":"1 evidence items, 0 assertions, 1 variants; diseases: Skin Melanoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HLA-DRA: RNA tissue enhanced (lung 931 nTPM, lymphoid tissue 1,197 nTPM); blood lineage group enriched (B-cells 420 nTPM, dendritic cells 231 nTPM, monocytes 409 nTPM); high antibody staining in 10 normal tissues; highest cancer staining lymphoma (4 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HLA-DRA tissue","url":"https://www.proteinatlas.org/ENSG00000204287-HLA-DRA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000204287 associations","url":"https://platform.opentargets.org/target/ENSG00000204287/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4947","ensembl":"ENSG00000204287","uniprot":"P01903","entrez":"3122","firstDescribed":1982,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee J.S. et al, Nature, 1982, \"Sequence of an HLA-DR alpha-chain cDNA clone and intron-exon organization of the corresponding gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6811954/","biology":"An alpha chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. In complex with the beta chain HLA-DRB, displays antigenic peptides on professional antigen presenting cells (APCs) for recognition by alpha-beta T cell receptor (TCR) on HLA-DR-restricted CD4-positive T cells. This guides antigen-specific T-helper effector functions, both antibody-mediated immune response and macrophage activation, to ultimately eliminate the infectious agents and transformed cells. Typically presents extracellular peptide antigens of 10 to 30 amino acids that arise from proteolysis of endocytosed antigens in lysosomes. In the tumour microenvironment, presents antigenic peptides that are primarily generated in tumour-resident APCs likely via phagocytosis of apoptotic tumour cells or macropinocytosis of secreted tumour proteins. Presents peptides derived from intracellular proteins that are trapped in autolysosomes after macroautophagy, a mechanism especially relevant for T cell selection in the thymus and central immune tolerance. Location: Cell membrane; Endoplasmic reticulum membrane; Early endosome membrane; Late endosome membrane (UniProt). Locus 6p21.32 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"hla-e","kind":"target","name":"HLA-E","aka":["major histocompatibility complex, class I, E","HLA class I histocompatibility antigen, alpha chain E"],"tldr":"HLA-E is the self badge that NKG2A on NK cells reads. Tumours raise it to escape NK cells; monalizumab blocks the reader rather than the badge.","summary":"HLA-E (chromosome 6p22.1) is a non-classical MHC class Ib molecule involved in self versus non-self discrimination that, with beta-2 microglobulin, binds nonamer signal-sequence peptides from classical class Ia molecules and is read by the CD94/NKG2A inhibitory receptor (UniProt P13747). Outside lymphoid tissue its expression is restricted to endothelial cells of all vessel types; in lymphoid organs it is expressed on endothelial venules, B and T cells, monocytes, macrophages, NK cells and megakaryocytes (protein level).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:4962","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4962"},{"label":"UniProt P13747","url":"https://www.uniprot.org/uniprotkb/P13747/entry"},{"label":"NCBI Gene 3133","url":"https://www.ncbi.nlm.nih.gov/gene/3133"}],"tags":["checkpoint-map"],"related":["klrc1","monalizumab","hla-a"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"HLA-E","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:4962","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4962","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P13747","url":"https://www.uniprot.org/uniprotkb/P13747/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:4962","ensembl":"ENSG00000204592","uniprot":"P13747","entrez":"3133","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mizuno et al, J. Immunol, 1988, \"Isolation and nucleotide sequence of a cDNA clone encoding a novel HLA class I gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3131426/","biology":"The ligand of NKG2A (KLRC1); the same complex can activate through NKG2C.","whereFound":["Endothelium; lymphoid B and T cells, monocytes, macrophages, NK cells (UniProt P13747)"],"targetClass":"checkpoint","prevalence":[]},{"id":"hlf","kind":"target","name":"HLF","aka":["HLF transcription factor, PAR bZIP family member","Transcription factor HLF","MGC33822"],"tldr":"HLF (Transcription factor HLF) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"Transcription factor which selectively binds with high affinity to the consensus sequence 5'-GTTACGTAAT-3' and to closely related sites. Has transcriptional activator activity. Also has transcriptional repressor activity.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.20, somatic mutation 0.82).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4977","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4977"},{"label":"UniProt Q16534","url":"https://www.uniprot.org/uniprotkb/Q16534/entry"},{"label":"NCBI Gene 3131","url":"https://www.ncbi.nlm.nih.gov/gene/3131"},{"label":"Ensembl ENSG00000108924","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108924"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HLF","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4977","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4977","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16534","url":"https://www.uniprot.org/uniprotkb/Q16534/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108924","url":"https://platform.opentargets.org/target/ENSG00000108924/associations","note":"association with cancer (MONDO_0004992) 0.65;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4977","ensembl":"ENSG00000108924","uniprot":"Q16534","entrez":"3131","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hunger S.P. et al, Genes Dev, 1992, \"Hlf, a novel hepatic bZIP protein, shows altered DNA-binding properties following fusion to E2A in t(17;19) acute lymphoblastic leukemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1516826/","biology":"Transcription factor which selectively binds with high affinity to the consensus sequence 5'-GTTACGTAAT-3' and to closely related sites. Has transcriptional activator activity. Also has transcriptional repressor activity. Binds to multiple sites in the promoter regions of coagulation factors F8 and F9 and activates transcription; transactivation activity is enhanced by formation of a heterodimer with DBP. Binds to the promoter region of IRF2 and activates transcription. Maintains quiescence of haematopoietic stem cells under steady-state conditions and protects the stem cell pool from toxic insults. Location: Nucleus (UniProt). Locus 17q22 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"hmga1","kind":"target","name":"HMGA1","aka":["high mobility group AT-hook 1","High mobility group protein HMG-I/HMG-Y","HMGIY"],"tldr":"HMGA1 (High mobility group protein HMG-I/HMG-Y) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3'-end processing of mRNA transcripts. They are also involved in the transcription regulation of genes containing, or in close proximity to A+T-rich regions.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.99, animal model 0.55, genetic association 0.37, somatic mutation 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5010"},{"label":"UniProt P17096","url":"https://www.uniprot.org/uniprotkb/P17096/entry"},{"label":"NCBI Gene 3159","url":"https://www.ncbi.nlm.nih.gov/gene/3159"},{"label":"Ensembl ENSG00000137309","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137309"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HMGA1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5010","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P17096","url":"https://www.uniprot.org/uniprotkb/P17096/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137309","url":"https://platform.opentargets.org/target/ENSG00000137309/associations","note":"association with cancer (MONDO_0004992) 0.65;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5010","ensembl":"ENSG00000137309","uniprot":"P17096","entrez":"3159","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lund et al, Biochem. Biophys. Res. Commun, 1987, \"The human chromosomal protein HMG I contains two identical palindrome amino acid sequences\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3619901/","biology":"HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3'-end processing of mRNA transcripts. They are also involved in the transcription regulation of genes containing, or in close proximity to A+T-rich regions. Location: Nucleus; Chromosome (UniProt). Locus 6p21.31 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"hmga2","kind":"target","name":"HMGA2","aka":["high mobility group AT-hook 2","High mobility group protein HMGI-C","HMGIC"],"tldr":"HMGA2 (High mobility group protein HMGI-C) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Breast cancer and Oral cavity cancer.","summary":"Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 1.00, animal model 0.36, genetic association 0.49, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5009","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5009"},{"label":"UniProt P52926","url":"https://www.uniprot.org/uniprotkb/P52926/entry"},{"label":"NCBI Gene 8091","url":"https://www.ncbi.nlm.nih.gov/gene/8091"},{"label":"Ensembl ENSG00000149948","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000149948"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","oral-cavity-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HMGA2","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5009","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5009","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P52926","url":"https://www.uniprot.org/uniprotkb/P52926/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000149948","url":"https://platform.opentargets.org/target/ENSG00000149948/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: breast cancer 0.56, oral cavity cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5009","ensembl":"ENSG00000149948","uniprot":"P52926","entrez":"8091","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Patel U.A. et al, Biochem. Biophys. Res. Commun, 1994, \"Expression and cDNA cloning of human HMGI-C phosphoprotein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8198613/","biology":"Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Plays a role in postnatal myogenesis, is involved in satellite cell activation. Positively regulates IGF2 expression through PLAG1 and in a PLAG1-independent manner. Location: Nucleus (UniProt). Locus 12q14.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Oral cavity cancer: Open Targets association 0.52 with oral cavity cancer (MONDO_0005515)"],"targetClass":"transcription","prevalence":[]},{"id":"hmgcr","kind":"target","name":"HMGCR","aka":["3-hydroxy-3-methylglutaryl-CoA reductase","3-hydroxy-3-methylglutaryl-coenzyme A reductase"],"tldr":"HMGCR (3-hydroxy-3-methylglutaryl-coenzyme A reductase) is an enzyme. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Catalyses the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis. HMGCR is the main target of statins, a class of cholesterol-lowering drugs.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.98, animal model 0.39, genetic association 0.39, clinical 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5006","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5006"},{"label":"UniProt P04035","url":"https://www.uniprot.org/uniprotkb/P04035/entry"},{"label":"NCBI Gene 3156","url":"https://www.ncbi.nlm.nih.gov/gene/3156"},{"label":"Ensembl ENSG00000113161","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113161"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.68. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HMGCR","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5006","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5006","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P04035","url":"https://www.uniprot.org/uniprotkb/P04035/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000113161","url":"https://platform.opentargets.org/target/ENSG00000113161/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA lists HMGCR among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA HMGCR: RNA tissue enhanced (liver 99 nTPM); high antibody staining in 11 normal tissues; highest cancer staining colorectal cancer (8 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HMGCR tissue","url":"https://www.proteinatlas.org/ENSG00000113161-HMGCR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113161 associations","url":"https://platform.opentargets.org/target/ENSG00000113161/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5006","ensembl":"ENSG00000113161","uniprot":"P04035","entrez":"3156","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Luskey K.L. et al, J. Biol. Chem, 1985, \"Human 3-hydroxy-3-methylglutaryl coenzyme A reductase. Conserved domains responsible for catalytic activity and sterol-regulated degradation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2991281/","biology":"Catalyses the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis. HMGCR is the main target of statins, a class of cholesterol-lowering drugs. Location: Endoplasmic reticulum membrane; Peroxisome membrane (UniProt). Locus 5q13.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"hmox1","kind":"target","name":"HMOX1","aka":["heme oxygenase 1","Heme oxygenase 1","bK286B10","HO-1"],"tldr":"HMOX1 (Heme oxygenase 1) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma.","summary":"Catalyses the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron. Affords protection against programmed cell death and this cytoprotective effect relies on its ability to catabolise free heme and prevent it from sensitising cells to undergo apoptosis. Catalyses the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Sorafenib and Sunitinib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5013","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5013"},{"label":"UniProt P09601","url":"https://www.uniprot.org/uniprotkb/P09601/entry"},{"label":"NCBI Gene 3162","url":"https://www.ncbi.nlm.nih.gov/gene/3162"},{"label":"Ensembl ENSG00000100292","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100292"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HMOX1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5013","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5013","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09601","url":"https://www.uniprot.org/uniprotkb/P09601/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HMOX1","url":"https://civicdb.org/features/2657","note":"1 evidence items, 0 assertions, 2 variants; diseases: Renal Cell Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HMOX1: RNA tissue enriched (lymphoid tissue 740 nTPM); blood lineage lineage enriched (monocytes 331 nTPM); high antibody staining in 6 normal tissues; highest cancer staining urothelial cancer (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HMOX1 tissue","url":"https://www.proteinatlas.org/ENSG00000100292-HMOX1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100292 associations","url":"https://platform.opentargets.org/target/ENSG00000100292/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5013","ensembl":"ENSG00000100292","uniprot":"P09601","entrez":"3162","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yoshida et al, Eur. J. Biochem, 1988, \"Human heme oxygenase cDNA and induction of its mRNA by hemin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3345742/","biology":"Catalyses the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron. Affords protection against programmed cell death and this cytoprotective effect relies on its ability to catabolise free heme and prevent it from sensitising cells to undergo apoptosis. Catalyses the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron. Location: Endoplasmic reticulum membrane (UniProt). Locus 22q12.3 (HGNC).","whereFound":["Renal cell carcinoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"hnf1a","kind":"target","name":"HNF1A","aka":["HNF1 homeobox A","Hepatocyte nuclear factor 1-alpha","HNF1","LFB1","HNF1α","MODY3","TCF1"],"tldr":"HNF1A (Hepatocyte nuclear factor 1-alpha) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Renal cell carcinoma, Hepatocellular carcinoma, Skin cancer and 5 more.","summary":"Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11.\n\nOpen Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.38, literature 0.98, genetic association 0.86, somatic mutation 0.94, animal model 0.55). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Hepatocellular Carcinoma, Papillary Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11621","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11621"},{"label":"UniProt P20823","url":"https://www.uniprot.org/uniprotkb/P20823/entry"},{"label":"NCBI Gene 6927","url":"https://www.ncbi.nlm.nih.gov/gene/6927"},{"label":"Ensembl ENSG00000135100","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135100"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["rcc","hcc","skin-cancer","ovarian","colorectal","lung-cancer","papillary-rcc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HNF1A","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11621","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11621","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20823","url":"https://www.uniprot.org/uniprotkb/P20823/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135100","url":"https://platform.opentargets.org/target/ENSG00000135100/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.55, hepatocellular carcinoma 0.53, renal cell carcinoma 0.66, ovarian cancer 0.56, melanoma 0.56, skin cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen HNF1A","url":"https://www.intogen.org/search?gene=HNF1A","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11621","ensembl":"ENSG00000135100","uniprot":"P20823","entrez":"6927","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bach et al, Genomics, 1990, \"Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1707031/","biology":"Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the activity of one of the critical cis-elements in the hepatitis B virus genome enhancer II (ENII). Location: Nucleus (UniProt). Locus 12q24.31 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.66 with renal cell carcinoma (MONDO_0005086); IntOGen driver in 1 cohort (PRCC)","Hepatocellular carcinoma: Open Targets association 0.53 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 3 cohorts (HCC)","Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)","Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)"],"targetClass":"transcription","prevalence":[]},{"id":"hnf1b","kind":"target","name":"HNF1B","aka":["HNF1 homeobox B","Hepatocyte nuclear factor 1-beta","LFB3","VHNF1","HNF1beta","MODY5","HNF1β","TCF2"],"tldr":"HNF1B (Hepatocyte nuclear factor 1-beta) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Renal cell carcinoma and Ovarian cancer.","summary":"Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Binds to the FPC element in the cAMP regulatory unit of the PLAU gene. Transcriptional activity is increased by coactivator PCBD1.\n\nOpen Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes genetic literature 0.92, affected pathway 0.35, literature 0.98, genetic association 0.88, animal model 0.25).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11630","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11630"},{"label":"UniProt P35680","url":"https://www.uniprot.org/uniprotkb/P35680/entry"},{"label":"NCBI Gene 6928","url":"https://www.ncbi.nlm.nih.gov/gene/6928"},{"label":"Ensembl ENSG00000275410","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000275410"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["rcc","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HNF1B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11630","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11630","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35680","url":"https://www.uniprot.org/uniprotkb/P35680/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000275410","url":"https://platform.opentargets.org/target/ENSG00000275410/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: renal cell carcinoma 0.71, ovarian cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11630","ensembl":"ENSG00000275410","uniprot":"P35680","entrez":"6928","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bach et al, Nucleic Acids Res, 1991, \"Two members of an HNF1 homeoprotein family are expressed in human liver\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1677179/","biology":"Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Binds to the FPC element in the cAMP regulatory unit of the PLAU gene. Transcriptional activity is increased by coactivator PCBD1. Location: Nucleus (UniProt). Locus 17q12 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.71 with renal cell carcinoma (MONDO_0005086)","Ovarian cancer: Open Targets association 0.54 with ovarian cancer (MONDO_0008170)"],"targetClass":"transcription","prevalence":[]},{"id":"hnf4g","kind":"target","name":"HNF4G","aka":["hepatocyte nuclear factor 4 gamma","Hepatocyte nuclear factor 4-gamma","NR2A2"],"tldr":"HNF4G (Hepatocyte nuclear factor 4-gamma) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transcription factor. Has a lower transcription activation potential than HNF4-alpha.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.63).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5026","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5026"},{"label":"UniProt Q14541","url":"https://www.uniprot.org/uniprotkb/Q14541/entry"},{"label":"NCBI Gene 3174","url":"https://www.ncbi.nlm.nih.gov/gene/3174"},{"label":"Ensembl ENSG00000164749","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164749"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HNF4G","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5026","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5026","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14541","url":"https://www.uniprot.org/uniprotkb/Q14541/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164749","url":"https://platform.opentargets.org/target/ENSG00000164749/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5026","ensembl":"ENSG00000164749","uniprot":"Q14541","entrez":"3174","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Drewes et al, Mol. Cell. Biol, 1996, \"Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8622695/","biology":"Transcription factor. Has a lower transcription activation potential than HNF4-alpha. Location: Nucleus (UniProt). Locus 8q21.13 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"hnrnpa2b1","kind":"target","name":"HNRNPA2B1","aka":["heterogeneous nuclear ribonucleoprotein A2/B1","Heterogeneous nuclear ribonucleoproteins A2/B1","HNRNPA2","HNRNPB1","HNRPA2B1"],"tldr":"HNRNPA2B1 (Heterogeneous nuclear ribonucleoproteins A2/B1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Leukaemia and Non-Hodgkin lymphoma.","summary":"Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilise the transcripts and minimise tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.25, genetic association 0.04, somatic mutation 0.81). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5033","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5033"},{"label":"UniProt P22626","url":"https://www.uniprot.org/uniprotkb/P22626/entry"},{"label":"NCBI Gene 3181","url":"https://www.ncbi.nlm.nih.gov/gene/3181"},{"label":"Ensembl ENSG00000122566","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122566"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","leukaemia","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HNRNPA2B1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:5033","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5033","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P22626","url":"https://www.uniprot.org/uniprotkb/P22626/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000122566","url":"https://platform.opentargets.org/target/ENSG00000122566/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.51, leukaemia 0.54 (GraphQL API, CC0)"},{"label":"IntOGen HNRNPA2B1","url":"https://www.intogen.org/search?gene=HNRNPA2B1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:5033","ensembl":"ENSG00000122566","uniprot":"P22626","entrez":"3181","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kumar et al, J. Biol. Chem, 1986, \"Purification and domain structure of core hnRNP proteins A1 and A2 and their relationship to single-stranded DNA-binding proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3733753/","biology":"Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilise the transcripts and minimise tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs. Forms hnRNP particles with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus. Involved in transport of specific mRNAs to the cytoplasm in oligodendrocytes and neurons: acts by specifically recognising and binding the A2RE (21 nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11 nucleotide oligonucleotide) sequence motifs present on some mRNAs, and promotes their transport to the cytoplasm. Specifically binds single-stranded telomeric DNA sequences, protecting telomeric DNA repeat against endonuclease digestion. Location: Nucleus; Nucleus, nucleoplasm; Cytoplasm; Cytoplasmic granule (UniProt). Locus 7p15.2 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)"],"targetClass":"oncogene","prevalence":[]},{"id":"hnrnph1","kind":"target","name":"HNRNPH1","aka":["heterogeneous nuclear ribonucleoprotein H1","Heterogeneous nuclear ribonucleoprotein H","hnRNPH","HNRPH1"],"tldr":"HNRNPH1 (Heterogeneous nuclear ribonucleoprotein H) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Mantle cell lymphoma.","summary":"This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5041","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5041"},{"label":"UniProt P31943","url":"https://www.uniprot.org/uniprotkb/P31943/entry"},{"label":"NCBI Gene 3187","url":"https://www.ncbi.nlm.nih.gov/gene/3187"},{"label":"Ensembl ENSG00000169045","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169045"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HNRNPH1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5041","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5041","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31943","url":"https://www.uniprot.org/uniprotkb/P31943/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HNRNPH1","url":"https://civicdb.org/features/2677","note":"2 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists HNRNPH1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA HNRNPH1: RNA low tissue specificity; high antibody staining in 33 normal tissues; highest cancer staining carcinoid (4 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HNRNPH1 tissue","url":"https://www.proteinatlas.org/ENSG00000169045-HNRNPH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169045 associations","url":"https://platform.opentargets.org/target/ENSG00000169045/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5041","ensembl":"ENSG00000169045","uniprot":"P31943","entrez":"3187","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rasmussen H.H. et al, Electrophoresis, 1992, \"Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1286667/","biology":"This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Mediates pre-mRNA alternative splicing regulation. Inhibits, together with CUGBP1, insulin receptor (IR) pre-mRNA exon 11 inclusion in myoblast. Binds to the IR RNA. Binds poly(RG). Location: Nucleus, nucleoplasm (UniProt). Locus 5q35.3 (HGNC).","whereFound":["Mantle cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"hnrnpu","kind":"target","name":"HNRNPU","aka":["heterogeneous nuclear ribonucleoprotein U","Heterogeneous nuclear ribonucleoprotein U","SAF-A","FLJ37978","FLJ30202","HNRPU","HNRNPU-AS1","C1orf199","NCRNA00201"],"tldr":"HNRNPU (Heterogeneous nuclear ribonucleoprotein U) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Burkitt lymphoma.","summary":"DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organisation, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression. Plays a role in the regulation of interphase large-scale gene-rich chromatin organisation through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability. Required for the localisation of the long non-coding Xist RNA on the inactive chromosome X (Xi) and the subsequent initiation and maintenance of X-linked transcriptional gene silencing during X-inactivation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5048","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5048"},{"label":"UniProt Q00839","url":"https://www.uniprot.org/uniprotkb/Q00839/entry"},{"label":"NCBI Gene 3192","url":"https://www.ncbi.nlm.nih.gov/gene/3192"},{"label":"Ensembl ENSG00000153187","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153187"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HNRNPU","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5048","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5048","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q00839","url":"https://www.uniprot.org/uniprotkb/Q00839/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HNRNPU","url":"https://civicdb.org/features/2682","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists HNRNPU among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA HNRNPU: RNA low tissue specificity; high antibody staining in 41 normal tissues; highest cancer staining cervical cancer (11 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HNRNPU tissue","url":"https://www.proteinatlas.org/ENSG00000153187-HNRNPU/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000153187 associations","url":"https://platform.opentargets.org/target/ENSG00000153187/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5048","ensembl":"ENSG00000153187","uniprot":"Q00839","entrez":"3192","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kiledjian et al, EMBO J, 1992, \"Primary structure and binding activity of the hnRNP U protein: binding RNA through RGG box\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1628625/","biology":"DNA- and RNA-binding protein involved in several cellular processes such as nuclear chromatin organisation, telomere-length regulation, transcription, mRNA alternative splicing and stability, Xist-mediated transcriptional silencing and mitotic cell progression. Plays a role in the regulation of interphase large-scale gene-rich chromatin organisation through chromatin-associated RNAs (caRNAs) in a transcription-dependent manner, and thereby maintains genomic stability. Required for the localisation of the long non-coding Xist RNA on the inactive chromosome X (Xi) and the subsequent initiation and maintenance of X-linked transcriptional gene silencing during X-inactivation. Plays a role as a RNA polymerase II (Pol II) holoenzyme transcription regulator. Promotes transcription initiation by direct association with the core-TFIIH basal transcription factor complex for the assembly of a functional pre-initiation complex with Pol II in a actin-dependent manner. Blocks Pol II transcription elongation activity by inhibiting the C-terminal domain (CTD) phosphorylation of Pol II and dissociates from Pol II pre-initiation complex prior to productive transcription elongation. Location: Nucleus; Nucleus matrix; Chromosome; Nucleus speckle (UniProt). Locus 1q44 (HGNC).","whereFound":["Burkitt lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"hook3","kind":"target","name":"HOOK3","aka":["hook microtubule tethering protein 3","Protein Hook homolog 3","HK3"],"tldr":"HOOK3 (Protein Hook homolog 3) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Predominantly recruits 2 dyneins, which increases both the force and speed of the microtubule motor.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.89, genetic association 0.00, somatic mutation 0.85).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23576","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23576"},{"label":"UniProt Q86VS8","url":"https://www.uniprot.org/uniprotkb/Q86VS8/entry"},{"label":"NCBI Gene 84376","url":"https://www.ncbi.nlm.nih.gov/gene/84376"},{"label":"Ensembl ENSG00000168172","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168172"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOOK3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23576","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23576","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86VS8","url":"https://www.uniprot.org/uniprotkb/Q86VS8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000168172","url":"https://platform.opentargets.org/target/ENSG00000168172/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:23576","ensembl":"ENSG00000168172","uniprot":"Q86VS8","entrez":"84376","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Walenta J.H. et al, J. Cell Biol, 2001, \"The Golgi-associated hook3 protein is a member of a novel family of microtubule-binding proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11238449/","biology":"Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Predominantly recruits 2 dyneins, which increases both the force and speed of the microtubule motor. Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). May regulate clearance of endocytosed receptors such as MSR1. Location: Cytoplasm, cytoskeleton; Golgi apparatus (UniProt). Locus 8p11.21 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"hoxa11","kind":"target","name":"HOXA11","aka":["homeobox A11","Homeobox protein Hox-A11","HOX1I","HOX1"],"tldr":"HOXA11 (Homeobox protein Hox-A11) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.99, animal model 0.43, genetic association 0.10, somatic mutation 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5101","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5101"},{"label":"UniProt P31270","url":"https://www.uniprot.org/uniprotkb/P31270/entry"},{"label":"NCBI Gene 3207","url":"https://www.ncbi.nlm.nih.gov/gene/3207"},{"label":"Ensembl ENSG00000005073","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000005073"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOXA11","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5101","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5101","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31270","url":"https://www.uniprot.org/uniprotkb/P31270/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000005073","url":"https://platform.opentargets.org/target/ENSG00000005073/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5101","ensembl":"ENSG00000005073","uniprot":"P31270","entrez":"3207","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Acampora et al, Nucleic Acids Res, 1989, \"The human HOX gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2574852/","biology":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Location: Nucleus (UniProt). Locus 7p15.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"hoxa13","kind":"target","name":"HOXA13","aka":["homeobox A13","Homeobox protein Hox-A13","HOX1J","HOX1"],"tldr":"HOXA13 (Homeobox protein Hox-A13) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.97, animal model 0.58, genetic association 0.25, somatic mutation 0.93). In OnCo, 1 product record names it (Cxbladder).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5102","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5102"},{"label":"UniProt P31271","url":"https://www.uniprot.org/uniprotkb/P31271/entry"},{"label":"NCBI Gene 3209","url":"https://www.ncbi.nlm.nih.gov/gene/3209"},{"label":"Ensembl ENSG00000106031","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106031"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["cxbladder"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOXA13","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5102","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5102","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31271","url":"https://www.uniprot.org/uniprotkb/P31271/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000106031","url":"https://platform.opentargets.org/target/ENSG00000106031/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"not-established","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Prostate Adenocarcinoma (TCGA)) and tissue enhanced in normal cervix, placenta, prostate, seminal vesicle, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA HOXA13: RNA tissue enhanced (cervix 21 nTPM, placenta 16 nTPM, prostate 21 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HOXA13 tissue","url":"https://www.proteinatlas.org/ENSG00000106031-HOXA13/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HOXA13 pathology","url":"https://www.proteinatlas.org/ENSG00000106031-HOXA13/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106031 associations","url":"https://platform.opentargets.org/target/ENSG00000106031/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5102","ensembl":"ENSG00000106031","uniprot":"P31271","entrez":"3209","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Acampora et al, Nucleic Acids Res, 1989, \"The human HOX gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2574852/","biology":"Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Location: Nucleus (UniProt). Locus 7p15.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"hoxa9","kind":"target","name":"HOXA9","aka":["HOX1G","HOX1","homeobox A9"],"tldr":"HOXA9 is an embryonic growth gene that some leukaemias keep switched on so their cells never mature. Menin inhibitors such as revumenib and ziftomenib do not touch HOXA9 itself; they pull menin off the DNA so the gene switches off and the cells grow up.","summary":"HOXA9 (chromosome 7p15.2) is a sequence-specific homeobox transcription factor of the anterior-posterior patterning system that also induces E-selectin and VCAM1 on inflamed endothelium and increases EIF4E-mediated mRNA export and the translation of ODC mRNA (UniProt P31269). The menin-KMT2A pathway record explains its place in leukaemia: KMT2A fusions (infant ALL, about 10% of adult AML) and mutant NPM1 (about 30% of adult AML) are tethered to chromatin through menin and keep HOXA9 and MEIS1 transcribed, holding the cell in a stem-like state. In OnCo, revumenib and ziftomenib occupy the KMT2A-binding pocket of menin, evict the complex, HOXA9 and MEIS1 transcription falls within days and blasts differentiate into mature myeloid cells, with differentiation syndrome as the class toxicity.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:5109","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5109"},{"label":"UniProt P31269","url":"https://www.uniprot.org/uniprotkb/P31269/entry"},{"label":"NCBI Gene 3205","url":"https://www.ncbi.nlm.nih.gov/gene/3205"}],"tags":["wave5-target"],"related":["revumenib","ziftomenib","menin","kmt2a","npm1","meis1"],"cancers":["aml","all-leukemia","aml-npm1-kmt2a","all-infant"],"sections":[],"technologies":["menin-inhibitors"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["menin-kmt2a","epigenetic-reprogramming","aml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"HOXA9","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:5109","ensembl":"ENSG00000078399","uniprot":"P31269","entrez":"3205","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Acampora et al, Nucleic Acids Res, 1989, \"The human HOX gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2574852/","biology":"HOXA9 is not directly druggable in the corpus; the menin inhibitors act on the scaffold that keeps it expressed, and MEIS1 is its cofactor in the same programme (UniProt O00470).","whereFound":["KMT2A-rearranged acute leukaemia (infant ALL; adult and therapy-related AML)","NPM1-mutant AML"],"targetClass":"transcription","prevalence":[]},{"id":"hoxb13","kind":"target","name":"HOXB13","aka":["homeobox B13","Homeobox protein Hox-B13"],"tldr":"HOXB13 (Homeobox protein Hox-B13) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer and Gastric & gastro-oesophageal junction cancer.","summary":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds preferentially to methylated DNA.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.99, genetic association 0.86, somatic mutation 0.30, animal model 0.38). In OnCo, 1 product record names it (Breast Cancer Index).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5112","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5112"},{"label":"UniProt Q92826","url":"https://www.uniprot.org/uniprotkb/Q92826/entry"},{"label":"NCBI Gene 10481","url":"https://www.ncbi.nlm.nih.gov/gene/10481"},{"label":"Ensembl ENSG00000159184","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159184"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["prostate","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":["breast-cancer-index"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOXB13","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5112","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5112","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92826","url":"https://www.uniprot.org/uniprotkb/Q92826/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HOXB13","url":"https://civicdb.org/features/8351","note":"2 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000159184","url":"https://platform.opentargets.org/target/ENSG00000159184/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: gastric cancer 0.52, prostate cancer 0.74 (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enriched in cancer (Prostate Adenocarcinoma (TCGA)) and group enriched in normal intestine, prostate, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA HOXB13: RNA group enriched (intestine 39 nTPM, prostate 77 nTPM); high antibody staining in 3 normal tissues; highest cancer staining prostate cancer (6 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (Familial prostate cancer, gastric cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HOXB13 tissue","url":"https://www.proteinatlas.org/ENSG00000159184-HOXB13/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas HOXB13 pathology","url":"https://www.proteinatlas.org/ENSG00000159184-HOXB13/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000159184 associations","url":"https://platform.opentargets.org/target/ENSG00000159184/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5112","ensembl":"ENSG00000159184","uniprot":"Q92826","entrez":"10481","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zeltser L.M. et al, Development, 1996, \"Hoxb-13: a new Hox gene in a distant region of the HOXB cluster maintains colinearity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8756292/","biology":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds preferentially to methylated DNA. Location: Nucleus (UniProt). Locus 17q21.32 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.74 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)"],"targetClass":"transcription","prevalence":[]},{"id":"hoxc10","kind":"target","name":"HOXC10","aka":["homeobox C10","Homeobox protein Hox-C10","HOX3I"],"tldr":"HOXC10 (Homeobox protein Hox-C10) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Bevacizumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5122","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5122"},{"label":"UniProt Q9NYD6","url":"https://www.uniprot.org/uniprotkb/Q9NYD6/entry"},{"label":"NCBI Gene 3226","url":"https://www.ncbi.nlm.nih.gov/gene/3226"},{"label":"Ensembl ENSG00000180818","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000180818"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Glioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOXC10","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5122","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5122","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NYD6","url":"https://www.uniprot.org/uniprotkb/Q9NYD6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HOXC10","url":"https://civicdb.org/features/2715","note":"2 evidence items, 0 assertions, 1 variants; diseases: Glioma (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HOXC10: RNA tissue enhanced (blood vessel 23 nTPM, kidney 28 nTPM, skeletal muscle 106 nTPM); no normal tissue stained high; highest cancer staining carcinoid (2 of 4 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HOXC10 tissue","url":"https://www.proteinatlas.org/ENSG00000180818-HOXC10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000180818 associations","url":"https://platform.opentargets.org/target/ENSG00000180818/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5122","ensembl":"ENSG00000180818","uniprot":"Q9NYD6","entrez":"3226","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Flagiello et al, FEBS Lett, 1997, \"Distinct patterns of all-trans retinoic acid dependent expression of HOXB and HOXC homeogenes in human embryonal and small-cell lung carcinoma cell lines\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9357979/","biology":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Location: Nucleus (UniProt). Locus 12q13.13 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"hoxc11","kind":"target","name":"HOXC11","aka":["homeobox C11","Homeobox protein Hox-C11","HOX3H"],"tldr":"HOXC11 (Homeobox protein Hox-C11) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to a promoter element of the lactase-phlorizin hydrolase gene.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.83, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5123","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5123"},{"label":"UniProt O43248","url":"https://www.uniprot.org/uniprotkb/O43248/entry"},{"label":"NCBI Gene 3227","url":"https://www.ncbi.nlm.nih.gov/gene/3227"},{"label":"Ensembl ENSG00000123388","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123388"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOXC11","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5123","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5123","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43248","url":"https://www.uniprot.org/uniprotkb/O43248/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000123388","url":"https://platform.opentargets.org/target/ENSG00000123388/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: colorectal cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5123","ensembl":"ENSG00000123388","uniprot":"O43248","entrez":"3227","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mitchelmore C.E. et al, J. Biol. Chem, 1998, \"The HOXC11 homeodomain protein interacts with the lactase-phlorizin hydrolase promoter and stimulates HNF1alpha-dependent transcription\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9582375/","biology":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to a promoter element of the lactase-phlorizin hydrolase gene. Location: Nucleus (UniProt). Locus 12q13.13 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"hoxc13","kind":"target","name":"HOXC13","aka":["homeobox C13","Homeobox protein Hox-C13","HOX3","HOX3G"],"tldr":"HOXC13 (Homeobox protein Hox-C13) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer.","summary":"Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.93, animal model 0.67, somatic mutation 0.77). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5125","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5125"},{"label":"UniProt P31276","url":"https://www.uniprot.org/uniprotkb/P31276/entry"},{"label":"NCBI Gene 3229","url":"https://www.ncbi.nlm.nih.gov/gene/3229"},{"label":"Ensembl ENSG00000123364","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123364"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOXC13","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:5125","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5125","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31276","url":"https://www.uniprot.org/uniprotkb/P31276/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000123364","url":"https://platform.opentargets.org/target/ENSG00000123364/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"},{"label":"IntOGen HOXC13","url":"https://www.intogen.org/search?gene=HOXC13","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:5125","ensembl":"ENSG00000123364","uniprot":"P31276","entrez":"3229","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Acampora et al, Nucleic Acids Res, 1989, \"The human HOX gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2574852/","biology":"Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes. Location: Nucleus (UniProt). Locus 12q13.13 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"hoxd11","kind":"target","name":"HOXD11","aka":["homeobox D11","Homeobox protein Hox-D11","HOX4","HOX4F"],"tldr":"HOXD11 (Homeobox protein Hox-D11) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.71, animal model 0.32, genetic association 0.37, somatic mutation 0.94).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5134","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5134"},{"label":"UniProt P31277","url":"https://www.uniprot.org/uniprotkb/P31277/entry"},{"label":"NCBI Gene 3237","url":"https://www.ncbi.nlm.nih.gov/gene/3237"},{"label":"Ensembl ENSG00000128713","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128713"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOXD11","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5134","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5134","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31277","url":"https://www.uniprot.org/uniprotkb/P31277/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000128713","url":"https://platform.opentargets.org/target/ENSG00000128713/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: colorectal cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5134","ensembl":"ENSG00000128713","uniprot":"P31277","entrez":"3237","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Acampora et al, Nucleic Acids Res, 1989, \"The human HOX gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2574852/","biology":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Location: Nucleus (UniProt). Locus 2q31.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"hoxd13","kind":"target","name":"HOXD13","aka":["homeobox D13","Homeobox protein Hox-D13","HOX4I"],"tldr":"HOXD13 (Homeobox protein Hox-D13) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Sequence-specific transcription factor that binds gene promoters and activates their transcription. Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.97, animal model 0.82, genetic association 0.00, somatic mutation 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5136","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5136"},{"label":"UniProt P35453","url":"https://www.uniprot.org/uniprotkb/P35453/entry"},{"label":"NCBI Gene 3239","url":"https://www.ncbi.nlm.nih.gov/gene/3239"},{"label":"Ensembl ENSG00000128714","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128714"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOXD13","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5136","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5136","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35453","url":"https://www.uniprot.org/uniprotkb/P35453/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000128714","url":"https://platform.opentargets.org/target/ENSG00000128714/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5136","ensembl":"ENSG00000128714","uniprot":"P35453","entrez":"3239","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: D'Esposito et al, Genomics, 1991, \"EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1675198/","biology":"Sequence-specific transcription factor that binds gene promoters and activates their transcription. Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Location: Nucleus (UniProt). Locus 2q31.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"hoxd8","kind":"target","name":"HOXD8","aka":["homeobox D8","Homeobox protein Hox-D8","HOX4","HOX4E"],"tldr":"HOXD8 (Homeobox protein Hox-D8) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Vemurafenib and Dabrafenib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5139","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5139"},{"label":"UniProt P13378","url":"https://www.uniprot.org/uniprotkb/P13378/entry"},{"label":"NCBI Gene 3234","url":"https://www.ncbi.nlm.nih.gov/gene/3234"},{"label":"Ensembl ENSG00000175879","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175879"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HOXD8","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5139","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5139","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P13378","url":"https://www.uniprot.org/uniprotkb/P13378/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HOXD8","url":"https://civicdb.org/features/2723","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HOXD8: RNA tissue enhanced (epididymis 94 nTPM, kidney 71 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HOXD8 tissue","url":"https://www.proteinatlas.org/ENSG00000175879-HOXD8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000175879 associations","url":"https://platform.opentargets.org/target/ENSG00000175879/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5139","ensembl":"ENSG00000175879","uniprot":"P13378","entrez":"3234","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Oliver et al, Genes Dev, 1989, \"Complementary homeo protein gradients in developing limb buds\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2568311/","biology":"Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Location: Nucleus (UniProt). Locus 2q31.1 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"hras","kind":"target","name":"HRAS","aka":["HRas proto-oncogene, GTPase","GTPase HRas","HRAS1"],"tldr":"HRAS (GTPase HRas) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Thyroid cancer, Sarcomas and 5 more.","summary":"Signal transducer in the Ras-MAPK signalling pathway that regulates cell proliferation and survival. Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Recognised by LZTR1 that mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex.\n\nCIViC holds 24 clinical evidence items and 2 assertions across 12 variants, naming Vemurafenib, Selumetinib, Cetuximab and Erlotinib and others. Open Targets scores its association with cancer at 0.90 (direct and indirect evidence; datatypes genetic literature 0.79, clinical 0.16, affected pathway 0.90, literature 0.98, genetic association 0.86, somatic mutation 0.97, animal model 0.43). IntOGen calls it a driver in 23 cohorts (23 activating, 0 loss-of-function), covering Angiosarcoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Colorectal Adenocarcinoma, Cutaneous Squamous Cell Carcinoma, Head and Neck Squamous Cell Carcinoma and others. In OnCo, 1 product record names it (JYP0015).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5173","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5173"},{"label":"UniProt P01112","url":"https://www.uniprot.org/uniprotkb/P01112/entry"},{"label":"NCBI Gene 3265","url":"https://www.ncbi.nlm.nih.gov/gene/3265"},{"label":"Ensembl ENSG00000174775","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000174775"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","thyroid","sarcoma","head-and-neck","neuroendocrine","prostate","colorectal","breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":["jyp0015"],"companies":[],"institutions":[],"pathways":["bladder-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.16; IntOGen calls it an activating (Act) driver in 23 cohorts; CIViC holds 24 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Skin Squamous Cell Carcinoma; Follicular Thyroid Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HRAS","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5173","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5173","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01112","url":"https://www.uniprot.org/uniprotkb/P01112/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HRAS","url":"https://civicdb.org/features/2747","note":"24 evidence items, 2 assertions, 12 variants; diseases: Skin Squamous Cell Carcinoma, Cancer, Colorectal Cancer, Head And Neck Squamous Cell Carcinoma, Head And Neck Cancer and 4 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000174775","url":"https://platform.opentargets.org/target/ENSG00000174775/associations","note":"association with cancer (MONDO_0004992) 0.90; per-cancer scores at or above 0.5: urinary bladder cancer 0.79, head and neck squamous cell carcinoma 0.66, sarcoma 0.67, thyroid cancer 0.77, neuroendocrine neoplasm 0.64, skin cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen HRAS","url":"https://www.intogen.org/search?gene=HRAS","note":"driver in 23 cohorts (Act 23, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (JYP0015), an alteration absent from normal cells. HPA HRAS: RNA tissue enhanced (brain 124 nTPM); high antibody staining in 7 normal tissues; highest cancer staining ovarian cancer (2 of 9 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Thyroid cancer, Sarcomas (soft tissue, bone, GIST), Head and neck squamous cell carcinoma, Neuroendocrine tumours, Prostate cancer, Colorectal cancer and more); Open Targets associates it with 9 specific cancer types at or above 0.5 (linear nevus sebaceous syndrome, urinary bladder cancer, nevus, epidermal, urinary bladder carcinoma, thyroid cancer, nonmedullary, 2, large congenital melanocytic nevus and more). (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"ClinicalTrials.gov: trials of JYP0015","url":"https://clinicaltrials.gov/search?intr=JYP0015"},{"label":"Human Protein Atlas HRAS tissue","url":"https://www.proteinatlas.org/ENSG00000174775-HRAS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000174775 associations","url":"https://platform.opentargets.org/target/ENSG00000174775/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5173","ensembl":"ENSG00000174775","uniprot":"P01112","entrez":"3265","firstDescribed":1982,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tabin C.J. et al, Nature, 1982, \"Mechanism of activation of a human oncogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6290897/","biology":"Signal transducer in the Ras-MAPK signalling pathway that regulates cell proliferation and survival. Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Recognised by LZTR1 that mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. Location: Cell membrane; Golgi apparatus; Golgi apparatus membrane; Nucleus (UniProt). Locus 11p15.5 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.79 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease","Thyroid cancer: Open Targets association 0.77 with thyroid cancer (MONDO_0002108); CIViC evidence names this disease","Sarcomas: Open Targets association 0.67 with sarcoma (MONDO_0005089)","Head and neck squamous cell carcinoma: Open Targets association 0.66 with head and neck squamous cell carcinoma (MONDO_0010150); CIViC evidence names this disease","Neuroendocrine tumours: Open Targets association 0.64 with neuroendocrine neoplasm (MONDO_0019496)","Prostate cancer: IntOGen driver in 4 cohorts (PRAD, PROSTATE)"],"targetClass":"oncogene","prevalence":[]},{"id":"hsp90aa1","kind":"target","name":"HSP90AA1","aka":["heat shock protein 90 alpha family class A member 1","Heat shock protein HSP 90-alpha","Hsp89","Hsp90","FLJ31884","HSP90N","HSPC1","HSPCA","HSPCAL4"],"tldr":"HSP90AA1 (Heat shock protein HSP 90-alpha) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target and a tumour suppressor, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes clinical 0.63, affected pathway 0.99, literature 1.00, genetic association 0.00, somatic mutation 0.43, animal model 0.52). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5253","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5253"},{"label":"UniProt P07900","url":"https://www.uniprot.org/uniprotkb/P07900/entry"},{"label":"NCBI Gene 3320","url":"https://www.ncbi.nlm.nih.gov/gene/3320"},{"label":"Ensembl ENSG00000080824","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000080824"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ubiquitin-proteasome-system"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.63; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HSP90AA1","role":["drug-target","tumour-suppressor"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5253","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5253","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P07900","url":"https://www.uniprot.org/uniprotkb/P07900/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000080824","url":"https://platform.opentargets.org/target/ENSG00000080824/associations","note":"association with cancer (MONDO_0004992) 0.75;  (GraphQL API, CC0)"},{"label":"IntOGen HSP90AA1","url":"https://www.intogen.org/search?gene=HSP90AA1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA HSP90AA1: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining testis cancer (5 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P07900","url":"https://www.uniprot.org/uniprotkb/P07900/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen HSP90AA1","url":"https://www.intogen.org/search?gene=HSP90AA1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas HSP90AA1 tissue","url":"https://www.proteinatlas.org/ENSG00000080824-HSP90AA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000080824 associations","url":"https://platform.opentargets.org/target/ENSG00000080824/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5253","ensembl":"ENSG00000080824","uniprot":"P07900","entrez":"3320","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hoffmann et al, Gene, 1988, \"Heat-shock proteins, Hsp84 and Hsp86, of mice and men: two related genes encode formerly identified tumour-specific transplantation antigens\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2469626/","biology":"Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle that is linked to its ATPase activity which is essential for its chaperone activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself. Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. Location: Nucleus; Cytoplasm; Melanosome; Cell membrane (UniProt). Locus 14q32.31 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"hsp90ab1","kind":"target","name":"HSP90AB1","aka":["heat shock protein 90 alpha family class B member 1","Heat shock protein HSP 90-beta","HSPC2","HSPCB"],"tldr":"HSP90AB1 (Heat shock protein HSP 90-beta) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Melanoma.","summary":"Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5258","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5258"},{"label":"UniProt P08238","url":"https://www.uniprot.org/uniprotkb/P08238/entry"},{"label":"NCBI Gene 3326","url":"https://www.ncbi.nlm.nih.gov/gene/3326"},{"label":"Ensembl ENSG00000096384","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000096384"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HSP90AB1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:5258","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5258","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08238","url":"https://www.uniprot.org/uniprotkb/P08238/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen HSP90AB1","url":"https://www.intogen.org/search?gene=HSP90AB1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:5258","ensembl":"ENSG00000096384","uniprot":"P08238","entrez":"3326","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rebbe N.F. et al, Gene, 1987, \"Nucleotide sequence of a cDNA for a member of the human 90-kDa heat-shock protein family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3301534/","biology":"Molecular chaperone that promotes the maturation, structural maintenance and proper regulation of specific target proteins involved for instance in cell cycle control and signal transduction. Undergoes a functional cycle linked to its ATPase activity. This cycle probably induces conformational changes in the client proteins, thereby causing their activation. Interacts dynamically with various co-chaperones that modulate its substrate recognition, ATPase cycle and chaperone function. Engages with a range of client protein classes via its interaction with various co-chaperone proteins or complexes, that act as adapters, simultaneously able to interact with the specific client and the central chaperone itself. Recruitment of ATP and co-chaperone followed by client protein forms a functional chaperone. Location: Cytoplasm; Melanosome; Nucleus; Secreted (UniProt). Locus 6p21.1 (HGNC).","whereFound":["Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"hsp90b1","kind":"target","name":"HSP90B1","aka":["heat shock protein 90 beta family member 1","Endoplasmin","GP96","GRP94","TRA1"],"tldr":"HSP90B1 (Endoplasmin) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"ATP-dependent chaperone involved in the processing of proteins in the endoplasmic reticulum, regulating their transport. Together with MESD, acts as a modulator of the Wnt pathway by promoting the folding of LRP6, a coreceptor of the canonical Wnt pathway. When associated with CNPY3, required for proper folding of Toll-like receptors.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Temozolomide and Onalespib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12028","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12028"},{"label":"UniProt P14625","url":"https://www.uniprot.org/uniprotkb/P14625/entry"},{"label":"NCBI Gene 7184","url":"https://www.ncbi.nlm.nih.gov/gene/7184"},{"label":"Ensembl ENSG00000166598","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166598"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Glioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HSP90B1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12028","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12028","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14625","url":"https://www.uniprot.org/uniprotkb/P14625/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HSP90B1","url":"https://civicdb.org/features/5876","note":"1 evidence items, 0 assertions, 1 variants; diseases: Glioma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA lists HSP90B1 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA HSP90B1: RNA tissue enhanced (thyroid gland 1,323 nTPM); high antibody staining in 32 normal tissues; highest cancer staining liver cancer (12 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HSP90B1 tissue","url":"https://www.proteinatlas.org/ENSG00000166598-HSP90B1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000166598 associations","url":"https://platform.opentargets.org/target/ENSG00000166598/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12028","ensembl":"ENSG00000166598","uniprot":"P14625","entrez":"7184","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chang S.C. et al, Mol. Cell. Biol, 1989, \"Glucose-regulated protein (GRP94 and GRP78) genes share common regulatory domains and are coordinately regulated by common trans-acting factors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2546060/","biology":"ATP-dependent chaperone involved in the processing of proteins in the endoplasmic reticulum, regulating their transport. Together with MESD, acts as a modulator of the Wnt pathway by promoting the folding of LRP6, a coreceptor of the canonical Wnt pathway. When associated with CNPY3, required for proper folding of Toll-like receptors. Promotes folding and trafficking of TLR4 to the cell surface. May participate in the unfolding of cytosolic leaderless cargos (lacking the secretion signal sequence) such as the interleukin 1/IL-1 to facilitate their translocation into the ERGIC (endoplasmic reticulum-Golgi intermediate compartment) and secretion; the translocation process is mediated by the cargo receptor TMED10. Location: Endoplasmic reticulum lumen; Sarcoplasmic reticulum lumen; Melanosome (UniProt). Locus 12q23.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"hspa5","kind":"target","name":"HSPA5","aka":["heat shock protein family A (Hsp70) member 5","Endoplasmic reticulum chaperone BiP","BiP","GRP78"],"tldr":"HSPA5 (Endoplasmic reticulum chaperone BiP) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Endoplasmic reticulum chaperone that plays a key role in protein folding and quality control in the endoplasmic reticulum lumen. Involved in the correct folding of proteins and degradation of misfolded proteins via its interaction with DNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5 from its substrate. Acts as a key repressor of the EIF2AK3/PERK and ERN1/IRE1-mediated unfolded protein response (UPR).\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Fluorouracil.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5238","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5238"},{"label":"UniProt P11021","url":"https://www.uniprot.org/uniprotkb/P11021/entry"},{"label":"NCBI Gene 3309","url":"https://www.ncbi.nlm.nih.gov/gene/3309"},{"label":"Ensembl ENSG00000044574","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000044574"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HSPA5","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5238","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5238","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11021","url":"https://www.uniprot.org/uniprotkb/P11021/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HSPA5","url":"https://civicdb.org/features/2778","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists HSPA5 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA HSPA5: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining pancreatic cancer (11 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HSPA5 tissue","url":"https://www.proteinatlas.org/ENSG00000044574-HSPA5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000044574 associations","url":"https://platform.opentargets.org/target/ENSG00000044574/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5238","ensembl":"ENSG00000044574","uniprot":"P11021","entrez":"3309","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ting et al, DNA, 1988, \"Human gene encoding the 78,000-dalton glucose-regulated protein and its pseudogene: structure, conservation, and regulation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2840249/","biology":"Endoplasmic reticulum chaperone that plays a key role in protein folding and quality control in the endoplasmic reticulum lumen. Involved in the correct folding of proteins and degradation of misfolded proteins via its interaction with DNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5 from its substrate. Acts as a key repressor of the EIF2AK3/PERK and ERN1/IRE1-mediated unfolded protein response (UPR). In the unstressed endoplasmic reticulum, recruited by DNAJB9/ERdj4 to the luminal region of ERN1/IRE1, leading to disrupt the dimerisation of ERN1/IRE1, thereby inactivating ERN1/IRE1. Also binds and inactivates EIF2AK3/PERK in unstressed cells. Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP from ERN1/IRE1 and EIF2AK3/PERK, allowing their homodimerisation and subsequent activation. Location: Endoplasmic reticulum lumen; Melanosome; Cytoplasm; Cell surface (UniProt). Locus 9q33.3 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"hspb1","kind":"target","name":"HSPB1","aka":["heat shock protein family B (small) member 1","Heat shock protein beta-1","HSP27","HSP28","Hs.76067","Hsp25","CMT2F"],"tldr":"HSPB1 (Heat shock protein beta-1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma.","summary":"Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Plays a role in stress resistance and actin organisation. Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Gemcitabine.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5246","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5246"},{"label":"UniProt P04792","url":"https://www.uniprot.org/uniprotkb/P04792/entry"},{"label":"NCBI Gene 3315","url":"https://www.ncbi.nlm.nih.gov/gene/3315"},{"label":"Ensembl ENSG00000106211","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106211"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HSPB1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5246","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5246","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P04792","url":"https://www.uniprot.org/uniprotkb/P04792/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HSPB1","url":"https://civicdb.org/features/2784","note":"1 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Ductal Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HSPB1: RNA tissue enhanced (esophagus 6,919 nTPM); high antibody staining in 17 normal tissues; highest cancer staining skin cancer (4 of 9 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HSPB1 tissue","url":"https://www.proteinatlas.org/ENSG00000106211-HSPB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106211 associations","url":"https://platform.opentargets.org/target/ENSG00000106211/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5246","ensembl":"ENSG00000106211","uniprot":"P04792","entrez":"3315","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hickey et al, Nucleic Acids Res, 1986, \"Sequence and organization of genes encoding the human 27 kDa heat shock protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3714473/","biology":"Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Plays a role in stress resistance and actin organisation. Through its molecular chaperone activity may regulate numerous biological processes including the phosphorylation and the axonal transport of neurofilament proteins. Location: Cytoplasm; Nucleus; Cytoplasm, cytoskeleton, spindle (UniProt). Locus 7q11.23 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"hspg2","kind":"target","name":"HSPG2","aka":["heparan sulfate proteoglycan 2","Basement membrane-specific heparan sulfate proteoglycan core protein","perlecan","PRCAN","SJS1"],"tldr":"HSPG2 (Basement membrane-specific heparan sulfate proteoglycan core protein) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer.","summary":"Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5273","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5273"},{"label":"UniProt P98160","url":"https://www.uniprot.org/uniprotkb/P98160/entry"},{"label":"NCBI Gene 3339","url":"https://www.ncbi.nlm.nih.gov/gene/3339"},{"label":"Ensembl ENSG00000142798","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142798"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HSPG2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:5273","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5273","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P98160","url":"https://www.uniprot.org/uniprotkb/P98160/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen HSPG2","url":"https://www.intogen.org/search?gene=HSPG2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:5273","ensembl":"ENSG00000142798","uniprot":"P98160","entrez":"3339","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Heremans et al, J. Cell Biol, 1989, \"Matrix-associated heparan sulfate proteoglycan: core protein-specific monoclonal antibodies decorate the pericellular matrix of connective tissue cells and the stromal side of basement membranes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2687294/","biology":"Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularisation. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development. Location: Secreted, extracellular space, extracellular matrix, basement membrane; Secreted (UniProt). Locus 1p36.12 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"oncogene","prevalence":[]},{"id":"hsph1","kind":"target","name":"HSPH1","aka":["heat shock protein family H (Hsp110) member 1","Heat shock protein 105 kDa","HSP105B","KIAA0201","HSP105A","NY-CO-25"],"tldr":"HSPH1 (Heat shock protein 105 kDa) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer and Colorectal cancer.","summary":"Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release. Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Fluorouracil, Oxaliplatin and Cisplatin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16969","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16969"},{"label":"UniProt Q92598","url":"https://www.uniprot.org/uniprotkb/Q92598/entry"},{"label":"NCBI Gene 10808","url":"https://www.ncbi.nlm.nih.gov/gene/10808"},{"label":"Ensembl ENSG00000120694","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000120694"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["gastric","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HSPH1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16969","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16969","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92598","url":"https://www.uniprot.org/uniprotkb/Q92598/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HSPH1","url":"https://civicdb.org/features/8614","note":"3 evidence items, 0 assertions, 2 variants; diseases: Gastric Adenocarcinoma, Colorectal Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA HSPH1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining urothelial cancer (12 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HSPH1 tissue","url":"https://www.proteinatlas.org/ENSG00000120694-HSPH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000120694 associations","url":"https://platform.opentargets.org/target/ENSG00000120694/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16969","ensembl":"ENSG00000120694","uniprot":"Q92598","entrez":"10808","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1996, \"Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9039502/","biology":"Acts as a nucleotide-exchange factor (NEF) for chaperone proteins HSPA1A and HSPA1B, promoting the release of ADP from HSPA1A/B thereby triggering client/substrate protein release. Prevents the aggregation of denatured proteins in cells under severe stress, on which the ATP levels decrease markedly. Inhibits HSPA8/HSC70 ATPase and chaperone activities. Location: Cytoplasm (UniProt). Locus 13q12.3 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease","Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"hvcn1","kind":"target","name":"HVCN1","aka":["hydrogen voltage gated channel 1","Voltage-gated hydrogen channel 1","MGC15619","Hv1"],"tldr":"HVCN1 (Voltage-gated hydrogen channel 1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Voltage-gated proton-selective channel that conducts outward proton currents in response to intracellular acidification. Lacks a canonical ion-channel pore domain and mediates proton permeability via its voltage sensor domain. Appears to play a dominant role in regulation of CO2/HCO3(-)/H(+) equilibrium in sperm flagellum.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28240","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28240"},{"label":"UniProt Q96D96","url":"https://www.uniprot.org/uniprotkb/Q96D96/entry"},{"label":"NCBI Gene 84329","url":"https://www.ncbi.nlm.nih.gov/gene/84329"},{"label":"Ensembl ENSG00000122986","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122986"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"HVCN1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:28240","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28240","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96D96","url":"https://www.uniprot.org/uniprotkb/Q96D96/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene HVCN1","url":"https://civicdb.org/features/16160","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA HVCN1: RNA tissue enriched (choroid plexus 505 nTPM); high antibody staining in 2 normal tissues; highest cancer staining lymphoma (1 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas HVCN1 tissue","url":"https://www.proteinatlas.org/ENSG00000122986-HVCN1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000122986 associations","url":"https://platform.opentargets.org/target/ENSG00000122986/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:28240","ensembl":"ENSG00000122986","uniprot":"Q96D96","entrez":"84329","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Clark H.F. et al, Genome Res, 2003, \"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12975309/","biology":"Voltage-gated proton-selective channel that conducts outward proton currents in response to intracellular acidification. Lacks a canonical ion-channel pore domain and mediates proton permeability via its voltage sensor domain. Appears to play a dominant role in regulation of CO2/HCO3(-)/H(+) equilibrium in sperm flagellum. Prevents the acidification resulting from HCO3(-) synthesis and thus sustains high HCO3(-) levels inside sperm for capacitation. Provides for proton efflux that compensates for electron charge generated by NADPH oxidase activity either in the extracellular or phagosomal compartments, thus enabling the production of high levels of bactericidal reactive oxygen species during the respiratory burst. Opens when the pH of airway surface liquid exceeds 7 and contributes to respiratory epithelial acid secretion to maintain pH in the mucosa. Location: Cell membrane; Apical cell membrane; Cytoplasmic vesicle, phagosome membrane; Cell projection, cilium, flagellum membrane (UniProt). Locus 12q24.11 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"icos","kind":"target","name":"ICOS","aka":["inducible T cell costimulator","Inducible T-cell costimulator","AILIM","CD278"],"tldr":"ICOS (Inducible T-cell costimulator) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Stimulatory receptor expressed in activated or antigen-experienced T-cells that plays an important role in the immune response. Upon binding to its ligand ICOSL expressed on antigen presenting cells (APCs), delivers costimulatory signals that enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines including IL10, up-regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells. Also acts as a costimulatory receptor critical for the differentiation of T follicular regulatory cells upon immune challenges such as viral infection.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes clinical 0.30, affected pathway 0.61, literature 0.97, genetic association 0.64, animal model 0.32).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5351","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5351"},{"label":"UniProt Q9Y6W8","url":"https://www.uniprot.org/uniprotkb/Q9Y6W8/entry"},{"label":"NCBI Gene 29851","url":"https://www.ncbi.nlm.nih.gov/gene/29851"},{"label":"Ensembl ENSG00000163600","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163600"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.30. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ICOS","role":["drug-target","immune-checkpoint"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5351","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5351","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6W8","url":"https://www.uniprot.org/uniprotkb/Q9Y6W8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163600","url":"https://platform.opentargets.org/target/ENSG00000163600/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificity":"immune-microenvironment","distribution":"not-established","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA ICOS: RNA group enriched (bone marrow 16 nTPM, lymphoid tissue 19 nTPM); blood lineage lineage enriched (T-cells 29 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ICOS tissue","url":"https://www.proteinatlas.org/ENSG00000163600-ICOS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q9Y6W8","url":"https://www.uniprot.org/uniprotkb/Q9Y6W8/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000163600 associations","url":"https://platform.opentargets.org/target/ENSG00000163600/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5351","ensembl":"ENSG00000163600","uniprot":"Q9Y6W8","entrez":"29851","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hutloff et al, Nature, 1999, \"ICOS is an inducible T-cell co-stimulator structurally and functionally related to CD28\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9930702/","biology":"Stimulatory receptor expressed in activated or antigen-experienced T-cells that plays an important role in the immune response. Upon binding to its ligand ICOSL expressed on antigen presenting cells (APCs), delivers costimulatory signals that enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines including IL10, up-regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells. Also acts as a costimulatory receptor critical for the differentiation of T follicular regulatory cells upon immune challenges such as viral infection. Mechanistically, potentiates TCR-induced calcium flux by augmenting PLCG1 activation and actin remodeling. In addition, activates PI3K signalling pathways independently of calcium flux. Essential both for efficient interaction between T and B-cells and for normal antibody responses to T-cell dependent antigens. Location: Cell membrane; Secreted (UniProt). Locus 2q33.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"id3","kind":"target","name":"ID3","aka":["inhibitor of DNA binding 3","DNA-binding protein inhibitor ID-3","HEIR-1","bHLHb25"],"tldr":"ID3 (DNA-binding protein inhibitor ID-3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Burkitt lymphoma and Diffuse large B-cell lymphoma.","summary":"Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Involved in myogenesis by inhibiting skeletal muscle and cardiac myocyte differentiation and promoting muscle precursor cells proliferation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 5 cohorts (0 activating, 5 loss-of-function), covering Burkitt Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5362","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5362"},{"label":"UniProt Q02535","url":"https://www.uniprot.org/uniprotkb/Q02535/entry"},{"label":"NCBI Gene 3399","url":"https://www.ncbi.nlm.nih.gov/gene/3399"},{"label":"Ensembl ENSG00000117318","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000117318"},{"label":"Schmitz et al., Nature 2012: Burkitt lymphoma pathogenesis from structural and functional genomics","url":"https://doi.org/10.1038/nature11378"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","burkitt-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","pi3k-akt-mtor","cell-cycle-engine-cdks"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, TCF3, ID3 and CCND3 in Burkitt lymphoma: A MYC translocation alone does not make a Burkitt lymphoma; it needs a partner that supplies survival. In Burkitt the partner is tonic B-cell receptor signalling through TCF3, the transcription factor also known as E2A: mutations either activate TCF3 or inactivate its negative regulator ID3, and TCF3 then switches on the PI3K pathway partly by augmenting tonic receptor signalling. A second, independent lesion drives the cell cycle directly, through CCND3 mutations that produce unusually stable cyclin D3. Frequency: TCF3 or ID3 mutation in 70% of sporadic Burkitt lymphoma cases and oncogenic CCND3 mutations in 38%, in a study combining high-throughput RNA sequencing with RNA interference screening (Schmitz 2012). What it changes about treatment: Not yet, and the gap is uncomfortable, because the regimens that cure Burkitt lymphoma are the most toxic in lymphoma and are the reason the disease is hard to treat in older patients and in low-resource settings, which is exactly where the endemic form occurs."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ID3","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5362","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5362","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02535","url":"https://www.uniprot.org/uniprotkb/Q02535/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ID3","url":"https://civicdb.org/features/2840","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000117318","url":"https://platform.opentargets.org/target/ENSG00000117318/associations","note":"per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.61, Burkitt lymphoma 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ID3","url":"https://www.intogen.org/search?gene=ID3","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ID3: RNA tissue enhanced (blood vessel 461 nTPM); blood lineage group enriched (B-cells 320 nTPM, T-cells 178 nTPM); high antibody staining in 30 normal tissues; highest cancer staining skin cancer (7 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (Burkitt lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q02535","url":"https://www.uniprot.org/uniprotkb/Q02535/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ID3","url":"https://civicdb.org/features/2840","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen ID3","url":"https://www.intogen.org/search?gene=ID3","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ID3 tissue","url":"https://www.proteinatlas.org/ENSG00000117318-ID3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000117318 associations","url":"https://platform.opentargets.org/target/ENSG00000117318/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5362","ensembl":"ENSG00000117318","uniprot":"Q02535","entrez":"3399","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ellmeier et al, EMBO J, 1992, \"Mutually exclusive expression of a helix-loop-helix gene and N-myc in human neuroblastomas and in normal development\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1628620/","biology":"Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Involved in myogenesis by inhibiting skeletal muscle and cardiac myocyte differentiation and promoting muscle precursor cells proliferation. Inhibits the binding of E2A-containing protein complexes to muscle creatine kinase E-box enhancer. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Location: Nucleus (UniProt). Locus 1p36.12 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Burkitt lymphoma: Open Targets association 0.51 with Burkitt lymphoma (MONDO_0007243); CIViC evidence names this disease","Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"idh","kind":"target","name":"IDH1 / IDH2","aka":[],"tldr":"A metabolic enzyme whose mutant form produces a molecule that scrambles how genes are read; blocking it slows brain tumours and leukaemias.","summary":"IDH1 and IDH2 are metabolic enzymes whose mutant forms produce the oncometabolite 2-hydroxyglutarate, which inhibits TET and histone demethylases and scrambles how genes are read; inhibitors of the mutant enzyme lower 2-HG and let cells differentiate. Ivosidenib (IDH1) and enasidenib (IDH2) are approved in AML, ivosidenib in cholangiocarcinoma, and vorasidenib (Voranigo, dual IDH1/2) in grade 2 IDH-mutant glioma after INDIGO (2024), the first targeted therapy for low-grade glioma. IDH mutations occur in roughly 70 to 80 percent of grade 2 to 3 gliomas but under 10 percent of primary glioblastoma, in 15 to 20 percent of AML and 10 to 20 percent of intrahepatic cholangiocarcinoma, and in chondrosarcoma. Differentiation syndrome in AML and the durability of glioma control are open questions. Blocking a mutant metabolic enzyme slows brain tumours and leukaemias.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Isocitrate_dehydrogenase","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Isocitrate_dehydrogenase"}],"tags":["driver","epigenetic"],"related":["idh1-r132","idh2-mutation"],"cancers":["glioblastoma","aml","cholangiocarcinoma","gallbladder","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["oncomine-dx-target-test","tqb3454","hmpl-306","safusidenib"],"companies":[],"institutions":[],"pathways":["glioma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-javle-biliary-ngs-cancer-2016","paper-tcga-molecular-taxonomy-primary-prostate-cell-2015"],"journals":[],"dependsOn":[],"notes":["Gallbladder cancer: IDH1 mutation is rare (1 of 244 samples in cBioPortal gbc_mskcc_2022) against 16% of intrahepatic cholangiocarcinomas (Javle 2016); ivosidenib eligibility is effectively an intrahepatic question."],"symbol":"IDH1, IDH2","role":[],"sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 2 of 2 label readouts filed under it measure a sequence variant (IDH1 R132 mutation, IDH2 mutation (R140 and R172)) absent from normal cells. HPA IDH1: RNA tissue enhanced (liver 501 nTPM); high antibody staining in 10 normal tissues; highest cancer staining prostate cancer (6 of 11 high). HPA IDH2: RNA group enriched (heart muscle 462 nTPM, skeletal muscle 1,220 nTPM, tongue 1,504 nTPM); high antibody staining in 24 normal tissues; highest cancer staining colorectal cancer (7 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types), Leukaemia, Biliary tract cancer (all types)); approvals of single-target medicines aimed at it also list Nasal cavity and paranasal sinus cancers (including esthesioneuroblastoma), not counted; Open Targets associates it with 8 specific cancer types at or above 0.5 (acute myeloid leukemia, Ollier disease, glioblastoma, cholangiocarcinoma, glioma, Maffucci syndrome and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"IDH1 R132 mutation label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=65d254c0-67ad-42c4-b972-ad463b755b2d","note":"Susceptible IDH1 mutation"},{"label":"IDH2 mutation (R140 and R172) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=a5b4cdf0-3fa8-4c6c-80f6-8d8a00e3a5b6","note":"IDH2 mutation"},{"label":"Human Protein Atlas IDH1 tissue","url":"https://www.proteinatlas.org/ENSG00000138413-IDH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas IDH2 tissue","url":"https://www.proteinatlas.org/ENSG00000182054-IDH2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138413 associations","url":"https://platform.opentargets.org/target/ENSG00000138413/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000182054 associations","url":"https://platform.opentargets.org/target/ENSG00000182054/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Neomorphic enzyme activity; 2-HG inhibits TET and histone demethylases.","whereFound":["Low-grade glioma (~80%)","AML (~20%)","Cholangiocarcinoma (~15%)","Chondrosarcoma","Gallbladder cancer: mutation 0.4%","Prostate cancer: hotspot mutation defining a methylator subtype 0.5-1% depending on disease state"],"targetClass":"enzyme","prevalence":[{"cancerId":"glioblastoma","pct":"70-80","measure":"IDH1/2 mutation in grade 2-3 glioma","source":"https://www.cbioportal.org/study/summary?id=lgg_tcga_pan_can_atlas_2018","note":"<10% in primary glioblastoma"},{"cancerId":"aml","pct":"15-20","measure":"IDH1 or IDH2 mutation","source":"https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018"},{"cancerId":"cholangiocarcinoma","pct":"10-20","measure":"IDH1 mutation (intrahepatic)","source":"https://www.cbioportal.org/study/summary?id=chol_tcga_pan_can_atlas_2018"},{"cancerId":"gallbladder","pct":"0.4","measure":"Mutation","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"IDH1 mutation in 1 of 244 samples, 0.4%, and no IDH2 mutation in cBioPortal gbc_mskcc_2022; 2 of 103 and 1 of 103 in gbc_msk_2018."},{"cancerId":"prostate","pct":"0.5-1","measure":"Hotspot mutation defining a methylator subtype","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"cBioPortal: 5 of 494, 1.0%, in prad_tcga_pan_can_atlas_2018 (2 R132C, 1 R132G, 1 R132H); 9 of 1,013, 0.9%, in prad_p1000; 14 of 2,260, 0.6%, in prostate_msk_2024; 3 of 477, 0.6%, in prad_cpcg_2017. The TCGA taxonomy put it at 1% of 333 primary tumours and showed the IDH1-mutant subset carried a methylator phenotype (Cancer Genome Atlas Research Network 2015)."}]},{"id":"ido1","kind":"target","name":"IDO1","aka":["IDO","INDO","indoleamine 2,3-dioxygenase 1"],"tldr":"IDO1 is an enzyme tumours use to burn up tryptophan, starving T cells and producing by-products that switch them off. Epacadostat blocked it but its programme ended in failure; the IO102-IO103 vaccine instead teaches T cells to attack the IDO1-expressing cells themselves.","summary":"IDO1 (chromosome 8p11.21) catalyses the first, rate-limiting step of tryptophan catabolism along the kynurenine pathway; the tryptophan shortage stops T lymphocytes dividing and the catabolites induce T-cell apoptosis and regulatory T-cell differentiation, so the enzyme maintains peripheral tolerance, protects the fetus from maternal rejection, limits intracellular pathogens and suppresses anti-tumour immunity (UniProt P14902). In OnCo, IDO1 is the target of epacadostat, a selective reversible enzyme inhibitor recorded as a negative programme in melanoma, and one of the two antigens (with PD-L1) of the IO102-IO103 peptide vaccine in phase 3 for melanoma and head and neck cancer.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:6059","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6059"},{"label":"UniProt P14902","url":"https://www.uniprot.org/uniprotkb/P14902/entry"},{"label":"NCBI Gene 3620","url":"https://www.ncbi.nlm.nih.gov/gene/3620"}],"tags":["wave5-target"],"related":["pdl1"],"cancers":["melanoma","head-and-neck"],"sections":[],"technologies":["checkpoint-inhibitor"],"targets":[],"drugs":["epacadostat","io102-io103"],"companies":[],"institutions":[],"pathways":["nutrient-competition-tme","immune-desert-exclusion","cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"IDO1","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA IDO1: RNA tissue enhanced (lymphoid tissue 55 nTPM, placenta 104 nTPM); blood lineage lineage enriched (granulocytes 466 nTPM); high antibody staining in 4 normal tissues; highest cancer staining cervical cancer (3 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Head and neck squamous cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IDO1 tissue","url":"https://www.proteinatlas.org/ENSG00000131203-IDO1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P14902","url":"https://www.uniprot.org/uniprotkb/P14902/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000131203 associations","url":"https://platform.opentargets.org/target/ENSG00000131203/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6059","ensembl":"ENSG00000131203","uniprot":"P14902","entrez":"3620","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dai et al, Biochem. Biophys. Res. Commun, 1990, \"Molecular cloning, sequencing and expression of human interferon-gamma-inducible indoleamine 2,3-dioxygenase cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2109605/","biology":"The two corpus approaches differ in kind: epacadostat blocked the enzyme's chemistry, while IO102-IO103 raises T cells against cells that express IDO1 or PD-L1 in the tumour microenvironment, turning the suppressive cells themselves into targets.","whereFound":["Tumour cells and myeloid cells of the tumour microenvironment","Melanoma and head and neck cancer (IO102-IO103); melanoma (epacadostat)"],"targetClass":"enzyme","prevalence":[]},{"id":"ifna2","kind":"target","name":"IFNA2","aka":["interferon alpha 2","Interferon alpha-2","IFN-alphaA"],"tldr":"IFNA2 (Interferon alpha-2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Produced by macrophages, IFN-alpha have antiviral activities.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.96, clinical 0.81).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5423","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5423"},{"label":"UniProt P01563","url":"https://www.uniprot.org/uniprotkb/P01563/entry"},{"label":"NCBI Gene 3440","url":"https://www.ncbi.nlm.nih.gov/gene/3440"},{"label":"Ensembl ENSG00000188379","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000188379"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.81. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IFNA2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:5423","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5423","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01563","url":"https://www.uniprot.org/uniprotkb/P01563/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000188379","url":"https://platform.opentargets.org/target/ENSG00000188379/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA not detected, which says where the protein sits but not whether the tumour differs from normal tissue. HPA IFNA2: RNA not detected; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas IFNA2 tissue","url":"https://www.proteinatlas.org/ENSG00000188379-IFNA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000188379 associations","url":"https://platform.opentargets.org/target/ENSG00000188379/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5423","ensembl":"ENSG00000188379","uniprot":"P01563","entrez":"3440","firstDescribed":1980,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Goeddel D.V. et al, Nature, 1980, \"Human leukocyte interferon produced by E. coli is biologically active\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6159538/","biology":"Produced by macrophages, IFN-alpha have antiviral activities. Location: Secreted (UniProt). Locus 9p21.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ifnar2","kind":"target","name":"IFNAR2","aka":["interferon alpha and beta receptor subunit 2","Interferon alpha/beta receptor 2","IFNABR"],"tldr":"IFNAR2 (Interferon alpha/beta receptor 2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms, Leukaemia, Non-Hodgkin lymphoma and 5 more.","summary":"Together with IFNAR1, forms the heterodimeric receptor for type I interferons (including interferons alpha, beta, epsilon, omega and kappa). Type I interferon binding activates the JAK-STAT signalling cascade, resulting in transcriptional activation or repression of interferon-regulated genes that encode the effectors of the interferon response. Mechanistically, type I interferon-binding brings the IFNAR1 and IFNAR2 subunits into close proximity with one another, driving their associated Janus kinases (JAKs) (TYK2 bound to IFNAR1 and JAK1 bound to IFNAR2) to cross-phosphorylate one another.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.61, genetic association 0.00, clinical 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5433","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5433"},{"label":"UniProt P48551","url":"https://www.uniprot.org/uniprotkb/P48551/entry"},{"label":"NCBI Gene 3455","url":"https://www.ncbi.nlm.nih.gov/gene/3455"},{"label":"Ensembl ENSG00000159110","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159110"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["myeloproliferative-neoplasms","leukaemia","non-hodgkin-lymphoma","multiple-myeloma","melanoma","polycythaemia-vera","all-leukemia","cml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.98. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IFNAR2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:5433","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5433","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48551","url":"https://www.uniprot.org/uniprotkb/P48551/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000159110","url":"https://platform.opentargets.org/target/ENSG00000159110/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: melanoma 0.59, acute lymphoblastic leukaemia 0.53, B-cell chronic lymphocytic leukaemia 0.51, plasma cell myeloma 0.50, non-Hodgkin lymphoma 0.57, chronic myelogenous leukaemia, BCR-ABL1 positive 0.53 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA IFNAR2: RNA low tissue specificity; no normal tissue stained high. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lymphoma, Multiple myeloma, Skin cancer (all types)); Open Targets associates it with 7 specific cancer types at or above 0.5 (melanoma, acquired polycythemia vera, chronic myeloid leukemia, essential thrombocythemia, hairy cell leukemia, plasma cell myeloma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IFNAR2 tissue","url":"https://www.proteinatlas.org/ENSG00000159110-IFNAR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000159110 associations","url":"https://platform.opentargets.org/target/ENSG00000159110/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5433","ensembl":"ENSG00000159110","uniprot":"P48551","entrez":"3455","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Novick et al, Cell, 1994, \"The human interferon alpha/beta receptor: characterization and molecular cloning\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8181059/","biology":"Together with IFNAR1, forms the heterodimeric receptor for type I interferons (including interferons alpha, beta, epsilon, omega and kappa). Type I interferon binding activates the JAK-STAT signalling cascade, resulting in transcriptional activation or repression of interferon-regulated genes that encode the effectors of the interferon response. Mechanistically, type I interferon-binding brings the IFNAR1 and IFNAR2 subunits into close proximity with one another, driving their associated Janus kinases (JAKs) (TYK2 bound to IFNAR1 and JAK1 bound to IFNAR2) to cross-phosphorylate one another. The activated kinases phosphorylate specific tyrosine residues on the intracellular domains of IFNAR1 and IFNAR2, forming docking sites for the STAT transcription factors (STAT1, STAT2 and STAT). STAT proteins are then phosphorylated by the JAKs, promoting their translocation into the nucleus to regulate expression of interferon-regulated genes. Potent inhibitor of type I IFN receptor activity. Location: Cell membrane; Secreted (UniProt). Locus 21q22.11 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.60 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.58 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.50 with plasma cell myeloma (MONDO_0009693)","Melanoma: Open Targets association 0.59 with melanoma (MONDO_0005105)","Polycythaemia vera: Open Targets association 0.58 with acquired polycythemia vera (MONDO_0009891)"],"targetClass":"other","prevalence":[]},{"id":"ifngr1","kind":"target","name":"IFNGR1","aka":["interferon gamma receptor 1","Interferon gamma receptor 1","CD119","IFNGR"],"tldr":"IFNGR1 (Interferon gamma receptor 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation. Associates with transmembrane accessory factor IFNGR2 to form a functional receptor. Upon ligand binding, the intracellular domain of IFNGR1 opens out to allow association of downstream signalling components JAK1 and JAK2.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Ipilimumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5439","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5439"},{"label":"UniProt P15260","url":"https://www.uniprot.org/uniprotkb/P15260/entry"},{"label":"NCBI Gene 3459","url":"https://www.ncbi.nlm.nih.gov/gene/3459"},{"label":"Ensembl ENSG00000027697","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000027697"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IFNGR1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5439","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5439","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15260","url":"https://www.uniprot.org/uniprotkb/P15260/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene IFNGR1","url":"https://civicdb.org/features/2888","note":"1 evidence items, 0 assertions, 2 variants; diseases: Melanoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA IFNGR1: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IFNGR1 tissue","url":"https://www.proteinatlas.org/ENSG00000027697-IFNGR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000027697 associations","url":"https://platform.opentargets.org/target/ENSG00000027697/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5439","ensembl":"ENSG00000027697","uniprot":"P15260","entrez":"3459","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aguet et al, Cell, 1988, \"Molecular cloning and expression of the human interferon-gamma receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2971451/","biology":"Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation. Associates with transmembrane accessory factor IFNGR2 to form a functional receptor. Upon ligand binding, the intracellular domain of IFNGR1 opens out to allow association of downstream signalling components JAK1 and JAK2. In turn, activated JAK1 phosphorylates IFNGR1 to form a docking site for STAT1. Subsequent phosphorylation of STAT1 leads to dimerisation, translocation to the nucleus, and stimulation of target gene transcription. STAT3 can also be activated in a similar manner although activation seems weaker. Location: Cell membrane (UniProt). Locus 6q23.3 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"igf1r","kind":"target","name":"IGF-1 receptor (IGF1R)","aka":[],"tldr":"The IGF-1 receptor is a growth-factor receptor that many cancers use to survive; a decade of antibodies and kinase inhibitors against it failed in trials, a cautionary tale in oncology drug development.","summary":"Insulin-like growth factor 1 receptor is a receptor tyrosine kinase closely related to the insulin receptor that promotes growth and survival through PI3K-AKT and MAPK signalling. Antibodies (ganitumab, figitumumab, dalotuzumab) and small molecules (linsitinib) were tested in lung, breast, pancreatic and Ewing sarcoma without meeting their endpoints, partly because of insulin receptor compensation and hyperglycaemia. The only approved IGF1R antibody, teprotumumab, treats thyroid eye disease rather than cancer.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Insulin-like_growth_factor_1_receptor","links":[{"label":"UniProt P08069: IGF1R","url":"https://www.uniprot.org/uniprotkb/P08069/entry"},{"label":"HGNC:5465 IGF1R","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5465"},{"label":"ChEMBL target CHEMBL1957","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL1957"}],"tags":[],"related":[],"cancers":["ewing-sarcoma","nsclc","breast-hr-positive"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"IGF1R","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:5465","ensembl":"ENSG00000140443","uniprot":"P08069","entrez":"3480","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ullrich et al, EMBO J, 1986, \"Insulin-like growth factor I receptor primary structure: comparison with insulin receptor suggests structural determinants that define functional specificity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2877871/","biology":"A heterotetrameric receptor kinase activated by IGF-1 and IGF-2; hybrid receptors with the insulin receptor complicate selective blockade.","whereFound":["Ewing sarcoma, breast, lung and pancreatic cancers (expressed)","Most normal tissues at lower levels"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (IGF-1 receptor, widely expressed; a decade of trials found no selecting marker); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"igf2","kind":"target","name":"IGF2","aka":["insulin like growth factor 2","Insulin-like growth factor 2","FLJ44734","IGF-II","C11orf43"],"tldr":"IGF2 (Insulin-like growth factor 2) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer, Ovarian cancer and Pancreatic ductal adenocarcinoma.","summary":"The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 1 variant, naming Linsitinib, Cabazitaxel, Ganitumab and Docetaxel and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5466","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5466"},{"label":"UniProt P01344","url":"https://www.uniprot.org/uniprotkb/P01344/entry"},{"label":"NCBI Gene 3481","url":"https://www.ncbi.nlm.nih.gov/gene/3481"},{"label":"Ensembl ENSG00000167244","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167244"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate","ovarian","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 5 therapies; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IGF2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5466","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5466","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01344","url":"https://www.uniprot.org/uniprotkb/P01344/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene IGF2","url":"https://civicdb.org/features/60","note":"5 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer, Ovarian Cancer, Pancreatic Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA IGF2: RNA tissue enriched (placenta 2,598 nTPM); high antibody staining in 1 normal tissue; highest cancer staining urothelial cancer (2 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Ovarian cancer, Pancreatic ductal adenocarcinoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (Beckwith-Wiedemann syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas IGF2 tissue","url":"https://www.proteinatlas.org/ENSG00000167244-IGF2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167244 associations","url":"https://platform.opentargets.org/target/ENSG00000167244/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5466","ensembl":"ENSG00000167244","uniprot":"P01344","entrez":"3481","firstDescribed":1978,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rinderknecht et al, FEBS Lett, 1978, \"Primary structure of human insulin-like growth factor II\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/658418/","biology":"The insulin-like growth factors possess growth-promoting activity. Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF2 is influenced by placental lactogen. Also involved in tissue differentiation. In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver. Location: Secreted (UniProt). Locus 11p15.5 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"igf2r","kind":"target","name":"IGF2R","aka":["insulin like growth factor 2 receptor","Cation-independent mannose-6-phosphate receptor","CD222","MPR1","CIMPR","M6P-R","CI-M6PR","CI-MPR","MPR300"],"tldr":"IGF2R (Cation-independent mannose-6-phosphate receptor) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex. The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.91, animal model 0.40, genetic association 0.42, somatic mutation 0.72).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5467","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5467"},{"label":"UniProt P11717","url":"https://www.uniprot.org/uniprotkb/P11717/entry"},{"label":"NCBI Gene 3482","url":"https://www.ncbi.nlm.nih.gov/gene/3482"},{"label":"Ensembl ENSG00000197081","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197081"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IGF2R","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5467","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5467","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11717","url":"https://www.uniprot.org/uniprotkb/P11717/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000197081","url":"https://platform.opentargets.org/target/ENSG00000197081/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5467","ensembl":"ENSG00000197081","uniprot":"P11717","entrez":"3482","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Morgan D.O. et al, Nature, 1987, \"Insulin-like growth factor II receptor as a multifunctional binding protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2957598/","biology":"Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelysosomal compartment where the low pH mediates the dissociation of the complex. The receptor is then recycled back to the Golgi for another round of trafficking through its binding to the retromer. This receptor also binds IGF2. Acts as a positive regulator of T-cell coactivation by binding DPP4. Location: Golgi apparatus membrane; Endosome membrane (UniProt). Locus 6q25.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ikbkb","kind":"target","name":"IKBKB","aka":["inhibitor of nuclear factor kappa B kinase subunit beta","Inhibitor of nuclear factor kappa-B kinase subunit beta","IKK2","NFKBIKB","IKK-beta"],"tldr":"IKBKB (Inhibitor of nuclear factor kappa-B kinase subunit beta) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and an oncogene driver, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Multiple myeloma, Skin cancer, Breast cancer and 2 more.","summary":"Serine kinase that plays an essential role in the NF-kappa-B signalling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as a part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation. Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.90, clinical 0.08). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5960","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5960"},{"label":"UniProt O14920","url":"https://www.uniprot.org/uniprotkb/O14920/entry"},{"label":"NCBI Gene 3551","url":"https://www.ncbi.nlm.nih.gov/gene/3551"},{"label":"Ensembl ENSG00000104365","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104365"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["multiple-myeloma","skin-cancer","breast-cancer","lung-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.12; IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IKBKB","role":["drug-target","oncogene-driver"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5960","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5960","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14920","url":"https://www.uniprot.org/uniprotkb/O14920/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104365","url":"https://platform.opentargets.org/target/ENSG00000104365/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: melanoma 0.57, skin cancer 0.56, breast cancer 0.54, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen IKBKB","url":"https://www.intogen.org/search?gene=IKBKB","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA IKBKB: RNA low tissue specificity; no normal tissue stained high; highest cancer staining endometrial cancer (9 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Skin cancer (all types), Breast cancer (all types), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O14920","url":"https://www.uniprot.org/uniprotkb/O14920/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen IKBKB","url":"https://www.intogen.org/search?gene=IKBKB","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas IKBKB tissue","url":"https://www.proteinatlas.org/ENSG00000104365-IKBKB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000104365 associations","url":"https://platform.opentargets.org/target/ENSG00000104365/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5960","ensembl":"ENSG00000104365","uniprot":"O14920","entrez":"3551","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mercurio et al, Science, 1997, \"IKK-1 and IKK-2: cytokine-activated IkappaB kinases essential for NF-kappaB activation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9346484/","biology":"Serine kinase that plays an essential role in the NF-kappa-B signalling pathway which is activated by multiple stimuli such as inflammatory cytokines, bacterial or viral products, DNA damages or other cellular stresses. Acts as a part of the canonical IKK complex in the conventional pathway of NF-kappa-B activation. Phosphorylates inhibitors of NF-kappa-B on 2 critical serine residues. These modifications allow polyubiquitination of the inhibitors and subsequent degradation by the proteasome. In turn, free NF-kappa-B is translocated into the nucleus and activates the transcription of hundreds of genes involved in immune response, growth control, or protection against apoptosis. In addition to the NF-kappa-B inhibitors, phosphorylates several other components of the signalling pathway including NEMO/IKBKG, NF-kappa-B subunits RELA and NFKB1, as well as IKK-related kinases TBK1 and IKBKE. Location: Cytoplasm; Nucleus; Membrane raft (UniProt). Locus 8p11.21 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Melanoma: Open Targets association 0.57 with melanoma (MONDO_0005105)"],"targetClass":"kinase","prevalence":[]},{"id":"ikzf1","kind":"target","name":"IKZF1 (Ikaros)","aka":["Ikaros","IKAROS","ZNFN1A1","IKAROS family zinc finger 1"],"tldr":"Ikaros is a transcription factor that myeloma cells depend on. Lenalidomide, pomalidomide and the newer CELMoDs work by gluing Ikaros to the cell's disposal machinery so it is destroyed, which kills the plasma cell and wakes up T cells.","summary":"IKZF1 (chromosome 7p12.2) encodes Ikaros, a zinc-finger transcription regulator of haematopoietic differentiation and B- and T-lymphocyte development that binds gamma-satellite DNA, activates the CD3-delta enhancer, represses TDT during thymocyte differentiation, and regulates transcription through HDAC-dependent and independent complexes and the NuRD and BAF chromatin remodellers; dominant-negative isoforms modulate its function (UniProt Q13422). In OnCo it is the neosubstrate that thalidomide, lenalidomide and pomalidomide recruit to cereblon for ubiquitination and proteasomal degradation, and that golcadomide, a cereblon E3 ligase modulator, degrades alongside Aiolos; the loss lowers IRF4 and MYC in myeloma cells and stimulates T cells.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:13176","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13176"},{"label":"UniProt Q13422","url":"https://www.uniprot.org/uniprotkb/Q13422/entry"},{"label":"NCBI Gene 10320","url":"https://www.ncbi.nlm.nih.gov/gene/10320"}],"tags":["wave5-target"],"related":["cereblon","ikzf3","irf4","myc"],"cancers":["multiple-myeloma","dlbcl"],"sections":[],"technologies":["celmods","molecular-glue-platforms"],"targets":[],"drugs":["lenalidomide","pomalidomide","thalidomide","golcadomide"],"companies":[],"institutions":[],"pathways":["ubiquitin-proteasome-system","transcription-addiction"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"IKZF1","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal bone marrow cells and lymphoid tissue cells: HPA finds the gene group enriched in bone marrow, lymphoid tissue, and the 4 medicines aimed at it (Lenalidomide, Pomalidomide, Thalidomide and more) act on the wild-type protein, so the normal lineage is hit too. HPA IKZF1: RNA group enriched (bone marrow 160 nTPM, lymphoid tissue 99 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute lymphoblastic leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IKZF1 tissue","url":"https://www.proteinatlas.org/ENSG00000185811-IKZF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas IKZF1 pathology","url":"https://www.proteinatlas.org/ENSG00000185811-IKZF1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185811 associations","url":"https://platform.opentargets.org/target/ENSG00000185811/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13176","ensembl":"ENSG00000185811","uniprot":"Q13422","entrez":"10320","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nietfeld et al, Immunol. Lett, 1996, \"Cloning and sequencing of hIk-1, a cDNA encoding a human homologue of mouse Ikaros/LyF-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8964602/","biology":"Ikaros is degraded rather than inhibited: the immunomodulatory drugs bind cereblon in the CRL4 ubiquitin ligase and change its substrate preference so that Ikaros and Aiolos are ubiquitinated and destroyed (lenalidomide mechanism steps). The lenalidomide record calls this the basis for CELMoDs and molecular-glue degraders generally.","whereFound":["Multiple myeloma (degradation by immunomodulatory drugs and CELMoDs)","Diffuse large B-cell lymphoma (lenalidomide; golcadomide trials)","Kaposi sarcoma (pomalidomide)"],"targetClass":"transcription","prevalence":[]},{"id":"ikzf3","kind":"target","name":"IKZF3 (Aiolos)","aka":["Aiolos","ZNFN1A3","IKAROS family zinc finger 3"],"tldr":"Aiolos is Ikaros' partner transcription factor in B cells and plasma cells. The myeloma drugs lenalidomide, pomalidomide and golcadomide destroy Aiolos and Ikaros together by rerouting them to the cell's protein-disposal system.","summary":"IKZF3 (chromosome 17q12-q21.1) encodes Aiolos, a transcription factor that regulates lymphocyte differentiation and is essential for B-cell differentiation, proliferation and maturation to an effector state; it regulates BCL2 expression and controls IL-2-dependent apoptosis in T cells (UniProt Q9UKT9). In OnCo it is the second cereblon neosubstrate, alongside Ikaros, that lenalidomide and pomalidomide recruit for ubiquitination and proteasomal degradation and that golcadomide degrades; the loss lowers IRF4 and MYC in myeloma cells and stimulates T and NK cells.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:13178","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13178"},{"label":"UniProt Q9UKT9","url":"https://www.uniprot.org/uniprotkb/Q9UKT9/entry"},{"label":"NCBI Gene 22806","url":"https://www.ncbi.nlm.nih.gov/gene/22806"}],"tags":["wave5-target"],"related":["cereblon","ikzf1","irf4","bcl2"],"cancers":["multiple-myeloma","myeloma-relapsed-refractory","dlbcl"],"sections":[],"technologies":["celmods","molecular-glue-platforms"],"targets":[],"drugs":["lenalidomide","pomalidomide","golcadomide"],"companies":[],"institutions":[],"pathways":["ubiquitin-proteasome-system","transcription-addiction"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"IKZF3","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal T-cells: HPA finds the gene group enriched in that blood lineage, and the 3 medicines aimed at it (Lenalidomide, Pomalidomide, Golcadomide) act on the wild-type protein, so the normal lineage is hit too. HPA IKZF3: RNA group enriched (intestine 11 nTPM, lymphoid tissue 38 nTPM); blood lineage group enriched (B-cells 13 nTPM, T-cells 29 nTPM); high antibody staining in 7 normal tissues; highest cancer staining lymphoma (9 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IKZF3 tissue","url":"https://www.proteinatlas.org/ENSG00000161405-IKZF3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas IKZF3 pathology","url":"https://www.proteinatlas.org/ENSG00000161405-IKZF3/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000161405 associations","url":"https://platform.opentargets.org/target/ENSG00000161405/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13178","ensembl":"ENSG00000161405","uniprot":"Q9UKT9","entrez":"22806","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hosokawa et al, Genomics, 1999, \"Human aiolos, an ikaros-related zinc finger DNA binding protein: cDNA cloning, tissue expression pattern, and chromosomal mapping\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10552935/","biology":"Aiolos and Ikaros are destroyed by the same molecular-glue mechanism: the drug binds cereblon in the CRL4 ligase, the complex gains affinity for both transcription factors, and both are ubiquitinated (lenalidomide mechanism steps). Pomalidomide keeps this activity after lenalidomide failure.","whereFound":["Multiple myeloma (degradation by immunomodulatory drugs and CELMoDs)","Diffuse large B-cell lymphoma (golcadomide trials)"],"targetClass":"transcription","prevalence":[]},{"id":"il11ra","kind":"target","name":"IL-11 receptor alpha","aka":[],"tldr":"The IL-11 receptor was the target of oprelvekin, the first drug approved to prevent the severe platelet falls that chemotherapy causes; the drug was withdrawn in 2011 and thrombopoietin agonists took over the problem.","summary":"Interleukin-11 receptor subunit alpha pairs with gp130 to carry the signal of interleukin-11, a cytokine that drives megakaryocytes to mature and release platelets. Recombinant IL-11 (oprelvekin, Neumega) was approved in the United States in 1997 to prevent severe thrombocytopenia after myelosuppressive chemotherapy, but fluid retention and cardiac side effects limited its use and it was withdrawn from the market in 2011. IL-11 signalling is now studied as a driver of fibrosis and of tumour-supporting inflammation in stomach and bowel cancers.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Interleukin_11_receptor_alpha_subunit","links":[{"label":"UniProt Q14626: IL11RA","url":"https://www.uniprot.org/uniprotkb/Q14626/entry"},{"label":"HGNC:5967 IL11RA","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5967"},{"label":"ChEMBL target CHEMBL2050","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2050"}],"tags":["chembl-gap"],"related":["jak2"],"cancers":["gastric","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["oprelvekin"],"companies":[],"institutions":[],"pathways":[],"terms":["thrombocytopenia"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"IL11RA","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA IL11RA: RNA tissue enhanced (heart muscle 36 nTPM); high antibody staining in 7 normal tissues; highest cancer staining liver cancer (4 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IL11RA tissue","url":"https://www.proteinatlas.org/ENSG00000137070-IL11RA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q14626","url":"https://www.uniprot.org/uniprotkb/Q14626/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000137070 associations","url":"https://platform.opentargets.org/target/ENSG00000137070/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5967","ensembl":"ENSG00000137070","uniprot":"Q14626","entrez":"3590","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cherel et al, Blood, 1995, \"Molecular cloning of two isoforms of a receptor for the human hematopoietic cytokine interleukin-11\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7670098/","biology":"A cytokine receptor of the IL-6 family; ligand binding recruits gp130 and activates JAK-STAT3 signalling in megakaryocytes, epithelial cells and fibroblasts.","whereFound":["Megakaryocytes and bone marrow stroma","Gastric and colorectal tumour epithelium and fibroblasts"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"metastatic-cancer","pct":"host","measure":"Host target: IL-11 receptor on platelet precursors. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"il2rb","kind":"target","name":"IL2RB","aka":["interleukin 2 receptor subunit beta","Interleukin-2 receptor subunit beta","CD122","IL15RB"],"tldr":"IL2RB (Interleukin-2 receptor subunit beta) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Skin cancer, Leukaemia, Renal cell carcinoma and 3 more.","summary":"Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.84, animal model 0.52, genetic association 0.00, clinical 0.96). In OnCo, 1 product record names it (Bempegaldesleukin).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6009","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6009"},{"label":"UniProt P14784","url":"https://www.uniprot.org/uniprotkb/P14784/entry"},{"label":"NCBI Gene 3560","url":"https://www.ncbi.nlm.nih.gov/gene/3560"},{"label":"Ensembl ENSG00000100385","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100385"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","leukaemia","rcc","non-hodgkin-lymphoma","cutaneous-t-cell-lymphoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["bempegaldesleukin"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IL2RB","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6009","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6009","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14784","url":"https://www.uniprot.org/uniprotkb/P14784/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100385","url":"https://platform.opentargets.org/target/ENSG00000100385/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: renal cell carcinoma 0.52, melanoma 0.55, non-Hodgkin lymphoma 0.51, skin cancer 0.56, leukaemia 0.53, primary cutaneous T-cell non-Hodgkin lymphoma 0.55 (GraphQL API, CC0)"}],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal NK-cells and T-cells and bone marrow cells and lymphoid tissue cells: HPA finds the gene tissue enhanced in bone marrow, lymphoid tissue, and the 1 medicine aimed at it (Bempegaldesleukin) act on the wild-type protein, so the normal lineage is hit too. HPA IL2RB: RNA tissue enhanced (bone marrow 33 nTPM, lymphoid tissue 46 nTPM); blood lineage group enriched (NK-cells 184 nTPM, T-cells 50 nTPM); no normal tissue stained high. Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Leukaemia, Renal cell carcinoma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (primary cutaneous T-cell non-Hodgkin lymphoma, renal cell carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IL2RB tissue","url":"https://www.proteinatlas.org/ENSG00000100385-IL2RB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas IL2RB pathology","url":"https://www.proteinatlas.org/ENSG00000100385-IL2RB/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100385 associations","url":"https://platform.opentargets.org/target/ENSG00000100385/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6009","ensembl":"ENSG00000100385","uniprot":"P14784","entrez":"3560","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hatakeyama et al, Science, 1989, \"Interleukin-2 receptor beta chain gene: generation of three receptor forms by cloned human alpha and beta chain cDNA's\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2785715/","biology":"Receptor for interleukin-2. This beta subunit is involved in receptor mediated endocytosis and transduces the mitogenic signals of IL2. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15. Location: Cell membrane (UniProt). Locus 22q12.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.53 with leukaemia (MONDO_0005059)","Renal cell carcinoma: Open Targets association 0.52 with renal cell carcinoma (MONDO_0005086)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Cutaneous T-cell lymphoma: Open Targets association 0.55 with primary cutaneous T-cell non-Hodgkin lymphoma (MONDO_0000607)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},{"id":"il2rg","kind":"target","name":"IL2RG","aka":["interleukin 2 receptor subunit gamma","Cytokine receptor common subunit gamma","CD132","SCIDX1","IMD4"],"tldr":"IL2RG (Cytokine receptor common subunit gamma) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Skin cancer, Renal cell carcinoma, Leukaemia and 3 more.","summary":"Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.90, animal model 0.54, genetic association 0.00, clinical 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6010"},{"label":"UniProt P31785","url":"https://www.uniprot.org/uniprotkb/P31785/entry"},{"label":"NCBI Gene 3561","url":"https://www.ncbi.nlm.nih.gov/gene/3561"},{"label":"Ensembl ENSG00000147168","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147168"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","rcc","leukaemia","non-hodgkin-lymphoma","melanoma","cutaneous-t-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IL2RG","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6010","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31785","url":"https://www.uniprot.org/uniprotkb/P31785/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147168","url":"https://platform.opentargets.org/target/ENSG00000147168/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: renal cell carcinoma 0.54, melanoma 0.55, non-Hodgkin lymphoma 0.51, skin cancer 0.56, leukaemia 0.54, primary cutaneous T-cell non-Hodgkin lymphoma 0.55 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA IL2RG: RNA tissue enhanced (intestine 109 nTPM, lymphoid tissue 318 nTPM); high antibody staining in 2 normal tissues. Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Renal cell carcinoma, Leukaemia, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (primary cutaneous T-cell non-Hodgkin lymphoma, renal cell carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas IL2RG tissue","url":"https://www.proteinatlas.org/ENSG00000147168-IL2RG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147168 associations","url":"https://platform.opentargets.org/target/ENSG00000147168/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6010","ensembl":"ENSG00000147168","uniprot":"P31785","entrez":"3561","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeshita et al, Science, 1992, \"Cloning of the gamma chain of the human IL-2 receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1631559/","biology":"Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15. Location: Cell membrane; Cell surface (UniProt). Locus Xq13.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Renal cell carcinoma: Open Targets association 0.54 with renal cell carcinoma (MONDO_0005086)","Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)","Cutaneous T-cell lymphoma: Open Targets association 0.55 with primary cutaneous T-cell non-Hodgkin lymphoma (MONDO_0000607)"],"targetClass":"other","prevalence":[]},{"id":"il33","kind":"target","name":"IL33","aka":["interleukin 33","Interleukin-33","DVS27","DKFZp586H0523","NF-HEV","IL1F11","C9orf26"],"tldr":"IL33 (Interleukin-33) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signalling pathways in target cells. Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines. Also involved in activation of mast cells, basophils, eosinophils and natural killer cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16028","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16028"},{"label":"UniProt O95760","url":"https://www.uniprot.org/uniprotkb/O95760/entry"},{"label":"NCBI Gene 90865","url":"https://www.ncbi.nlm.nih.gov/gene/90865"},{"label":"Ensembl ENSG00000137033","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137033"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: High Grade Glioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IL33","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16028","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16028","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95760","url":"https://www.uniprot.org/uniprotkb/O95760/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene IL33","url":"https://civicdb.org/features/16802","note":"1 evidence items, 0 assertions, 1 variants; diseases: High Grade Glioma (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA IL33: RNA tissue enhanced (urinary bladder 114 nTPM); high antibody staining in 7 normal tissues; highest cancer staining glioma (4 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas IL33 tissue","url":"https://www.proteinatlas.org/ENSG00000137033-IL33/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137033 associations","url":"https://platform.opentargets.org/target/ENSG00000137033/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16028","ensembl":"ENSG00000137033","uniprot":"O95760","entrez":"90865","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Onda et al, J. Cereb. Blood Flow Metab, 1999, \"Identification of genes differentially expressed in canine vasospastic cerebral arteries after subarachnoid hemorrhage\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10566975/","biology":"Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signalling pathways in target cells. Involved in the maturation of Th2 cells inducing the secretion of T-helper type 2-associated cytokines. Also involved in activation of mast cells, basophils, eosinophils and natural killer cells. Acts as an enhancer of polarisation of alternatively activated macrophages. Acts as a chemoattractant for Th2 cells, and may function as an 'alarmin', that amplifies immune responses during tissue injury. Induces rapid UCP2-dependent mitochondrial rewiring that attenuates the generation of reactive oxygen species and preserves the integrity of Krebs cycle required for persistent production of itaconate and subsequent GATA3-dependent differentiation of inflammation-resolving alternatively activated macrophages. Location: Nucleus; Chromosome; Cytoplasm; Cytoplasmic vesicle, secretory vesicle (UniProt). Locus 9p24.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"il4r","kind":"target","name":"IL4R","aka":["interleukin 4 receptor","Interleukin-4 receptor subunit alpha","CD124"],"tldr":"IL4R (Interleukin-4 receptor subunit alpha) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6015","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6015"},{"label":"UniProt P24394","url":"https://www.uniprot.org/uniprotkb/P24394/entry"},{"label":"NCBI Gene 3566","url":"https://www.ncbi.nlm.nih.gov/gene/3566"},{"label":"Ensembl ENSG00000077238","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077238"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IL4R","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6015","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6015","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P24394","url":"https://www.uniprot.org/uniprotkb/P24394/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene IL4R","url":"https://civicdb.org/features/2967","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA IL4R: RNA low tissue specificity; blood lineage group enriched (B-cells 77 nTPM, granulocytes 31 nTPM); no normal tissue stained high; highest cancer staining glioma (1 of 9 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IL4R tissue","url":"https://www.proteinatlas.org/ENSG00000077238-IL4R/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000077238 associations","url":"https://platform.opentargets.org/target/ENSG00000077238/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6015","ensembl":"ENSG00000077238","uniprot":"P24394","entrez":"3566","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Idzerda R.L. et al, J. Exp. Med, 1990, \"Human interleukin 4 receptor confers biological responsiveness and defines a novel receptor superfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2307934/","biology":"Receptor for both interleukin 4 and interleukin 13. Couples to the JAK1/2/3-STAT6 pathway. The IL4 response is involved in promoting Th2 differentiation. The IL4/IL13 responses are involved in regulating IgE production and, chemokine and mucus production at sites of allergic inflammation. In certain cell types, can signal through activation of insulin receptor substrates, IRS1/IRS2. Soluble IL4R (sIL4R) inhibits IL4-mediated cell proliferation and IL5 up-regulation by T-cells. Location: Cell membrane; Secreted (UniProt). Locus 16p12.1 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"il6st","kind":"target","name":"IL6ST","aka":["interleukin 6 cytokine family signal transducer","Interleukin-6 receptor subunit beta","GP130","CD130","sGP130","IL-6RB"],"tldr":"IL6ST (Interleukin-6 receptor subunit beta) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Prostate cancer, Colorectal cancer and 1 more.","summary":"Functions as a shared signal-transducing subunit not only for IL6 but also for other cytokine receptor complexes, including IL6, LIF, OSM, CNTF, IL11, CTF1, BSF3, MT-RNR2/humanin, CLCF1 and the heterodimeric complex CRLF1-CLCF1. Engages site 2 of CNTF, CLCF1, LIF, and IL-6, and site 3 of IL27 and IL6. Initiates signal transmission through three mechanisms.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes affected pathway 0.31, literature 0.95, genetic association 0.00, somatic mutation 0.85, animal model 0.57). IntOGen calls it a driver in 4 cohorts (2 activating, 1 loss-of-function), covering Hepatocellular Carcinoma, Prostate Adenocarcinoma, Prostate.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6021","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6021"},{"label":"UniProt P40189","url":"https://www.uniprot.org/uniprotkb/P40189/entry"},{"label":"NCBI Gene 3572","url":"https://www.ncbi.nlm.nih.gov/gene/3572"},{"label":"Ensembl ENSG00000134352","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134352"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","prostate","colorectal","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IL6ST","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6021","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6021","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P40189","url":"https://www.uniprot.org/uniprotkb/P40189/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000134352","url":"https://platform.opentargets.org/target/ENSG00000134352/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.55, skin cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen IL6ST","url":"https://www.intogen.org/search?gene=IL6ST","note":"driver in 4 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6021","ensembl":"ENSG00000134352","uniprot":"P40189","entrez":"3572","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hibi et al, Cell, 1990, \"Molecular cloning and expression of an IL-6 signal transducer, gp130\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2261637/","biology":"Functions as a shared signal-transducing subunit not only for IL6 but also for other cytokine receptor complexes, including IL6, LIF, OSM, CNTF, IL11, CTF1, BSF3, MT-RNR2/humanin, CLCF1 and the heterodimeric complex CRLF1-CLCF1. Engages site 2 of CNTF, CLCF1, LIF, and IL-6, and site 3 of IL27 and IL6. Initiates signal transmission through three mechanisms. Binding of cytokines, such as IL6 or IL11 to the alpha-chains of their specific cell surface receptor triggers homodimerisation of IL6ST/gp130. In contrast, binding of other IL-6 family cytokines can result in the formation of a IL6ST/gp130 heterodimer with another signal-transducing receptor, such as LIFR or OSMR. Moreover, binding of CNTF or CLCF1 or the heterodimeric complex CRLF1-CLCF1 or MT-RNR2/humanin to the non-signalling receptor CNTFR induces heterodimerisation of the IL6ST/gp130 with LIFR or IL27RA/WSX1 (in the case of MT-RNR2/humanin). Location: Cell membrane; Secreted (UniProt). Locus 5q11.2 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 2 cohorts (HCC)","Prostate cancer: IntOGen driver in 2 cohorts (PRAD, PROSTATE)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)"],"targetClass":"oncogene","prevalence":[]},{"id":"il7r","kind":"target","name":"IL7R","aka":["interleukin 7 receptor","Interleukin-7 receptor subunit alpha","CD127","IL7RA","lnc-IL7R","IL-7Ralpha","IL7Ralpha","sIL-7R","CDw127"],"tldr":"IL7R (Interleukin-7 receptor subunit alpha) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Leukaemia, Non-Hodgkin lymphoma and 5 more.","summary":"Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP).\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants. Open Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.98, animal model 0.42, genetic association 0.36, somatic mutation 0.86). IntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Acute Lymphoblastic Leukaemia, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6024","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6024"},{"label":"UniProt P16871","url":"https://www.uniprot.org/uniprotkb/P16871/entry"},{"label":"NCBI Gene 3575","url":"https://www.ncbi.nlm.nih.gov/gene/3575"},{"label":"Ensembl ENSG00000168685","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168685"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","leukaemia","non-hodgkin-lymphoma","esophageal","hcc","gastric","lung-cancer","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: T-cell Acute Lymphoblastic Leukaemia; Childhood B-cell Acute Lymphoblastic Leukaemia; B-lymphoblastic Leukaemia/lymphoma, BCR-ABL1-like."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IL7R","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6024","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6024","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16871","url":"https://www.uniprot.org/uniprotkb/P16871/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene IL7R","url":"https://civicdb.org/features/2975","note":"3 evidence items, 0 assertions, 3 variants; diseases: T-cell Acute Lymphoblastic Leukaemia, Childhood B-cell Acute Lymphoblastic Leukaemia, B-lymphoblastic Leukaemia/lymphoma, BCR-ABL1-like (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000168685","url":"https://platform.opentargets.org/target/ENSG00000168685/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: melanoma 0.57, acute lymphoblastic leukaemia 0.59, non-Hodgkin lymphoma 0.61, skin cancer 0.64, lung cancer 0.56, leukaemia 0.62 (GraphQL API, CC0)"},{"label":"IntOGen IL7R","url":"https://www.intogen.org/search?gene=IL7R","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA IL7R: RNA tissue enhanced (lymphoid tissue 171 nTPM); blood lineage group enriched (NK-cells 113 nTPM, T-cells 370 nTPM); high antibody staining in 1 normal tissue. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Leukaemia, Lymphoma, Oesophageal cancer, Hepatocellular carcinoma, Gastric & gastro-oesophageal junction cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P16871","url":"https://www.uniprot.org/uniprotkb/P16871/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene IL7R","url":"https://civicdb.org/features/2975","note":"3 evidence items, 0 assertions, 3 variants; diseases: T-cell Acute Lymphoblastic Leukaemia, Childhood B-cell Acute Lymphoblastic Leukaemia, B-lymphoblastic Leukaemia/lymphoma, BCR-ABL1-like (GraphQL API, CC0)"},{"label":"IntOGen IL7R","url":"https://www.intogen.org/search?gene=IL7R","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas IL7R tissue","url":"https://www.proteinatlas.org/ENSG00000168685-IL7R/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000168685 associations","url":"https://platform.opentargets.org/target/ENSG00000168685/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6024","ensembl":"ENSG00000168685","uniprot":"P16871","entrez":"3575","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Goodwin R.G. et al, Cell, 1990, \"Cloning of the human and murine interleukin-7 receptors: demonstration of a soluble form and homology to a new receptor superfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2317865/","biology":"Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP). Location: Cell membrane; Secreted (UniProt). Locus 5p13.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.64 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"impdh2","kind":"target","name":"IMP dehydrogenase (IMPDH2)","aka":[],"tldr":"IMPDH is the bottleneck enzyme for making guanine nucleotides; mycophenolate blocks it to hold back the donor T cells that cause graft-versus-host disease after stem cell transplantation, and the enzyme is over-expressed in fast-growing tumours.","summary":"Inosine monophosphate dehydrogenase catalyses the rate-limiting step of guanine nucleotide synthesis, and the type 2 isoform is induced in proliferating lymphocytes and in many cancers. Mycophenolate mofetil, a prodrug of the IMPDH inhibitor mycophenolic acid, is used with a calcineurin inhibitor to prevent graft-versus-host disease after allogeneic stem cell transplantation, and IMPDH is also the target of the old antileukaemic drug tiazofurin and part of the action of ribavirin. Because glioblastoma, small-cell lung cancer and other tumours depend on IMPDH2 for nucleotide supply, repurposing mycophenolate as an anticancer agent is in early trials.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/IMP_dehydrogenase","links":[{"label":"UniProt P12268: IMPDH2","url":"https://www.uniprot.org/uniprotkb/P12268/entry"},{"label":"HGNC:6053 IMPDH2","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6053"},{"label":"ChEMBL target CHEMBL2111369","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2111369"}],"tags":["chembl-gap"],"related":["dhfr","gart"],"cancers":["glioblastoma","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["gvhd"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"IMPDH2","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:6053","ensembl":"ENSG00000178035","uniprot":"P12268","entrez":"3615","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Collart F.R. et al, J. Biol. Chem, 1988, \"Cloning and sequence analysis of the human and Chinese hamster inosine-5'-monophosphate dehydrogenase cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2902093/","biology":"A tetrameric NAD-dependent dehydrogenase that oxidises IMP to XMP; lymphocytes rely on this de novo route because they lack an efficient guanine salvage pathway.","whereFound":["Activated lymphocytes","Glioblastoma, small-cell lung cancer and other rapidly dividing tumours"],"targetClass":"enzyme","prevalence":[{"cancerId":"prostate","pct":"host","measure":"Host enzyme in normal and malignant prostate; finasteride and dutasteride were tested for prevention, not as a tumour marker","source":"https://www.cancer.gov/types/prostate/hp/prostate-prevention-pdq"}]},{"id":"impdh1","kind":"target","name":"IMPDH1","aka":["inosine monophosphate dehydrogenase 1","Inosine-5'-monophosphate dehydrogenase 1","sWSS2608","LCA11","RP10"],"tldr":"IMPDH1 (Inosine-5'-monophosphate dehydrogenase 1) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Non-Hodgkin lymphoma, Myeloproliferative neoplasms and 2 more.","summary":"Catalyses the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumours.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.94, animal model 0.50, genetic association 0.00, clinical 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6052","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6052"},{"label":"UniProt P20839","url":"https://www.uniprot.org/uniprotkb/P20839/entry"},{"label":"NCBI Gene 3614","url":"https://www.ncbi.nlm.nih.gov/gene/3614"},{"label":"Ensembl ENSG00000106348","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106348"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","myeloproliferative-neoplasms","all-leukemia","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.92. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IMPDH1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6052","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6052","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20839","url":"https://www.uniprot.org/uniprotkb/P20839/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000106348","url":"https://platform.opentargets.org/target/ENSG00000106348/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.53, acute lymphoblastic leukaemia 0.53, non-Hodgkin lymphoma 0.54, myeloproliferative neoplasm 0.53, leukaemia 0.56 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA IMPDH1: RNA tissue enhanced (retina 99 nTPM); blood lineage group enriched (dendritic cells 60 nTPM, granulocytes 198 nTPM, monocytes 137 nTPM); high antibody staining in 1 normal tissue; highest cancer staining lymphoma (2 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute lymphoblastic leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas IMPDH1 tissue","url":"https://www.proteinatlas.org/ENSG00000106348-IMPDH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106348 associations","url":"https://platform.opentargets.org/target/ENSG00000106348/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6052","ensembl":"ENSG00000106348","uniprot":"P20839","entrez":"3614","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Natsumeda et al, J. Biol. Chem, 1990, \"Two distinct cDNAs for human IMP dehydrogenase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1969416/","biology":"Catalyses the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumours. Location: Cytoplasm; Nucleus (UniProt). Locus 7q32.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.56 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.54 with non-Hodgkin lymphoma (MONDO_0018908)","Myeloproliferative neoplasms: Open Targets association 0.53 with myeloproliferative neoplasm (MONDO_0020076)","Acute lymphoblastic leukaemia: Open Targets association 0.53 with acute lymphoblastic leukaemia (MONDO_0004967)","Acute myeloid leukaemia: Open Targets association 0.53 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"enzyme","prevalence":[]},{"id":"incenp","kind":"target","name":"INCENP","aka":["inner centromere protein","Inner centromere protein","FLJ31633"],"tldr":"INCENP (Inner centromere protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilisation and spindle assembly. Acts as a scaffold regulating CPC localisation and activity.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.50, genetic association 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6058","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6058"},{"label":"UniProt Q9NQS7","url":"https://www.uniprot.org/uniprotkb/Q9NQS7/entry"},{"label":"NCBI Gene 3619","url":"https://www.ncbi.nlm.nih.gov/gene/3619"},{"label":"Ensembl ENSG00000149503","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000149503"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"INCENP","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6058","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6058","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NQS7","url":"https://www.uniprot.org/uniprotkb/Q9NQS7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000149503","url":"https://platform.opentargets.org/target/ENSG00000149503/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6058","ensembl":"ENSG00000149503","uniprot":"Q9NQS7","entrez":"3619","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Adams R.R. et al, Chromosoma, 2001, \"Human INCENP colocalizes with the Aurora-B/AIRK2 kinase on chromosomes and is overexpressed in tumour cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11453556/","biology":"Component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilisation and spindle assembly. Acts as a scaffold regulating CPC localisation and activity. The C-terminus associates with AURKB or AURKC, the N-terminus associated with BIRC5/survivin and CDCA8/borealin tethers the CPC to the inner centromere, and the microtubule binding activity within the central SAH domain directs AURKB/C toward substrates near microtubules. The flexibility of the SAH domain is proposed to allow AURKB/C to follow substrates on dynamic microtubules while ensuring CPC docking to static chromatin. Activates AURKB and AURKC. Location: Nucleus; Chromosome, centromere; Cytoplasm, cytoskeleton, spindle; Midbody (UniProt). Locus 11q12.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ing1","kind":"target","name":"ING1","aka":["inhibitor of growth family member 1","Inhibitor of growth protein 1","p33ING1","p33ING1b","p24ING1c","p33","p47","p47ING1a"],"tldr":"ING1 (Inhibitor of growth protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Head and neck squamous cell carcinoma, Colorectal cancer and Endometrial cancer.","summary":"Cooperates with p53/TP53 in the negative regulatory pathway of cell growth by modulating p53-dependent transcriptional activation. Implicated as a tumour suppressor gene.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.49, somatic mutation 0.73, genetic literature 0.61). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Colorectal Adenocarcinoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6062","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6062"},{"label":"UniProt Q9UK53","url":"https://www.uniprot.org/uniprotkb/Q9UK53/entry"},{"label":"NCBI Gene 3621","url":"https://www.ncbi.nlm.nih.gov/gene/3621"},{"label":"Ensembl ENSG00000153487","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153487"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["head-and-neck","colorectal","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ING1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6062","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6062","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UK53","url":"https://www.uniprot.org/uniprotkb/Q9UK53/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000153487","url":"https://platform.opentargets.org/target/ENSG00000153487/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: head and neck squamous cell carcinoma 0.59 (GraphQL API, CC0)"},{"label":"IntOGen ING1","url":"https://www.intogen.org/search?gene=ING1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6062","ensembl":"ENSG00000153487","uniprot":"Q9UK53","entrez":"3621","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Garkavtsev I.A. et al, Nat. Genet, 1996, \"Suppression of the novel growth inhibitor p33ING1 promotes neoplastic transformation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8944021/","biology":"Cooperates with p53/TP53 in the negative regulatory pathway of cell growth by modulating p53-dependent transcriptional activation. Implicated as a tumour suppressor gene. Location: Nucleus (UniProt). Locus 13q34 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: Open Targets association 0.59 with head and neck squamous cell carcinoma (MONDO_0010150)","Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"inhbb","kind":"target","name":"INHBB","aka":["inhibin subunit beta B","Inhibin beta B chain"],"tldr":"INHBB (Inhibin beta B chain) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.93, animal model 0.51, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6067","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6067"},{"label":"UniProt P09529","url":"https://www.uniprot.org/uniprotkb/P09529/entry"},{"label":"NCBI Gene 3625","url":"https://www.ncbi.nlm.nih.gov/gene/3625"},{"label":"Ensembl ENSG00000163083","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163083"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"INHBB","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6067","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6067","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09529","url":"https://www.uniprot.org/uniprotkb/P09529/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163083","url":"https://platform.opentargets.org/target/ENSG00000163083/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: prostate cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6067","ensembl":"ENSG00000163083","uniprot":"P09529","entrez":"3625","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mason A.J. et al, Biochem. Biophys. Res. Commun, 1986, \"Structure of two human ovarian inhibins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3754442/","biology":"Inhibins and activins inhibit and activate, respectively, the secretion of follitropin by the pituitary gland. Inhibins/activins are involved in regulating a number of diverse functions such as hypothalamic and pituitary hormone secretion, gonadal hormone secretion, germ cell development and maturation, erythroid differentiation, insulin secretion, nerve cell survival, embryonic axial development or bone growth, depending on their subunit composition. Inhibins appear to oppose the functions of activins. Activin B is a dimer of alpha and beta-B that plays a role in several essential biological processes including embryonic development, stem cell maintenance and differentiation, haematopoiesis, cell proliferation and wound healing. Signals through type I receptor ACVR1C, abundantly expressed in pancreatic beta cells, and type II receptors like ACVR2A or BMPR2. Upon ligand binding, these receptors phosphorylate intracellular signalling mediators SMAD2 and SMAD3, which form a complex with SMAD4, translocate to the nucleus, and regulate gene expression. Location: Secreted (UniProt). Locus 2q14.2 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"inppl1","kind":"target","name":"INPPL1","aka":["inositol polyphosphate phosphatase like 1","Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2","SHIP2"],"tldr":"INPPL1 (Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Endometrial cancer.","summary":"Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyses the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Required for correct mitotic spindle orientation and therefore progression of mitosis. Plays a central role in regulation of PI3K-dependent insulin signalling, although the precise molecular mechanisms and signalling pathways remain unclear.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6080","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6080"},{"label":"UniProt O15357","url":"https://www.uniprot.org/uniprotkb/O15357/entry"},{"label":"NCBI Gene 3636","url":"https://www.ncbi.nlm.nih.gov/gene/3636"},{"label":"Ensembl ENSG00000165458","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165458"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"INPPL1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6080","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6080","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15357","url":"https://www.uniprot.org/uniprotkb/O15357/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen INPPL1","url":"https://www.intogen.org/search?gene=INPPL1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6080","ensembl":"ENSG00000165458","uniprot":"O15357","entrez":"3636","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hejna J.A. et al, Genomics, 1995, \"Cloning and characterization of a human cDNA (INPPL1) sharing homology with inositol polyphosphate phosphatases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8530088/","biology":"Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyses the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) to produce PtdIns(3,4)P2, thereby negatively regulating the PI3K (phosphoinositide 3-kinase) pathways. Required for correct mitotic spindle orientation and therefore progression of mitosis. Plays a central role in regulation of PI3K-dependent insulin signalling, although the precise molecular mechanisms and signalling pathways remain unclear. While overexpression reduces both insulin-stimulated MAP kinase and Akt activation, its absence does not affect insulin signalling or GLUT4 trafficking. Confers resistance to dietary obesity. May act by regulating AKT2, but not AKT1, phosphorylation at the plasma membrane. Location: Cytoplasm, cytosol; Cytoplasm, cytoskeleton; Membrane; Cell projection, filopodium (UniProt). Locus 11q13.4 (HGNC).","whereFound":["Endometrial cancer: IntOGen driver in 1 cohort (UCEC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ifnar1","kind":"target","name":"Interferon alpha receptor (IFNAR1)","aka":[],"tldr":"The receptor through which interferon alpha alerts immune cells and slows tumour growth. Interferon was one of the first immunotherapies, used in melanoma, hairy cell leukaemia and chronic myeloid leukaemia, and has largely given way to targeted drugs and checkpoint inhibitors.","summary":"IFNAR1 pairs with IFNAR2 to form the receptor for all type I interferons; binding activates JAK1 and TYK2 and the STAT1 and STAT2 transcription factors that induce antiviral, antiproliferative and immune-stimulating genes. Recombinant interferon alfa-2b was approved for hairy cell leukaemia in 1986, then for melanoma, follicular lymphoma, Kaposi sarcoma and chronic myeloid leukaemia, but flu-like symptoms, depression and modest benefit meant that cladribine, imatinib, rituximab and checkpoint inhibitors replaced it. Pegylated interferon remains useful in myeloproliferative neoplasms, and endogenous type I interferon signalling within tumours predicts response to immunotherapy.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/IFNAR1","links":[{"label":"UniProt P17181: IFNAR1","url":"https://www.uniprot.org/uniprotkb/P17181/entry"}],"tags":[],"related":[],"cancers":["melanoma","hairy-cell-leukemia","cml"],"sections":[],"technologies":[],"targets":[],"drugs":["interferon-alfa"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"IFNAR1","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA IFNAR1: RNA low tissue specificity; no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Leukaemia); approvals of single-target medicines aimed at it also list Myeloid neoplasms, not counted; Open Targets associates it with 7 specific cancer types at or above 0.5 (melanoma, acquired polycythemia vera, chronic myeloid leukemia, essential thrombocythemia, hairy cell leukemia, plasma cell myeloma and more). (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IFNAR1 tissue","url":"https://www.proteinatlas.org/ENSG00000142166-IFNAR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P17181","url":"https://www.uniprot.org/uniprotkb/P17181/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000142166 associations","url":"https://platform.opentargets.org/target/ENSG00000142166/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5432","ensembl":"ENSG00000142166","uniprot":"P17181","entrez":"3454","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Uze et al, Cell, 1990, \"Genetic transfer of a functional human interferon alpha receptor into mouse cells: cloning and expression of its cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2153461/","biology":"Subunit of the type I interferon receptor signalling through JAK1, TYK2 and STAT1/STAT2 to induce interferon-stimulated genes.","whereFound":["Immune and tumour cells broadly; historic indications in melanoma, hairy cell leukaemia, CML and Kaposi sarcoma"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"immune","measure":"Immune-cell target (interferon alpha receptor on immune and tumour cells alike): expressed on immune cells rather than on the tumour, so patient selection rests on the cancer type and, in trials, on PD-L1 or immune biomarkers."}]},{"id":"il10","kind":"target","name":"Interleukin-10 (IL10)","aka":["IL-10","interleukin 10","CSIF"],"tldr":"IL-10 is a calming signal that many immune cells release; tumours and the viruses behind them raise it to keep the immune system quiet. Oddly, the main cancer drug built on it gave more IL-10 rather than less, and failed.","summary":"IL10 (chromosome 1q32.1) encodes a major immune-regulatory cytokine with profound anti-inflammatory functions that binds a heterotetrameric receptor of IL10RA and IL10RB and signals through JAK1 to STAT3; it is produced by T cells, macrophages, mast cells and other cell types (UniProt P22301). HPV up-regulates IL-10 and TGF-beta 1 to produce a local immunosuppressive environment (Torres-Poveda et al. 2014). Pegilodecakin, a pegylated IL-10 given to stimulate CD8 T cells, was tested against FOLFOX in pancreatic cancer in phase 3 (NCT02923921); its CYPRESS-1 and CYPRESS-2 studies with PD-1 antibodies closed early because the risk-benefit ratio was unfavourable (NCT03382899, NCT03382912). The corpus's LB4330 fuses IL-10 to a Claudin 18.2 antibody, again as an agonist.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:5962","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5962"},{"label":"UniProt P22301","url":"https://www.uniprot.org/uniprotkb/P22301/entry"},{"label":"NCBI Gene 3586","url":"https://www.ncbi.nlm.nih.gov/gene/3586"},{"label":"Torres-Poveda et al. 2014 (Europe PMC)","url":"https://europepmc.org/article/MED/25302175"},{"label":"ClinicalTrials.gov NCT03382899","url":"https://clinicaltrials.gov/study/NCT03382899"}],"tags":["checkpoint-map"],"related":["tgfb1","macrophage"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["lb4330"],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle","tgf-beta"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"IL10","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:5962","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5962","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P22301","url":"https://www.uniprot.org/uniprotkb/P22301/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:5962","ensembl":"ENSG00000136634","uniprot":"P22301","entrez":"3586","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vieira et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Isolation and expression of human cytokine synthesis inhibitory factor cDNA clones: homology to Epstein-Barr virus open reading frame BCRFI\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1847510/","biology":"A soluble cytokine, not a receptor; listed with the checkpoint families as a microenvironment brake because the cited review frames it so.","whereFound":["T cells, macrophages, mast cells (UniProt P22301)"],"targetClass":"other","prevalence":[]},{"id":"il6","kind":"target","name":"Interleukin-6 and IL-6 receptor","aka":[],"tldr":"Interleukin-6 is an inflammation messenger. Blocking it treats Castleman disease, a lymph node disorder, and calms the dangerous immune storm that CAR-T cell therapy can trigger.","summary":"Interleukin-6 is a pleiotropic cytokine signalling through the IL-6 receptor and gp130 to activate JAK-STAT3. In oncology it is targeted in two ways: siltuximab (anti-IL-6) is approved for idiopathic multicentric Castleman disease, where IL-6 drives the lymphoproliferation and systemic symptoms, and tocilizumab (anti-IL-6 receptor) is approved to treat severe or life-threatening cytokine release syndrome after CAR-T cell therapy and bispecific T-cell engagers. IL-6 also mediates cancer cachexia and tumour-promoting inflammation, and STAT3 activation downstream is a therapeutic target in its own right.","asOf":"2026-09-10","wikipedia":"https://en.wikipedia.org/wiki/Interleukin_6","links":[{"label":"NCBI Gene IL6","url":"https://www.ncbi.nlm.nih.gov/gene/3569"}],"tags":["cytokine"],"related":[],"cancers":["multiple-myeloma"],"sections":[],"technologies":["car-t","t-cell-engager"],"targets":[],"drugs":["siltuximab","tocilizumab"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["The myeloma row is a serum-cytokine measure, not tumour expression: IL-6 is produced largely by the marrow microenvironment and no approved IL-6 or IL-6R antibody is selected on IL-6 level.","Pancreatic ductal adenocarcinoma: IL-6 is the signature secretion of the inflammatory fibroblast state (iCAF) that sits away from the tumour cells, distinct from the myofibroblastic state that builds the desmoplastic stroma (Ohlund 2017)."],"symbol":"IL6, IL6R","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"one-type","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA IL6: RNA tissue enhanced (adipose tissue 188 nTPM, lung 141 nTPM, urinary bladder 256 nTPM); blood lineage lineage enriched (B-cells 5 nTPM); no normal tissue stained high. HPA IL6R: RNA tissue enhanced (liver 59 nTPM, skeletal muscle 91 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Multiple myeloma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IL6 tissue","url":"https://www.proteinatlas.org/ENSG00000136244-IL6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas IL6R tissue","url":"https://www.proteinatlas.org/ENSG00000160712-IL6R/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P05231","url":"https://www.uniprot.org/uniprotkb/P05231/entry","note":"involvement in disease"},{"label":"UniProt P08887","url":"https://www.uniprot.org/uniprotkb/P08887/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000136244 associations","url":"https://platform.opentargets.org/target/ENSG00000136244/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000160712 associations","url":"https://platform.opentargets.org/target/ENSG00000160712/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Classic signalling via membrane IL-6R on hepatocytes and leukocytes; trans-signalling via soluble IL-6R broadens the responsive cell range. IL-6 blockade masks fever and CRP, so infection surveillance must rely on other signs.","whereFound":["Multicentric Castleman disease","Cytokine release syndrome after CAR-T or bispecific therapy","Cancer cachexia","Multiple myeloma microenvironment"],"targetClass":"other","prevalence":[{"cancerId":"multiple-myeloma","pct":35,"measure":"Detectable serum IL-6 by bioassay in 85 patients with overt multiple myeloma","source":"https://doi.org/10.1172/JCI114392","note":"Bataille 1989 (J Clin Invest); 37% at diagnosis, 13% in stable disease, 60% in fulminating disease, 100% of 11 plasma cell leukaemias and 3% of MGUS/smouldering myeloma"}]},{"id":"iqgap1","kind":"target","name":"IQGAP1","aka":["IQ motif containing GTPase activating protein 1","Ras GTPase-activating-like protein IQGAP1","p195","KIAA0051","SAR1","HUMORFA01"],"tldr":"IQGAP1 (Ras GTPase-activating-like protein IQGAP1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. Recruited to the cell cortex by interaction with ILK which allows it to cooperate with its effector DIAPH1 to locally stabilise microtubules and allow stable insertion of caveolae into the plasma membrane. Binds to activated CDC42 but does not stimulate its GTPase activity.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes affected pathway 0.97, literature 0.98, genetic association 0.32, somatic mutation 0.00, animal model 0.58).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6110","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6110"},{"label":"UniProt P46940","url":"https://www.uniprot.org/uniprotkb/P46940/entry"},{"label":"NCBI Gene 8826","url":"https://www.ncbi.nlm.nih.gov/gene/8826"},{"label":"Ensembl ENSG00000140575","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140575"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IQGAP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6110","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6110","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P46940","url":"https://www.uniprot.org/uniprotkb/P46940/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140575","url":"https://platform.opentargets.org/target/ENSG00000140575/associations","note":"association with cancer (MONDO_0004992) 0.67;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6110","ensembl":"ENSG00000140575","uniprot":"P46940","entrez":"8826","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Weissbach et al, J. Biol. Chem, 1994, \"Identification of a human rasGAP-related protein containing calmodulin-binding motifs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8051149/","biology":"Plays a crucial role in regulating the dynamics and assembly of the actin cytoskeleton. Recruited to the cell cortex by interaction with ILK which allows it to cooperate with its effector DIAPH1 to locally stabilise microtubules and allow stable insertion of caveolae into the plasma membrane. Binds to activated CDC42 but does not stimulate its GTPase activity. Associates with calmodulin. May promote neurite outgrowth. May play a possible role in cell cycle regulation by contributing to cell cycle progression after DNA replication arrest. Location: Cell membrane; Nucleus; Cytoplasm; Cytoplasm, cell cortex (UniProt). Locus 15q26.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"irak1","kind":"target","name":"IRAK1","aka":["interleukin 1 receptor associated kinase 1","Interleukin-1 receptor-associated kinase 1","pelle"],"tldr":"IRAK1 (Interleukin-1 receptor-associated kinase 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a tumour suppressor, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms and Multiple myeloma.","summary":"Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signalling pathways. Is rapidly recruited by MYD88 to the receptor-signalling complex upon TLR activation.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.61, clinical 0.91). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Plasma Cell Myeloma. In OnCo, 1 product record names it (Pacritinib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6112","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6112"},{"label":"UniProt P51617","url":"https://www.uniprot.org/uniprotkb/P51617/entry"},{"label":"NCBI Gene 3654","url":"https://www.ncbi.nlm.nih.gov/gene/3654"},{"label":"Ensembl ENSG00000184216","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184216"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":["pacritinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.91; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IRAK1","role":["drug-target","tumour-suppressor"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6112","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6112","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51617","url":"https://www.uniprot.org/uniprotkb/P51617/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184216","url":"https://platform.opentargets.org/target/ENSG00000184216/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: myeloproliferative neoplasm 0.58 (GraphQL API, CC0)"},{"label":"IntOGen IRAK1","url":"https://www.intogen.org/search?gene=IRAK1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Pacritinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA IRAK1: RNA low tissue specificity; high antibody staining in 10 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Multiple myeloma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas IRAK1 tissue","url":"https://www.proteinatlas.org/ENSG00000184216-IRAK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184216 associations","url":"https://platform.opentargets.org/target/ENSG00000184216/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6112","ensembl":"ENSG00000184216","uniprot":"P51617","entrez":"3654","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cao et al, Science, 1996, \"IRAK: a kinase associated with the interleukin-1 receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8599092/","biology":"Serine/threonine-protein kinase that plays a critical role in initiating innate immune response against foreign pathogens. Involved in Toll-like receptor (TLR) and IL-1R signalling pathways. Is rapidly recruited by MYD88 to the receptor-signalling complex upon TLR activation. Association with MYD88 leads to IRAK1 phosphorylation by IRAK4 and subsequent autophosphorylation and kinase activation. Phosphorylates E3 ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) to promote pellino-mediated polyubiquitination of IRAK1. Then, the ubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinated IRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex and the NEMO-IKKA-IKKB complex. Location: Cytoplasm; Nucleus; Lipid droplet (UniProt). Locus Xq28 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.58 with myeloproliferative neoplasm (MONDO_0020076)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"kinase","prevalence":[]},{"id":"irf1","kind":"target","name":"IRF1","aka":["interferon regulatory factor 1","Interferon regulatory factor 1"],"tldr":"IRF1 (Interferon regulatory factor 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer and Multiple myeloma.","summary":"Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. Regulates transcription of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during haematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.62, somatic mutation 0.60, genetic literature 0.61). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6116","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6116"},{"label":"UniProt P10914","url":"https://www.uniprot.org/uniprotkb/P10914/entry"},{"label":"NCBI Gene 3659","url":"https://www.ncbi.nlm.nih.gov/gene/3659"},{"label":"Ensembl ENSG00000125347","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125347"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["gastric","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IRF1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6116","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6116","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10914","url":"https://www.uniprot.org/uniprotkb/P10914/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000125347","url":"https://platform.opentargets.org/target/ENSG00000125347/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: gastric cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen IRF1","url":"https://www.intogen.org/search?gene=IRF1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6116","ensembl":"ENSG00000125347","uniprot":"P10914","entrez":"3659","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miyamoto et al, Cell, 1988, \"Regulated expression of a gene encoding a nuclear factor, IRF-1, that specifically binds to IFN-beta gene regulatory elements\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3409321/","biology":"Transcriptional regulator which displays a remarkable functional diversity in the regulation of cellular responses. Regulates transcription of IFN and IFN-inducible genes, host response to viral and bacterial infections, regulation of many genes expressed during haematopoiesis, inflammation, immune responses and cell proliferation and differentiation, regulation of the cell cycle and induction of growth arrest and programmed cell death following DNA damage. Stimulates both innate and acquired immune responses through the activation of specific target genes and can act as a transcriptional activator and repressor regulating target genes by binding to an interferon-stimulated response element (ISRE) in their promoters. Has an essential role in IFNG-dependent immunity to mycobacteria. Competes with the transcriptional repressor ZBED2 for binding to a common consensus sequence in gene promoters. Its target genes for transcriptional activation activity include: genes involved in anti-viral response, such as IFN-alpha/beta, RIGI, TNFSF10/TRAIL, ZBP1, OAS1/2, PIAS1/GBP, EIF2AK2/PKR and RSAD2/viperin; antibacterial response, such as GBP2, GBP5 and NOS2/INOS; anti-proliferative response, such as p53/TP53, LOX and CDKN1A; apoptosis, such as BBC3/PUMA, CASP1, CASP7 and CASP8; immune response, such as IL7, IL12A/B and IL15, PTGS2/COX2 and CYBB; DNA damage responses and DNA repair, such as POLQ/POLH; MHC class I expression, such as TAP1, PSMB9/LMP2, PSME1/PA28A, PSME2/PA28B and B2M and MHC class II expression, such as CIITA; metabolic enzymes, such as ACOD1/IRG1. Location: Nucleus; Cytoplasm (UniProt). Locus 5q31.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.64 with gastric cancer (MONDO_0001056)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"irf4","kind":"target","name":"IRF4","aka":["MUM1","LSIRF","interferon regulatory factor 4"],"tldr":"IRF4 is a master transcription factor of plasma cells and a protein myeloma cells cannot do without. Lenalidomide and its successors lower IRF4 by destroying the two factors, Ikaros and Aiolos, that keep it switched on.","summary":"IRF4 (chromosome 6p25.3) is a transcriptional activator that binds the interferon-stimulated response element of the MHC class I promoter and, with PU.1, the immunoglobulin lambda light-chain enhancer; it acts in lymphoid-specific signalling and, in complex with the BATF-JUNB heterodimer at AICE elements, in CD8 dendritic-cell differentiation (UniProt Q15306). In OnCo it is the downstream node of the immunomodulatory drugs: lenalidomide and golcadomide degrade Ikaros and Aiolos through cereblon, IRF4 and MYC fall, and the myeloma cell dies (lenalidomide mechanism steps).","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:6119","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6119"},{"label":"UniProt Q15306","url":"https://www.uniprot.org/uniprotkb/Q15306/entry"},{"label":"NCBI Gene 3662","url":"https://www.ncbi.nlm.nih.gov/gene/3662"},{"label":"Kataoka et al., Nat Genet 2015: integrated molecular analysis of 426 adult T-cell leukaemia/lymphoma cases","url":"https://doi.org/10.1038/ng.3415"}],"tags":["wave5-target"],"related":["lenalidomide","golcadomide","ikzf1","ikzf3","myc"],"cancers":["multiple-myeloma","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":["celmods"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["transcription-addiction","myc","oncogenic-viruses","inflammation-nfkb"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted.","Lymphoma, HTLV-1, Tax and HBZ: Human T-lymphotropic virus 1 integrates into the genome of a CD4 T cell and expresses Tax, which switches on NF-kB and interferes with the DNA-damage response and the spindle checkpoint, and HBZ, encoded on the opposite strand, which is retained when Tax expression is switched off under immune pressure. The host genome then acquires the rest of the lesions, and they are not random: the alterations found across 426 cases overlap significantly with the proteins Tax itself binds, and are concentrated in T-cell receptor and NF-kB signalling, T-cell trafficking and immune surveillance, with activating mutations in PLCG1, PRKCB, CARD11, VAV1, IRF4, FYN, CCR4 and CCR7, CTLA4-CD28 and ICOS-CD28 fusions, and intragenic deletions of IKZF2, CARD11 and TP73 (Kataoka 2015). Frequency: Across 426 adult T-cell leukaemia/lymphoma cases analysed by whole-genome, exome, transcriptome and targeted sequencing with copy-number and methylation arrays (Kataoka 2015). Most people infected with HTLV-1 never develop the disease, and the latency between infection, usually in infancy through breastfeeding, and the leukaemia is measured in decades. What it changes about treatment: The CCR4 finding is the practical one: CCR4 is both frequently expressed and frequently mutated, and mogamulizumab is used in this disease. The virus itself is not a drug target, and antiretroviral treatment does not cure the leukaemia."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"IRF4","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:6119","ensembl":"ENSG00000137265","uniprot":"Q15306","entrez":"3662","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Grossman et al, Genomics, 1996, \"Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8921401/","biology":"IRF4 is not bound by any corpus drug; it is lowered as a consequence of Ikaros and Aiolos degradation, which is why it sits at the end of the immunomodulatory drug mechanism alongside MYC.","whereFound":["Multiple myeloma (dependency; lowered by immunomodulatory drugs)","Diffuse large B-cell lymphoma (golcadomide trials)"],"targetClass":"transcription","prevalence":[]},{"id":"irf5","kind":"target","name":"IRF5","aka":["interferon regulatory factor 5","Interferon regulatory factor 5","IRF-5"],"tldr":"IRF5 (Interferon regulatory factor 5) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transcription factor that plays a critical role in innate immunity by activating expression of type I interferon (IFN) IFNA and INFB and inflammatory cytokines downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction downstream of the TLR-activated, MyD88-dependent pathway.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6120","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6120"},{"label":"UniProt Q13568","url":"https://www.uniprot.org/uniprotkb/Q13568/entry"},{"label":"NCBI Gene 3663","url":"https://www.ncbi.nlm.nih.gov/gene/3663"},{"label":"Ensembl ENSG00000128604","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128604"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IRF5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6120","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6120","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13568","url":"https://www.uniprot.org/uniprotkb/Q13568/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000128604","url":"https://platform.opentargets.org/target/ENSG00000128604/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6120","ensembl":"ENSG00000128604","uniprot":"Q13568","entrez":"3663","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Grossman et al, 1996.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q13568/entry","biology":"Transcription factor that plays a critical role in innate immunity by activating expression of type I interferon (IFN) IFNA and INFB and inflammatory cytokines downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9. Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters. Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction downstream of the TLR-activated, MyD88-dependent pathway. Key transcription factor regulating the IFN response during SARS-CoV-2 infection. Location: Cytoplasm; Nucleus (UniProt). Locus 7q32.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"irf8","kind":"target","name":"IRF8","aka":["interferon regulatory factor 8","Interferon regulatory factor 8","IRF-8","ICSBP","ICSBP1"],"tldr":"IRF8 (Interferon regulatory factor 8) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma and Diffuse large B-cell lymphoma.","summary":"Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Can both act as a transcriptional activator or repressor. Plays a negative regulatory role in cells of the immune system.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5358","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5358"},{"label":"UniProt Q02556","url":"https://www.uniprot.org/uniprotkb/Q02556/entry"},{"label":"NCBI Gene 3394","url":"https://www.ncbi.nlm.nih.gov/gene/3394"},{"label":"Ensembl ENSG00000140968","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140968"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IRF8","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5358","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5358","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02556","url":"https://www.uniprot.org/uniprotkb/Q02556/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene IRF8","url":"https://civicdb.org/features/2836","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000140968","url":"https://platform.opentargets.org/target/ENSG00000140968/associations","note":"per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.51, leukaemia 0.56 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA IRF8: RNA tissue enhanced (lymphoid tissue 196 nTPM); blood lineage lineage enriched (dendritic cells 2,405 nTPM); high antibody staining in 4 normal tissues; highest cancer staining glioma (1 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (B-cell chronic lymphocytic leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas IRF8 tissue","url":"https://www.proteinatlas.org/ENSG00000140968-IRF8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000140968 associations","url":"https://platform.opentargets.org/target/ENSG00000140968/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5358","ensembl":"ENSG00000140968","uniprot":"Q02556","entrez":"3394","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Weisz et al, J. Biol. Chem, 1992, \"Human interferon consensus sequence binding protein is a negative regulator of enhancer elements common to interferon-inducible genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1460054/","biology":"Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Can both act as a transcriptional activator or repressor. Plays a negative regulatory role in cells of the immune system. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes. Required for the development of plasmacytoid dendritic cells (pDCs), which produce most of the type I IFN in response to viral infection. Positively regulates macroautophagy in dendritic cells. Location: Nucleus; Cytoplasm (UniProt). Locus 16q24.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.56 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"irs1","kind":"target","name":"IRS1","aka":["insulin receptor substrate 1","Insulin receptor substrate 1","HIRS-1"],"tldr":"IRS1 (Insulin receptor substrate 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Signalling adapter protein that participates in the signal transduction from two prominent receptor tyrosine kinases, insulin receptor/INSR and insulin-like growth factor I receptor/IGF1R. Plays therefore an important role in development, growth, glucose homeostasis as well as lipid metabolism. Upon phosphorylation by the insulin receptor, functions as a signalling scaffold that propagates insulin action through binding to SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, NCK1, NCK2, GRB2 or SHP2.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.83, animal model 0.51, genetic association 0.16).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6125","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6125"},{"label":"UniProt P35568","url":"https://www.uniprot.org/uniprotkb/P35568/entry"},{"label":"NCBI Gene 3667","url":"https://www.ncbi.nlm.nih.gov/gene/3667"},{"label":"Ensembl ENSG00000169047","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169047"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IRS1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6125","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6125","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35568","url":"https://www.uniprot.org/uniprotkb/P35568/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000169047","url":"https://platform.opentargets.org/target/ENSG00000169047/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6125","ensembl":"ENSG00000169047","uniprot":"P35568","entrez":"3667","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nishiyama et al, Biochem. Biophys. Res. Commun, 1992, \"Cloning and increased expression of an insulin receptor substrate-1-like gene in human hepatocellular carcinoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1311924/","biology":"Signalling adapter protein that participates in the signal transduction from two prominent receptor tyrosine kinases, insulin receptor/INSR and insulin-like growth factor I receptor/IGF1R. Plays therefore an important role in development, growth, glucose homeostasis as well as lipid metabolism. Upon phosphorylation by the insulin receptor, functions as a signalling scaffold that propagates insulin action through binding to SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, NCK1, NCK2, GRB2 or SHP2. Recruitment of GRB2 leads to the activation of the guanine nucleotide exchange factor SOS1 which in turn triggers the Ras/Raf/MEK/MAPK signalling cascade. Activation of the PI3K/AKT pathway is responsible for most of insulin metabolic effects in the cell, and the Ras/Raf/MEK/MAPK is involved in the regulation of gene expression and in cooperation with the PI3K pathway regulates cell growth and differentiation. Acts a positive regulator of the Wnt/beta-catenin signalling pathway through suppression of DVL2 autophagy-mediated degradation leading to cell proliferation. Location: Cytoplasm; Nucleus (UniProt). Locus 2q36.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"irs2","kind":"target","name":"IRS2","aka":["insulin receptor substrate 2","Insulin receptor substrate 2"],"tldr":"IRS2 (Insulin receptor substrate 2) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Prostate cancer.","summary":"Signalling adapter protein that participates in the signal transduction from two prominent receptor tyrosine kinases, insulin receptor/INSR and insulin-like growth factor I receptor/IGF1R. Plays therefore an important role in development, growth, glucose homeostasis as well as lipid metabolism. Upon phosphorylation by the insulin receptor, functions as a signalling scaffold that propagates insulin action through binding to SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, NCK1, NCK2, GRB2 or SHP2.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Capivasertib and Dual IGF-1R/InsR Inhibitor BMS-754807. Open Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.54, animal model 0.78, genetic association 0.58).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6126"},{"label":"UniProt Q9Y4H2","url":"https://www.uniprot.org/uniprotkb/Q9Y4H2/entry"},{"label":"NCBI Gene 8660","url":"https://www.ncbi.nlm.nih.gov/gene/8660"},{"label":"Ensembl ENSG00000185950","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185950"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IRS2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6126","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y4H2","url":"https://www.uniprot.org/uniprotkb/Q9Y4H2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene IRS2","url":"https://civicdb.org/features/6862","note":"2 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer, Prostate Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000185950","url":"https://platform.opentargets.org/target/ENSG00000185950/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA IRS2: RNA tissue enhanced (bone marrow 48 nTPM); blood lineage lineage enriched (granulocytes 3 nTPM); high antibody staining in 1 normal tissue. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas IRS2 tissue","url":"https://www.proteinatlas.org/ENSG00000185950-IRS2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185950 associations","url":"https://platform.opentargets.org/target/ENSG00000185950/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6126","ensembl":"ENSG00000185950","uniprot":"Q9Y4H2","entrez":"8660","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ogihara et al, J. Biol. Chem, 1997, \"14-3-3 protein binds to insulin receptor substrate-1, one of the binding sites of which is in the phosphotyrosine binding domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9312143/","biology":"Signalling adapter protein that participates in the signal transduction from two prominent receptor tyrosine kinases, insulin receptor/INSR and insulin-like growth factor I receptor/IGF1R. Plays therefore an important role in development, growth, glucose homeostasis as well as lipid metabolism. Upon phosphorylation by the insulin receptor, functions as a signalling scaffold that propagates insulin action through binding to SH2 domain-containing proteins including the p85 regulatory subunit of PI3K, NCK1, NCK2, GRB2 or SHP2. Recruitment of GRB2 leads to the activation of the guanine nucleotide exchange factor SOS1 which in turn triggers the Ras/Raf/MEK/MAPK signalling cascade. Activation of the PI3K/AKT pathway is responsible for most of insulin metabolic effects in the cell, and the Ras/Raf/MEK/MAPK is involved in the regulation of gene expression and in cooperation with the PI3K pathway regulates cell growth and differentiation. Acts a positive regulator of the Wnt/beta-catenin signalling pathway through suppression of DVL2 autophagy-mediated degradation leading to cell proliferation. Location: Cytoplasm, cytosol (UniProt). Locus 13q34 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"irs4","kind":"target","name":"IRS4","aka":["insulin receptor substrate 4","Insulin receptor substrate 4","PY160","IRS-4"],"tldr":"IRS4 (Insulin receptor substrate 4) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Pancreatic ductal adenocarcinoma, Colorectal cancer and 4 more.","summary":"Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signalling molecules containing SH2 domains. Involved in the IGF1R mitogenic signalling pathway. Promotes the AKT1 signalling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.93, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma, Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6128","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6128"},{"label":"UniProt O14654","url":"https://www.uniprot.org/uniprotkb/O14654/entry"},{"label":"NCBI Gene 8471","url":"https://www.ncbi.nlm.nih.gov/gene/8471"},{"label":"Ensembl ENSG00000133124","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000133124"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","pancreatic","colorectal","lung-cancer","skin-cancer","melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IRS4","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6128","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6128","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14654","url":"https://www.uniprot.org/uniprotkb/O14654/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000133124","url":"https://platform.opentargets.org/target/ENSG00000133124/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.50, colorectal cancer 0.53, melanoma 0.53, skin cancer 0.51, lung cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen IRS4","url":"https://www.intogen.org/search?gene=IRS4","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6128","ensembl":"ENSG00000133124","uniprot":"O14654","entrez":"8471","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lavan B.E. et al, J. Biol. Chem, 1997, \"A novel 160-kDa phosphotyrosine protein in insulin-treated embryonic kidney cells is a new member of the insulin receptor substrate family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9261155/","biology":"Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signalling molecules containing SH2 domains. Involved in the IGF1R mitogenic signalling pathway. Promotes the AKT1 signalling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in nonreceptor tyrosine kinase signalling in myoblasts. Plays a pivotal role in the proliferation/differentiation of hepatoblastoma cell through EPHB2 activation upon IGF1 stimulation. Location: Cell membrane (UniProt). Locus Xq22.3 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.53 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"irx4","kind":"target","name":"IRX4","aka":["iroquois homeobox 4","Iroquois-class homeodomain protein IRX-4"],"tldr":"IRX4 (Iroquois-class homeodomain protein IRX-4) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Likely to be an important mediator of ventricular differentiation during cardiac development.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.46, genetic association 0.84).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6129","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6129"},{"label":"UniProt P78413","url":"https://www.uniprot.org/uniprotkb/P78413/entry"},{"label":"NCBI Gene 50805","url":"https://www.ncbi.nlm.nih.gov/gene/50805"},{"label":"Ensembl ENSG00000113430","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113430"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IRX4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6129","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6129","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78413","url":"https://www.uniprot.org/uniprotkb/P78413/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000113430","url":"https://platform.opentargets.org/target/ENSG00000113430/associations","note":"association with cancer (MONDO_0004992) 0.52; per-cancer scores at or above 0.5: prostate cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6129","ensembl":"ENSG00000113430","uniprot":"P78413","entrez":"50805","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lewis M.T. et al, 1997, \"IRX: a new family of human homeobox genes from the breast\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P78413/entry","biology":"Likely to be an important mediator of ventricular differentiation during cardiac development. Location: Nucleus (UniProt). Locus 5p15.33 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"itga2b","kind":"target","name":"ITGA2B","aka":["integrin subunit alpha 2b","Integrin alpha-IIb","CD41B","CD41","PPP1R93","GPIIb","GP2B"],"tldr":"ITGA2B (Integrin alpha-IIb) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognises the sequence R-G-D in a wide array of ligands. It recognises the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.81, affected pathway 0.97, animal model 0.55, genetic association 0.07).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6138","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6138"},{"label":"UniProt P08514","url":"https://www.uniprot.org/uniprotkb/P08514/entry"},{"label":"NCBI Gene 3674","url":"https://www.ncbi.nlm.nih.gov/gene/3674"},{"label":"Ensembl ENSG00000005961","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000005961"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ITGA2B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6138","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6138","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08514","url":"https://www.uniprot.org/uniprotkb/P08514/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000005961","url":"https://platform.opentargets.org/target/ENSG00000005961/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6138","ensembl":"ENSG00000005961","uniprot":"P08514","entrez":"3674","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Charo I.F. et al, Proc. Natl. Acad. Sci. U.S.A, 1986, \"Platelet glycoproteins IIb and IIIa: evidence for a family of immunologically and structurally related glycoproteins in mammalian cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3534886/","biology":"Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. It recognises the sequence R-G-D in a wide array of ligands. It recognises the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial cell surface. Integrin ITGA2B:ITGB3 is also the receptor of erythrocyte-specific ICAM4 ligand involved in heterotypic cell-cell adhesion between erythrocytes and activated platelets. Location: Cell membrane (UniProt). Locus 17q21.31 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"itga6","kind":"target","name":"ITGA6","aka":["integrin subunit alpha 6","Integrin alpha-6","CD49f","VLA-6","ITGA6A","ITGA6B"],"tldr":"ITGA6 (Integrin alpha-6) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion. Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6142","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6142"},{"label":"UniProt P23229","url":"https://www.uniprot.org/uniprotkb/P23229/entry"},{"label":"NCBI Gene 3655","url":"https://www.ncbi.nlm.nih.gov/gene/3655"},{"label":"Ensembl ENSG00000091409","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000091409"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ITGA6","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6142","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6142","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23229","url":"https://www.uniprot.org/uniprotkb/P23229/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000091409","url":"https://platform.opentargets.org/target/ENSG00000091409/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: prostate cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6142","ensembl":"ENSG00000091409","uniprot":"P23229","entrez":"3655","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hemler M.E. et al, J. Biol. Chem, 1989, \"Association of the VLA alpha 6 subunit with a novel protein. A possible alternative to the common VLA beta 1 subunit on certain cell lines\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2649503/","biology":"Integrin alpha-6/beta-1 (ITGA6:ITGB1) is a receptor for laminin on platelets. Integrin alpha-6/beta-1 (ITGA6:ITGB1) is present in oocytes and is involved in sperm-egg fusion. Integrin alpha-6/beta-4 (ITGA6:ITGB4) is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signalling. ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signalling. ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signalling. Location: Cell membrane (UniProt). Locus 2q31.1 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"itgav","kind":"target","name":"ITGAV","aka":["integrin subunit alpha V","Integrin alpha-V","CD51","MSK8"],"tldr":"ITGAV (Integrin alpha-V) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognise the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signalling.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6150","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6150"},{"label":"UniProt P06756","url":"https://www.uniprot.org/uniprotkb/P06756/entry"},{"label":"NCBI Gene 3685","url":"https://www.ncbi.nlm.nih.gov/gene/3685"},{"label":"Ensembl ENSG00000138448","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138448"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ITGAV","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6150","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6150","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P06756","url":"https://www.uniprot.org/uniprotkb/P06756/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ITGAV","url":"https://www.intogen.org/search?gene=ITGAV","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6150","ensembl":"ENSG00000138448","uniprot":"P06756","entrez":"3685","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Suzuki et al, Proc. Natl. Acad. Sci. U.S.A, 1986, \"cDNA and amino acid sequences of the cell adhesion protein receptor recognizing vitronectin reveal a transmembrane domain and homologies with other adhesion protein receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2430295/","biology":"The alpha-V (ITGAV) integrins are receptors for vitronectin, cytotactin, fibronectin, fibrinogen, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin and vWF. They recognise the sequence R-G-D in a wide array of ligands. ITGAV:ITGB3 binds to fractalkine (CX3CL1) and may act as its coreceptor in CX3CR1-dependent fractalkine signalling. ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signalling. ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signalling. ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signalling. Location: Cell membrane; Cell junction, focal adhesion (UniProt). Locus 2q32.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"itgb3","kind":"target","name":"ITGB3","aka":["integrin subunit beta 3","Integrin beta-3","CD61","GPIIIa","GP3A"],"tldr":"ITGB3 (Integrin beta-3) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor (VWF). Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognise the sequence R-G-D in a wide array of ligands.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes clinical 0.50, affected pathway 0.97, literature 0.97, genetic association 0.00, animal model 0.52).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6156","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6156"},{"label":"UniProt P05106","url":"https://www.uniprot.org/uniprotkb/P05106/entry"},{"label":"NCBI Gene 3690","url":"https://www.ncbi.nlm.nih.gov/gene/3690"},{"label":"Ensembl ENSG00000259207","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000259207"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.50. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ITGB3","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6156","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6156","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P05106","url":"https://www.uniprot.org/uniprotkb/P05106/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000259207","url":"https://platform.opentargets.org/target/ENSG00000259207/associations","note":"association with cancer (MONDO_0004992) 0.68;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ITGB3: RNA tissue enhanced (blood vessel 38 nTPM, thyroid gland 53 nTPM); blood lineage lineage enriched (granulocytes 6 nTPM); high antibody staining in 1 normal tissue; highest cancer staining renal cancer (1 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ITGB3 tissue","url":"https://www.proteinatlas.org/ENSG00000259207-ITGB3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000259207 associations","url":"https://platform.opentargets.org/target/ENSG00000259207/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6156","ensembl":"ENSG00000259207","uniprot":"P05106","entrez":"3690","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fitzgerald L.A. et al, J. Biol. Chem, 1987, \"Protein sequence of endothelial glycoprotein IIIa derived from a cDNA clone. Identity with platelet glycoprotein IIIa and similarity to 'integrin'\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3494014/","biology":"Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor (VWF). Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha-V/beta-3 recognise the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognises the sequence H-H-L-G-G-G-A-K-Q-A-G-D-V in fibrinogen gamma chain. Following activation integrin alpha-IIb/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial surface. Location: Cell membrane; Cell projection, lamellipodium membrane; Cell junction, focal adhesion; Postsynaptic cell membrane (UniProt). Locus 17q21.32 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"itk","kind":"target","name":"ITK","aka":["IL2 inducible T cell kinase","Tyrosine-protein kinase ITK/TSK","PSCTK2"],"tldr":"ITK (Tyrosine-protein kinase ITK/TSK) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Renal cell carcinoma and Sarcomas.","summary":"Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes clinical 0.97, literature 0.90, genetic association 0.00, somatic mutation 0.50, animal model 0.34). In OnCo, 3 product records name it (Ibrutinib, Acalabrutinib and Soquelitinib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6171","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6171"},{"label":"UniProt Q08881","url":"https://www.uniprot.org/uniprotkb/Q08881/entry"},{"label":"NCBI Gene 3702","url":"https://www.ncbi.nlm.nih.gov/gene/3702"},{"label":"Ensembl ENSG00000113263","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113263"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["rcc","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":["acalabrutinib","ibrutinib","soquelitinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ITK","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6171","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6171","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q08881","url":"https://www.uniprot.org/uniprotkb/Q08881/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000113263","url":"https://platform.opentargets.org/target/ENSG00000113263/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: renal cell carcinoma 0.63, sarcoma 0.62 (GraphQL API, CC0)"}],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal NK-cells and T-cells and lymphoid tissue cells: HPA finds the gene tissue enriched in lymphoid tissue, and the 3 medicines aimed at it (Acalabrutinib, Ibrutinib, Soquelitinib) act on the wild-type protein, so the normal lineage is hit too. HPA ITK: RNA tissue enriched (lymphoid tissue 54 nTPM); blood lineage group enriched (NK-cells 29 nTPM, T-cells 78 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Sarcomas (soft tissue, bone, GIST)); approvals of single-target medicines aimed at it also list Leukaemia, Lymphoma, not counted; Open Targets associates it with 1 specific cancer type at or above 0.5 (renal cell carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ITK tissue","url":"https://www.proteinatlas.org/ENSG00000113263-ITK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas ITK pathology","url":"https://www.proteinatlas.org/ENSG00000113263-ITK/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113263 associations","url":"https://platform.opentargets.org/target/ENSG00000113263/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6171","ensembl":"ENSG00000113263","uniprot":"Q08881","entrez":"3702","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tanaka et al, FEBS Lett, 1993, \"A novel human tyrosine kinase gene inducible in T cells by interleukin 2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8504851/","biology":"Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the activation of this lipase and subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. Location: Cytoplasm; Nucleus (UniProt). Locus 5q33.3 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.63 with renal cell carcinoma (MONDO_0005086)","Sarcomas: Open Targets association 0.62 with sarcoma (MONDO_0005089)"],"targetClass":"kinase","prevalence":[]},{"id":"itpkb","kind":"target","name":"ITPKB","aka":["inositol-trisphosphate 3-kinase B","Inositol-trisphosphate 3-kinase B","IP3KB","IP3-3KB"],"tldr":"ITPKB (Inositol-trisphosphate 3-kinase B) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Catalyses the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6179","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6179"},{"label":"UniProt P27987","url":"https://www.uniprot.org/uniprotkb/P27987/entry"},{"label":"NCBI Gene 3707","url":"https://www.ncbi.nlm.nih.gov/gene/3707"},{"label":"Ensembl ENSG00000143772","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143772"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ITPKB","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6179","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6179","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P27987","url":"https://www.uniprot.org/uniprotkb/P27987/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ITPKB","url":"https://civicdb.org/features/3083","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ITPKB: RNA tissue enhanced (brain 99 nTPM, choroid plexus 90 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ITPKB tissue","url":"https://www.proteinatlas.org/ENSG00000143772-ITPKB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143772 associations","url":"https://platform.opentargets.org/target/ENSG00000143772/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6179","ensembl":"ENSG00000143772","uniprot":"P27987","entrez":"3707","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takazawa et al, Biochem. J, 1991, \"Molecular cloning and expression of a new putative inositol 1,4,5-trisphosphate 3-kinase isoenzyme\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1654894/","biology":"Catalyses the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis. Location: Cytoplasm, cytoskeleton; Cytoplasm; Endoplasmic reticulum (UniProt). Locus 1q42.12 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"itpr1","kind":"target","name":"ITPR1","aka":["inositol 1,4,5-trisphosphate receptor type 1","Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1","Insp3r1","IP3R1","PPP1R94","SCA15","SCA16","SCA29"],"tldr":"ITPR1 (Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER). Undergoes conformational changes upon ligand binding, suggesting structural flexibility that allows the channel to switch from a closed state, capable of interacting with its ligands such as 1,4,5-trisphosphate and calcium, to an open state, capable of transferring calcium ions across the ER membrane. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CAMK2 complex.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.94, animal model 0.58, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6180","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6180"},{"label":"UniProt Q14643","url":"https://www.uniprot.org/uniprotkb/Q14643/entry"},{"label":"NCBI Gene 3708","url":"https://www.ncbi.nlm.nih.gov/gene/3708"},{"label":"Ensembl ENSG00000150995","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000150995"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ITPR1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6180","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6180","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14643","url":"https://www.uniprot.org/uniprotkb/Q14643/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000150995","url":"https://platform.opentargets.org/target/ENSG00000150995/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6180","ensembl":"ENSG00000150995","uniprot":"Q14643","entrez":"3708","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamada et al, Biochem. J, 1994, \"Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: structure, function, regulation of expression and chromosomal localization\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7945203/","biology":"Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER). Undergoes conformational changes upon ligand binding, suggesting structural flexibility that allows the channel to switch from a closed state, capable of interacting with its ligands such as 1,4,5-trisphosphate and calcium, to an open state, capable of transferring calcium ions across the ER membrane. Cytoplasmic calcium released from the ER triggers apoptosis by the activation of CAMK2 complex. Involved in the regulation of epithelial secretion of electrolytes and fluid through the interaction with AHCYL1. Part of a complex composed of HSPA9, ITPR1 and VDAC1 that regulates mitochondrial calcium-dependent apoptosis by facilitating calcium transport from the ER lumen to the mitochondria intermembrane space thus providing calcium for the downstream calcium channel MCU that directly releases it into mitochondria matrix. Regulates fertilisation and egg activation by tuning the frequency and amplitude of calcium oscillations. Location: Endoplasmic reticulum membrane; Cytoplasmic vesicle, secretory vesicle membrane; Cytoplasm, perinuclear region (UniProt). Locus 3p26.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"jag1","kind":"target","name":"JAG1","aka":["jagged canonical Notch ligand 1","HJ1","CD339","JAGL1"],"tldr":"JAG1 (jagged canonical Notch ligand 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Ligand for multiple Notch receptors and involved in the mediation of Notch signalling. May be involved in cell-fate decisions during haematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.78, animal model 0.59, genetic association 0.54).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6188","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6188"},{"label":"UniProt P78504","url":"https://www.uniprot.org/uniprotkb/P78504/entry"},{"label":"NCBI Gene 182","url":"https://www.ncbi.nlm.nih.gov/gene/182"},{"label":"Ensembl ENSG00000101384","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101384"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"JAG1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6188","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6188","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78504","url":"https://www.uniprot.org/uniprotkb/P78504/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000101384","url":"https://platform.opentargets.org/target/ENSG00000101384/associations","note":"association with cancer (MONDO_0004992) 0.68;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6188","ensembl":"ENSG00000101384","uniprot":"P78504","entrez":"182","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zimrin A.B. et al, J. Biol. Chem, 1996, \"An antisense oligonucleotide to the notch ligand Jagged enhances fibroblast growth factor-induced angiogenesis in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8955070/","biology":"Ligand for multiple Notch receptors and involved in the mediation of Notch signalling. May be involved in cell-fate decisions during haematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation. Enhances fibroblast growth factor-induced angiogenesis (in vitro). Location: Membrane; Cell membrane (UniProt). Locus 20p12.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"jag2","kind":"target","name":"JAG2","aka":["jagged canonical Notch ligand 2"],"tldr":"JAG2 (jagged canonical Notch ligand 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Putative Notch ligand involved in the mediation of Notch signalling. Involved in limb development.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.91, animal model 0.53, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6189","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6189"},{"label":"UniProt Q9Y219","url":"https://www.uniprot.org/uniprotkb/Q9Y219/entry"},{"label":"NCBI Gene 3714","url":"https://www.ncbi.nlm.nih.gov/gene/3714"},{"label":"Ensembl ENSG00000184916","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184916"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"JAG2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6189","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6189","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y219","url":"https://www.uniprot.org/uniprotkb/Q9Y219/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184916","url":"https://platform.opentargets.org/target/ENSG00000184916/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6189","ensembl":"ENSG00000184916","uniprot":"Q9Y219","entrez":"3714","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Luo et al, Mol. Cell. Biol, 1997, \"Isolation and functional analysis of a cDNA for human Jagged2, a gene encoding a ligand for the Notch1 receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9315665/","biology":"Putative Notch ligand involved in the mediation of Notch signalling. Involved in limb development. Location: Membrane (UniProt). Locus 14q32.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"jak1","kind":"target","name":"JAK1","aka":["Janus kinase 1","JAK1A","JTK3"],"tldr":"JAK1 is one of the kinases that pass cytokine and interferon signals inside immune and blood cells. Ruxolitinib and momelotinib block JAK1 together with JAK2 to calm the inflammation of myelofibrosis; golidocitinib is the first JAK1-only inhibitor approved for a cancer, in peripheral T-cell lymphoma.","summary":"JAK1 (chromosome 1p31.3) is a non-receptor tyrosine kinase that phosphorylates the signal-transducing subunits of cytokine receptor complexes including IL2RB, IL10RA, IFNAR2, IL6ST, LIFR, OSMR and IL31RA; it is required for interferon alpha, beta and gamma signalling, where it phosphorylates IFNAR2 to create STAT docking sites, and it activates STATs directly or through partner JAK kinases (UniProt P23458). In OnCo, JAK1 is inhibited with JAK2 by ruxolitinib and momelotinib for spleen and symptom control in myelofibrosis, deliberately spared by pacritinib to limit myelosuppression, and selectively targeted by golidocitinib, approved in China in 2024 for relapsed peripheral T-cell lymphoma.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:6190","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6190"},{"label":"UniProt P23458","url":"https://www.uniprot.org/uniprotkb/P23458/entry"},{"label":"NCBI Gene 3716","url":"https://www.ncbi.nlm.nih.gov/gene/3716"},{"label":"Kucuk et al., Nat Commun 2015: activating STAT3 and STAT5B mutations in lymphomas derived from NK or gamma-delta T cells","url":"https://doi.org/10.1038/ncomms7025"},{"label":"Green et al., Blood 2010: selective 9p24.1 amplification and PD-1 ligand induction through JAK2 in Hodgkin lymphoma and mediastinal large B-cell lymphoma","url":"https://doi.org/10.1182/blood-2010-05-282780"}],"tags":["wave5-target"],"related":["pacritinib","jak2"],"cancers":["myeloproliferative-neoplasms","primary-myelofibrosis","peripheral-t-cell-lymphoma","non-hodgkin-lymphoma"],"sections":[],"technologies":["kinase-inhibitors"],"targets":[],"drugs":["golidocitinib","ruxolitinib","momelotinib"],"companies":[],"institutions":[],"pathways":["jak-stat","antigen-presentation-immunoediting"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted.","Lymphoma, JAK-STAT, in NK/T-cell lymphoma and in Hodgkin lymphoma: STAT3 and STAT5B mutations lock the transcription factor in its phosphorylated form. The STAT5B N642H substitution increases the binding affinity of the phosphotyrosine for the mutant histidine, so the phosphorylated protein persists and binds its target sites far more, and the growth advantage it gives can be partly reversed by a JAK1/2 inhibitor in the laboratory (Kucuk 2015). In Hodgkin lymphoma and primary mediastinal B-cell lymphoma the pathway is switched on from the other end, by amplification of JAK2 inside the 9p24.1 amplicon and by loss of the brakes SOCS1 and PTPN1. Frequency: Activating STAT3 and STAT5B mutations across 51 NK/T-cell lymphomas and 43 gamma-delta T-cell lymphomas, with STAT5B N642H particularly frequent in the gamma-delta group (Kucuk 2015). JAK2 sits in the 9p24.1 amplicon in Hodgkin lymphoma and mediastinal large B-cell lymphoma, and its amplification raises both protein and activity and specifically induces PD-1 ligand transcription (Green 2010). What it changes about treatment: Not through an approved drug. JAK inhibitors have been tested in both settings without becoming standard; the practical consequence of the Hodgkin and mediastinal finding is that it explains why checkpoint blockade works there."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"JAK1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 3 medicines aimed at it (Golidocitinib, Ruxolitinib, Momelotinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA JAK1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining liver cancer (2 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Lymphoma); Open Targets associates it with 3 specific cancer types at or above 0.5 (myelofibrosis, acquired polycythemia vera, primary myelofibrosis). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas JAK1 tissue","url":"https://www.proteinatlas.org/ENSG00000162434-JAK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162434 associations","url":"https://platform.opentargets.org/target/ENSG00000162434/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6190","ensembl":"ENSG00000162434","uniprot":"P23458","entrez":"3716","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wilks A.F. et al, Mol. Cell. Biol, 1991, \"Two novel protein-tyrosine kinases, each with a second phosphotransferase-related catalytic domain, define a new class of protein kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1848670/","biology":"The JAK-STAT pathway record notes that interferon-gamma signalling through JAK1/2 and STAT1 raises MHC and PD-L1 expression, and that JAK1/2 loss-of-function mutations cause acquired resistance to PD-1 blockade, so JAK1 is both a drug target in blood cancers and a resistance gene in immunotherapy.","whereFound":["Myelofibrosis and other myeloproliferative neoplasms (JAK1/2 inhibitors)","Peripheral T-cell lymphoma (golidocitinib)","Tumours with JAK1 loss (checkpoint resistance)"],"targetClass":"kinase","prevalence":[]},{"id":"jak2","kind":"target","name":"JAK2","aka":[],"tldr":"The signalling enzyme that tells marrow cells to make red cells and platelets; a single mutation (V617F) leaves it switched on in most myeloproliferative neoplasms.","summary":"Janus kinase 2 transduces signals from EPO, TPO and GM-CSF receptors via STAT5. JAK2 V617F (2005) is present in ~95% of polycythaemia vera and ~60% of essential thrombocythaemia and primary myelofibrosis; CALR and MPL mutations activate the same pathway. Approved JAK inhibitors (ruxolitinib, fedratinib, pacritinib, momelotinib) inhibit wild-type and mutant JAK2 alike, controlling symptoms and spleen without eliminating the clone. Mutant-selective (V617F pseudokinase) and type II inhibitors are in development. JAK2 fusions and mutations also occur in ALL (Ph-like) and Down-syndrome ALL.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/Janus_kinase_2","links":[{"label":"Kralovics 2005 (NEJM)","url":"https://doi.org/10.1056/NEJMoa051113"},{"label":"Kucuk et al., Nat Commun 2015: activating STAT3 and STAT5B mutations in lymphomas derived from NK or gamma-delta T cells","url":"https://doi.org/10.1038/ncomms7025"},{"label":"Green et al., Blood 2010: selective 9p24.1 amplification and PD-1 ligand induction through JAK2 in Hodgkin lymphoma and mediastinal large B-cell lymphoma","url":"https://doi.org/10.1182/blood-2010-05-282780"},{"label":"Roemer et al., J Clin Oncol 2016: PD-L1 and PD-L2 genetic alterations in 108 classical Hodgkin lymphomas","url":"https://doi.org/10.1200/JCO.2016.66.4482"},{"label":"Steidl et al., Nature 2011: CIITA is a recurrent fusion partner in primary mediastinal B-cell lymphoma and classical Hodgkin lymphoma","url":"https://doi.org/10.1038/nature09754"},{"label":"Ansell et al., N Engl J Med 2015: nivolumab in relapsed or refractory Hodgkin lymphoma (23 patients)","url":"https://doi.org/10.1056/NEJMoa1411087"}],"tags":["gap-fill"],"related":[],"cancers":["myeloproliferative-neoplasms","all-leukemia","non-hodgkin-lymphoma"],"sections":[],"technologies":["kinase-inhibitors"],"targets":[],"drugs":["ruxolitinib","fedratinib","pacritinib","momelotinib","ropeginterferon-alfa-2b"],"companies":[],"institutions":[],"pathways":["pi3k-akt-mtor","chemical-carcinogenesis-receptor-activation","pancreatic-cancer-signalling","jak-stat","pd1-checkpoint","antigen-presentation-immunoediting"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-kralovics-n-engl-j-med"],"journals":[],"dependsOn":[],"notes":["Lymphoma, JAK-STAT, in NK/T-cell lymphoma and in Hodgkin lymphoma: STAT3 and STAT5B mutations lock the transcription factor in its phosphorylated form. The STAT5B N642H substitution increases the binding affinity of the phosphotyrosine for the mutant histidine, so the phosphorylated protein persists and binds its target sites far more, and the growth advantage it gives can be partly reversed by a JAK1/2 inhibitor in the laboratory (Kucuk 2015). In Hodgkin lymphoma and primary mediastinal B-cell lymphoma the pathway is switched on from the other end, by amplification of JAK2 inside the 9p24.1 amplicon and by loss of the brakes SOCS1 and PTPN1. Frequency: Activating STAT3 and STAT5B mutations across 51 NK/T-cell lymphomas and 43 gamma-delta T-cell lymphomas, with STAT5B N642H particularly frequent in the gamma-delta group (Kucuk 2015). JAK2 sits in the 9p24.1 amplicon in Hodgkin lymphoma and mediastinal large B-cell lymphoma, and its amplification raises both protein and activity and specifically induces PD-1 ligand transcription (Green 2010). What it changes about treatment: Not through an approved drug. JAK inhibitors have been tested in both settings without becoming standard; the practical consequence of the Hodgkin and mediastinal finding is that it explains why checkpoint blockade works there.","Lymphoma, 9p24.1 amplification of CD274, PDCD1LG2 and JAK2: The amplicon contains the genes for both PD-1 ligands and the kinase that induces them, so a single copy-number event raises the ligands twice over, by gene dose and by JAK2-driven transcription (Green 2010). It is the clearest example in oncology of a tumour genetically buying its way out of T-cell attack. Alongside it, CIITA, the master transactivator of MHC class II, is broken by recurrent fusions, which lowers class II on the tumour cell and, in the same rearrangements, places PD-L1 and PD-L2 under new promoters. Frequency: In 108 newly diagnosed classical Hodgkin lymphomas evaluated by fluorescence in situ hybridisation, 97% had concordant alterations of both loci: polysomy in 5% (5 of 108), copy gain in 56% (61 of 108) and amplification in 36% (39 of 108), and higher-level gain predicted shorter progression-free survival (Roemer 2016). Genomic CIITA breaks in 38% of primary mediastinal B-cell lymphomas and 15% of classical Hodgkin lymphomas across 263 B-cell lymphomas (Steidl 2011). What it changes about treatment: Yes, and it is the reason for the sharpest contrast in lymphoma immunotherapy. PD-1 blockade produced an objective response in 20 of 23 heavily pre-treated Hodgkin patients, 87%, in the first study, in a disease where most had already failed both transplant and brentuximab vedotin (Ansell 2015); in B-cell non-Hodgkin lymphoma outside the mediastinal group, single-agent checkpoint blockade does very little. Nothing is tested before a Hodgkin patient is given a checkpoint inhibitor, because the alteration is nearly universal."],"symbol":"JAK2","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 6 medicines aimed at it (Ruxolitinib, Fedratinib, Pacritinib and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA JAK2: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 133 nTPM); high antibody staining in 5 normal tissues; highest cancer staining lymphoma (9 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia); Open Targets associates it with 6 specific cancer types at or above 0.5 (acquired polycythemia vera, primary myelofibrosis, myelofibrosis, myeloproliferative disorder, acute myeloid leukemia, essential thrombocythemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas JAK2 tissue","url":"https://www.proteinatlas.org/ENSG00000096968-JAK2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000096968 associations","url":"https://platform.opentargets.org/target/ENSG00000096968/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6192","ensembl":"ENSG00000096968","uniprot":"O60674","entrez":"3717","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Peeters et al, Blood, 1997, \"Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9326218/","biology":"JAK2 is a non-receptor tyrosine kinase with a pseudokinase (JH2) domain that normally restrains the kinase (JH1); V617F in JH2 relieves autoinhibition, causing cytokine-independent STAT5/MAPK/PI3K signalling and erythroid/megakaryocytic expansion.","whereFound":["Polycythaemia vera (~95% V617F, ~3% exon 12)","Essential thrombocythaemia and primary myelofibrosis (~55-65%)","Ph-like B-ALL (JAK2 fusions, ~7%)","Down syndrome ALL (JAK2 R683)"],"targetClass":"kinase","prevalence":[{"cancerId":"myeloproliferative-neoplasms","pct":"60-95","measure":"JAK2 V617F by subtype","source":"https://doi.org/10.1056/NEJMoa051113"}]},{"id":"jak3","kind":"target","name":"JAK3","aka":["Janus kinase 3","Tyrosine-protein kinase JAK3","L-JAK","JAK3_HUMAN","JAK-3"],"tldr":"JAK3 (Tyrosine-protein kinase JAK3) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms, Leukaemia, Non-Hodgkin lymphoma and 5 more.","summary":"Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signalling events in both innate and adaptive immunity and plays a crucial role in haematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 8 variants, naming Atezolizumab and Tofacitinib. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes clinical 0.96, affected pathway 0.61, literature 0.95, genetic association 0.18, somatic mutation 0.97, animal model 0.53). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Lymphoblastic Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6193","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6193"},{"label":"UniProt P52333","url":"https://www.uniprot.org/uniprotkb/P52333/entry"},{"label":"NCBI Gene 3718","url":"https://www.ncbi.nlm.nih.gov/gene/3718"},{"label":"Ensembl ENSG00000105639","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105639"},{"label":"Kucuk et al., Nat Commun 2015: activating STAT3 and STAT5B mutations in lymphomas derived from NK or gamma-delta T cells","url":"https://doi.org/10.1038/ncomms7025"},{"label":"Green et al., Blood 2010: selective 9p24.1 amplification and PD-1 ligand induction through JAK2 in Hodgkin lymphoma and mediastinal large B-cell lymphoma","url":"https://doi.org/10.1182/blood-2010-05-282780"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","non-hodgkin-lymphoma","skin-cancer","lung-cancer","colorectal","all-leukemia","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["jak-stat"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: T-cell Acute Lymphoblastic Leukaemia.","Lymphoma, JAK-STAT, in NK/T-cell lymphoma and in Hodgkin lymphoma: STAT3 and STAT5B mutations lock the transcription factor in its phosphorylated form. The STAT5B N642H substitution increases the binding affinity of the phosphotyrosine for the mutant histidine, so the phosphorylated protein persists and binds its target sites far more, and the growth advantage it gives can be partly reversed by a JAK1/2 inhibitor in the laboratory (Kucuk 2015). In Hodgkin lymphoma and primary mediastinal B-cell lymphoma the pathway is switched on from the other end, by amplification of JAK2 inside the 9p24.1 amplicon and by loss of the brakes SOCS1 and PTPN1. Frequency: Activating STAT3 and STAT5B mutations across 51 NK/T-cell lymphomas and 43 gamma-delta T-cell lymphomas, with STAT5B N642H particularly frequent in the gamma-delta group (Kucuk 2015). JAK2 sits in the 9p24.1 amplicon in Hodgkin lymphoma and mediastinal large B-cell lymphoma, and its amplification raises both protein and activity and specifically induces PD-1 ligand transcription (Green 2010). What it changes about treatment: Not through an approved drug. JAK inhibitors have been tested in both settings without becoming standard; the practical consequence of the Hodgkin and mediastinal finding is that it explains why checkpoint blockade works there."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"JAK3","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6193","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6193","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P52333","url":"https://www.uniprot.org/uniprotkb/P52333/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene JAK3","url":"https://civicdb.org/features/3091","note":"3 evidence items, 0 assertions, 8 variants; diseases: Lung Adenocarcinoma, T-cell Acute Lymphoblastic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000105639","url":"https://platform.opentargets.org/target/ENSG00000105639/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.52, acute lymphoblastic leukaemia 0.62, non-Hodgkin lymphoma 0.65, skin cancer 0.58, myeloproliferative neoplasm 0.73, acquired polycythemia vera 0.55 (GraphQL API, CC0)"},{"label":"IntOGen JAK3","url":"https://www.intogen.org/search?gene=JAK3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA JAK3: RNA tissue enhanced (lymphoid tissue 53 nTPM); no normal tissue stained high. Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lymphoma, Skin cancer (all types), Lung cancer (all types), Colorectal cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (myelofibrosis, acquired polycythemia vera, essential thrombocythemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P52333","url":"https://www.uniprot.org/uniprotkb/P52333/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene JAK3","url":"https://civicdb.org/features/3091","note":"3 evidence items, 0 assertions, 8 variants; diseases: Lung Adenocarcinoma, T-cell Acute Lymphoblastic Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen JAK3","url":"https://www.intogen.org/search?gene=JAK3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas JAK3 tissue","url":"https://www.proteinatlas.org/ENSG00000105639-JAK3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105639 associations","url":"https://platform.opentargets.org/target/ENSG00000105639/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6193","ensembl":"ENSG00000105639","uniprot":"P52333","entrez":"3718","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kawamura et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase expressed in natural killer cells and activated leukocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8022790/","biology":"Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signalling events in both innate and adaptive immunity and plays a crucial role in haematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. Location: Endomembrane system; Cytoplasm (UniProt). Locus 19p13.11 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.73 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.67 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.65 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.55 with lung cancer (MONDO_0008903)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)"],"targetClass":"kinase","prevalence":[]},{"id":"jazf1","kind":"target","name":"JAZF1","aka":["JAZF zinc finger 1","Juxtaposed with another zinc finger protein 1","TIP27","DKFZp761K2222","ZNF802"],"tldr":"JAZF1 (Juxtaposed with another zinc finger protein 1) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Skin cancer and Prostate cancer.","summary":"Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2. Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity. Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.68, somatic mutation 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28917","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28917"},{"label":"UniProt Q86VZ6","url":"https://www.uniprot.org/uniprotkb/Q86VZ6/entry"},{"label":"NCBI Gene 221895","url":"https://www.ncbi.nlm.nih.gov/gene/221895"},{"label":"Ensembl ENSG00000153814","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153814"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"JAZF1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:28917","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28917","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86VZ6","url":"https://www.uniprot.org/uniprotkb/Q86VZ6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000153814","url":"https://platform.opentargets.org/target/ENSG00000153814/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: prostate cancer 0.52, skin cancer 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:28917","ensembl":"ENSG00000153814","uniprot":"Q86VZ6","entrez":"221895","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Scherer S.W. et al, Science, 2003, \"Human chromosome 7: DNA sequence and biology\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12690205/","biology":"Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2. Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity. Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD. Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue. Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity. Location: Nucleus (UniProt). Locus 7p15.2-p15.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315)"],"targetClass":"transcription","prevalence":[]},{"id":"jun","kind":"target","name":"JUN","aka":["Jun proto-oncogene, AP-1 transcription factor subunit","Transcription factor Jun","c-Jun","AP-1"],"tldr":"JUN (Transcription factor Jun) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Skin cancer and Melanoma.","summary":"Transcription factor that recognises and binds to the AP-1 consensus motif 5'-TGA[GC]TCA-3'. Heterodimerises with proteins of the FOS family to form an AP-1 transcription complex, thereby enhancing its DNA binding activity to the AP-1 consensus sequence 5'-TGA[GC]TCA-3' and enhancing its transcriptional activity. Together with FOSB, plays a role in activation-induced cell death of T cells by binding to the AP-1 promoter site of FASLG/CD95L, and inducing its transcription in response to activation of the TCR/CD3 signalling pathway.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Irbesartan. Open Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes literature 1.00, affected pathway 0.71, animal model 0.33, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6204","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6204"},{"label":"UniProt P05412","url":"https://www.uniprot.org/uniprotkb/P05412/entry"},{"label":"NCBI Gene 3725","url":"https://www.ncbi.nlm.nih.gov/gene/3725"},{"label":"Ensembl ENSG00000177606","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177606"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"JUN","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6204","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6204","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P05412","url":"https://www.uniprot.org/uniprotkb/P05412/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene JUN","url":"https://civicdb.org/features/3094","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Adenocarcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000177606","url":"https://platform.opentargets.org/target/ENSG00000177606/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: colorectal cancer 0.54, melanoma 0.56, skin cancer 0.56 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA JUN: RNA low tissue specificity; high antibody staining in 8 normal tissues; highest cancer staining cervical cancer (10 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas JUN tissue","url":"https://www.proteinatlas.org/ENSG00000177606-JUN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000177606 associations","url":"https://platform.opentargets.org/target/ENSG00000177606/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6204","ensembl":"ENSG00000177606","uniprot":"P05412","entrez":"3725","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bohmann et al, Science, 1987, \"Human proto-oncogene c-jun encodes a DNA binding protein with structural and functional properties of transcription factor AP-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2825349/","biology":"Transcription factor that recognises and binds to the AP-1 consensus motif 5'-TGA[GC]TCA-3'. Heterodimerises with proteins of the FOS family to form an AP-1 transcription complex, thereby enhancing its DNA binding activity to the AP-1 consensus sequence 5'-TGA[GC]TCA-3' and enhancing its transcriptional activity. Together with FOSB, plays a role in activation-induced cell death of T cells by binding to the AP-1 promoter site of FASLG/CD95L, and inducing its transcription in response to activation of the TCR/CD3 signalling pathway. Promotes activity of NR5A1 when phosphorylated by HIPK3 leading to increased steroidogenic gene expression upon cAMP signalling pathway stimulation. Involved in activated KRAS-mediated transcriptional activation of USP28 in colorectal cancer (CRC) cells. Binds to the USP28 promoter in colorectal cancer (CRC) cells. Location: Nucleus (UniProt). Locus 1p32.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.56 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"kank1","kind":"target","name":"KANK1","aka":["KN motif and ankyrin repeat domains 1","KN motif and ankyrin repeat domain-containing protein 1","KIAA0172","ANKRD15"],"tldr":"KANK1 (KN motif and ankyrin repeat domain-containing protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Adapter protein that links structural and signalling protein complexes positioned to guide microtubule and actin cytoskeleton dynamics during cell morphogenesis. At focal adhesions (FAs) rims, organises cortical microtubule stabilising complexes (CMSCs) and directly interacts with major FA component TLN1, forming macromolecular assemblies positioned to control microtubule-actin crosstalk at the cell edge. Recruits KIF21A in CMSCs at axonal growth cones and regulates axon guidance by suppressing microtubule growth without inducing microtubule disassembly once it reaches the cell cortex.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.89, affected pathway 0.76, genetic association 0.63).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19309","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19309"},{"label":"UniProt Q14678","url":"https://www.uniprot.org/uniprotkb/Q14678/entry"},{"label":"NCBI Gene 23189","url":"https://www.ncbi.nlm.nih.gov/gene/23189"},{"label":"Ensembl ENSG00000107104","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107104"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KANK1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:19309","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19309","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14678","url":"https://www.uniprot.org/uniprotkb/Q14678/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107104","url":"https://platform.opentargets.org/target/ENSG00000107104/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:19309","ensembl":"ENSG00000107104","uniprot":"Q14678","entrez":"23189","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1996, \"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8724849/","biology":"Adapter protein that links structural and signalling protein complexes positioned to guide microtubule and actin cytoskeleton dynamics during cell morphogenesis. At focal adhesions (FAs) rims, organises cortical microtubule stabilising complexes (CMSCs) and directly interacts with major FA component TLN1, forming macromolecular assemblies positioned to control microtubule-actin crosstalk at the cell edge. Recruits KIF21A in CMSCs at axonal growth cones and regulates axon guidance by suppressing microtubule growth without inducing microtubule disassembly once it reaches the cell cortex. Interacts with ARFGEF1 and participates in establishing microtubule-organising centre (MTOC) orientation and directed cell movement in wound healing. Regulates actin stress fibre formation and cell migration by inhibiting RHOA activation in response to growth factors; this function involves phosphorylation through PI3K/Akt signalling and may depend on the competitive interaction with 14-3-3 adapter proteins to sequester them from active complexes. Inhibits the formation of lamellipodia but not of filopodia; this function may depend on the competitive interaction with BAIAP2 to block its association with activated RAC1. Location: Cytoplasm, cell cortex; Cell projection, ruffle membrane; Cytoplasm; Nucleus (UniProt). Locus 9p24.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"kat2a","kind":"target","name":"KAT2A","aka":["lysine acetyltransferase 2A","Histone acetyltransferase KAT2A","GCN5","PCAF-b","GCN5L2"],"tldr":"KAT2A (Histone acetyltransferase KAT2A) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Protein lysine acyltransferase that catalyses acetylation of histone and non-histone proteins using acetyl-CoA. Also catalyses acyl-CoA-dependent acylation of lysine residues in proteins using alternative acyl-CoA donors, including propionyl-CoA, butyryl-CoA, succinyl-CoA, glutaryl-CoA, crotonyl-CoA and lactoyl-CoA. Acts as a histone lysine succinyltransferase: catalyses succinylation of histone H3 on 'Lys-79' (H3K79succ), with a maximum frequency around the transcription start sites of genes.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.80, animal model 0.30, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4201","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4201"},{"label":"UniProt Q92830","url":"https://www.uniprot.org/uniprotkb/Q92830/entry"},{"label":"NCBI Gene 2648","url":"https://www.ncbi.nlm.nih.gov/gene/2648"},{"label":"Ensembl ENSG00000108773","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108773"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KAT2A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:4201","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4201","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92830","url":"https://www.uniprot.org/uniprotkb/Q92830/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108773","url":"https://platform.opentargets.org/target/ENSG00000108773/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:4201","ensembl":"ENSG00000108773","uniprot":"Q92830","entrez":"2648","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Candau et al, Mol. Cell. Biol, 1996, \"Identification of human proteins functionally conserved with the yeast putative adaptors ADA2 and GCN5\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8552087/","biology":"Protein lysine acyltransferase that catalyses acetylation of histone and non-histone proteins using acetyl-CoA. Also catalyses acyl-CoA-dependent acylation of lysine residues in proteins using alternative acyl-CoA donors, including propionyl-CoA, butyryl-CoA, succinyl-CoA, glutaryl-CoA, crotonyl-CoA and lactoyl-CoA. Acts as a histone lysine succinyltransferase: catalyses succinylation of histone H3 on 'Lys-79' (H3K79succ), with a maximum frequency around the transcription start sites of genes. Succinylation of histones gives a specific tag for epigenetic transcription activation. Association with the 2-oxoglutarate dehydrogenase complex, which provides succinyl-CoA, is required for histone succinylation. In different complexes, functions either as an acetyltransferase (HAT) or as a succinyltransferase: in the SAGA and ATAC complexes, acts as a histone acetyltransferase. Location: Nucleus; Chromosome; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 17q21.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"kat2b","kind":"target","name":"KAT2B","aka":["lysine acetyltransferase 2B","Histone acetyltransferase KAT2B","P/CAF","GCN5","GCN5L"],"tldr":"KAT2B (Histone acetyltransferase KAT2B) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Has a a strong preference for acetylation of H3 at 'Lys-9' (H3K9ac).\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.94, genetic association 0.30).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8638","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8638"},{"label":"UniProt Q92831","url":"https://www.uniprot.org/uniprotkb/Q92831/entry"},{"label":"NCBI Gene 8850","url":"https://www.ncbi.nlm.nih.gov/gene/8850"},{"label":"Ensembl ENSG00000114166","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114166"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KAT2B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8638","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8638","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92831","url":"https://www.uniprot.org/uniprotkb/Q92831/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000114166","url":"https://platform.opentargets.org/target/ENSG00000114166/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8638","ensembl":"ENSG00000114166","uniprot":"Q92831","entrez":"8850","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yang X.-J. et al, Nature, 1996, \"A p300/CBP-associated factor that competes with the adenoviral oncoprotein E1A\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8684459/","biology":"Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Has a a strong preference for acetylation of H3 at 'Lys-9' (H3K9ac). Also acetylates non-histone proteins, such as ACLY, MAPRE1/EB1, PLK4, RRP9/U3-55K and TBX5. Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-BMAL1 and CLOCK-BMAL1 heterodimers. Location: Nucleus; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm (UniProt). Locus 3p24.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"kat5","kind":"target","name":"KAT5","aka":["lysine acetyltransferase 5","Histone acetyltransferase KAT5","TIP60","cPLA2","HTATIP1","ESA1","HTATIP"],"tldr":"KAT5 (Histone acetyltransferase KAT5) is a protein that switches other genes on and off. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"Catalytic subunit of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H2A and H4. Histone acetylation alters nucleosome-DNA interactions and promotes interaction of the modified histones with other proteins which positively regulate transcription. The NuA4 histone acetyltransferase complex is required for the activation of transcriptional programs associated with proto-oncogene mediated growth induction, tumour suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.87, genetic association 0.00, somatic mutation 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5275","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5275"},{"label":"UniProt Q92993","url":"https://www.uniprot.org/uniprotkb/Q92993/entry"},{"label":"NCBI Gene 10524","url":"https://www.ncbi.nlm.nih.gov/gene/10524"},{"label":"Ensembl ENSG00000172977","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172977"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KAT5","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5275","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5275","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92993","url":"https://www.uniprot.org/uniprotkb/Q92993/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172977","url":"https://platform.opentargets.org/target/ENSG00000172977/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5275","ensembl":"ENSG00000172977","uniprot":"Q92993","entrez":"10524","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kamine et al, Virology, 1996, \"Identification of a cellular protein that specifically interacts with the essential cysteine region of the HIV-1 Tat transactivator\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8607265/","biology":"Catalytic subunit of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H2A and H4. Histone acetylation alters nucleosome-DNA interactions and promotes interaction of the modified histones with other proteins which positively regulate transcription. The NuA4 histone acetyltransferase complex is required for the activation of transcriptional programs associated with proto-oncogene mediated growth induction, tumour suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR): the complex inhibits TP53BP1 binding to chromatin via MBTD1, which recognises and binds histone H4 trimethylated at 'Lys-20' (H4K20me), and KAT5 that catalyses acetylation of 'Lys-15' of histone H2A (H2AK15ac), thereby blocking the ubiquitination mark required for TP53BP1 localisation at DNA breaks. Also involved in DSB repair by mediating acetylation of 'Lys-5' of histone H2AX (H2AXK5ac), promoting NBN/NBS1 assembly at the sites of DNA damage. The NuA4 complex plays a key role in haematopoietic stem cell maintenance and is required to maintain acetylated H2A.Z/H2AZ1 at MYC target genes. Location: Nucleus; Chromosome; Cytoplasm; Chromosome, centromere, kinetochore (UniProt). Locus 11q13.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"kat6a","kind":"target","name":"KAT6A","aka":["lysine acetyltransferase 6A","Histone acetyltransferase KAT6A","ZNF220","RUNXBP2","MYST3"],"tldr":"KAT6A (Histone acetyltransferase KAT6A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Oesophageal cancer, Skin cancer, Breast cancer and 5 more.","summary":"Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.98, animal model 0.48, genetic association 0.00, somatic mutation 0.86). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13013","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13013"},{"label":"UniProt Q92794","url":"https://www.uniprot.org/uniprotkb/Q92794/entry"},{"label":"NCBI Gene 7994","url":"https://www.ncbi.nlm.nih.gov/gene/7994"},{"label":"Ensembl ENSG00000083168","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083168"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["esophageal","skin-cancer","breast-cancer","colorectal","lung-cancer","ovarian","oesophageal-adenocarcinoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KAT6A","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:13013","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13013","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92794","url":"https://www.uniprot.org/uniprotkb/Q92794/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000083168","url":"https://platform.opentargets.org/target/ENSG00000083168/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.53, ovarian cancer 0.52, melanoma 0.56, skin cancer 0.57, breast cancer 0.55, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen KAT6A","url":"https://www.intogen.org/search?gene=KAT6A","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:13013","ensembl":"ENSG00000083168","uniprot":"Q92794","entrez":"7994","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Borrow et al, Nat. Genet, 1996, \"The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8782817/","biology":"Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML. May play a role in leukemogenic gene transcription. Location: Nucleus; Nucleus, nucleolus; Nucleus, nucleoplasm; Nucleus, PML body (UniProt). Locus 8p11.21 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Ovarian cancer: Open Targets association 0.52 with ovarian cancer (MONDO_0008170)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"kat6b","kind":"target","name":"KAT6B","aka":["lysine acetyltransferase 6B","Histone acetyltransferase KAT6B","querkopf","qkf","Morf","MOZ2","MYST4"],"tldr":"KAT6B (Histone acetyltransferase KAT6B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Nasopharyngeal carcinoma, Prostate cancer and 4 more.","summary":"Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.89, animal model 0.28, genetic association 0.00, somatic mutation 0.87). IntOGen calls it a driver in 5 cohorts (1 activating, 4 loss-of-function), covering Invasive Breast Carcinoma, Low-Grade Glioma, NOS, Medulloblastoma, Nasopharyngeal Carcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17582"},{"label":"UniProt Q8WYB5","url":"https://www.uniprot.org/uniprotkb/Q8WYB5/entry"},{"label":"NCBI Gene 23522","url":"https://www.ncbi.nlm.nih.gov/gene/23522"},{"label":"Ensembl ENSG00000156650","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156650"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","nasopharyngeal","prostate","skin-cancer","colorectal","medulloblastoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KAT6B","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:17582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17582","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WYB5","url":"https://www.uniprot.org/uniprotkb/Q8WYB5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000156650","url":"https://platform.opentargets.org/target/ENSG00000156650/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: colorectal cancer 0.51, melanoma 0.51, skin cancer 0.55, breast cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen KAT6B","url":"https://www.intogen.org/search?gene=KAT6B","note":"driver in 5 cohorts (Act 1, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:17582","ensembl":"ENSG00000156650","uniprot":"Q8WYB5","entrez":"23522","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9205841/","biology":"Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Location: Nucleus (UniProt). Locus 10q22.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Medulloblastoma: IntOGen driver in 1 cohort (MBL)"],"targetClass":"transcription","prevalence":[]},{"id":"kat7","kind":"target","name":"KAT7","aka":["lysine acetyltransferase 7","Histone acetyltransferase KAT7","HBO1","MYST2"],"tldr":"KAT7 (Histone acetyltransferase KAT7) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer.","summary":"Catalytic subunit of histone acetyltransferase HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), thereby regulating various processes, such as gene transcription, protein ubiquitination, immune regulation, stem cell pluripotent and self-renewal maintenance and embryonic development. Some complexes also catalyse acetylation of histone H4 at 'Lys-5', 'Lys-8' and 'Lys-12' (H4K5ac, H4K8ac and H4K12ac, respectively), regulating DNA replication initiation, regulating DNA replication initiation. Specificity of the HBO1 complexes is determined by the scaffold subunit: complexes containing BRPF scaffold (BRPF1, BRD1/BRPF2 or BRPF3) direct KAT7/HBO1 specificity towards H3K14ac, while complexes containing JADE (JADE1, JADE2 and JADE3) scaffold direct KAT7/HBO1 specificity towards histone H4.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17016","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17016"},{"label":"UniProt O95251","url":"https://www.uniprot.org/uniprotkb/O95251/entry"},{"label":"NCBI Gene 11143","url":"https://www.ncbi.nlm.nih.gov/gene/11143"},{"label":"Ensembl ENSG00000136504","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136504"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt keyword \"DNA repair\". Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KAT7","role":["tumour-suppressor","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:17016","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17016","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95251","url":"https://www.uniprot.org/uniprotkb/O95251/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen KAT7","url":"https://www.intogen.org/search?gene=KAT7","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:17016","ensembl":"ENSG00000136504","uniprot":"O95251","entrez":"11143","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Iizuka et al, J. Biol. Chem, 1999, \"Histone acetyltransferase HBO1 interacts with the ORC1 subunit of the human initiator protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10438470/","biology":"Catalytic subunit of histone acetyltransferase HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), thereby regulating various processes, such as gene transcription, protein ubiquitination, immune regulation, stem cell pluripotent and self-renewal maintenance and embryonic development. Some complexes also catalyse acetylation of histone H4 at 'Lys-5', 'Lys-8' and 'Lys-12' (H4K5ac, H4K8ac and H4K12ac, respectively), regulating DNA replication initiation, regulating DNA replication initiation. Specificity of the HBO1 complexes is determined by the scaffold subunit: complexes containing BRPF scaffold (BRPF1, BRD1/BRPF2 or BRPF3) direct KAT7/HBO1 specificity towards H3K14ac, while complexes containing JADE (JADE1, JADE2 and JADE3) scaffold direct KAT7/HBO1 specificity towards histone H4. H3K14ac promotes transcriptional elongation by facilitating the processivity of RNA polymerase II. Acts as a key regulator of haematopoiesis by forming a complex with BRD1/BRPF2, directing KAT7/HBO1 specificity towards H3K14ac and promoting erythroid differentiation. H3K14ac is also required for T-cell development. Location: Nucleus; Chromosome; Chromosome, centromere; Cytoplasm, cytosol (UniProt). Locus 17q21.33 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"kcna3","kind":"target","name":"KCNA3","aka":["potassium voltage-gated channel subfamily A member 3","Potassium voltage-gated channel subfamily A member 3","Kv1.3","MK3","HLK3","HPCN3","RP11-284N8.3"],"tldr":"KCNA3 (Potassium voltage-gated channel subfamily A member 3) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. Mediates the voltage-dependent potassium ion permeability of excitable membranes.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.47, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6221","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6221"},{"label":"UniProt P22001","url":"https://www.uniprot.org/uniprotkb/P22001/entry"},{"label":"NCBI Gene 3738","url":"https://www.ncbi.nlm.nih.gov/gene/3738"},{"label":"Ensembl ENSG00000177272","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177272"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNA3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6221","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6221","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P22001","url":"https://www.uniprot.org/uniprotkb/P22001/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000177272","url":"https://platform.opentargets.org/target/ENSG00000177272/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNA3: RNA tissue enhanced (intestine 2 nTPM, lung 2 nTPM, lymphoid tissue 3 nTPM); blood lineage group enriched (B-cells 3 nTPM, T-cells 10 nTPM); no normal tissue stained high; highest cancer staining glioma (2 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNA3 tissue","url":"https://www.proteinatlas.org/ENSG00000177272-KCNA3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000177272 associations","url":"https://platform.opentargets.org/target/ENSG00000177272/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6221","ensembl":"ENSG00000177272","uniprot":"P22001","entrez":"3738","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Philipson L.H. et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Sequence and functional expression in Xenopus oocytes of a human insulinoma and islet potassium channel\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1986382/","biology":"Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. Lacks voltage-gated potassium channel activity. Location: Cell membrane; Cytoplasm, perinuclear region (UniProt). Locus 1p13.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcna4","kind":"target","name":"KCNA4","aka":["potassium voltage-gated channel subfamily A member 4","Potassium voltage-gated channel subfamily A member 4","Kv1.4","HK1","HPCN2","PCN2","KCNA4L"],"tldr":"KCNA4 (Potassium voltage-gated channel subfamily A member 4) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.19, genetic association 0.24, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6222","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6222"},{"label":"UniProt P22459","url":"https://www.uniprot.org/uniprotkb/P22459/entry"},{"label":"NCBI Gene 3739","url":"https://www.ncbi.nlm.nih.gov/gene/3739"},{"label":"Ensembl ENSG00000182255","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182255"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNA4","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6222","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6222","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P22459","url":"https://www.uniprot.org/uniprotkb/P22459/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182255","url":"https://platform.opentargets.org/target/ENSG00000182255/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNA4: RNA tissue enhanced (adrenal gland 6 nTPM, brain 8 nTPM); no normal tissue stained high; highest cancer staining pancreatic cancer (1 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNA4 tissue","url":"https://www.proteinatlas.org/ENSG00000182255-KCNA4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000182255 associations","url":"https://platform.opentargets.org/target/ENSG00000182255/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6222","ensembl":"ENSG00000182255","uniprot":"P22459","entrez":"3739","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Philipson L.H. et al, Nucleic Acids Res, 1990, \"Sequence of a human fetal skeletal muscle potassium channel cDNA related to RCK4\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2263489/","biology":"Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Location: Cell membrane; Cell projection, axon (UniProt). Locus 11p14.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnb2","kind":"target","name":"KCNB2","aka":["potassium voltage-gated channel subfamily B member 2","Potassium voltage-gated channel subfamily B member 2","Kv2.2"],"tldr":"KCNB2 (Potassium voltage-gated channel subfamily B member 2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarisation.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.04, genetic association 0.55, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6232","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6232"},{"label":"UniProt Q92953","url":"https://www.uniprot.org/uniprotkb/Q92953/entry"},{"label":"NCBI Gene 9312","url":"https://www.ncbi.nlm.nih.gov/gene/9312"},{"label":"Ensembl ENSG00000182674","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182674"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNB2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6232","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6232","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92953","url":"https://www.uniprot.org/uniprotkb/Q92953/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182674","url":"https://platform.opentargets.org/target/ENSG00000182674/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNB2: RNA tissue enhanced (brain 2 nTPM, lymphoid tissue 2 nTPM, retina 4 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNB2 tissue","url":"https://www.proteinatlas.org/ENSG00000182674-KCNB2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000182674 associations","url":"https://platform.opentargets.org/target/ENSG00000182674/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6232","ensembl":"ENSG00000182674","uniprot":"Q92953","entrez":"9312","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schmalz et al, Am. J. Physiol, 1998, \"Molecular identification of a component of delayed rectifier current in gastrointestinal smooth muscles\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9612272/","biology":"Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarisation. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB1; channel properties depend on the type of alpha subunits that are part of the channel. Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNS1 and KCNS2, creating a functionally diverse range of channel complexes. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Location: Cell membrane; Perikaryon; Cell projection, dendrite (UniProt). Locus 8q21.11 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnc2","kind":"target","name":"KCNC2","aka":["potassium voltage-gated channel subfamily C member 2","Voltage-gated potassium channel KCNC2","Kv3.2"],"tldr":"KCNC2 (Voltage-gated potassium channel KCNC2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarisation and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.14, genetic association 0.22, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6234","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6234"},{"label":"UniProt Q96PR1","url":"https://www.uniprot.org/uniprotkb/Q96PR1/entry"},{"label":"NCBI Gene 3747","url":"https://www.ncbi.nlm.nih.gov/gene/3747"},{"label":"Ensembl ENSG00000166006","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166006"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNC2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6234","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6234","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96PR1","url":"https://www.uniprot.org/uniprotkb/Q96PR1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000166006","url":"https://platform.opentargets.org/target/ENSG00000166006/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNC2: RNA tissue enriched (brain 34 nTPM); no normal tissue stained high; highest cancer staining ovarian cancer (1 of 10 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNC2 tissue","url":"https://www.proteinatlas.org/ENSG00000166006-KCNC2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000166006 associations","url":"https://platform.opentargets.org/target/ENSG00000166006/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6234","ensembl":"ENSG00000166006","uniprot":"Q96PR1","entrez":"3747","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Haas et al, Mamm. Genome, 1993, \"Localization of Shaw-related K+ channel genes on mouse and human chromosomes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8111118/","biology":"Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarisation and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly. Forms tetrameric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNC1, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Location: Cell membrane; Membrane; Perikaryon; Cell projection, axon (UniProt). Locus 12q21.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnd2","kind":"target","name":"KCND2","aka":["potassium voltage-gated channel subfamily D member 2","A-type voltage-gated potassium channel KCND2","Kv4.2","RK5","KIAA1044"],"tldr":"KCND2 (A-type voltage-gated potassium channel KCND2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons. This current is activated at membrane potentials that are below the threshold for action potentials.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.74, genetic association 0.28, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6238","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6238"},{"label":"UniProt Q9NZV8","url":"https://www.uniprot.org/uniprotkb/Q9NZV8/entry"},{"label":"NCBI Gene 3751","url":"https://www.ncbi.nlm.nih.gov/gene/3751"},{"label":"Ensembl ENSG00000184408","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184408"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCND2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6238","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6238","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZV8","url":"https://www.uniprot.org/uniprotkb/Q9NZV8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184408","url":"https://platform.opentargets.org/target/ENSG00000184408/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCND2: RNA tissue enriched (brain 32 nTPM); high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCND2 tissue","url":"https://www.proteinatlas.org/ENSG00000184408-KCND2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184408 associations","url":"https://platform.opentargets.org/target/ENSG00000184408/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6238","ensembl":"ENSG00000184408","uniprot":"Q9NZV8","entrez":"3751","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kong et al, Am. J. Physiol, 1998, \"Isolation and characterization of the human gene encoding Ito: further diversity by alternative mRNA splicing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9843794/","biology":"Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons. This current is activated at membrane potentials that are below the threshold for action potentials. It regulates neuronal excitability, prolongs the latency before the first spike in a series of action potentials, regulates the frequency of repetitive action potential firing, shortens the duration of action potentials and regulates the back-propagation of action potentials from the neuronal cell body to the dendrites. Contributes to the regulation of the circadian rhythm of action potential firing in suprachiasmatic nucleus neurons, which regulates the circadian rhythm of locomotor activity. Functions downstream of the metabotropic glutamate receptor GRM5 and plays a role in neuronal excitability and in nociception mediated by activation of GRM5. Location: Cell membrane; Cell projection, dendrite; Synapse; Perikaryon (UniProt). Locus 7q31.31 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnd3","kind":"target","name":"KCND3","aka":["potassium voltage-gated channel subfamily D member 3","A-type voltage-gated potassium channel KCND3","Kv4.3","KSHIVB","SCA22","SCA19"],"tldr":"KCND3 (A-type voltage-gated potassium channel KCND3) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming (alpha) subunit of voltage-gated A-type potassium channels that mediates transmembrane potassium transport in excitable membranes, in brain and heart. In cardiomyocytes, may generate the transient outward potassium current I(To). In neurons, may conduct the transient subthreshold somatodendritic A-type potassium current (ISA).\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.17, animal model 0.48, genetic association 0.36, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6239","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6239"},{"label":"UniProt Q9UK17","url":"https://www.uniprot.org/uniprotkb/Q9UK17/entry"},{"label":"NCBI Gene 3752","url":"https://www.ncbi.nlm.nih.gov/gene/3752"},{"label":"Ensembl ENSG00000171385","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171385"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCND3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6239","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6239","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UK17","url":"https://www.uniprot.org/uniprotkb/Q9UK17/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171385","url":"https://platform.opentargets.org/target/ENSG00000171385/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCND3: RNA tissue enhanced (brain 29 nTPM); no normal tissue stained high; highest cancer staining carcinoid (1 of 4 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCND3 tissue","url":"https://www.proteinatlas.org/ENSG00000171385-KCND3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171385 associations","url":"https://platform.opentargets.org/target/ENSG00000171385/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6239","ensembl":"ENSG00000171385","uniprot":"Q9UK17","entrez":"3752","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kong et al, Am. J. Physiol, 1998, \"Isolation and characterization of the human gene encoding Ito: further diversity by alternative mRNA splicing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9843794/","biology":"Pore-forming (alpha) subunit of voltage-gated A-type potassium channels that mediates transmembrane potassium transport in excitable membranes, in brain and heart. In cardiomyocytes, may generate the transient outward potassium current I(To). In neurons, may conduct the transient subthreshold somatodendritic A-type potassium current (ISA). Kinetics properties are characterised by fast activation at subthreshold membrane potentials, rapid inactivation, and quick recovery from inactivation. Channel properties are modulated by interactions with regulatory subunits. Interaction with the regulatory subunits KCNIP1 or KCNIP2 modulates the channel gating kinetics namely channel activation and inactivation kinetics and rate of recovery from inactivation. Location: Cell membrane; Cell membrane, sarcolemma; Cell projection, dendrite (UniProt). Locus 1p13.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnf1","kind":"target","name":"KCNF1","aka":["potassium voltage-gated channel modifier subfamily F member 1","Voltage-gated potassium channel regulatory subunit KCNF1","Kv5.1","kH1","IK8"],"tldr":"KCNF1 (Voltage-gated potassium channel regulatory subunit KCNF1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Regulatory alpha-subunit of the voltage-gated potassium (Kv) channel which, when coassembled with KCNB1 or KCNB2, can modulate their expression and their gating kinetics by acting on deactivation upon repolarisation and inactivation during maintained depolarisation. Accelerates inactivation but has relatively little effect on deactivation. Coexpression with KCNB1 or KCNB2 markedly slows inactivation.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.69, somatic mutation 0.23, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6246","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6246"},{"label":"UniProt Q9H3M0","url":"https://www.uniprot.org/uniprotkb/Q9H3M0/entry"},{"label":"NCBI Gene 3754","url":"https://www.ncbi.nlm.nih.gov/gene/3754"},{"label":"Ensembl ENSG00000162975","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162975"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNF1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6246","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6246","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H3M0","url":"https://www.uniprot.org/uniprotkb/Q9H3M0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000162975","url":"https://platform.opentargets.org/target/ENSG00000162975/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNF1: RNA group enriched (brain 45 nTPM, choroid plexus 24 nTPM); high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNF1 tissue","url":"https://www.proteinatlas.org/ENSG00000162975-KCNF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162975 associations","url":"https://platform.opentargets.org/target/ENSG00000162975/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6246","ensembl":"ENSG00000162975","uniprot":"Q9H3M0","entrez":"3754","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Su et al, Biochem. Biophys. Res. Commun, 1997, \"Isolation, characterization, and mapping of two human potassium channels\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9434767/","biology":"Regulatory alpha-subunit of the voltage-gated potassium (Kv) channel which, when coassembled with KCNB1 or KCNB2, can modulate their expression and their gating kinetics by acting on deactivation upon repolarisation and inactivation during maintained depolarisation. Accelerates inactivation but has relatively little effect on deactivation. Coexpression with KCNB1 or KCNB2 markedly slows inactivation. Each modulatory subunit has its own specific properties of regulation, and can lead to extensive inhibitions, to large changes in kinetics, and/or to large shifts in the voltage dependencies of the inactivation process. The gating kinetics depends on the nature and stoichiometry of the associated regulatory sunbunit. Fails to produce a potassium current when expressed alone. Location: Cell membrane (UniProt). Locus 2p25.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnh1","kind":"target","name":"KCNH1","aka":["potassium voltage-gated channel subfamily H member 1","Voltage-gated delayed rectifier potassium channel KCNH1","Kv10.1","eag","h-eag","eag1","hEAG","K(V)10.1"],"tldr":"KCNH1 (Voltage-gated delayed rectifier potassium channel KCNH1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarisation, reaches a steady-state level and do not inactivate. The activation kinetics depend on the prepulse potential and external divalent cation concentration. With negative prepulses, the current activation is delayed and slowed down several fold, whereas more positive prepulses speed up activation.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.33, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6250"},{"label":"UniProt O95259","url":"https://www.uniprot.org/uniprotkb/O95259/entry"},{"label":"NCBI Gene 3756","url":"https://www.ncbi.nlm.nih.gov/gene/3756"},{"label":"Ensembl ENSG00000143473","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143473"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNH1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6250","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95259","url":"https://www.uniprot.org/uniprotkb/O95259/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143473","url":"https://platform.opentargets.org/target/ENSG00000143473/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNH1: RNA tissue enriched (brain 16 nTPM); high antibody staining in 6 normal tissues; highest cancer staining glioma (1 of 9 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNH1 tissue","url":"https://www.proteinatlas.org/ENSG00000143473-KCNH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143473 associations","url":"https://platform.opentargets.org/target/ENSG00000143473/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6250","ensembl":"ENSG00000143473","uniprot":"O95259","entrez":"3756","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Occhiodoro et al, FEBS Lett, 1998, \"Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9738473/","biology":"Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents which, on depolarisation, reaches a steady-state level and do not inactivate. The activation kinetics depend on the prepulse potential and external divalent cation concentration. With negative prepulses, the current activation is delayed and slowed down several fold, whereas more positive prepulses speed up activation. The time course of activation is biphasic with a fast and a slowly activating current component. Activates at more positive membrane potentials and exhibit a steeper activation curve. Channel properties are modulated by subunit assembly. Location: Cell membrane; Nucleus inner membrane; Cell projection, dendrite; Cell projection, axon (UniProt). Locus 1q32.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnh7","kind":"target","name":"KCNH7","aka":["potassium voltage-gated channel subfamily H member 7","Voltage-gated inwardly rectifying potassium channel KCNH7","Kv11.3","HERG3","erg3"],"tldr":"KCNH7 (Voltage-gated inwardly rectifying potassium channel KCNH7) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Exhibits faster activation and deactivation kinetics and slow inactivation at membrane potentials positive to 240 mV, resulting in the weakest inward rectification.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.11, genetic association 0.27, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18863","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18863"},{"label":"UniProt Q9NS40","url":"https://www.uniprot.org/uniprotkb/Q9NS40/entry"},{"label":"NCBI Gene 90134","url":"https://www.ncbi.nlm.nih.gov/gene/90134"},{"label":"Ensembl ENSG00000184611","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184611"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNH7","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:18863","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18863","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NS40","url":"https://www.uniprot.org/uniprotkb/Q9NS40/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184611","url":"https://platform.opentargets.org/target/ENSG00000184611/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNH7: RNA tissue enhanced (brain 2 nTPM, retina 1 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNH7 tissue","url":"https://www.proteinatlas.org/ENSG00000184611-KCNH7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184611 associations","url":"https://platform.opentargets.org/target/ENSG00000184611/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18863","ensembl":"ENSG00000184611","uniprot":"Q9NS40","entrez":"90134","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ganetzky et al, 1997, \"Polynucleotides encoding herg-3 potassium channel\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9NS40/entry","biology":"Pore-forming (alpha) subunit of voltage-gated inwardly rectifying potassium channel. Exhibits faster activation and deactivation kinetics and slow inactivation at membrane potentials positive to 240 mV, resulting in the weakest inward rectification. Location: Cell membrane (UniProt). Locus 2q24.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnh8","kind":"target","name":"KCNH8","aka":["potassium voltage-gated channel subfamily H member 8","Voltage-gated delayed rectifier potassium channel KCNH8","Kv12.1","elk3"],"tldr":"KCNH8 (Voltage-gated delayed rectifier potassium channel KCNH8) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents. Elicits a slowly activating, non-inactivating and slowly deactivation outwards potassium current at depolarizating voltages from -30 mV to +50mV. Shows no obvious change in the activation rate from different holding potentials.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.12, animal model 0.45, genetic association 0.49, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18864","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18864"},{"label":"UniProt Q96L42","url":"https://www.uniprot.org/uniprotkb/Q96L42/entry"},{"label":"NCBI Gene 131096","url":"https://www.ncbi.nlm.nih.gov/gene/131096"},{"label":"Ensembl ENSG00000183960","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183960"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNH8","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:18864","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18864","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96L42","url":"https://www.uniprot.org/uniprotkb/Q96L42/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000183960","url":"https://platform.opentargets.org/target/ENSG00000183960/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNH8: RNA group enriched (brain 10 nTPM, pituitary gland 11 nTPM, retina 3 nTPM); blood lineage lineage enriched (B-cells 1 nTPM); high antibody staining in 2 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNH8 tissue","url":"https://www.proteinatlas.org/ENSG00000183960-KCNH8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183960 associations","url":"https://platform.opentargets.org/target/ENSG00000183960/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18864","ensembl":"ENSG00000183960","uniprot":"Q96L42","entrez":"131096","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Baxter D.F. et al, J. Biomol. Screen, 2002, \"A novel membrane potential-sensitive fluorescent dye improves cell-based assays for ion channels\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11897058/","biology":"Pore-forming (alpha) subunit of a voltage-gated delayed rectifier potassium channel that mediates outward-rectifying potassium currents. Elicits a slowly activating, non-inactivating and slowly deactivation outwards potassium current at depolarizating voltages from -30 mV to +50mV. Shows no obvious change in the activation rate from different holding potentials. Activation is strongly dependent on the pH of the external solution. Location: Membrane (UniProt). Locus 3p24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnq1","kind":"target","name":"KCNQ1","aka":["potassium voltage-gated channel subfamily Q member 1","Potassium voltage-gated channel subfamily KQT member 1","Kv7.1","KCNA8","KVLQT1","JLNS1","LQT1","KCNA9"],"tldr":"KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon. Associates with KCNE beta subunits that modulates current kinetics. Induces a voltage-dependent current by rapidly activating and slowly deactivating potassium-selective outward current.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.92, animal model 0.45, genetic association 0.61, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6294","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6294"},{"label":"UniProt P51787","url":"https://www.uniprot.org/uniprotkb/P51787/entry"},{"label":"NCBI Gene 3784","url":"https://www.ncbi.nlm.nih.gov/gene/3784"},{"label":"Ensembl ENSG00000053918","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000053918"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNQ1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6294","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6294","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51787","url":"https://www.uniprot.org/uniprotkb/P51787/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000053918","url":"https://platform.opentargets.org/target/ENSG00000053918/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNQ1: RNA tissue enhanced (adrenal gland 196 nTPM, stomach 1 96 nTPM); high antibody staining in 6 normal tissues; highest cancer staining colorectal cancer (1 of 10 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 2 specific cancer types at or above 0.5 (Lambert-Eaton myasthenic syndrome, Beckwith-Wiedemann syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNQ1 tissue","url":"https://www.proteinatlas.org/ENSG00000053918-KCNQ1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000053918 associations","url":"https://platform.opentargets.org/target/ENSG00000053918/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6294","ensembl":"ENSG00000053918","uniprot":"P51787","entrez":"3784","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sanguinetti M.C. et al, Nature, 1996, \"Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8900283/","biology":"Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of cardiomyocyte excitability and important in normal development and functions of myocardium, inner ear, stomach and colon. Associates with KCNE beta subunits that modulates current kinetics. Induces a voltage-dependent current by rapidly activating and slowly deactivating potassium-selective outward current. Also promotes a delayed voltage activated potassium current showing outward rectification characteristic. During beta-adrenergic receptor stimulation, participates in cardiac repolarisation by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current. Location: Cell membrane; Cytoplasmic vesicle membrane; Early endosome; Membrane raft (UniProt). Locus 11p15.5-p15.4 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnq3","kind":"target","name":"KCNQ3","aka":["potassium voltage-gated channel subfamily Q member 3","Potassium voltage-gated channel subfamily KQT member 3","Kv7.3","EBN2"],"tldr":"KCNQ3 (Potassium voltage-gated channel subfamily KQT member 3) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability. M-channel is composed of pore-forming subunits KCNQ2 and KCNQ3 assembled as heterotetramers. The native M-current has a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.61, genetic association 0.41, somatic mutation 0.23, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6297","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6297"},{"label":"UniProt O43525","url":"https://www.uniprot.org/uniprotkb/O43525/entry"},{"label":"NCBI Gene 3786","url":"https://www.ncbi.nlm.nih.gov/gene/3786"},{"label":"Ensembl ENSG00000184156","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184156"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNQ3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6297","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6297","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43525","url":"https://www.uniprot.org/uniprotkb/O43525/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184156","url":"https://platform.opentargets.org/target/ENSG00000184156/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNQ3: RNA tissue enriched (brain 16 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNQ3 tissue","url":"https://www.proteinatlas.org/ENSG00000184156-KCNQ3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184156 associations","url":"https://platform.opentargets.org/target/ENSG00000184156/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6297","ensembl":"ENSG00000184156","uniprot":"O43525","entrez":"3786","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schroeder B.C. et al, Nature, 1998, \"Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9872318/","biology":"Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability. M-channel is composed of pore-forming subunits KCNQ2 and KCNQ3 assembled as heterotetramers. The native M-current has a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs. M-channel is selectively permeable in vitro to other cations besides potassium, in decreasing order of affinity K(+) > Rb(+) > Cs(+) > Na(+). M-channel association with SLC5A3/SMIT1 alters channel ion selectivity, increasing Na(+) and Cs(+) permeation relative to K(+). Suppressed by activation of M1 muscarinic acetylcholine receptors. Location: Cell membrane (UniProt). Locus 8q24.22 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kcnq5","kind":"target","name":"KCNQ5","aka":["potassium voltage-gated channel subfamily Q member 5","Potassium voltage-gated channel subfamily KQT member 5","Kv7.5"],"tldr":"KCNQ5 (Potassium voltage-gated channel subfamily KQT member 5) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of the voltage-gated potassium (Kv) channel broadly expressed in brain and involved in the regulation of neuronal excitability. Associates with KCNQ3/Kv7.3 pore-forming subunit to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. Contributes, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.74, genetic association 0.48, somatic mutation 0.23, clinical 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6299","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6299"},{"label":"UniProt Q9NR82","url":"https://www.uniprot.org/uniprotkb/Q9NR82/entry"},{"label":"NCBI Gene 56479","url":"https://www.ncbi.nlm.nih.gov/gene/56479"},{"label":"Ensembl ENSG00000185760","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185760"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.76. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KCNQ5","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6299","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6299","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NR82","url":"https://www.uniprot.org/uniprotkb/Q9NR82/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000185760","url":"https://platform.opentargets.org/target/ENSG00000185760/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KCNQ5: RNA group enriched (bone marrow 4 nTPM, brain 13 nTPM, skeletal muscle 15 nTPM); high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Lambert-Eaton myasthenic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KCNQ5 tissue","url":"https://www.proteinatlas.org/ENSG00000185760-KCNQ5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185760 associations","url":"https://platform.opentargets.org/target/ENSG00000185760/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6299","ensembl":"ENSG00000185760","uniprot":"Q9NR82","entrez":"56479","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lerche et al, J. Biol. Chem, 2000, \"Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10787416/","biology":"Pore-forming subunit of the voltage-gated potassium (Kv) channel broadly expressed in brain and involved in the regulation of neuronal excitability. Associates with KCNQ3/Kv7.3 pore-forming subunit to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. Contributes, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Also forms a functional channel with KCNQ1/Kv7.1 subunit that may contribute to vasoconstriction and hypertension. Channel may be selectively permeable in vitro to other cations besides potassium, in decreasing order of affinity K(+) = Rb(+) > Cs(+) > Na(+). Similar to the native M-channel, KCNQ3-KCNQ5 potassium channel is suppressed by activation of the muscarinic acetylcholine receptor CHRM1. Location: Cell membrane (UniProt). Locus 6q13 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kdm3b","kind":"target","name":"KDM3B","aka":["lysine demethylase 3B","Lysine-specific demethylase 3B","KIAA1082","NET22","C5orf7","JMJD1B"],"tldr":"KDM3B (Lysine-specific demethylase 3B) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Medulloblastoma and Paediatric low-grade glioma.","summary":"Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumour suppressor activity.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Medulloblastoma, Pilocytic Astrocytoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1337","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1337"},{"label":"UniProt Q7LBC6","url":"https://www.uniprot.org/uniprotkb/Q7LBC6/entry"},{"label":"NCBI Gene 51780","url":"https://www.ncbi.nlm.nih.gov/gene/51780"},{"label":"Ensembl ENSG00000120733","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000120733"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["medulloblastoma","paediatric-low-grade-glioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KDM3B","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1337","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1337","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7LBC6","url":"https://www.uniprot.org/uniprotkb/Q7LBC6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen KDM3B","url":"https://www.intogen.org/search?gene=KDM3B","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1337","ensembl":"ENSG00000120733","uniprot":"Q7LBC6","entrez":"51780","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kikuno et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10470851/","biology":"Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code. Demethylation of Lys residue generates formaldehyde and succinate. May have tumour suppressor activity. Location: Nucleus (UniProt). Locus 5q31.2 (HGNC).","whereFound":["Medulloblastoma: IntOGen driver in 1 cohort (MBL)","Paediatric low-grade glioma: IntOGen driver in 1 cohort (PAST)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"kdm5a","kind":"target","name":"KDM5A","aka":["lysine demethylase 5A","Lysine-specific demethylase 5A","RBBP2","JARID1A"],"tldr":"KDM5A (Lysine-specific demethylase 5A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer, Leukaemia, Lung cancer and 3 more.","summary":"Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.98). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Gallbladder Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9886","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9886"},{"label":"UniProt P29375","url":"https://www.uniprot.org/uniprotkb/P29375/entry"},{"label":"NCBI Gene 5927","url":"https://www.ncbi.nlm.nih.gov/gene/5927"},{"label":"Ensembl ENSG00000073614","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000073614"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","leukaemia","lung-cancer","colorectal","gallbladder","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["drug-tolerant-persisters"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KDM5A","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9886","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9886","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29375","url":"https://www.uniprot.org/uniprotkb/P29375/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000073614","url":"https://platform.opentargets.org/target/ENSG00000073614/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: colorectal cancer 0.51, melanoma 0.52, skin cancer 0.55, lung cancer 0.54, leukaemia 0.54 (GraphQL API, CC0)"},{"label":"IntOGen KDM5A","url":"https://www.intogen.org/search?gene=KDM5A","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9886","ensembl":"ENSG00000073614","uniprot":"P29375","entrez":"5927","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Defeo-Jones et al, Nature, 1991, \"Cloning of cDNAs for cellular proteins that bind to the retinoblastoma gene product\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1857421/","biology":"Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Regulates specific gene transcription through DNA-binding on 5'-CCGCCC-3' motif. May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation. Location: Nucleus, nucleolus; Nucleus (UniProt). Locus 12p13.33 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Gallbladder cancer: IntOGen driver in 1 cohort (GBC)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"kdm5c","kind":"target","name":"KDM5C","aka":["lysine demethylase 5C","Lysine-specific demethylase 5C","DXS1272E","XE169","JARID1C","MRX13"],"tldr":"KDM5C (Lysine-specific demethylase 5C) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Head and neck squamous cell carcinoma, Ovarian cancer and 5 more.","summary":"Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Everolimus, Capivasertib and Sunitinib. Open Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.98, animal model 0.44, genetic association 0.00, somatic mutation 0.96). IntOGen calls it a driver in 10 cohorts (1 activating, 9 loss-of-function), covering Renal Clear Cell Carcinoma, Head and Neck Squamous Cell Carcinoma, Lung Adenocarcinoma, Ovarian Epithelial Tumour, Pancreatic Adenocarcinoma, Plasma Cell Myeloma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11114","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11114"},{"label":"UniProt P41229","url":"https://www.uniprot.org/uniprotkb/P41229/entry"},{"label":"NCBI Gene 8242","url":"https://www.ncbi.nlm.nih.gov/gene/8242"},{"label":"Ensembl ENSG00000126012","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126012"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["rcc","head-and-neck","ovarian","pancreatic","multiple-myeloma","skin-cancer","colorectal","clear-cell-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 9 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KDM5C","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11114","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11114","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P41229","url":"https://www.uniprot.org/uniprotkb/P41229/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KDM5C","url":"https://civicdb.org/features/6538","note":"2 evidence items, 0 assertions, 2 variants; diseases: Oestrogen Receptor-positive Breast Cancer, Renal Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000126012","url":"https://platform.opentargets.org/target/ENSG00000126012/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.53, renal cell carcinoma 0.68, skin cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen KDM5C","url":"https://www.intogen.org/search?gene=KDM5C","note":"driver in 10 cohorts (Act 1, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KDM5C: RNA low tissue specificity; no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Head and neck squamous cell carcinoma, Ovarian cancer, Pancreatic ductal adenocarcinoma, Multiple myeloma, Skin cancer (all types), Colorectal cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (clear cell renal carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P41229","url":"https://www.uniprot.org/uniprotkb/P41229/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KDM5C","url":"https://civicdb.org/features/6538","note":"2 evidence items, 0 assertions, 2 variants; diseases: Oestrogen Receptor-positive Breast Cancer, Renal Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen KDM5C","url":"https://www.intogen.org/search?gene=KDM5C","note":"driver in 10 cohorts (Act 1, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KDM5C tissue","url":"https://www.proteinatlas.org/ENSG00000126012-KDM5C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000126012 associations","url":"https://platform.opentargets.org/target/ENSG00000126012/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11114","ensembl":"ENSG00000126012","uniprot":"P41229","entrez":"8242","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wu et al, Hum. Mol. Genet, 1994, \"Isolation and characterization of XE169, a novel human gene that escapes X-inactivation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8162017/","biology":"Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Participates in transcriptional repression of neuronal genes by recruiting histone deacetylases and REST at neuron-restrictive silencer elements. Represses the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2. Location: Nucleus (UniProt). Locus Xp11.22 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.68 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},{"id":"kdm5d","kind":"target","name":"KDM5D","aka":["lysine demethylase 5D","Lysine-specific demethylase 5D","KIAA0234","JARID1D"],"tldr":"KDM5D (Lysine-specific demethylase 5D) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Berzosertib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11115","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11115"},{"label":"UniProt Q9BY66","url":"https://www.uniprot.org/uniprotkb/Q9BY66/entry"},{"label":"NCBI Gene 8284","url":"https://www.ncbi.nlm.nih.gov/gene/8284"},{"label":"Ensembl ENSG00000012817","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000012817"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KDM5D","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11115","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11115","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BY66","url":"https://www.uniprot.org/uniprotkb/Q9BY66/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KDM5D","url":"https://civicdb.org/features/6556","note":"1 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA KDM5D: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas KDM5D tissue","url":"https://www.proteinatlas.org/ENSG00000012817-KDM5D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000012817 associations","url":"https://platform.opentargets.org/target/ENSG00000012817/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11115","ensembl":"ENSG00000012817","uniprot":"Q9BY66","entrez":"8284","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kent-First M.G. et al, Nat. Genet, 1996, \"Gene sequence and evolutionary conservation of human SMCY\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8841177/","biology":"Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. May play a role in spermatogenesis. Involved in transcriptional repression of diverse metastasis-associated genes; in this function seems to cooperate with ZMYND8. Suppresses prostate cancer cell invasion. Location: Nucleus (UniProt). Locus Yq11.223 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"kdm6a","kind":"target","name":"KDM6A","aka":["lysine demethylase 6A","Lysine-specific demethylase 6A"],"tldr":"KDM6A (Lysine-specific demethylase 6A) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Prostate cancer, Pancreatic ductal adenocarcinoma and 5 more.","summary":"Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 3 variants, naming Olaparib, Venetoclax, BET Inhibitor and EZH2 Inhibitor. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.00, somatic mutation 0.97). IntOGen calls it a driver in 45 cohorts (11 activating, 34 loss-of-function), covering Acute Lymphoblastic Leukaemia, Bladder/Urinary Tract, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Oesophageal Adenocarcinoma, Oesophageal Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12637","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12637"},{"label":"UniProt O15550","url":"https://www.uniprot.org/uniprotkb/O15550/entry"},{"label":"NCBI Gene 7403","url":"https://www.ncbi.nlm.nih.gov/gene/7403"},{"label":"Ensembl ENSG00000147050","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147050"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","prostate","pancreatic","lung-cancer","esophageal","breast-cancer","hcc","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-waddell-whole-genomes-pancreatic-nature-2015","paper-bailey-molecular-subtypes-pancreatic-nature-2016","paper-andricovich-kdm6a-squamous-pancreatic-cancer-cell-2018"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; IntOGen calls it an activating (Act) driver in 11 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 34 cohorts; CIViC holds 7 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Urinary Bladder Cancer.","Pancreatic ductal adenocarcinoma: inactivating mutations or structural disruption in 3 to 4% (cBioPortal), first proposed as a driver from whole-genome rearrangements (Waddell 2015) and enriched in the squamous subtype (Bailey 2016). KDM6A loss induced squamous-like, metastatic tumours through super-enhancers at delta-Np63, MYC and RUNX3, selectively in females, and conferred BET inhibitor sensitivity in mice (Andricovich 2018)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KDM6A","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12637","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12637","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15550","url":"https://www.uniprot.org/uniprotkb/O15550/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KDM6A","url":"https://civicdb.org/features/6054","note":"7 evidence items, 0 assertions, 3 variants; diseases: Acute Myeloid Leukaemia, Urinary Bladder Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000147050","url":"https://platform.opentargets.org/target/ENSG00000147050/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: gastric cancer 0.54, prostate cancer 0.62, urinary bladder cancer 0.76, neuroendocrine neoplasm 0.55, skin cancer 0.55, breast cancer 0.59 (GraphQL API, CC0)"},{"label":"IntOGen KDM6A","url":"https://www.intogen.org/search?gene=KDM6A","note":"driver in 45 cohorts (Act 11, LoF 34); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KDM6A: RNA low tissue specificity; high antibody staining in 12 normal tissues; highest cancer staining lymphoma (4 of 10 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Prostate cancer, Pancreatic ductal adenocarcinoma, Lung cancer (all types), Oesophageal cancer, Breast cancer (all types), Hepatocellular carcinoma and more); Open Targets associates it with 3 specific cancer types at or above 0.5 (urinary bladder cancer, urinary bladder carcinoma, prostate adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O15550","url":"https://www.uniprot.org/uniprotkb/O15550/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KDM6A","url":"https://civicdb.org/features/6054","note":"7 evidence items, 0 assertions, 3 variants; diseases: Acute Myeloid Leukaemia, Urinary Bladder Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"IntOGen KDM6A","url":"https://www.intogen.org/search?gene=KDM6A","note":"driver in 45 cohorts (Act 11, LoF 34); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KDM6A tissue","url":"https://www.proteinatlas.org/ENSG00000147050-KDM6A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147050 associations","url":"https://platform.opentargets.org/target/ENSG00000147050/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12637","ensembl":"ENSG00000147050","uniprot":"O15550","entrez":"7403","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lahn B.T. et al, Science, 1997, \"Functional coherence of the human Y chromosome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9381176/","biology":"Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-27'. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of 'Lys-27' of histone H3 is concomitant with methylation of 'Lys-4' of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A. Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression. Location: Nucleus (UniProt). Locus Xp11.3 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.76 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 9 cohorts (BLADDER, BLCA)","Prostate cancer: Open Targets association 0.62 with prostate cancer (MONDO_0008315); IntOGen driver in 9 cohorts (PRAD, PROSTATE)","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease; IntOGen driver in 4 cohorts (PAAD)","Lung cancer: Open Targets association 0.63 with lung cancer (MONDO_0008903)","Oesophageal cancer: IntOGen driver in 3 cohorts (ESCA, ESCC)","Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Pancreatic ductal adenocarcinoma: inactivating mutation or structural disruption 3-4%"],"targetClass":"enzyme","prevalence":[{"cancerId":"pancreatic","pct":"3-4","measure":"Inactivating mutation or structural disruption","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal: 91 of 2,336, 3.9%, in pdac_msk_2024; 12 of 383, 3.1%, in paad_qcmg_uq_2016; 7 of 179, 3.9%, in paad_tcga_pan_can_atlas_2018; 12 of 395, 3.0%, in pancreas_msk_2024. Named a new candidate driver by structural variation in 100 whole genomes (Waddell 2015); the squamous subtype is enriched for KDM6A mutation (Bailey 2016); KDM6A loss induced squamous-like, metastatic tumours through super-enhancer activation of TP63, MYC and RUNX3 and conferred BET inhibitor sensitivity in mice (Andricovich 2018)."}]},{"id":"kdm7a","kind":"target","name":"KDM7A","aka":["lysine demethylase 7A","Lysine-specific demethylase 7A","KIAA1718","JHDM1D"],"tldr":"KDM7A (Lysine-specific demethylase 7A) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Histone demethylase required for brain development. Specifically demethylates dimethylated 'Lys-9', 'Lys-27' and 'Lys-36' (H3K9me2, H3K27me2, H3K36me2, respectively) of histone H3 and monomethylated histone H4 'Lys-20' residue (H4K20Me1), thereby playing a central role in histone code. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: in presence of H3K4me3, it has no demethylase activity toward H3K9me2, while it has high activity toward H3K27me2.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.92, affected pathway 0.89, animal model 0.36, genetic association 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:22224","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22224"},{"label":"UniProt Q6ZMT4","url":"https://www.uniprot.org/uniprotkb/Q6ZMT4/entry"},{"label":"NCBI Gene 80853","url":"https://www.ncbi.nlm.nih.gov/gene/80853"},{"label":"Ensembl ENSG00000006459","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000006459"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KDM7A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:22224","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22224","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6ZMT4","url":"https://www.uniprot.org/uniprotkb/Q6ZMT4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000006459","url":"https://platform.opentargets.org/target/ENSG00000006459/associations","note":"association with cancer (MONDO_0004992) 0.66;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:22224","ensembl":"ENSG00000006459","uniprot":"Q6ZMT4","entrez":"80853","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11214970/","biology":"Histone demethylase required for brain development. Specifically demethylates dimethylated 'Lys-9', 'Lys-27' and 'Lys-36' (H3K9me2, H3K27me2, H3K36me2, respectively) of histone H3 and monomethylated histone H4 'Lys-20' residue (H4K20Me1), thereby playing a central role in histone code. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: in presence of H3K4me3, it has no demethylase activity toward H3K9me2, while it has high activity toward H3K27me2. Demethylates H3K9me2 in absence of H3K4me3. Has activity toward H4K20Me1 only when nucleosome is used as a substrate and when not histone octamer is used as substrate. Location: Nucleus (UniProt). Locus 7q34 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"keap1","kind":"target","name":"KEAP1","aka":["kelch like ECH associated protein 1","Kelch-like ECH-associated protein 1","KIAA0132","MGC10630","MGC1114","MGC20887","MGC4407","MGC9454","INrf2","KLHL19"],"tldr":"KEAP1 (Kelch-like ECH-associated protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Hepatocellular carcinoma, Nasopharyngeal carcinoma and 3 more.","summary":"Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates the response to oxidative stress by targeting NFE2L2/NRF2 for ubiquitination. KEAP1 acts as a key sensor of oxidative and electrophilic stress: in normal conditions, the BCR(KEAP1) complex mediates ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes. In response to oxidative stress, different electrophile metabolites trigger non-enzymatic covalent modifications of highly reactive cysteine residues in KEAP1, leading to inactivate the ubiquitin ligase activity of the BCR(KEAP1) complex, promoting NFE2L2/NRF2 nuclear accumulation and expression of phase II detoxifying enzymes.\n\nCIViC holds 6 clinical evidence items and 0 assertions across 2 variants, naming Cisplatin/Pembrolizumab/Pemetrexed Regimen, Chemotherapy, Palliative Radiation Therapy and Durvalumab Regimen and others. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes clinical 0.14, literature 0.99, genetic association 0.18, somatic mutation 0.96, animal model 0.37). IntOGen calls it a driver in 14 cohorts (7 activating, 7 loss-of-function), covering Cholangiocarcinoma, Hepatocellular Carcinoma, Lung Adenocarcinoma, Lung Squamous Cell Carcinoma, Nasopharyngeal Carcinoma, Non-Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23177","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23177"},{"label":"UniProt Q14145","url":"https://www.uniprot.org/uniprotkb/Q14145/entry"},{"label":"NCBI Gene 9817","url":"https://www.ncbi.nlm.nih.gov/gene/9817"},{"label":"Ensembl ENSG00000079999","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000079999"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen","stk11-keap1-loss"],"cancers":["lung-cancer","hcc","nasopharyngeal","neuroendocrine","nsclc","cholangiocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hepatocellular-carcinoma-signalling","keap1-nrf2"],"terms":["stk11-keap1"],"trials":["nct05276726","nct06008093"],"people":[],"bottlenecks":[],"keyPapers":["paper-arbour-kras-co-mutation-outcomes-ccr-2018","paper-ricciuti-stk11-keap1-kras-immunotherapy-jto-2022"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.14; IntOGen calls it an activating (Act) driver in 7 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 7 cohorts; CIViC holds 6 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lung cancer: inactivated in 11 to 18% of adenocarcinomas and 10.1% of squamous tumours, with the squamous half of the pathway broken through NFE2L2 degron hotspots instead (cBioPortal). In 330 KRAS-mutant patients, KEAP1 or NFE2L2 co-mutation was the only independent predictor of shorter survival (hazard ratio 1.96), shortened the duration of first chemotherapy and shortened survival from the start of immunotherapy (3.54) (Arbour 2018). Its first effect is metabolic: releasing NRF2 switches on an antioxidant programme that supports growth under oxidative and radiation stress."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KEAP1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:23177","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23177","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14145","url":"https://www.uniprot.org/uniprotkb/Q14145/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KEAP1","url":"https://civicdb.org/features/7777","note":"6 evidence items, 0 assertions, 2 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000079999","url":"https://platform.opentargets.org/target/ENSG00000079999/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.69, neuroendocrine neoplasm 0.52, lung cancer 0.72 (GraphQL API, CC0)"},{"label":"IntOGen KEAP1","url":"https://www.intogen.org/search?gene=KEAP1","note":"driver in 14 cohorts (Act 7, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KEAP1: RNA tissue enhanced (skeletal muscle 171 nTPM); high antibody staining in 8 normal tissues; highest cancer staining colorectal cancer (1 of 9 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Hepatocellular carcinoma, Nasopharyngeal carcinoma, Neuroendocrine tumours, Biliary tract cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (lung adenocarcinoma, non-small cell lung carcinoma, squamous cell lung carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q14145","url":"https://www.uniprot.org/uniprotkb/Q14145/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KEAP1","url":"https://civicdb.org/features/7777","note":"6 evidence items, 0 assertions, 2 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen KEAP1","url":"https://www.intogen.org/search?gene=KEAP1","note":"driver in 14 cohorts (Act 7, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KEAP1 tissue","url":"https://www.proteinatlas.org/ENSG00000079999-KEAP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000079999 associations","url":"https://platform.opentargets.org/target/ENSG00000079999/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:23177","ensembl":"ENSG00000079999","uniprot":"Q14145","entrez":"9817","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1995, \"Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8590280/","biology":"Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates the response to oxidative stress by targeting NFE2L2/NRF2 for ubiquitination. KEAP1 acts as a key sensor of oxidative and electrophilic stress: in normal conditions, the BCR(KEAP1) complex mediates ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes. In response to oxidative stress, different electrophile metabolites trigger non-enzymatic covalent modifications of highly reactive cysteine residues in KEAP1, leading to inactivate the ubiquitin ligase activity of the BCR(KEAP1) complex, promoting NFE2L2/NRF2 nuclear accumulation and expression of phase II detoxifying enzymes. In response to selective autophagy, KEAP1 is sequestered in inclusion bodies following its interaction with SQSTM1/p62, leading to inactivation of the BCR(KEAP1) complex and activation of NFE2L2/NRF2. The BCR(KEAP1) complex also mediates ubiquitination of SQSTM1/p62, increasing SQSTM1/p62 sequestering activity and degradation. The BCR(KEAP1) complex also targets BPTF and PGAM5 for ubiquitination and degradation by the proteasome. Location: Cytoplasm; Nucleus (UniProt). Locus 19p13.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.72 with lung cancer (MONDO_0008903)","Hepatocellular carcinoma: IntOGen driver in 2 cohorts (HCC)","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Neuroendocrine tumours: Open Targets association 0.52 with neuroendocrine neoplasm (MONDO_0019496)","Non-small-cell lung cancer: Open Targets association 0.69 with non-small cell lung carcinoma (MONDO_0005233); CIViC evidence names this disease","Biliary tract cancer: IntOGen driver in 1 cohort (CHOL)","Non-small-cell lung cancer: inactivating mutation 11-18%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"nsclc","pct":"11-18","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal: 400 of 2,653, 15.1%, in luad_mskcc_2023_met_organotropism; 153 of 915, 16.7%, in lung_msk_2017; 102 of 566, 18.0%, in luad_tcga_pan_can_atlas_2018; 40 of 230, 17.4%, in luad_tcga_pub; 12 of 110, 10.9%, in luad_cptac_2020; 197 of 2,621, 7.5%, in nsclc_ctdx_msk_2022; 13 of 302, 4.3%, in luad_oncosg_2020; 1 of 232, 0.4%, in lung_nci_2022. In the immunotherapy cohort, 53 of 240, 22.1% (cBioPortal nsclc_pd1_msk_2018); deleterious KEAP1 mutations were 231 of 1,202 assessable patients, 19.2% (Ricciuti 2022)."}]},{"id":"mki67","kind":"target","name":"Ki-67 (MKI67)","aka":["Ki67","MIB-1","marker of proliferation Ki-67"],"tldr":"Ki-67 is a protein present only in cells that are dividing, so the share of tumour cells that stain for it is a direct read of how fast the cancer is growing.","summary":"MKI67 encodes a large nuclear protein expressed through the active phases of the cell cycle and absent in resting (G0) cells. The Ki-67 labelling index by immunohistochemistry (antibody MIB-1 on paraffin sections) grades neuroendocrine tumours in the WHO classification and is read in breast cancer as a proliferation marker; the abemaciclib adjuvant approval of 2021 used a Ki-67 score of at least 20 percent as an entry criterion before the label was broadened in 2023. It is a readout, not a drug target: no approved medicine binds Ki-67.","asOf":"2026-09-23","wikipedia":"https://en.wikipedia.org/wiki/Ki-67_(protein)","links":[{"label":"HGNC HGNC:7107","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7107"},{"label":"UniProt P46013","url":"https://www.uniprot.org/uniprotkb/P46013/entry"}],"tags":["biomarker-parent"],"related":["ki-67-index"],"cancers":["breast-hr-positive","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["net-grade-ki67","proliferation","ihc"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"MKI67","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MKI67: RNA group enriched (bone marrow 44 nTPM, lymphoid tissue 49 nTPM); high antibody staining in 5 normal tissues; highest cancer staining stomach cancer (9 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Neuroendocrine tumours); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MKI67 tissue","url":"https://www.proteinatlas.org/ENSG00000148773-MKI67/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000148773 associations","url":"https://platform.opentargets.org/target/ENSG00000148773/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7107","ensembl":"ENSG00000148773","uniprot":"P46013","entrez":"4288","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schlueter et al, J. Cell Biol, 1993, \"The cell proliferation-associated antigen of antibody Ki-67: a very large, ubiquitous nuclear protein with numerous repeated elements, representing a new kind of cell cycle-maintaining proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8227122/","biology":"Ki-67 coats the surface of mitotic chromosomes and keeps them from clumping; its level rises through S, G2 and M phase and falls to nothing in quiescent cells, which is why the stained fraction tracks proliferation.","whereFound":["Breast cancer (proliferation index)","Neuroendocrine tumours (WHO grade)","Lymphomas and gliomas (proliferation index)"],"targetClass":"other","prevalence":[]},{"id":"kiaa1549","kind":"target","name":"KIAA1549","aka":["UPF0606 protein KIAA1549"],"tldr":"KIAA1549 (UPF0606 protein KIAA1549) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"May play a role in photoreceptor function.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.25, affected pathway 0.89, genetic association 0.00, somatic mutation 0.50).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:22219","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22219"},{"label":"UniProt Q9HCM3","url":"https://www.uniprot.org/uniprotkb/Q9HCM3/entry"},{"label":"NCBI Gene 57670","url":"https://www.ncbi.nlm.nih.gov/gene/57670"},{"label":"Ensembl ENSG00000122778","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122778"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["firefly-1"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KIAA1549","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:22219","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22219","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HCM3","url":"https://www.uniprot.org/uniprotkb/Q9HCM3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000122778","url":"https://platform.opentargets.org/target/ENSG00000122778/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:22219","ensembl":"ENSG00000122778","uniprot":"Q9HCM3","entrez":"57670","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10997877/","biology":"May play a role in photoreceptor function. Location: Membrane; Cell projection, cilium (UniProt). Locus 7q34 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"kif23","kind":"target","name":"KIF23","aka":["kinesin family member 23","Kinesin-like protein KIF23","MKLP1","MKLP-1","KNSL5"],"tldr":"KIF23 (Kinesin-like protein KIF23) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma.","summary":"Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signalling required for the myosin contractile ring formation during the cell cycle cytokinesis. Essential for cytokinesis in Rho-mediated signalling. Required for the localisation of ECT2 to the central spindle.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6392","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6392"},{"label":"UniProt Q02241","url":"https://www.uniprot.org/uniprotkb/Q02241/entry"},{"label":"NCBI Gene 9493","url":"https://www.ncbi.nlm.nih.gov/gene/9493"},{"label":"Ensembl ENSG00000137807","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137807"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KIF23","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6392","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6392","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02241","url":"https://www.uniprot.org/uniprotkb/Q02241/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KIF23","url":"https://civicdb.org/features/7502","note":"1 evidence items, 0 assertions, 1 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists KIF23 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA KIF23: RNA tissue enhanced (bone marrow 20 nTPM, lymphoid tissue 15 nTPM); blood lineage group enriched (granulocytes 5 nTPM, monocytes 1 nTPM, T-cells 1 nTPM); no normal tissue stained high; highest cancer staining lymphoma (10 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas KIF23 tissue","url":"https://www.proteinatlas.org/ENSG00000137807-KIF23/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137807 associations","url":"https://platform.opentargets.org/target/ENSG00000137807/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6392","ensembl":"ENSG00000137807","uniprot":"Q02241","entrez":"9493","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nislow et al, Nature, 1992, \"A plus-end-directed motor enzyme that moves antiparallel microtubules in vitro localizes to the interzone of mitotic spindles\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1406973/","biology":"Component of the centralspindlin complex that serves as a microtubule-dependent and Rho-mediated signalling required for the myosin contractile ring formation during the cell cycle cytokinesis. Essential for cytokinesis in Rho-mediated signalling. Required for the localisation of ECT2 to the central spindle. Plus-end-directed motor enzyme that moves antiparallel microtubules in vitro. Location: Nucleus; Cytoplasm, cytoskeleton, spindle; Midbody, Midbody ring; Midbody (UniProt). Locus 15q23 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"kif5b","kind":"target","name":"KIF5B","aka":["kinesin family member 5B","Kinesin-1 heavy chain","uKHC","KNS1"],"tldr":"KIF5B (Kinesin-1 heavy chain) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target and an oncogene driver, and an approved or late-stage drug is recorded against it. Tied to Lung cancer, Thyroid cancer, Neuroendocrine tumours and 2 more.","summary":"Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. Regulates centrosome and nuclear positioning during mitotic entry.\n\nOpen Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes clinical 0.97, affected pathway 0.93, literature 0.91, genetic association 0.00, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Head and Neck Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6324","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6324"},{"label":"UniProt P33176","url":"https://www.uniprot.org/uniprotkb/P33176/entry"},{"label":"NCBI Gene 3799","url":"https://www.ncbi.nlm.nih.gov/gene/3799"},{"label":"Ensembl ENSG00000170759","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170759"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","thyroid","neuroendocrine","head-and-neck","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97; IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KIF5B","role":["drug-target","oncogene-driver"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6324","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6324","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P33176","url":"https://www.uniprot.org/uniprotkb/P33176/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000170759","url":"https://platform.opentargets.org/target/ENSG00000170759/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.72, thyroid cancer 0.64, neuroendocrine neoplasm 0.63, lung cancer 0.73 (GraphQL API, CC0)"},{"label":"IntOGen KIF5B","url":"https://www.intogen.org/search?gene=KIF5B","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KIF5B: RNA low tissue specificity; high antibody staining in 19 normal tissues; highest cancer staining pancreatic cancer (7 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Thyroid cancer, Neuroendocrine tumours, Head and neck squamous cell carcinoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (non-small cell lung carcinoma, medullary thyroid gland carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P33176","url":"https://www.uniprot.org/uniprotkb/P33176/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen KIF5B","url":"https://www.intogen.org/search?gene=KIF5B","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KIF5B tissue","url":"https://www.proteinatlas.org/ENSG00000170759-KIF5B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000170759 associations","url":"https://platform.opentargets.org/target/ENSG00000170759/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6324","ensembl":"ENSG00000170759","uniprot":"P33176","entrez":"3799","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Navone et al, J. Cell Biol, 1992, \"Cloning and expression of a human kinesin heavy chain gene: interaction of the COOH-terminal domain with cytoplasmic microtubules in transfected CV-1 cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1607388/","biology":"Microtubule-dependent motor required for normal distribution of mitochondria and lysosomes. Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. Regulates centrosome and nuclear positioning during mitotic entry. During the G2 phase of the cell cycle in a BICD2-dependent manner, antagonises dynein function and drives the separation of nuclei and centrosomes. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation. Through binding with PLEKHM2 and ARL8B, directs lysosome movement toward microtubule plus ends. Location: Cytoplasm, cytoskeleton; Cytolytic granule membrane; Lysosome membrane (UniProt). Locus 10p11.22 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.73 with lung cancer (MONDO_0008903)","Thyroid cancer: Open Targets association 0.64 with thyroid cancer (MONDO_0002108)","Neuroendocrine tumours: Open Targets association 0.63 with neuroendocrine neoplasm (MONDO_0019496)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Non-small-cell lung cancer: Open Targets association 0.72 with non-small cell lung carcinoma (MONDO_0005233)"],"targetClass":"oncogene","prevalence":[]},{"id":"kir2dl1","kind":"target","name":"KIR2DL1 (inhibitory KIR)","aka":["KIR","CD158a","p58.1","KIR2DL2","KIR2DL3","CD158b"],"tldr":"Inhibitory KIRs are the receptors NK cells use to recognise a person's own HLA-C and stand down. Lirilumab, an antibody that blocks three of them, reached phase 2 but was dropped for blood cancers.","summary":"KIR2DL1 (chromosome 19q13.42) is a receptor on NK cells for HLA-C alleles such as Cw4 and Cw6 that inhibits NK activity and so prevents lysis of the cell it recognises (UniProt P43626); KIR2DL3 does the same for HLA-Cw1, Cw3 and Cw7 (UniProt P43628). Lirilumab, an antibody against KIR2DL1, KIR2DL2 and KIR2DL3, was tested in phase 1/2 with nivolumab in solid tumours (NCT01714739); enrolment in myelodysplastic syndromes stopped after the sponsor decided not to pursue lirilumab for myeloid malignancies (NCT02599649), and a relapsed AML study ended because response rates did not reach the anticipated minimum of 30 percent (NCT02399917).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:6329","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6329"},{"label":"UniProt P43626","url":"https://www.uniprot.org/uniprotkb/P43626/entry"},{"label":"NCBI Gene 3802","url":"https://www.ncbi.nlm.nih.gov/gene/3802"},{"label":"ClinicalTrials.gov NCT02599649","url":"https://clinicaltrials.gov/study/NCT02599649"}],"tags":["checkpoint-map"],"related":["klrc1","nk-cell","nivolumab"],"cancers":["mds","aml"],"sections":[],"technologies":["checkpoint-inhibitor"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"KIR2DL1","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:6329","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6329","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P43626","url":"https://www.uniprot.org/uniprotkb/P43626/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:6329","ensembl":"ENSG00000125498","uniprot":"P43626","entrez":"3802","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Colonna et al, Science, 1995, \"Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7716543/","biology":"Immunoglobulin-like receptors with long cytoplasmic tails (2DL, 3DL) inhibit through ITIMs; short-tailed KIRs activate. This record stands for the inhibitory KIR2DL group the antibody binds.","whereFound":["NK cells (UniProt P43626)","Myelodysplastic syndromes and acute myeloid leukaemia trials of lirilumab (terminated)"],"targetClass":"checkpoint","prevalence":[]},{"id":"kit","kind":"target","name":"KIT","aka":[],"tldr":"KIT mutation is the driver behind most gastrointestinal stromal tumours, and the reason imatinib turned a sarcoma with a median survival of about a year into a chronic disease.","summary":"KIT is the receptor tyrosine kinase for stem-cell factor, and activating mutations in it drive roughly 75 to 80 percent of gastrointestinal stromal tumours (GIST), with PDGFRA mutations accounting for about 10 percent more. Imatinib turned a sarcoma with a median survival of about a year into a chronic disease, and sunitinib, regorafenib, ripretinib and avapritinib (for PDGFRA D842V) form the sequence used as resistance mutations accumulate. KIT is also a target in systemic mastocytosis and is mutated in 2 to 3 percent of melanomas, enriched in acral and mucosal subtypes. Resistance arises through secondary KIT mutations that differ between patients, so later-line choice increasingly depends on the specific mutation. The plain version: KIT mutation is the driver behind most GIST, and blocking it is one of the clearest success stories of targeted therapy.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/CD117","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/CD117"}],"tags":["driver","kinase"],"related":["kit-d816v"],"cancers":["sarcoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["bezuclastinib","al2846","chiauranib"],"companies":["blueprint-medicines","cogent-biosciences"],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","aml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"KIT","role":[],"sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (KIT D816V) absent from normal cells. HPA KIT: RNA tissue enhanced (breast 79 nTPM); blood lineage group enriched (granulocytes 16 nTPM, NK-cells 11 nTPM); high antibody staining in 2 normal tissues; highest cancer staining testis cancer (3 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Skin cancer (all types), Myeloid neoplasms); approvals of single-target medicines aimed at it also list Leukaemia, not counted; Open Targets associates it with 17 specific cancer types at or above 0.5 (gastrointestinal stromal tumor, cutaneous mastocytosis, acute myeloid leukemia, chronic myeloid leukemia, hepatocellular carcinoma, mastocytosis and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"KIT D816V label threshold","url":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools","note":"D816V absent or unknown (negative selector for imatinib)"},{"label":"Human Protein Atlas KIT tissue","url":"https://www.proteinatlas.org/ENSG00000157404-KIT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157404 associations","url":"https://platform.opentargets.org/target/ENSG00000157404/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6342","ensembl":"ENSG00000157404","uniprot":"P10721","entrez":"3815","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yarden et al, EMBO J, 1987, \"Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2448137/","biology":"Stem-cell factor receptor tyrosine kinase.","whereFound":["GIST","Mastocytosis","Melanoma (mucosal/acral, rare)"],"targetClass":"kinase","prevalence":[{"cancerId":"sarcoma","pct":"75-80","measure":"GIST KIT mutation","source":"https://en.wikipedia.org/wiki/CD117","note":"PDGFRA in ~10%"},{"cancerId":"melanoma","pct":"2-3","measure":"KIT mutation (acral/mucosal enriched)","source":"https://www.cbioportal.org/study/summary?id=skcm_tcga_pan_can_atlas_2018"}]},{"id":"kitlg","kind":"target","name":"KITLG","aka":["KIT ligand","Kit ligand","Kitl","KL-1","FPH2","DFNA69"],"tldr":"KITLG (Kit ligand) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Testicular germ cell tumours.","summary":"Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, haematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signalling pathways.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.61, animal model 0.55, genetic association 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6343","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6343"},{"label":"UniProt P21583","url":"https://www.uniprot.org/uniprotkb/P21583/entry"},{"label":"NCBI Gene 4254","url":"https://www.ncbi.nlm.nih.gov/gene/4254"},{"label":"Ensembl ENSG00000049130","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000049130"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["testicular"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KITLG","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6343","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6343","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P21583","url":"https://www.uniprot.org/uniprotkb/P21583/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000049130","url":"https://platform.opentargets.org/target/ENSG00000049130/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: testicular cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6343","ensembl":"ENSG00000049130","uniprot":"P21583","entrez":"4254","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Martin F.H. et al, Cell, 1990, \"Primary structure and functional expression of rat and human stem cell factor DNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2208279/","biology":"Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, haematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. KITLG/SCF binding can activate several signalling pathways. Promotes phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and subsequent activation of the kinase AKT1. KITLG/SCF and KIT also transmit signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. KITLG/SCF and KIT promote activation of STAT family members STAT1, STAT3 and STAT5. Location: Cell membrane; Cytoplasm; Cytoplasm, cytoskeleton; Cell projection, lamellipodium (UniProt). Locus 12q21.32 (HGNC).","whereFound":["Testicular germ cell tumours: Open Targets association 0.51 with testicular cancer (MONDO_0005447)"],"targetClass":"other","prevalence":[]},{"id":"klc1","kind":"target","name":"KLC1","aka":["kinesin light chain 1","Kinesin light chain 1","KNS2A","hKLC1S","hKLC1N","hKLC1P","hKLC1G","hKLC1R","hKLC1J","hKLC1B","KNS2"],"tldr":"KLC1 (Kinesin light chain 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.90, affected pathway 0.76, genetic association 0.38).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6387","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6387"},{"label":"UniProt Q07866","url":"https://www.uniprot.org/uniprotkb/Q07866/entry"},{"label":"NCBI Gene 3831","url":"https://www.ncbi.nlm.nih.gov/gene/3831"},{"label":"Ensembl ENSG00000126214","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126214"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLC1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6387","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6387","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q07866","url":"https://www.uniprot.org/uniprotkb/Q07866/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000126214","url":"https://platform.opentargets.org/target/ENSG00000126214/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6387","ensembl":"ENSG00000126214","uniprot":"Q07866","entrez":"3831","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cabeza-Arvelaiz et al, DNA Cell Biol, 1993, \"Cloning and genetic characterization of the human kinesin light-chain (KLC) gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8274221/","biology":"Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity. Location: Cell projection, growth cone; Cytoplasmic vesicle; Cytoplasm, cytoskeleton (UniProt). Locus 14q32.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"klf2","kind":"target","name":"KLF2","aka":["KLF transcription factor 2","Krueppel-like factor 2"],"tldr":"KLF2 (Krueppel-like factor 2) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Transcription factor that binds to the CACCC box in the promoter of target genes such as HBB/beta globin or NOV and activates their transcription. Might be involved in transcriptional regulation by modulating the binding of the RARA nuclear receptor to RARE DNA elements.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6347","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6347"},{"label":"UniProt Q9Y5W3","url":"https://www.uniprot.org/uniprotkb/Q9Y5W3/entry"},{"label":"NCBI Gene 10365","url":"https://www.ncbi.nlm.nih.gov/gene/10365"},{"label":"Ensembl ENSG00000127528","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127528"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLF2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6347","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6347","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y5W3","url":"https://www.uniprot.org/uniprotkb/Q9Y5W3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KLF2","url":"https://civicdb.org/features/8253","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000127528","url":"https://platform.opentargets.org/target/ENSG00000127528/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA KLF2: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining melanoma (1 of 9 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas KLF2 tissue","url":"https://www.proteinatlas.org/ENSG00000127528-KLF2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000127528 associations","url":"https://platform.opentargets.org/target/ENSG00000127528/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6347","ensembl":"ENSG00000127528","uniprot":"Q9Y5W3","entrez":"10365","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kozyrev S.V. et al, FEBS Lett, 1999, \"Structure of the human CpG-island-containing lung Kruppel-like factor (LKLF) gene and its location in chromosome 19p13.11-13 locus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10217429/","biology":"Transcription factor that binds to the CACCC box in the promoter of target genes such as HBB/beta globin or NOV and activates their transcription. Might be involved in transcriptional regulation by modulating the binding of the RARA nuclear receptor to RARE DNA elements. Location: Nucleus (UniProt). Locus 19p13.11 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"klf4","kind":"target","name":"KLF4","aka":["KLF transcription factor 4","Krueppel-like factor 4"],"tldr":"KLF4 (Krueppel-like factor 4) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Hepatocellular carcinoma, Skin cancer and 3 more.","summary":"Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 1.00, animal model 0.47, genetic association 0.57, somatic mutation 0.82). IntOGen calls it a driver in 5 cohorts (3 activating, 1 loss-of-function), covering Acute Lymphoblastic Leukaemia, Invasive Breast Carcinoma, Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6348","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6348"},{"label":"UniProt O43474","url":"https://www.uniprot.org/uniprotkb/O43474/entry"},{"label":"NCBI Gene 9314","url":"https://www.ncbi.nlm.nih.gov/gene/9314"},{"label":"Ensembl ENSG00000136826","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136826"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","hcc","skin-cancer","prostate","all-leukemia","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLF4","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6348","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6348","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43474","url":"https://www.uniprot.org/uniprotkb/O43474/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KLF4","url":"https://civicdb.org/features/7356","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000136826","url":"https://platform.opentargets.org/target/ENSG00000136826/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: prostate cancer 0.50, melanoma 0.51, skin cancer 0.51, breast cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen KLF4","url":"https://www.intogen.org/search?gene=KLF4","note":"driver in 5 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KLF4: RNA tissue enhanced (skin 1 186 nTPM); high antibody staining in 13 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Hepatocellular carcinoma, Skin cancer (all types), Prostate cancer, Leukaemia); Open Targets associates it with 3 specific cancer types at or above 0.5 (breast carcinoma, cutaneous melanoma, prostate carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O43474","url":"https://www.uniprot.org/uniprotkb/O43474/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KLF4","url":"https://civicdb.org/features/7356","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen KLF4","url":"https://www.intogen.org/search?gene=KLF4","note":"driver in 5 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KLF4 tissue","url":"https://www.proteinatlas.org/ENSG00000136826-KLF4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136826 associations","url":"https://platform.opentargets.org/target/ENSG00000136826/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6348","ensembl":"ENSG00000136826","uniprot":"O43474","entrez":"9314","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Garrett-Sinha L.A. et al, 1996.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/O43474/entry","biology":"Transcription factor; can act both as activator and as repressor. Binds the 5'-CACCC-3' core sequence. Binds to the promoter region of its own gene and can activate its own transcription. Regulates the expression of key transcription factors during embryonic development. Plays an important role in maintaining embryonic stem cells, and in preventing their differentiation. Required for establishing the barrier function of the skin and for postnatal maturation and maintenance of the ocular surface. Location: Nucleus; Cytoplasm (UniProt). Locus 9q31.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254); IntOGen driver in 3 cohorts (BRCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Prostate cancer: Open Targets association 0.50 with prostate cancer (MONDO_0008315)","Acute lymphoblastic leukaemia: IntOGen driver in 1 cohort (ALL)","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"klf5","kind":"target","name":"KLF5","aka":["KLF transcription factor 5","Krueppel-like factor 5","BTEB2"],"tldr":"KLF5 (Krueppel-like factor 5) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Cervical cancer, Colorectal cancer and 1 more.","summary":"Transcription factor that binds to GC box promoter elements. Activates the transcription of these genes.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes affected pathway 0.44, literature 0.99, genetic association 0.70, somatic mutation 0.80, animal model 0.46). IntOGen calls it a driver in 3 cohorts (2 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma, Cervical Squamous Cell Carcinoma, Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6349","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6349"},{"label":"UniProt Q13887","url":"https://www.uniprot.org/uniprotkb/Q13887/entry"},{"label":"NCBI Gene 688","url":"https://www.ncbi.nlm.nih.gov/gene/688"},{"label":"Ensembl ENSG00000102554","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102554"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","cervical","colorectal","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLF5","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6349","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6349","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13887","url":"https://www.uniprot.org/uniprotkb/Q13887/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KLF5","url":"https://civicdb.org/features/634","note":"2 evidence items, 0 assertions, 2 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000102554","url":"https://platform.opentargets.org/target/ENSG00000102554/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen KLF5","url":"https://www.intogen.org/search?gene=KLF5","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KLF5: RNA tissue enhanced (esophagus 227 nTPM, skin 1 222 nTPM); blood lineage lineage enriched (granulocytes 24 nTPM); high antibody staining in 10 normal tissues; highest cancer staining urothelial cancer (3 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Cervical cancer, Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (prostate carcinoma, colorectal cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q13887","url":"https://www.uniprot.org/uniprotkb/Q13887/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KLF5","url":"https://civicdb.org/features/634","note":"2 evidence items, 0 assertions, 2 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen KLF5","url":"https://www.intogen.org/search?gene=KLF5","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KLF5 tissue","url":"https://www.proteinatlas.org/ENSG00000102554-KLF5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000102554 associations","url":"https://platform.opentargets.org/target/ENSG00000102554/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6349","ensembl":"ENSG00000102554","uniprot":"Q13887","entrez":"688","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sogawa et al, Nucleic Acids Res, 1993, \"cDNA cloning and transcriptional properties of a novel GC box-binding protein, BTEB2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8479902/","biology":"Transcription factor that binds to GC box promoter elements. Activates the transcription of these genes. Location: Nucleus (UniProt). Locus 13q22.1 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Cervical cancer: IntOGen driver in 1 cohort (CESC)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"transcription","prevalence":[]},{"id":"klf6","kind":"target","name":"KLF6","aka":["KLF transcription factor 6","Krueppel-like factor 6","Zf9","PAC1","BCD1","ST12","COPEB"],"tldr":"KLF6 (Krueppel-like factor 6) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Skin cancer and Melanoma.","summary":"Transcriptional activator. Binds a GC box motif. Could play a role in B-cell growth and development.\n\nOpen Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.24, somatic mutation 0.93, genetic literature 0.76). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2235","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2235"},{"label":"UniProt Q99612","url":"https://www.uniprot.org/uniprotkb/Q99612/entry"},{"label":"NCBI Gene 1316","url":"https://www.ncbi.nlm.nih.gov/gene/1316"},{"label":"Ensembl ENSG00000067082","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000067082"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLF6","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2235","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2235","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99612","url":"https://www.uniprot.org/uniprotkb/Q99612/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000067082","url":"https://platform.opentargets.org/target/ENSG00000067082/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: prostate cancer 0.62, melanoma 0.58, skin cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen KLF6","url":"https://www.intogen.org/search?gene=KLF6","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2235","ensembl":"ENSG00000067082","uniprot":"Q99612","entrez":"1316","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: El Rouby et al, Oncogene, 1996, \"Identification of Bcd, a novel proto-oncogene expressed in B-cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9000136/","biology":"Transcriptional activator. Binds a GC box motif. Could play a role in B-cell growth and development. Location: Nucleus (UniProt). Locus 10p15.2 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.62 with prostate cancer (MONDO_0008315)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.58 with melanoma (MONDO_0005105); IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"klhdc8b","kind":"target","name":"KLHDC8B","aka":["kelch domain containing 8B","Kelch domain-containing protein 8B","MGC35097"],"tldr":"KLHDC8B (Kelch domain-containing protein 8B) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Hodgkin lymphoma.","summary":"Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis. Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28557","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28557"},{"label":"UniProt Q8IXV7","url":"https://www.uniprot.org/uniprotkb/Q8IXV7/entry"},{"label":"NCBI Gene 200942","url":"https://www.ncbi.nlm.nih.gov/gene/200942"},{"label":"Ensembl ENSG00000185909","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185909"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLHDC8B","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:28557","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28557","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IXV7","url":"https://www.uniprot.org/uniprotkb/Q8IXV7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000185909","url":"https://platform.opentargets.org/target/ENSG00000185909/associations","note":"per-cancer scores at or above 0.5: Hodgkins lymphoma 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:28557","ensembl":"ENSG00000185909","uniprot":"Q8IXV7","entrez":"200942","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wan et al, Proc. Natl. Acad. Sci. U.S.A, 2004, \"Large-scale cDNA transfection screening for genes related to cancer development and progression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15498874/","biology":"Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis. Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification, micronucleus formation and aneuploidy. Plays a key role of midbody function involving abscission of the daughter cells during cytokinesis and appropriate chromosomal and nuclear segregation into the daughter cells. Location: Cytoplasm; Midbody (UniProt). Locus 3p21.31 (HGNC).","whereFound":["Hodgkin lymphoma: Open Targets association 0.55 with Hodgkins lymphoma (MONDO_0004952)"],"targetClass":"other","prevalence":[]},{"id":"klhl14","kind":"target","name":"KLHL14","aka":["kelch like family member 14","Kelch-like protein 14","KIAA1384"],"tldr":"KLHL14 (Kelch-like protein 14) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"UniProt has no function text for Q9P2G3; HGNC names it \"kelch like family member 14\".\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29266","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29266"},{"label":"UniProt Q9P2G3","url":"https://www.uniprot.org/uniprotkb/Q9P2G3/entry"},{"label":"NCBI Gene 57565","url":"https://www.ncbi.nlm.nih.gov/gene/57565"},{"label":"Ensembl ENSG00000197705","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197705"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLHL14","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29266","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29266","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9P2G3","url":"https://www.uniprot.org/uniprotkb/Q9P2G3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KLHL14","url":"https://civicdb.org/features/13880","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KLHL14: RNA tissue enhanced (lymphoid tissue 8 nTPM, seminal vesicle 12 nTPM, thyroid gland 13 nTPM); blood lineage lineage enriched (B-cells 11 nTPM); no normal tissue stained high; highest cancer staining melanoma (11 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KLHL14 tissue","url":"https://www.proteinatlas.org/ENSG00000197705-KLHL14/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197705 associations","url":"https://platform.opentargets.org/target/ENSG00000197705/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29266","ensembl":"ENSG00000197705","uniprot":"Q9P2G3","entrez":"57565","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10718198/","biology":"UniProt has no function text for Q9P2G3; HGNC names it \"kelch like family member 14\". Location: Cytoplasm, cytosol; Endoplasmic reticulum membrane (UniProt). Locus 18q12.1 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"klhl6","kind":"target","name":"KLHL6","aka":["kelch like family member 6","Kelch-like protein 6","FLJ00029"],"tldr":"KLHL6 (Kelch-like protein 6) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma and Diffuse large B-cell lymphoma.","summary":"Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a multifunctional regulator of B-cell receptor (BCR) signalling, germinal centre formation, and T-cell function. Functions by mediating polyubiquitination of target proteins, leading to their proteasomal degradation. In B-cells, plays an essential role in BCR signalling and germinal centre B-cell maturation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18653","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18653"},{"label":"UniProt Q8WZ60","url":"https://www.uniprot.org/uniprotkb/Q8WZ60/entry"},{"label":"NCBI Gene 89857","url":"https://www.ncbi.nlm.nih.gov/gene/89857"},{"label":"Ensembl ENSG00000172578","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172578"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["non-hodgkin-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLHL6","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18653","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18653","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WZ60","url":"https://www.uniprot.org/uniprotkb/Q8WZ60/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KLHL6","url":"https://civicdb.org/features/16661","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen KLHL6","url":"https://www.intogen.org/search?gene=KLHL6","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KLHL6: RNA tissue enriched (lymphoid tissue 29 nTPM); no normal tissue stained high; highest cancer staining lymphoma (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q8WZ60","url":"https://www.uniprot.org/uniprotkb/Q8WZ60/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KLHL6","url":"https://civicdb.org/features/16661","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen KLHL6","url":"https://www.intogen.org/search?gene=KLHL6","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KLHL6 tissue","url":"https://www.proteinatlas.org/ENSG00000172578-KLHL6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000172578 associations","url":"https://platform.opentargets.org/target/ENSG00000172578/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18653","ensembl":"ENSG00000172578","uniprot":"Q8WZ60","entrez":"89857","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gupta-Rossi et al, Mol. Immunol, 2003, \"Specific over-expression of deltex and a new Kelch-like protein in human germinal center B cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12617994/","biology":"Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a multifunctional regulator of B-cell receptor (BCR) signalling, germinal centre formation, and T-cell function. Functions by mediating polyubiquitination of target proteins, leading to their proteasomal degradation. In B-cells, plays an essential role in BCR signalling and germinal centre B-cell maturation. Targets the BCR signalling subunits CD79A and CD79B for ubiquitin-mediated degradation, thereby controlling surface BCR homeostasis. Mediates polyubiquitination and degradation of the mRNA decay factor roquin-2/RC3H2, which in turn allows accumulation of TNFAIP3, a negative regulator of NF-kappa-B signalling, thereby providing feedback inhibition of BCR-induced NF-kappa-B activation. In T-cells, acts as a dual negative regulator of T-cell exhaustion and mitochondrial dysfunction. Location: Cytoplasm (UniProt). Locus 3q27.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 2 cohorts (MLYM, NHL)","Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"klk2","kind":"target","name":"KLK2 (kallikrein-2)","aka":[],"tldr":"A relative of PSA that stays attached to prostate cancer cells, used as a T-cell engager address by J&J.","summary":"Human kallikrein-2 (KLK2) is an androgen-regulated serine protease that activates PSA; unlike PSA it is retained on the prostate cell membrane, which makes it a usable address for cell-surface therapies. Expression is nearly universal in prostate cancer and prostate-restricted elsewhere, so a KLK2-directed drug can engage T cells against the tumour with little on-target damage to other tissues. The lead agent is Johnson & Johnson's pasritamig (JNJ-78278343, a KLK2 x CD3 bispecific), which showed low cytokine release and PSA responses in phase 1 and is in phase 3 (KLK2-P3-01) in metastatic castration-resistant prostate cancer. Open questions are whether KLK2 expression persists in neuroendocrine or AR-independent disease and how it compares with PSMA as an engager target. The plain version: KLK2 is a cousin of PSA that stays stuck to cancer cells, so drugs can grab it.","asOf":"2026-09-06","wikipedia":"https://en.wikipedia.org/wiki/KLK2","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/KLK2"}],"tags":["t-cell-engager-target"],"related":[],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["pasritamig"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: no peer-reviewed KLK2 expression series with a stated denominator was found for prostate cancer; 'nearly universal' rests on KLK2 being an androgen-regulated, prostate-restricted gene rather than on a published positivity rate."],"symbol":"KLK2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (Pasritamig) aim at the antigen, which HPA finds stained high in 1 normal tissue; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA KLK2: RNA tissue enriched (prostate 531 nTPM); high antibody staining in 1 normal tissue; highest cancer staining prostate cancer (8 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas KLK2 tissue","url":"https://www.proteinatlas.org/ENSG00000167751-KLK2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas KLK2 pathology","url":"https://www.proteinatlas.org/ENSG00000167751-KLK2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167751 associations","url":"https://platform.opentargets.org/target/ENSG00000167751/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6363","ensembl":"ENSG00000167751","uniprot":"P20151","entrez":"3817","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schedlich L.J. et al, DNA, 1987, \"Primary structure of a human glandular kallikrein gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2824146/","biology":"Serine protease activating PSA; androgen-regulated.","whereFound":["Prostate cancer (nearly universal)"],"targetClass":"surface-antigen","prevalence":[]},{"id":"klk3","kind":"target","name":"KLK3","aka":["kallikrein related peptidase 3","Prostate-specific antigen"],"tldr":"KLK3 (Prostate-specific antigen) is an enzyme. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Hydrolyses semenogelin-1 thus leading to the liquefaction of the seminal coagulum.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 1.00, genetic association 0.74, clinical 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6364","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6364"},{"label":"UniProt P07288","url":"https://www.uniprot.org/uniprotkb/P07288/entry"},{"label":"NCBI Gene 354","url":"https://www.ncbi.nlm.nih.gov/gene/354"},{"label":"Ensembl ENSG00000142515","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142515"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate","prostate-mcrpc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["prostate-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.61. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Prostate cancer: the gene for prostate-specific antigen, an androgen receptor target gene, which is why PSA tracks receptor output rather than tumour bulk, and why it can stop tracking the disease altogether once a tumour leaves androgen receptor dependence."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLK3","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6364","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6364","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P07288","url":"https://www.uniprot.org/uniprotkb/P07288/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000142515","url":"https://platform.opentargets.org/target/ENSG00000142515/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: prostate cancer 0.67 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KLK3: RNA tissue enriched (prostate 7,518 nTPM); high antibody staining in 1 normal tissue; highest cancer staining prostate cancer (8 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (prostate cancer, prostate carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KLK3 tissue","url":"https://www.proteinatlas.org/ENSG00000142515-KLK3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000142515 associations","url":"https://platform.opentargets.org/target/ENSG00000142515/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6364","ensembl":"ENSG00000142515","uniprot":"P07288","entrez":"354","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Watt K.W.K. et al, Proc. Natl. Acad. Sci. U.S.A, 1986, \"Human prostate-specific antigen: structural and functional similarity with serine proteases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2422647/","biology":"Hydrolyses semenogelin-1 thus leading to the liquefaction of the seminal coagulum. Location: Secreted (UniProt). Locus 19q13.33 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.67 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"klln","kind":"target","name":"KLLN","aka":["killin, p53 regulated DNA replication inhibitor","Killin","killin"],"tldr":"KLLN (Killin) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer and Renal cell carcinoma.","summary":"DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:37212","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:37212"},{"label":"UniProt B2CW77","url":"https://www.uniprot.org/uniprotkb/B2CW77/entry"},{"label":"NCBI Gene 100144748","url":"https://www.ncbi.nlm.nih.gov/gene/100144748"},{"label":"Ensembl ENSG00000227268","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000227268"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer","rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KLLN","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:37212","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:37212","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt B2CW77","url":"https://www.uniprot.org/uniprotkb/B2CW77/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KLLN","url":"https://civicdb.org/features/32083","note":"2 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer, Renal Cell Carcinoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA KLLN: RNA tissue enhanced (skeletal muscle 4 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Renal cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas KLLN tissue","url":"https://www.proteinatlas.org/ENSG00000227268-KLLN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000227268 associations","url":"https://platform.opentargets.org/target/ENSG00000227268/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:37212","ensembl":"ENSG00000227268","uniprot":"B2CW77","entrez":"100144748","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deloukas et al, Nature, 2004, \"The DNA sequence and comparative analysis of human chromosome 10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15164054/","biology":"DNA-binding protein involved in S phase checkpoint control-coupled apoptosis by mediating p53/TP53-induced apoptosis. Has the ability to inhibit DNA synthesis and S phase arrest coupled to apoptosis. Has affinity to both double- and single-stranded DNA. Location: Nucleus (UniProt). Locus 10q23 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","Renal cell carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"kmt2a","kind":"target","name":"KMT2A (MLL) rearrangement","aka":["KMT2A rearrangement","KMT2A-rearranged","KMT2A-r","KMT2Ar","KMT2A fusion","MLL-rearranged","MLL rearrangement","MLLr","MLL-r","11q23 rearrangement","KMT2A partner gene"],"tldr":"A gene fusion that drives an aggressive leukaemia in infants and adults. It cannot be blocked directly, but the scaffold protein it depends on (menin) can.","summary":"KMT2A (formerly MLL) rearrangements with >80 partner genes occur in ~5-10% of adult AML (higher in therapy-related AML), ~80% of infant ALL, and a subset of adult B-ALL. The fusion protein needs menin to bind chromatin and sustain HOXA9/MEIS1 expression. Menin inhibitors revumenib (approved 2024) and ziftomenib (in trials for KMT2Ar) release the differentiation block. Resistance emerges through MEN1 mutations at the drug-binding site.","asOf":"2026-09-07","wikipedia":"https://en.wikipedia.org/wiki/KMT2A","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/KMT2A"}],"tags":["driver","fusion"],"related":["menin"],"cancers":["aml","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":["revumenib","ziftomenib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"KMT2A","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 3 medicines aimed at it (Revumenib, Ziftomenib, Etoposide) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA KMT2A: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); approvals of single-target medicines aimed at it also list Testicular germ cell tumours, Lung cancer (all types), Sarcomas (soft tissue, bone, GIST), Lymphoma and more, not counted; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas KMT2A tissue","url":"https://www.proteinatlas.org/ENSG00000118058-KMT2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118058 associations","url":"https://platform.opentargets.org/target/ENSG00000118058/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7132","ensembl":"ENSG00000118058","uniprot":"Q03164","entrez":"4297","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tkachuk D.C. et al, Cell, 1992, \"Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1423624/","biology":"Histone H3K4 methyltransferase; fusions lose the SET domain and gain partner-driven transcriptional elongation activity. Menin binds the N-terminus and is required for leukaemogenesis.","whereFound":["Infant ALL (~80%)","Adult AML (5-10%; therapy-related after topoisomerase II inhibitors)","Adult B-ALL (KMT2A::AFF1)","Mixed-phenotype acute leukaemia"],"targetClass":"transcription","prevalence":[{"cancerId":"aml","pct":"5-10","measure":"rearrangement","note":"Higher in therapy-related AML"},{"cancerId":"all-leukemia","pct":"~80 in infants; 5-10 in adults","measure":"rearrangement"}]},{"id":"kmt2b","kind":"target","name":"KMT2B","aka":["lysine methyltransferase 2B","Histone-lysine N-methyltransferase 2B","KIAA0304","MLL2","TRX2","HRX2","WBP7","MLL1B","MLL4","CXXC10"],"tldr":"KMT2B (Histone-lysine N-methyltransferase 2B) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma, Vulvar cancer, Melanoma and 1 more.","summary":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place. Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Immune Checkpoint Inhibitor. IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Hepatocellular Carcinoma, Vulva/Vagina.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15840","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15840"},{"label":"UniProt Q9UMN6","url":"https://www.uniprot.org/uniprotkb/Q9UMN6/entry"},{"label":"NCBI Gene 9757","url":"https://www.ncbi.nlm.nih.gov/gene/9757"},{"label":"Ensembl ENSG00000272333","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000272333"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["hcc","vulvar","melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KMT2B","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:15840","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15840","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UMN6","url":"https://www.uniprot.org/uniprotkb/Q9UMN6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KMT2B","url":"https://civicdb.org/features/7725","note":"2 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen KMT2B","url":"https://www.intogen.org/search?gene=KMT2B","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KMT2B: RNA low tissue specificity; no normal tissue stained high. Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma, Vulvar cancer, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UMN6","url":"https://www.uniprot.org/uniprotkb/Q9UMN6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KMT2B","url":"https://civicdb.org/features/7725","note":"2 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen KMT2B","url":"https://www.intogen.org/search?gene=KMT2B","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KMT2B tissue","url":"https://www.proteinatlas.org/ENSG00000272333-KMT2B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000272333 associations","url":"https://platform.opentargets.org/target/ENSG00000272333/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:15840","ensembl":"ENSG00000272333","uniprot":"Q9UMN6","entrez":"9757","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9205841/","biology":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place. Likely plays a redundant role with KMT2C in enriching H3K4me1 marks on primed and active enhancer elements. Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development. Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation. Location: Nucleus (UniProt). Locus 19q13.12 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Vulvar cancer: IntOGen driver in 1 cohort (VULVA)","Melanoma: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"kmt2c","kind":"target","name":"KMT2C","aka":["lysine methyltransferase 2C","Histone-lysine N-methyltransferase 2C","KIAA1506","MLL3"],"tldr":"KMT2C (Histone-lysine N-methyltransferase 2C) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Prostate cancer, Bladder & urothelial cancer and 5 more.","summary":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place. Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 3 variants, naming Immune Checkpoint Inhibitor, Gefitinib, Olaparib and Afatinib and others. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.99). IntOGen calls it a driver in 79 cohorts (9 activating, 68 loss-of-function), covering Adrenocortical Carcinoma, Adenoid Cystic Carcinoma, Acute Myeloid Leukaemia, Anal Squamous Cell Carcinoma, Basal Cell Carcinoma, Bladder Urothelial Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13726","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13726"},{"label":"UniProt Q8NEZ4","url":"https://www.uniprot.org/uniprotkb/Q8NEZ4/entry"},{"label":"NCBI Gene 58508","url":"https://www.ncbi.nlm.nih.gov/gene/58508"},{"label":"Ensembl ENSG00000055609","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000055609"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","prostate","urothelial","pancreatic","lung-cancer","colorectal","leukaemia","rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-grasso-mutational-landscape-lethal-crpc-nature-2012","paper-armenia-long-tail-oncogenic-drivers-prostate-nat-genet-2018"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 6 therapies; IntOGen calls it an activating (Act) driver in 9 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 68 cohorts; CIViC holds 9 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Skin Squamous Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KMT2C","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13726","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13726","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NEZ4","url":"https://www.uniprot.org/uniprotkb/Q8NEZ4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KMT2C","url":"https://civicdb.org/features/14089","note":"9 evidence items, 0 assertions, 3 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Bladder Carcinoma, Breast Cancer, Diffuse Large B-cell Lymphoma and 3 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000055609","url":"https://platform.opentargets.org/target/ENSG00000055609/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.56, colorectal cancer 0.63, gastric cancer 0.54, prostate cancer 0.65, urinary bladder cancer 0.63, renal cell carcinoma 0.53 (GraphQL API, CC0)"},{"label":"IntOGen KMT2C","url":"https://www.intogen.org/search?gene=KMT2C","note":"driver in 79 cohorts (Act 9, LoF 68); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KMT2C: RNA low tissue specificity; no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Prostate cancer, Bladder & urothelial cancer, Pancreatic ductal adenocarcinoma, Lung cancer (all types), Colorectal cancer, Leukaemia and more); Open Targets associates it with 6 specific cancer types at or above 0.5 (prostate adenocarcinoma, medulloblastoma, cervical squamous cell carcinoma, breast adenocarcinoma, urinary bladder cancer, pancreatic adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q8NEZ4","url":"https://www.uniprot.org/uniprotkb/Q8NEZ4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KMT2C","url":"https://civicdb.org/features/14089","note":"9 evidence items, 0 assertions, 3 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Bladder Carcinoma, Breast Cancer, Diffuse Large B-cell Lymphoma and 3 more (GraphQL API, CC0)"},{"label":"IntOGen KMT2C","url":"https://www.intogen.org/search?gene=KMT2C","note":"driver in 79 cohorts (Act 9, LoF 68); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KMT2C tissue","url":"https://www.proteinatlas.org/ENSG00000055609-KMT2C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000055609 associations","url":"https://platform.opentargets.org/target/ENSG00000055609/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13726","ensembl":"ENSG00000055609","uniprot":"Q8NEZ4","entrez":"58508","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10819331/","biology":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place. Likely plays a redundant role with KMT2D in enriching H3K4me1 mark on primed and active enhancer elements. Location: Nucleus (UniProt). Locus 7q36.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.72 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Prostate cancer: Open Targets association 0.65 with prostate cancer (MONDO_0008315); IntOGen driver in 10 cohorts (PRAD, PROSTATE)","Bladder & urothelial cancer: Open Targets association 0.63 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: IntOGen driver in 6 cohorts (PAAD, PANCREAS)","Lung cancer: Open Targets association 0.65 with lung cancer (MONDO_0008903)","Colorectal cancer: Open Targets association 0.63 with colorectal cancer (MONDO_0005575); IntOGen driver in 4 cohorts (COAD, COADREAD)","Prostate cancer: truncating mutation in chromatin and histone modifiers 4-15% depending on disease state"],"targetClass":"transcription","prevalence":[{"cancerId":"prostate","pct":"4-15","measure":"Truncating mutation in chromatin and histone modifiers","source":"https://www.cbioportal.org/study/summary?id=prostate_msk_2024","note":"cBioPortal mutation in prostate_msk_2024: KMT2C 156 of 2,260, 6.9%; KMT2D 152, 6.7%; KDM6A 81, 3.6%. In prad_su2c_2019: KMT2C 40 of 444, 9.0%; KMT2D 37, 8.3%; KDM6A 11, 2.5%. In prad_su2c_2015: KMT2C 23 of 150, 15.3%; KMT2D 18, 12.0%. KMT2D (then called MLL2) was mutated in 8.6% of the prostate cancers in the rapid-autopsy series, where the MLL complex was shown to interact with the androgen receptor and to be required for receptor-mediated signalling (Grasso 2012)."}]},{"id":"kmt2d","kind":"target","name":"KMT2D","aka":["lysine methyltransferase 2D","Histone-lysine N-methyltransferase 2D","MLL4","CAGL114","TNRC21","MLL2"],"tldr":"KMT2D (Histone-lysine N-methyltransferase 2D) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Non-Hodgkin lymphoma, Bladder & urothelial cancer and 5 more.","summary":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place. Acts as a coactivator for oestrogen receptor by being recruited by ESR1, thereby activating transcription.\n\nCIViC holds 15 clinical evidence items and 0 assertions across 3 variants, naming Immune Checkpoint Inhibitor, Afatinib, Gefitinib and Olaparib and others. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes affected pathway 0.54, literature 0.97, genetic association 0.18, somatic mutation 0.95, animal model 0.27). IntOGen calls it a driver in 91 cohorts (14 activating, 77 loss-of-function), covering Adenoid Cystic Carcinoma, Acute Lymphoblastic Leukaemia, Anal Squamous Cell Carcinoma, Basal Cell Carcinoma, Burkitt Lymphoma, Bladder/Urinary Tract and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7133","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7133"},{"label":"UniProt O14686","url":"https://www.uniprot.org/uniprotkb/O14686/entry"},{"label":"NCBI Gene 8085","url":"https://www.ncbi.nlm.nih.gov/gene/8085"},{"label":"Ensembl ENSG00000167548","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167548"},{"label":"Pasqualucci et al., Nature 2011: inactivating mutations of the acetyltransferase genes CREBBP and EP300 in B-cell lymphoma","url":"https://doi.org/10.1038/nature09730"},{"label":"Morin et al., Nature 2011: frequent mutation of histone-modifying genes in non-Hodgkin lymphoma","url":"https://doi.org/10.1038/nature10351"},{"label":"Pasqualucci et al., Nat Genet 2011: the coding genome of diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/ng.892"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","non-hodgkin-lymphoma","urothelial","head-and-neck","colorectal","prostate","neuroendocrine","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["epigenetic-reprogramming"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 11 therapies; IntOGen calls it an activating (Act) driver in 14 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 77 cohorts; CIViC holds 15 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Kabuki Syndrome; High-Grade Glioma, NOS.","Lymphoma, CREBBP, EP300 and the rest of the chromatin machinery: CREBBP and EP300 are acetyltransferases. Losing one allele lowers the dose of acetylation, which leaves BCL6 acetylated less often and therefore active more often, and leaves p53 acetylated less often and therefore working less well; the same lesion also turns down the enhancers that would let a germinal-centre cell present antigen to T cells. KMT2D, formerly MLL2, writes H3K4 monomethylation at enhancers and is the single most frequently mutated gene in follicular lymphoma. Frequency: Genomic deletion or somatic mutation removing or inactivating the acetyltransferase domain of CREBBP or, more rarely, EP300 in about 39% of diffuse large B-cell lymphoma and 41% of follicular lymphoma, usually on one allele only (Pasqualucci 2011). KMT2D mutated in 32% of diffuse large B-cell lymphoma and 89% of follicular lymphoma in the discovery series, with MEF2B in 11.4% and 13.4% (Morin 2011); the coding genome of diffuse large B-cell lymphoma carries more than 30 clonally represented alterations per case (Pasqualucci 2011, Nat Genet). What it changes about treatment: Not yet. The pairing of CREBBP loss with HDAC3 dependency is the clearest synthetic-lethal hypothesis in B-cell lymphoma and is in trials; no approval depends on a CREBBP result."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KMT2D","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7133","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7133","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14686","url":"https://www.uniprot.org/uniprotkb/O14686/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KMT2D","url":"https://civicdb.org/features/64","note":"15 evidence items, 0 assertions, 3 variants; diseases: Mantle Cell Lymphoma, Colorectal Adenocarcinoma, Melanoma, Lung Non-small Cell Carcinoma, Lung Adenocarcinoma and 7 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000167548","url":"https://platform.opentargets.org/target/ENSG00000167548/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.57, colorectal cancer 0.65, gastric cancer 0.60, oesophageal cancer 0.59, prostate cancer 0.65, urinary bladder cancer 0.68 (GraphQL API, CC0)"},{"label":"IntOGen KMT2D","url":"https://www.intogen.org/search?gene=KMT2D","note":"driver in 91 cohorts (Act 14, LoF 77); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA KMT2D: RNA low tissue specificity; high antibody staining in 4 normal tissues. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Lymphoma, Bladder & urothelial cancer, Head and neck squamous cell carcinoma, Colorectal cancer, Prostate cancer, Neuroendocrine tumours and more); Open Targets associates it with 7 specific cancer types at or above 0.5 (diffuse large B-cell lymphoma, head and neck squamous cell carcinoma, prostate adenocarcinoma, squamous cell lung carcinoma, medulloblastoma, urinary bladder cancer and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O14686","url":"https://www.uniprot.org/uniprotkb/O14686/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KMT2D","url":"https://civicdb.org/features/64","note":"15 evidence items, 0 assertions, 3 variants; diseases: Mantle Cell Lymphoma, Colorectal Adenocarcinoma, Melanoma, Lung Non-small Cell Carcinoma, Lung Adenocarcinoma and 7 more (GraphQL API, CC0)"},{"label":"IntOGen KMT2D","url":"https://www.intogen.org/search?gene=KMT2D","note":"driver in 91 cohorts (Act 14, LoF 77); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas KMT2D tissue","url":"https://www.proteinatlas.org/ENSG00000167548-KMT2D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167548 associations","url":"https://platform.opentargets.org/target/ENSG00000167548/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7133","ensembl":"ENSG00000167548","uniprot":"O14686","entrez":"8085","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Prasad et al, Oncogene, 1997, \"Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9247308/","biology":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place. Acts as a coactivator for oestrogen receptor by being recruited by ESR1, thereby activating transcription. Location: Nucleus (UniProt). Locus 12q13.12 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.75 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.71 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 3 cohorts (LNM, MLYM, NHL)","Bladder & urothelial cancer: Open Targets association 0.68 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease","Head and neck squamous cell carcinoma: Open Targets association 0.66 with head and neck squamous cell carcinoma (MONDO_0010150); IntOGen driver in 6 cohorts (HNSC)","Colorectal cancer: Open Targets association 0.65 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Prostate cancer: Open Targets association 0.65 with prostate cancer (MONDO_0008315); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"kmt5a","kind":"target","name":"KMT5A","aka":["lysine methyltransferase 5A","N-lysine methyltransferase KMT5A","SET8","SET07","PR-Set7","SETD8"],"tldr":"KMT5A (N-lysine methyltransferase KMT5A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer.","summary":"Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29489","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29489"},{"label":"UniProt Q9NQR1","url":"https://www.uniprot.org/uniprotkb/Q9NQR1/entry"},{"label":"NCBI Gene 387893","url":"https://www.ncbi.nlm.nih.gov/gene/387893"},{"label":"Ensembl ENSG00000183955","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183955"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KMT5A","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:29489","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29489","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NQR1","url":"https://www.uniprot.org/uniprotkb/Q9NQR1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen KMT5A","url":"https://www.intogen.org/search?gene=KMT5A","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:29489","ensembl":"ENSG00000183955","uniprot":"Q9NQR1","entrez":"387893","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tain et al, 2001, \"A novel PR/SET domain-containing gene, SET07, as a candidate tumor suppressor\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9NQR1/entry","biology":"Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins. Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome condensation and proper cytokinesis. Location: Nucleus; Chromosome (UniProt). Locus 12q24.31 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"oncogene","prevalence":[]},{"id":"knl1","kind":"target","name":"KNL1","aka":["kinetochore scaffold 1","Outer kinetochore KNL1 complex subunit KNL1","D40","AF15Q14","CT29","KIAA1570","hKNL-1","hSpc105","PPP1R55","Spc7","MCPH4","CASC5"],"tldr":"KNL1 (Outer kinetochore KNL1 complex subunit KNL1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Skin cancer, Colorectal cancer and 4 more.","summary":"Acts as a component of the outer kinetochore KNL1 complex that serves as a docking point for spindle assembly checkpoint components and mediates microtubule-kinetochore interactions. Kinetochores, consisting of a centromere-associated inner segment and a microtubule-contacting outer segment, play a crucial role in chromosome segregation by mediating the physical connection between centromeric DNA and spindle microtubules. The outer kinetochore is made up of the ten-subunit KMN network, comprising the MIS12, NDC80 and KNL1 complexes, and auxiliary microtubule-associated components; together they connect the outer kinetochore with the inner kinetochore, bind microtubules, and mediate interactions with mitotic checkpoint proteins that delay anaphase until chromosomes are bioriented on the spindle.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.19, somatic mutation 0.84). IntOGen calls it a driver in 3 cohorts (0 activating, 3 loss-of-function), covering Basal Cell Carcinoma, Glioblastoma Multiforme, Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24054","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24054"},{"label":"UniProt Q8NG31","url":"https://www.uniprot.org/uniprotkb/Q8NG31/entry"},{"label":"NCBI Gene 57082","url":"https://www.ncbi.nlm.nih.gov/gene/57082"},{"label":"Ensembl ENSG00000137812","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137812"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","skin-cancer","colorectal","breast-cancer","basal-cell-carcinoma","glioblastoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KNL1","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24054","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24054","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NG31","url":"https://www.uniprot.org/uniprotkb/Q8NG31/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137812","url":"https://platform.opentargets.org/target/ENSG00000137812/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: colorectal cancer 0.54, melanoma 0.52, skin cancer 0.55, breast cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen KNL1","url":"https://www.intogen.org/search?gene=KNL1","note":"driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:24054","ensembl":"ENSG00000137812","uniprot":"Q8NG31","entrez":"57082","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hayette et al, Oncogene, 2000, \"AF15q14, a novel partner gene fused to the MLL gene in an acute myeloid leukaemia with a t(11;15)(q23;q14)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10980622/","biology":"Acts as a component of the outer kinetochore KNL1 complex that serves as a docking point for spindle assembly checkpoint components and mediates microtubule-kinetochore interactions. Kinetochores, consisting of a centromere-associated inner segment and a microtubule-contacting outer segment, play a crucial role in chromosome segregation by mediating the physical connection between centromeric DNA and spindle microtubules. The outer kinetochore is made up of the ten-subunit KMN network, comprising the MIS12, NDC80 and KNL1 complexes, and auxiliary microtubule-associated components; together they connect the outer kinetochore with the inner kinetochore, bind microtubules, and mediate interactions with mitotic checkpoint proteins that delay anaphase until chromosomes are bioriented on the spindle. Required for kinetochore binding by a distinct subset of kMAPs (kinetochore-bound microtubule-associated proteins) and motors. Acts in coordination with CENPK to recruit the NDC80 complex to the outer kinetochore. Can bind either to microtubules or to the protein phosphatase 1 (PP1) catalytic subunits PPP1CA and PPP1CC (via overlapping binding sites), it has higher affinity for PP1. Location: Nucleus; Chromosome, centromere, kinetochore; Cytoplasm (UniProt). Locus 15q15.1 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Basal cell carcinoma: IntOGen driver in 1 cohort (BCC)","Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"knstrn","kind":"target","name":"KNSTRN","aka":["kinetochore localized astrin (SPAG5) binding protein","Small kinetochore-associated protein","FLJ14502","kinastrin","TRAF4AF1","C15orf23"],"tldr":"KNSTRN (Small kinetochore-associated protein) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Melanoma.","summary":"Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase. Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture. The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Cutaneous Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30767"},{"label":"UniProt Q9Y448","url":"https://www.uniprot.org/uniprotkb/Q9Y448/entry"},{"label":"NCBI Gene 90417","url":"https://www.ncbi.nlm.nih.gov/gene/90417"},{"label":"Ensembl ENSG00000128944","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128944"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KNSTRN","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30767","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y448","url":"https://www.uniprot.org/uniprotkb/Q9Y448/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen KNSTRN","url":"https://www.intogen.org/search?gene=KNSTRN","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30767","ensembl":"ENSG00000128944","uniprot":"Q9Y448","entrez":"90417","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Touji et al, 1996.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9Y448/entry","biology":"Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase. Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sister chromatid segregation, and maintenance of spindle pole architecture. The astrin (SPAG5)-kinastrin (SKAP) complex promotes stable microtubule-kinetochore attachments. Required for kinetochore oscillations and dynamics of microtubule plus-ends during live cell mitosis, possibly by forming a link between spindle microtubule plus-ends and mitotic chromosomes to achieve faithful cell division. May be involved in UV-induced apoptosis via its interaction with PRPF19; however, these results need additional evidence. Location: Nucleus; Chromosome, centromere, kinetochore; Cytoplasm, cytoskeleton, spindle pole; Cytoplasm, cytoskeleton, microtubule organizing center (UniProt). Locus 15q15.1 (HGNC).","whereFound":["Melanoma: IntOGen driver in 1 cohort (SKCM)"],"targetClass":"oncogene","prevalence":[]},{"id":"kras","kind":"target","name":"KRAS","aka":[],"tldr":"KRAS is the most commonly mutated cancer gene, called 'undruggable' for 40 years until 2021.","summary":"KRAS mutations drive ~90% of pancreatic, ~40% of colorectal, and ~30% of lung adenocarcinomas. Sotorasib and adagrasib (G12C) were first; G12D inhibitors (MRTX1133, zoldonrasib) and pan-RAS(ON) inhibitors (daraxonrasib, RMC-6236, in phase 3 in pancreatic cancer) are the next wave. Combination with EGFR antibodies is needed in colorectal cancer.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/KRAS","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/KRAS"}],"tags":["driver"],"related":["kras-g12d","kras-g12c","stk11-keap1-loss","ras-wild-type"],"cancers":["pancreatic","colorectal","nsclc","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":["guardant360-cdx","therascreen-cdx","tempus-xt-cdx","resolution-ctdx-first","calderasib","jdq443","gfh375","setidegrasib","incb161734","vs-7375","jyp0015"],"companies":["adventris-pharmaceuticals","bridgebio-oncology-therapeutics","cogent-biosciences","erasca","imagene-ai","inivata","kumquat-biosciences","lucence","treeline-biosciences"],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","aml-signalling","chemical-carcinogenesis-receptor-activation","choline-metabolism-in-cancer","cml-signalling","colorectal-cancer-signalling","endometrial-cancer-signalling","gastric-cancer-signalling","hepatocellular-carcinoma-signalling","micrornas-in-cancer","nsclc-signalling","pancreatic-cancer-signalling","renal-cell-carcinoma-signalling","thyroid-cancer-signalling"],"terms":["kras-mutation-subtypes","wild-type"],"trials":["nct06385925","nct06667544","nct06243354"],"people":[],"bottlenecks":[],"keyPapers":["paper-singhi-targeted-genome-profiling-3594-pdac-gastroenterology-2019","paper-philip-kras-wild-type-pancreatic-ccr-2022","paper-witkiewicz-pancreatic-exomes-utsw-nat-commun-2015","paper-tcga-pancreatic-integrated-characterisation-cancer-cell-2017","paper-bournet-kras-g12d-prognosis-pancreatic-ctg-2016","paper-qian-driver-genes-outcomes-resected-pancreatic-jama-oncol-2018","paper-daraxonrasib-pancreatic-n-engl-j-med-2026","paper-codebreak-100-sotorasib-kras-g12c-pancreatic-nejm-2023","paper-krystal-1-adagrasib-kras-g12c-solid-tumours-jco-2023","paper-heining-nrg1-fusions-kras-wild-type-pancreatic-cancer-discov-2018","paper-jones-nrg1-fusions-recurrent-actionable-kras-wild-type-pdac-ccr-2019","paper-karapetis-kras-cetuximab-colorectal-nejm-2008","paper-vogelstein-genetic-alterations-colorectal-tumor-development-nejm-1988","paper-loree-tumour-location-continuum-colorectal-ccr-2018","paper-sepulveda-molecular-biomarkers-colorectal-guideline-jco-2017","paper-schirripa-kras-g12c-metastatic-colorectal-clin-colorectal-cancer-2020","paper-codebreak-300-nejm-2023","paper-krystal-1-crc-yaeger-nejm-2023","paper-douillard-prime-panitumumab-ras-nejm-2013","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-li-gallbladder-exome-erbb-nat-genet-2014","paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","paper-javle-biliary-ngs-cancer-2016","paper-kris-lung-cancer-mutation-consortium-jama-2014","paper-alexandrov-tobacco-smoking-mutational-signatures-science-2016"],"journals":[],"dependsOn":[],"notes":["Pancreatic ductal adenocarcinoma: mutated in 88 to 94% (88% of 3,594 on targeted panels, Singhi 2019; 93.7% of 2,336 MSK-IMPACT samples, cBioPortal). The allele matters: G12D about 40%, G12V about 32%, G12R about 16%, Q61 about 7% and G12C 1 to 2%. G12D carries the worst survival (6 versus 9 months; Bournet 2016) and G12R the best; codon 61 alleles were associated with improved survival (Witkiewicz 2015). Mutant allele copy gain is common (296 of 853 dosage-annotated MSK samples) and helps set the basal-like phenotype (Chan-Seng-Yue 2020). Daraxonrasib, a tri-complex RAS(ON) inhibitor, halved the death hazard in previously treated RAS-mutant disease (RASolute 302; O'Reilly 2026), while the G12C-only covalent inhibitors reach 21 to 33% response in the 1 to 2% who carry that allele (Strickler 2023, Bekaii-Saab 2023).","Colorectal cancer: mutated in 40 to 44%, with an allele distribution unlike any other cancer: G12D about 29%, G12V about 20%, G13D about 18%, G12C about 7% and A146T about 6% of KRAS mutation records (cBioPortal). About one in six KRAS mutations sits outside exon 2, which is why extended RAS testing of KRAS and NRAS exons 2, 3 and 4 is required before an EGFR antibody (Douillard 2013, Sepulveda 2017). Any RAS mutation predicts no benefit from cetuximab or panitumumab (Karapetis 2008); G12C, about 3% of all colorectal cancers, is the only allele with a targeted option, and only in combination with an EGFR antibody because the inhibitor alone triggers adaptive EGFR reactivation. KRAS-mutant subclones are also the commonest cause of acquired resistance to EGFR antibodies and are visible in plasma months before progression (Misale 2012, Diaz 2012).","Lung cancer: mutated in 27 to 33% of Western adenocarcinoma, 10.9% in East Asian adenocarcinoma and 7.3% in never smokers, and in only 1.4% of squamous tumours (cBioPortal). Lung is the one common cancer where G12C dominates, at 41 to 51% of KRAS mutation records or about 13% of all adenocarcinomas, because the G to T transversion that produces it is the signature lesion of tobacco carcinogens (Alexandrov 2016); in colorectal and pancreatic cancer G12D leads instead. The other half of the KRAS population, G12V, G12D, G12A, G13X and Q61X, has no approved inhibitor. What decides behaviour is the co-mutation rather than the allele: STK11 loss makes the tumour immune-poor, KEAP1 loss makes it resistant to everything, and TP53 co-mutation makes it inflamed and relatively favourable (Skoulidis 2015, Arbour 2018, Ricciuti 2022)."],"symbol":"KRAS","role":[],"sources":[],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: 2 of 2 label readouts filed under it measure a sequence variant (KRAS G12C, KRAS G12D (and other non-G12C KRAS mutations)) absent from normal cells. HPA KRAS: RNA low tissue specificity; high antibody staining in 7 normal tissues; highest cancer staining ovarian cancer (2 of 9 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types), Pancreatic ductal adenocarcinoma, Biliary tract cancer (all types), Endometrial cancer, Ovarian cancer); Open Targets associates it with 24 specific cancer types at or above 0.5 (non-small cell lung carcinoma, gastric cancer, acute myeloid leukemia, linear nevus sebaceous syndrome, lung adenocarcinoma, urinary bladder cancer and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"KRAS G12C label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=c80a362c-7ac3-4894-a076-0691e68ef8c1","note":"KRAS G12C"},{"label":"KRAS G12D (and other non-G12C KRAS mutations) label threshold","url":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools","note":"KRAS wild-type (negative selector)"},{"label":"Human Protein Atlas KRAS tissue","url":"https://www.proteinatlas.org/ENSG00000133703-KRAS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000133703 associations","url":"https://platform.opentargets.org/target/ENSG00000133703/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6407","ensembl":"ENSG00000133703","uniprot":"P01116","entrez":"3845","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McGrath J.P. et al, Nature, 1983, \"Structure and organization of the human Ki-ras proto-oncogene and a related processed pseudogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6308466/","biology":"Small GTPase switch; oncogenic mutations lock it in the GTP-bound ON state. Adaptive feedback and secondary mutations drive resistance.","whereFound":["Pancreatic (~90%)","Colorectal (~40-45%)","Lung adenocarcinoma (~30%)","Endometrial, ovarian (subsets)","Pancreatic ductal adenocarcinoma: activating mutation (any allele) 88-94%","Pancreatic ductal adenocarcinoma: g12d allele (share of kras mutation records) 39-41%","Pancreatic ductal adenocarcinoma: g12v allele (share of kras mutation records) 28-37%","Pancreatic ductal adenocarcinoma: g12r allele (share of kras mutation records) 12-21%","Pancreatic ductal adenocarcinoma: q61h, q61r, q61l or q61k allele (share of kras mutation records) 5-8%","Pancreatic ductal adenocarcinoma: g12c allele (share of kras mutation records) 1-2%","Pancreatic ductal adenocarcinoma: no kras mutation (fusion and alternative-driver search) 6-12%","Colorectal cancer: activating mutation (any allele) 40-44%","Colorectal cancer: g12d allele (share of kras mutation records) 27-29%","Colorectal cancer: g12v allele (share of kras mutation records) 16-22%","Colorectal cancer: g13d allele (share of kras mutation records) 16-24%","Colorectal cancer: g12c allele (share of kras mutation records) 6-9%","Colorectal cancer: codon 59, 61, 117 or 146 mutation (share of kras missense records) 16-18%","Gallbladder cancer: mutation (amplification rarer) about 11%","Non-small-cell lung cancer: activating mutation (any allele) 27-33%","Non-small-cell lung cancer: g12c allele (share of kras mutation records) 41-51%","Non-small-cell lung cancer: g12v, g12d, g12a, g13x and q61x (share of kras mutation records) 49-59%"],"targetClass":"oncogene","prevalence":[{"cancerId":"pancreatic","pct":"85-90","measure":"Any KRAS mutation","source":"https://www.cbioportal.org/study/summary?id=paad_tcga_pan_can_atlas_2018","note":"G12D ~40%, G12V ~30%, G12R ~15%, G12C ~1-2%"},{"cancerId":"colorectal","pct":"40-45","measure":"Any KRAS mutation","source":"https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018","note":"G12C ~3-4%"},{"cancerId":"nsclc","pct":"25-30","measure":"Adenocarcinoma, any KRAS mutation","source":"https://www.cbioportal.org/study/summary?id=luad_tcga_pan_can_atlas_2018","note":"G12C ~13% of adenocarcinoma"},{"cancerId":"endometrial","pct":"15-20","measure":"Any KRAS mutation","source":"https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018"},{"cancerId":"ovarian","pct":"10-15","measure":"Low-grade serous and mucinous","source":"https://www.cbioportal.org/study/summary?id=ov_tcga_pan_can_atlas_2018"},{"cancerId":"pancreatic","pct":"88-94","measure":"Activating mutation (any allele)","source":"https://doi.org/10.1053/j.gastro.2019.02.037","note":"88% of 3,594 targeted-panel samples (Singhi 2019); 2,217 of 2,483, 89.3%, in the Caris cohort (Philip 2022); more than 90% of 109 microdissected exomes (Witkiewicz 2015); cBioPortal: 2,188 of 2,336, 93.7%, in pdac_msk_2024; 361 of 395, 91.4%, in pancreas_msk_2024; 135 of 140, 96.4%, in paad_cptac_2021; 344 of 383, 89.8%, in paad_qcmg_uq_2016; 100 of 109, 91.7%, in paad_utsw_2015; 94 of 99, 94.9%, in paad_icgc. A subset of tumours carries multiple KRAS mutations, some biallelic (Cancer Genome Atlas 2017); mutant KRAS copy gains were recorded in 296 of 853 dosage-annotated pdac_msk_2024 samples (2 or more extra copies in 201, 3 or more in 95)."},{"cancerId":"pancreatic","pct":"39-41","measure":"G12D allele (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"889 of 2,188 KRAS mutation records, 40.6%, in pdac_msk_2024 (the study's own KRAS_VARIANT attribute: 892 G12D, 706 G12V, 352 G12R, 111 Q61H, 37 Q61R, 26 G12C, 70 other); 136 of 344, 39.5%, in paad_qcmg_uq_2016; 61 of 135, 45.2%, in paad_cptac_2021; 39 of 95, 41.1%, in paad_icgc; 49 of 119, 41.2%, in paad_tcga_pan_can_atlas_2018; 37 of 100, 37.0%, in paad_utsw_2015 (cBioPortal). Among 219 advanced patients genotyped on EUS-guided biopsies, G12D 73, G12V 53, G12R 21 (Bournet 2016)."},{"cancerId":"pancreatic","pct":"28-37","measure":"G12V allele (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"709 of 2,188, 32.4%, in pdac_msk_2024; 108 of 344, 31.4%, in paad_qcmg_uq_2016; 40 of 135, 29.6%, in paad_cptac_2021; 35 of 95, 36.8%, in paad_icgc; 33 of 119, 27.7%, in paad_tcga_pan_can_atlas_2018; 40 of 100, 40.0%, in paad_utsw_2015 (cBioPortal, mutation records). 53 of 147 codon-12 mutations in 219 advanced patients (Bournet 2016)."},{"cancerId":"pancreatic","pct":"12-21","measure":"G12R allele (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"354 of 2,188, 16.2%, in pdac_msk_2024; 61 of 344, 17.7%, in paad_qcmg_uq_2016; 23 of 135, 17.0%, in paad_cptac_2021; 16 of 95, 16.8%, in paad_icgc; 25 of 119, 21.0%, in paad_tcga_pan_can_atlas_2018; 12 of 100, 12.0%, in paad_utsw_2015 (cBioPortal, mutation records). G12R is almost unique to pancreatic cancer among KRAS-driven tumours and carried the longest survival of the codon-12 alleles, 14 months, in 219 advanced patients (Bournet 2016)."},{"cancerId":"pancreatic","pct":"5-8","measure":"Q61H, Q61R, Q61L or Q61K allele (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"167 of 2,188, 7.6% (Q61H 107, Q61R 38, Q61L 14, Q61K 8), in pdac_msk_2024; 23 of 344, 6.7% (Q61H 19), in paad_qcmg_uq_2016; 8 of 135, 5.9%, in paad_cptac_2021; 5 of 95, 5.3%, in paad_icgc; 8 of 119, 6.7%, in paad_tcga_pan_can_atlas_2018; 7 of 100, 7.0%, in paad_utsw_2015 (cBioPortal, mutation records). Codon 61 alleles were selectively associated with improved survival among 109 microdissected cancers (Witkiewicz 2015)."},{"cancerId":"pancreatic","pct":"1-2","measure":"G12C allele (share of KRAS mutation records)","source":"https://doi.org/10.1056/NEJMoa2208470","note":"About 1 to 2% of pancreatic cancers (Strickler 2023); 28 of 2,188 KRAS mutation records, 1.3%, and 26 of 2,194 samples with a KRAS_VARIANT call, 1.2%, in pdac_msk_2024; 6 of 344, 1.7%, in paad_qcmg_uq_2016; 4 of 100, 4.0%, in paad_utsw_2015; 3 of 361 in pancreas_msk_2024; 1 of 135 in paad_cptac_2021; 1 of 119 in paad_tcga_pan_can_atlas_2018 (cBioPortal). CodeBreaK 100 treated 38 previously treated patients: 8 centrally confirmed responses, 21%, progression-free survival 4.0 months, overall survival 6.9 months (Strickler 2023); KRYSTAL-1 gave 7 of 21 pancreatic responses, 33.3%, to adagrasib (Bekaii-Saab 2023)."},{"cancerId":"pancreatic","pct":"6-12","measure":"No KRAS mutation (fusion and alternative-driver search)","source":"https://doi.org/10.1158/1078-0432.CCR-21-3581","note":"266 of 2,483, 10.7% (Philip 2022); 12% of 3,594 (Singhi 2019); 148 of 2,336, 6.3%, in pdac_msk_2024; 39 of 383, 10.2%, in paad_qcmg_uq_2016; 5 of 99 by the study's KRAS_MUTATION attribute in paad_icgc; 34 of 395, 8.6%, in pancreas_msk_2024 (cBioPortal). Among KRAS wild-type tumours: TP53 mutated in 44.5%, BRAF in 13.0%, fusions of BRAF 6.6%, FGFR2 5.2%, ALK 2.6%, RET 1.3% and NRG1 1.3%, amplification of FGF3 3%, ERBB2 2.2%, FGFR3 1.8%, NTRK 1.8% and MET 1.3%; MSI-high 4.7% against 0.7% and TMB-high 4.5% against 1% in KRAS-mutant disease (Philip 2022). KRAS wild-type TCGA tumours carried GNAS, BRAF, CTNNB1 and other RAS-pathway alterations (Cancer Genome Atlas 2017); all 4 of 17 young adults (Heining 2018) and all 3 of 47 patients (Jones 2019) with wild-type tumours carried a kinase or NRG1 fusion on whole-genome sequencing."},{"cancerId":"colorectal","pct":"40-44","measure":"Activating mutation (any allele)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 3,096 of 7,237, 42.8%, in crc_msk_2026; 495 of 1,134, 43.7%, in crc_msk_2017; 666 of 1,516, 43.9%, in crc_eo_2020; 218 of 534, 40.8%, in coadread_tcga_pan_can_atlas_2018; 94 of 224, 42.0%, in coadread_tcga_pub; 173 of 619, 27.9%, in coadread_dfci_2016; 239 of 1,015, 23.5%, in crc_sysucc_2022. In CO.17, 42.3% of 394 evaluable tumours carried a K-ras exon 2 mutation (Karapetis 2008); ras-gene mutations were present in 58% of adenomas larger than 1 cm but only 9% of adenomas under 1 cm (Vogelstein 1988)."},{"cancerId":"colorectal","pct":"27-29","measure":"G12D allele (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal, mutation records: 908 of 3,169, 28.7%, in crc_msk_2026; 137 of 504, 27.2%, in crc_msk_2017; 191 of 680, 28.1%, in crc_eo_2020; 58 of 223, 26.0%, in coadread_tcga_pan_can_atlas_2018; 45 of 177, 25.4%, in coadread_dfci_2016; 73 of 243, 30.0%, in crc_sysucc_2022."},{"cancerId":"colorectal","pct":"16-22","measure":"G12V allele (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal, mutation records: 622 of 3,169, 19.6%, in crc_msk_2026; 101 of 504, 20.0%, in crc_msk_2017; 140 of 680, 20.6%, in crc_eo_2020; 49 of 223, 22.0%, in coadread_tcga_pan_can_atlas_2018; 24 of 177, 13.6%, in coadread_dfci_2016; 38 of 243, 15.6%, in crc_sysucc_2022."},{"cancerId":"colorectal","pct":"16-24","measure":"G13D allele (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal, mutation records: 569 of 3,169, 18.0%, in crc_msk_2026; 90 of 504, 17.9%, in crc_msk_2017; 118 of 680, 17.4%, in crc_eo_2020; 37 of 223, 16.6%, in coadread_tcga_pan_can_atlas_2018; 43 of 177, 24.3%, in coadread_dfci_2016; 55 of 243, 22.6%, in crc_sysucc_2022."},{"cancerId":"colorectal","pct":"6-9","measure":"G12C allele (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal, mutation records: 219 of 3,169, 6.9%, in crc_msk_2026; 32 of 504, 6.3%, in crc_msk_2017; 42 of 680, 6.2%, in crc_eo_2020; 15 of 223, 6.7%, in coadread_tcga_pan_can_atlas_2018; 16 of 177, 9.0%, in coadread_dfci_2016; 13 of 243, 5.3%, in crc_sysucc_2022. That is about 3% of all colorectal cancers. Among 839 KRAS-mutant metastatic patients, 145, 17%, carried G12C, more often men and with lung and liver metastases, and their overall survival was shorter than with other KRAS alleles (hazard ratio 1.32) (Schirripa 2020)."},{"cancerId":"colorectal","pct":"16-18","measure":"Codon 59, 61, 117 or 146 mutation (share of KRAS missense records)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal, missense records: 491 of 3,155, 15.6%, in crc_msk_2026 (codons 59 and 61, 152; codons 117 and 146, 270; other, 69); 85 of 503, 16.9%, in crc_msk_2017; 17 of 93, 18.3%, in coadread_tcga_pub; 104 of 676, 15.4%, in crc_eo_2020. A146T alone is 185 of 3,169 KRAS records in crc_msk_2026 and 33 of 504 in crc_msk_2017."},{"cancerId":"gallbladder","pct":11,"measure":"Mutation (amplification rarer)","source":"https://doi.org/10.1158/1078-0432.ccr-22-1954","note":"11% of 244 samples (Giraldo 2022; cBioPortal gbc_mskcc_2022: mutation in 18 of 244, 7.4%, and amplification in 10 of 244, 4.1%); 7.8% of 57 (Li 2014); 7% of 376 Indian patients (Suryavanshi 2025); 7.8% of 103 samples in cBioPortal gbc_msk_2018."},{"cancerId":"nsclc","pct":"27-33","measure":"Activating mutation (any allele)","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal: 787 of 2,653, 29.7%, in luad_mskcc_2023_met_organotropism; 241 of 915, 26.3%, in lung_msk_2017; 168 of 566, 29.7%, in luad_tcga_pan_can_atlas_2018; 75 of 230, 32.6%, in luad_tcga_pub; 33 of 110, 30.0%, in luad_cptac_2020; 33 of 302, 10.9%, in luad_oncosg_2020; 17 of 232, 7.3%, in lung_nci_2022. The Lung Cancer Mutation Consortium found KRAS in 182 of 733 fully genotyped adenocarcinomas, 25%, the commonest single driver in that series (Kris 2014)."},{"cancerId":"nsclc","pct":"41-51","measure":"G12C allele (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal, mutation records: 344 of 797, 43.2%, in luad_mskcc_2023_met_organotropism; 268 of 526, 50.9%, in nsclc_ctdx_msk_2022; 104 of 244, 42.6%, in lung_msk_2017; 70 of 172, 40.7%, in luad_tcga_pan_can_atlas_2018; 96 of 224, 42.9%, in nsclc_tcga_broad_2016; 36 of 87, 41.4%, in nsclc_pd1_msk_2018. That is about 13% of all lung adenocarcinomas (344 of 2,653 samples in luad_mskcc_2023_met_organotropism)."},{"cancerId":"nsclc","pct":"49-59","measure":"G12V, G12D, G12A, G13X and Q61X (share of KRAS mutation records)","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal, mutation records in luad_mskcc_2023_met_organotropism: G12V 119 of 797 (14.9%), G12D 97 (12.2%), G12A 72 (9.0%), G13C 32 (4.0%), Q61H 30 (3.8%), G13D 30 (3.8%), G12R 11, G12S 10, G12F 6, Q61L 6. In lung_msk_2017: G12D 37 of 244 (15.2%), G12V 37 (15.2%), G12A 19, G13D 12, Q61H 11."}]},{"id":"krt18","kind":"target","name":"KRT18","aka":["keratin 18","Keratin, type I cytoskeletal 18"],"tldr":"KRT18 (Keratin, type I cytoskeletal 18) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Structural component of intermediate filaments in simple epithelial cells. Forms intermediate filaments by heterodimerising with the type II keratin KRT8, providing mechanical stability and resilience to epithelial cells. Involved in ARHGEF40-mediated actin stress fibre formation and tensional force-induced stress fibre formation and reinforcement.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6430","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6430"},{"label":"UniProt P05783","url":"https://www.uniprot.org/uniprotkb/P05783/entry"},{"label":"NCBI Gene 3875","url":"https://www.ncbi.nlm.nih.gov/gene/3875"},{"label":"Ensembl ENSG00000111057","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111057"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KRT18","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6430","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6430","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P05783","url":"https://www.uniprot.org/uniprotkb/P05783/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene KRT18","url":"https://civicdb.org/features/3215","note":"1 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA KRT18: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 77 nTPM); high antibody staining in 24 normal tissues; highest cancer staining pancreatic cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas KRT18 tissue","url":"https://www.proteinatlas.org/ENSG00000111057-KRT18/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000111057 associations","url":"https://platform.opentargets.org/target/ENSG00000111057/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6430","ensembl":"ENSG00000111057","uniprot":"P05783","entrez":"3875","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Oshima R.G. et al, Differentiation, 1986, \"Comparison of mouse and human keratin 18: a component of intermediate filaments expressed prior to implantation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2434380/","biology":"Structural component of intermediate filaments in simple epithelial cells. Forms intermediate filaments by heterodimerising with the type II keratin KRT8, providing mechanical stability and resilience to epithelial cells. Involved in ARHGEF40-mediated actin stress fibre formation and tensional force-induced stress fibre formation and reinforcement. Integrates into the intermediate filament network of skeletal muscle fibres alongside desmin and KRT19, contributing to force transmission. Organisation and orientation of KRT8/KRT18 filaments are responsible for the properly elongated morphology of epithelial tubules. Also acts downstream of ROCK kinase activation as part of a positive feedback mechanism in response to cellular mechanical stress loading. Location: Nucleus matrix; Cytoplasm, perinuclear region; Nucleus, nucleolus; Cytoplasm (UniProt). Locus 12q13.13 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"krt5","kind":"target","name":"KRT5","aka":["keratin 5","Keratin, type II cytoskeletal 5","KRT5A","CK-5","EBS2"],"tldr":"KRT5 (Keratin, type II cytoskeletal 5) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer and Basal cell carcinoma.","summary":"Structural component of intermediate filaments in basal keratinocytes of stratified epithelia. Forms heteropolymers with type I partners including KRT14 and KRT15, contributing to the formation of the keratin intermediate filament network that provides mechanical stability and resilience to the basal layer of the epidermis. Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localisation in keratinocytes.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.98, animal model 0.42, genetic association 0.73).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6442","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6442"},{"label":"UniProt P13647","url":"https://www.uniprot.org/uniprotkb/P13647/entry"},{"label":"NCBI Gene 3852","url":"https://www.ncbi.nlm.nih.gov/gene/3852"},{"label":"Ensembl ENSG00000186081","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186081"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KRT5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6442","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6442","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P13647","url":"https://www.uniprot.org/uniprotkb/P13647/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000186081","url":"https://platform.opentargets.org/target/ENSG00000186081/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: skin cancer 0.56, basal cell carcinoma 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6442","ensembl":"ENSG00000186081","uniprot":"P13647","entrez":"3852","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Eckert R.L. et al, DNA, 1988, \"The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2456903/","biology":"Structural component of intermediate filaments in basal keratinocytes of stratified epithelia. Forms heteropolymers with type I partners including KRT14 and KRT15, contributing to the formation of the keratin intermediate filament network that provides mechanical stability and resilience to the basal layer of the epidermis. Regulates the recruitment of Langerhans cells to the epidermis, potentially by modulation of the abundance of macrophage chemotactic cytokines, macrophage inflammatory cytokines and CTNND1 localisation in keratinocytes. Location: Cytoplasm (UniProt). Locus 12q13.13 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Basal cell carcinoma: Open Targets association 0.56 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"other","prevalence":[]},{"id":"ksr1","kind":"target","name":"KSR1","aka":["kinase suppressor of ras 1","Kinase suppressor of Ras 1","RSU2"],"tldr":"KSR1 (Kinase suppressor of Ras 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Part of a multiprotein signalling complex which promotes phosphorylation of Raf family members and activation of downstream MAP kinases. Independently of its kinase activity, acts as MAP2K1/MEK1 and MAP2K2/MEK2-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1 or MAP2K2/MEK2, dimerises with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 and/or MAP2K2/MEK2. Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.97, animal model 0.57, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6465","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6465"},{"label":"UniProt Q8IVT5","url":"https://www.uniprot.org/uniprotkb/Q8IVT5/entry"},{"label":"NCBI Gene 8844","url":"https://www.ncbi.nlm.nih.gov/gene/8844"},{"label":"Ensembl ENSG00000141068","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141068"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KSR1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6465","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6465","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IVT5","url":"https://www.uniprot.org/uniprotkb/Q8IVT5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141068","url":"https://platform.opentargets.org/target/ENSG00000141068/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6465","ensembl":"ENSG00000141068","uniprot":"Q8IVT5","entrez":"8844","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Therrien et al, Cell, 1995, \"KSR, a novel protein kinase required for RAS signal transduction\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8521512/","biology":"Part of a multiprotein signalling complex which promotes phosphorylation of Raf family members and activation of downstream MAP kinases. Independently of its kinase activity, acts as MAP2K1/MEK1 and MAP2K2/MEK2-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1 or MAP2K2/MEK2, dimerises with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 and/or MAP2K2/MEK2. Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP. Its kinase activity is unsure. Some protein kinase activity has been detected in vitro, however the physiological relevance of this activity is unknown. Location: Cytoplasm; Membrane; Cell membrane; Cell projection, ruffle membrane (UniProt). Locus 17q11.2 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"ksr2","kind":"target","name":"KSR2","aka":["kinase suppressor of ras 2","Kinase suppressor of Ras 2","FLJ25965"],"tldr":"KSR2 (Kinase suppressor of Ras 2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Location-regulated scaffold connecting MEK to RAF. Has very low protein kinase activity and can phosphorylate MAP2K1 at several Ser and Thr residues with very low efficiency (in vitro). Acts as MAP2K1/MEK1-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1, dimerises with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.74, affected pathway 0.97, genetic association 0.47).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18610","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18610"},{"label":"UniProt Q6VAB6","url":"https://www.uniprot.org/uniprotkb/Q6VAB6/entry"},{"label":"NCBI Gene 283455","url":"https://www.ncbi.nlm.nih.gov/gene/283455"},{"label":"Ensembl ENSG00000171435","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171435"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KSR2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18610","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18610","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6VAB6","url":"https://www.uniprot.org/uniprotkb/Q6VAB6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171435","url":"https://platform.opentargets.org/target/ENSG00000171435/associations","note":"association with cancer (MONDO_0004992) 0.69;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:18610","ensembl":"ENSG00000171435","uniprot":"Q6VAB6","entrez":"283455","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Channavajhala P.L. et al, J. Biol. Chem, 2003, \"Identification of a novel human kinase supporter of Ras (hKSR-2) that functions as a negative regulator of Cot (Tpl2) signaling\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12975377/","biology":"Location-regulated scaffold connecting MEK to RAF. Has very low protein kinase activity and can phosphorylate MAP2K1 at several Ser and Thr residues with very low efficiency (in vitro). Acts as MAP2K1/MEK1-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1, dimerises with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1. Interaction with BRAF enhances KSR2-mediated phosphorylation of MAP2K1 (in vitro). Blocks MAP3K8 kinase activity and MAP3K8-mediated signalling. Acts as a negative regulator of MAP3K3-mediated activation of ERK, JNK and NF-kappa-B pathways, inhibiting MAP3K3-mediated interleukin-8 production. Location: Cytoplasm; Membrane (UniProt). Locus 12q24.22-q24.23 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"ktn1","kind":"target","name":"KTN1","aka":["kinectin 1","Kinectin","KIAA0004","CG1"],"tldr":"KTN1 (Kinectin) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.03, somatic mutation 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6467","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6467"},{"label":"UniProt Q86UP2","url":"https://www.uniprot.org/uniprotkb/Q86UP2/entry"},{"label":"NCBI Gene 3895","url":"https://www.ncbi.nlm.nih.gov/gene/3895"},{"label":"Ensembl ENSG00000126777","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126777"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"KTN1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6467","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6467","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86UP2","url":"https://www.uniprot.org/uniprotkb/Q86UP2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000126777","url":"https://platform.opentargets.org/target/ENSG00000126777/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6467","ensembl":"ENSG00000126777","uniprot":"Q86UP2","entrez":"3895","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Print C.G. et al, Gene, 1994, \"Cloning of a gene encoding a human leukocyte protein characterised by extensive heptad repeats\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8039706/","biology":"Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin. Location: Endoplasmic reticulum membrane (UniProt). Locus 14q22.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"l3mbtl3","kind":"target","name":"L3MBTL3","aka":["L3MBTL histone methyl-lysine binding protein 3","Lethal(3)malignant brain tumor-like protein 3","KIAA1798"],"tldr":"L3MBTL3 (Lethal(3)malignant brain tumour-like protein 3) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Is a negative regulator of Notch target genes expression, required for RBPJ-mediated transcriptional repression. It recruits KDM1A to Notch-responsive elements and promotes KDM1A-mediated H3K4me demethylation. Involved in the regulation of ubiquitin-dependent degradation of a set of methylated non-histone proteins, including SOX2, DNMT1 and E2F1.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.81, genetic association 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23035","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23035"},{"label":"UniProt Q96JM7","url":"https://www.uniprot.org/uniprotkb/Q96JM7/entry"},{"label":"NCBI Gene 84456","url":"https://www.ncbi.nlm.nih.gov/gene/84456"},{"label":"Ensembl ENSG00000198945","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198945"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"L3MBTL3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23035","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23035","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96JM7","url":"https://www.uniprot.org/uniprotkb/Q96JM7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198945","url":"https://platform.opentargets.org/target/ENSG00000198945/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: breast cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:23035","ensembl":"ENSG00000198945","uniprot":"Q96JM7","entrez":"84456","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11347906/","biology":"Is a negative regulator of Notch target genes expression, required for RBPJ-mediated transcriptional repression. It recruits KDM1A to Notch-responsive elements and promotes KDM1A-mediated H3K4me demethylation. Involved in the regulation of ubiquitin-dependent degradation of a set of methylated non-histone proteins, including SOX2, DNMT1 and E2F1. It acts as an adapter recruiting the CRL4-DCAF5 E3 ubiquitin ligase complex to methylated target proteins. Required for normal maturation of myeloid progenitor cells. Location: Nucleus (UniProt). Locus 6q23.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"lag3","kind":"target","name":"LAG-3","aka":[],"tldr":"LAG-3 is the third immune brake to reach approval, combined with PD-1 blockade in melanoma.","summary":"LAG-3 is an inhibitory receptor that binds MHC class II and FGL1 and is co-expressed with PD-1 on exhausted T cells, so blocking both releases two brakes on the same cell. Relatlimab plus nivolumab (Opdualag) improved progression-free survival over nivolumab alone in untreated advanced melanoma in RELATIVITY-047, with less toxicity than the ipilimumab combination, making LAG-3 the third immune checkpoint to reach approval. LAG-3 expression of at least 1 percent on immune cells was seen in roughly 75 to 80 percent of the RELATIVITY-047 population. Fianlimab and favezelimab are in phase 3 across tumour types, and whether the benefit extends beyond melanoma is the central open question. For a newcomer: LAG-3 is the immune brake that joined PD-1 blockade to make melanoma immunotherapy work better without much extra toxicity.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/LAG3","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/LAG3"}],"tags":["checkpoint"],"related":[],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["hlx26"],"companies":[],"institutions":[],"pathways":["pd1-checkpoint","t-cell-exhaustion"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"LAG3","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"one-type","specificityNote":"Immune or microenvironment target: the record's class is immune checkpoint. HPA LAG3: RNA tissue enhanced (choroid plexus 13 nTPM, lymphoid tissue 22 nTPM, ovary 18 nTPM); blood lineage lineage enriched (T-cells 13 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (melanoma). (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas LAG3 tissue","url":"https://www.proteinatlas.org/ENSG00000089692-LAG3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P18627","url":"https://www.uniprot.org/uniprotkb/P18627/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000089692 associations","url":"https://platform.opentargets.org/target/ENSG00000089692/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6476","ensembl":"ENSG00000089692","uniprot":"P18627","entrez":"3902","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Triebel et al, J. Exp. Med, 1990, \"LAG-3, a novel lymphocyte activation gene closely related to CD4\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1692078/","biology":"Binds MHC class II and FGL1; co-expressed with PD-1 on exhausted T cells.","whereFound":["Exhausted T cells"],"targetClass":"checkpoint","prevalence":[{"cancerId":"melanoma","pct":"75-80","measure":"LAG-3 >=1% on immune cells","source":"https://en.wikipedia.org/wiki/LAG3","note":"RELATIVITY-047 population"}]},{"id":"lama5","kind":"target","name":"LAMA5","aka":["laminin subunit alpha 5","Laminin subunit alpha-5"],"tldr":"LAMA5 (Laminin subunit alpha-5) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organisation of cells into tissues during embryonic development by interacting with other extracellular matrix components. Plays a role in the regulation of skeletogenesis, through a mechanism that involves integrin-mediated signalling and PTK2B/PYK2.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.89, animal model 0.44, genetic association 0.64, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6485","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6485"},{"label":"UniProt O15230","url":"https://www.uniprot.org/uniprotkb/O15230/entry"},{"label":"NCBI Gene 3911","url":"https://www.ncbi.nlm.nih.gov/gene/3911"},{"label":"Ensembl ENSG00000130702","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130702"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LAMA5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6485","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6485","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15230","url":"https://www.uniprot.org/uniprotkb/O15230/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000130702","url":"https://platform.opentargets.org/target/ENSG00000130702/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6485","ensembl":"ENSG00000130702","uniprot":"O15230","entrez":"3911","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Durkin M.E. et al, FEBS Lett, 1997, \"Tissue-specific expression of the human laminin alpha5-chain, and mapping of the gene to human chromosome 20q13.2-13.3 and to distal mouse chromosome 2 near the locus for the ragged (Ra) mutation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9271224/","biology":"Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organisation of cells into tissues during embryonic development by interacting with other extracellular matrix components. Plays a role in the regulation of skeletogenesis, through a mechanism that involves integrin-mediated signalling and PTK2B/PYK2. Location: Secreted, extracellular space, extracellular matrix, basement membrane (UniProt). Locus 20q13.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"lamc1","kind":"target","name":"LAMC1","aka":["laminin subunit gamma 1","Laminin subunit gamma-1","LAMB2"],"tldr":"LAMC1 (Laminin subunit gamma-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organisation of cells into tissues during embryonic development by interacting with other extracellular matrix components. As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.96, animal model 0.44, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6492","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6492"},{"label":"UniProt P11047","url":"https://www.uniprot.org/uniprotkb/P11047/entry"},{"label":"NCBI Gene 3915","url":"https://www.ncbi.nlm.nih.gov/gene/3915"},{"label":"Ensembl ENSG00000135862","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135862"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LAMC1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6492","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6492","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11047","url":"https://www.uniprot.org/uniprotkb/P11047/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135862","url":"https://platform.opentargets.org/target/ENSG00000135862/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6492","ensembl":"ENSG00000135862","uniprot":"P11047","entrez":"3915","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pikkarainen et al, J. Biol. Chem, 1988, \"Human laminin B2 chain. Comparison of the complete amino acid sequence with the B1 chain reveals variability in sequence homology between different structural domains\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3360804/","biology":"Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organisation of cells into tissues during embryonic development by interacting with other extracellular matrix components. As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway. Location: Secreted, extracellular space, extracellular matrix, basement membrane (UniProt). Locus 1q25.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"lats1","kind":"target","name":"LATS1","aka":["large tumor suppressor kinase 1","Serine/threonine-protein kinase LATS1","WARTS"],"tldr":"LATS1 (Serine/threonine-protein kinase LATS1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Cervical cancer, Breast cancer, Ovarian cancer and 4 more.","summary":"Negative regulator of YAP1 in the Hippo signalling pathway that plays a pivotal role in organ size control and tumour suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.99, animal model 0.41, genetic association 0.00, somatic mutation 0.87). IntOGen calls it a driver in 6 cohorts (1 activating, 5 loss-of-function), covering Basal Cell Carcinoma, Invasive Breast Carcinoma, Cervical Adenocarcinoma, Cervical Squamous Cell Carcinoma, Ovarian Epithelial Tumour, Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6514","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6514"},{"label":"UniProt O95835","url":"https://www.uniprot.org/uniprotkb/O95835/entry"},{"label":"NCBI Gene 9113","url":"https://www.ncbi.nlm.nih.gov/gene/9113"},{"label":"Ensembl ENSG00000131023","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000131023"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["cervical","breast-cancer","ovarian","pancreatic","skin-cancer","colorectal","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hippo-yap"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LATS1","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6514","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6514","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95835","url":"https://www.uniprot.org/uniprotkb/O95835/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000131023","url":"https://platform.opentargets.org/target/ENSG00000131023/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: colorectal cancer 0.53, skin cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen LATS1","url":"https://www.intogen.org/search?gene=LATS1","note":"driver in 6 cohorts (Act 1, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6514","ensembl":"ENSG00000131023","uniprot":"O95835","entrez":"9113","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tao et al, Nat. Genet, 1999, \"Human homologue of the Drosophila melanogaster lats tumour suppressor modulates CDC2 activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9988268/","biology":"Negative regulator of YAP1 in the Hippo signalling pathway that plays a pivotal role in organ size control and tumour suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Acts as a tumour suppressor which plays a critical role in maintenance of ploidy through its actions in both mitotic progression and the G1 tetraploidy checkpoint. Negatively regulates G2/M transition by down-regulating CDK1 kinase activity. Involved in the control of p53 expression. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle; Midbody; Cytoplasm, cytoskeleton, microtubule organizing center, spindle pole body (UniProt). Locus 6q25.1 (HGNC).","whereFound":["Cervical cancer: IntOGen driver in 2 cohorts (CEAD, CESC)","Breast cancer: IntOGen driver in 1 cohort (BRCA)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)"],"targetClass":"kinase","prevalence":[]},{"id":"lats2","kind":"target","name":"LATS2","aka":["large tumor suppressor kinase 2","Serine/threonine-protein kinase LATS2"],"tldr":"LATS2 (Serine/threonine-protein kinase LATS2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma, Skin cancer, Colorectal cancer and 5 more.","summary":"Negative regulator of YAP1 in the Hippo signalling pathway that plays a pivotal role in organ size control and tumour suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.00, somatic mutation 0.83). IntOGen calls it a driver in 5 cohorts (1 activating, 4 loss-of-function), covering Lung Squamous Cell Carcinoma, Pilocytic Astrocytoma, Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6515","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6515"},{"label":"UniProt Q9NRM7","url":"https://www.uniprot.org/uniprotkb/Q9NRM7/entry"},{"label":"NCBI Gene 26524","url":"https://www.ncbi.nlm.nih.gov/gene/26524"},{"label":"Ensembl ENSG00000150457","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000150457"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["mesothelioma","skin-cancer","colorectal","breast-cancer","pleural-mesothelioma","nsclc","paediatric-low-grade-glioma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LATS2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6515","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6515","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NRM7","url":"https://www.uniprot.org/uniprotkb/Q9NRM7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000150457","url":"https://platform.opentargets.org/target/ENSG00000150457/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.55, melanoma 0.50, skin cancer 0.55, breast cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen LATS2","url":"https://www.intogen.org/search?gene=LATS2","note":"driver in 5 cohorts (Act 1, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6515","ensembl":"ENSG00000150457","uniprot":"Q9NRM7","entrez":"26524","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hori et al, Oncogene, 2000, \"Molecular cloning of a novel human protein kinase, kpm, that is homologous to warts/lats, a Drosophila tumor suppressor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10871863/","biology":"Negative regulator of YAP1 in the Hippo signalling pathway that plays a pivotal role in organ size control and tumour suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Also phosphorylates YAP1 in response to cell contact inhibition-driven WWP1 ubiquitination of AMOTL2, which results in LATS2 activation. Acts as a tumour suppressor which plays a critical role in centrosome duplication, maintenance of mitotic fidelity and genomic stability. Negatively regulates G1/S transition by down-regulating cyclin E/CDK2 kinase activity. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm; Cytoplasm, cytoskeleton, spindle pole; Nucleus (UniProt). Locus 13q12.11 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 3 cohorts (PLMESO)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Pleural mesothelioma: IntOGen driver in 3 cohorts (PLMESO)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"kinase","prevalence":[]},{"id":"lck","kind":"target","name":"LCK","aka":["LCK proto-oncogene, Src family tyrosine kinase","Tyrosine-protein kinase Lck"],"tldr":"LCK (Tyrosine-protein kinase Lck) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a fusion partner, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Renal cell carcinoma, Myeloproliferative neoplasms and 5 more.","summary":"Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T-cells in the thymus and in the function of mature T-cells. Plays a key role in T-cell antigen receptor (TCR)-linked signal transduction pathways. Constitutively associated with the cytoplasmic portions of the CD4 and CD8 surface receptors.\n\nOpen Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes clinical 0.98, affected pathway 0.92, literature 0.95, genetic association 0.00, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6524","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6524"},{"label":"UniProt P06239","url":"https://www.uniprot.org/uniprotkb/P06239/entry"},{"label":"NCBI Gene 3932","url":"https://www.ncbi.nlm.nih.gov/gene/3932"},{"label":"Ensembl ENSG00000182866","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182866"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","rcc","myeloproliferative-neoplasms","non-hodgkin-lymphoma","sarcoma","skin-cancer","ovarian","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.98; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LCK","role":["drug-target","fusion-partner"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6524","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6524","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P06239","url":"https://www.uniprot.org/uniprotkb/P06239/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182866","url":"https://platform.opentargets.org/target/ENSG00000182866/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: renal cell carcinoma 0.67, ovarian cancer 0.55, melanoma 0.53, sarcoma 0.62, acute lymphoblastic leukaemia 0.64, non-Hodgkin lymphoma 0.64 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA LCK: RNA tissue enriched (lymphoid tissue 326 nTPM); blood lineage group enriched (NK-cells 628 nTPM, T-cells 1,617 nTPM); high antibody staining in 5 normal tissues; highest cancer staining lymphoma (8 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Renal cell carcinoma, Myeloid neoplasms, Lymphoma, Sarcomas (soft tissue, bone, GIST), Skin cancer (all types), Ovarian cancer); Open Targets associates it with 4 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, chronic myeloid leukemia, renal cell carcinoma, soft tissue sarcoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P06239","url":"https://www.uniprot.org/uniprotkb/P06239/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Human Protein Atlas LCK tissue","url":"https://www.proteinatlas.org/ENSG00000182866-LCK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000182866 associations","url":"https://platform.opentargets.org/target/ENSG00000182866/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6524","ensembl":"ENSG00000182866","uniprot":"P06239","entrez":"3932","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Koga et al, Eur. J. Immunol, 1986, \"A human T cell-specific cDNA clone (YT16) encodes a protein with extensive homology to a family of protein-tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3493153/","biology":"Non-receptor tyrosine-protein kinase that plays an essential role in the selection and maturation of developing T-cells in the thymus and in the function of mature T-cells. Plays a key role in T-cell antigen receptor (TCR)-linked signal transduction pathways. Constitutively associated with the cytoplasmic portions of the CD4 and CD8 surface receptors. Association of the TCR with a peptide antigen-bound MHC complex facilitates the interaction of CD4 and CD8 with MHC class II and class I molecules, respectively, thereby recruiting the associated LCK protein to the vicinity of the TCR-CD3 complex. LCK then phosphorylates tyrosine residues within the immunoreceptor tyrosine-based activation motifs (ITAM) of the cytoplasmic tails of the TCR-gamma chains and CD3 subunits, initiating the TCR-CD3 signalling pathway. Once stimulated, the TCR recruits the tyrosine kinase ZAP70, that becomes phosphorylated and activated by LCK. Location: Cell membrane; Cytoplasm, cytosol (UniProt). Locus 1p35.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.69 with leukaemia (MONDO_0005059)","Renal cell carcinoma: Open Targets association 0.67 with renal cell carcinoma (MONDO_0005086)","Myeloproliferative neoplasms: Open Targets association 0.66 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.64 with non-Hodgkin lymphoma (MONDO_0018908)","Sarcomas: Open Targets association 0.62 with sarcoma (MONDO_0005089)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)"],"targetClass":"kinase","prevalence":[]},{"id":"ldb1","kind":"target","name":"LDB1","aka":["LIM domain binding 1","LIM domain-binding protein 1","CLIM2"],"tldr":"LDB1 (LIM domain-binding protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Medulloblastoma and Paediatric low-grade glioma.","summary":"Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Plays a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1.\n\nIntOGen calls it a driver in 3 cohorts (0 activating, 3 loss-of-function), covering Medulloblastoma, Pilocytic Astrocytoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6532","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6532"},{"label":"UniProt Q86U70","url":"https://www.uniprot.org/uniprotkb/Q86U70/entry"},{"label":"NCBI Gene 8861","url":"https://www.ncbi.nlm.nih.gov/gene/8861"},{"label":"Ensembl ENSG00000198728","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198728"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["medulloblastoma","paediatric-low-grade-glioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LDB1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6532","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6532","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86U70","url":"https://www.uniprot.org/uniprotkb/Q86U70/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen LDB1","url":"https://www.intogen.org/search?gene=LDB1","note":"driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6532","ensembl":"ENSG00000198728","uniprot":"Q86U70","entrez":"8861","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Semina E.V. et al, Mamm. Genome, 1998, \"Cloning and chromosomal localization of two novel human genes encoding LIM-domain binding factors CLIM1 and CLIM2/LDB1/NLI\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9799849/","biology":"Binds to the LIM domain of a wide variety of LIM domain-containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Plays a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1. Acts synergistically with LHX1/LIM1 in axis formation and activation of gene expression. Acts with LMO2 in the regulation of red blood cell development, maintaining erythroid precursors in an immature state. Location: Nucleus (UniProt). Locus 10q24.32 (HGNC).","whereFound":["Medulloblastoma: IntOGen driver in 2 cohorts (MBL)","Paediatric low-grade glioma: IntOGen driver in 1 cohort (PAST)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"lef1","kind":"target","name":"LEF1","aka":["lymphoid enhancer binding factor 1","Lymphoid enhancer-binding factor 1","TCF1ALPHA","TCF10","TCF7L3"],"tldr":"LEF1 (Lymphoid enhancer-binding factor 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Non-Hodgkin lymphoma, Hepatocellular carcinoma and 3 more.","summary":"Transcription factor that binds DNA in a sequence-specific manner. Participates in the Wnt signalling pathway. Activates transcription of target genes in the presence of CTNNB1 and EP300.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.99, animal model 0.67, genetic association 0.00, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6551","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6551"},{"label":"UniProt Q9UJU2","url":"https://www.uniprot.org/uniprotkb/Q9UJU2/entry"},{"label":"NCBI Gene 51176","url":"https://www.ncbi.nlm.nih.gov/gene/51176"},{"label":"Ensembl ENSG00000138795","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138795"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","hcc","skin-cancer","breast-cancer","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LEF1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6551","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6551","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UJU2","url":"https://www.uniprot.org/uniprotkb/Q9UJU2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138795","url":"https://platform.opentargets.org/target/ENSG00000138795/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.59, non-Hodgkin lymphoma 0.59, skin cancer 0.53, breast cancer 0.52, leukaemia 0.61 (GraphQL API, CC0)"},{"label":"IntOGen LEF1","url":"https://www.intogen.org/search?gene=LEF1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6551","ensembl":"ENSG00000138795","uniprot":"Q9UJU2","entrez":"51176","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Waterman M.L. et al, Genes Dev, 1991, \"A thymus-specific member of the HMG protein family regulates the human T cell receptor C alpha enhancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2010090/","biology":"Transcription factor that binds DNA in a sequence-specific manner. Participates in the Wnt signalling pathway. Activates transcription of target genes in the presence of CTNNB1 and EP300. PIAG antagonises both Wnt-dependent and Wnt-independent activation by LEF1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by LEF1 and CTNNB1. Regulates T-cell receptor alpha enhancer function. Location: Nucleus (UniProt). Locus 4q25 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Acute lymphoblastic leukaemia: Open Targets association 0.59 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"lepr","kind":"target","name":"LEPR","aka":["leptin receptor","Leptin receptor","CD295","LEP-R","OB-R"],"tldr":"LEPR (Leptin receptor) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Meningioma.","summary":"Receptor for hormone LEP/leptin. On ligand binding, mediates LEP central and peripheral effects through the activation of different signalling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6554","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6554"},{"label":"UniProt P48357","url":"https://www.uniprot.org/uniprotkb/P48357/entry"},{"label":"NCBI Gene 3953","url":"https://www.ncbi.nlm.nih.gov/gene/3953"},{"label":"Ensembl ENSG00000116678","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116678"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["meningioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LEPR","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6554","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6554","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48357","url":"https://www.uniprot.org/uniprotkb/P48357/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene LEPR","url":"https://civicdb.org/features/3274","note":"1 evidence items, 0 assertions, 1 variants; diseases: Meningioma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA LEPR: RNA tissue enriched (liver 122 nTPM); blood lineage lineage enriched (granulocytes 5 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas LEPR tissue","url":"https://www.proteinatlas.org/ENSG00000116678-LEPR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116678 associations","url":"https://platform.opentargets.org/target/ENSG00000116678/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6554","ensembl":"ENSG00000116678","uniprot":"P48357","entrez":"3953","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tartaglia L.A. et al, Cell, 1995, \"Identification and expression cloning of a leptin receptor, OB-R\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8548812/","biology":"Receptor for hormone LEP/leptin. On ligand binding, mediates LEP central and peripheral effects through the activation of different signalling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic and affects innate and adaptive immunity. Control of energy homeostasis and melanocortin production (stimulation of POMC and full repression of AgRP transcription) is mediated by STAT3 signalling, whereas distinct signals regulate NPY and the control of fertility, growth and glucose homeostasis. Involved in the regulation of counter-regulatory response to hypoglycemia by inhibiting neurons of the parabrachial nucleus. Location: Cell membrane; Basolateral cell membrane; Secreted (UniProt). Locus 1p31.3 (HGNC).","whereFound":["Meningioma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"lgr5-gene","kind":"target","name":"LGR5","aka":["leucine rich repeat containing G protein-coupled receptor 5","Leucine-rich repeat-containing G protein-coupled receptor 5","HG38","GPR67","GPR49"],"tldr":"LGR5 (Leucine-rich repeat-containing G protein-coupled receptor 5) is a protein on the cell surface. The public catalogues list it as a drug target, a biomarker and an antigen, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Sarcomas.","summary":"Receptor for R-spondins that potentiates the canonical Wnt signalling pathway and acts as a stem cell marker of the intestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signalling pathway to increase expression of target genes. In contrast to classical G protein-coupled receptors, does not activate heterotrimeric G proteins to transduce the signal.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Fluorouracil. In OnCo, 1 product record names it (Petosemtamab).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4504","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4504"},{"label":"UniProt O75473","url":"https://www.uniprot.org/uniprotkb/O75473/entry"},{"label":"NCBI Gene 8549","url":"https://www.ncbi.nlm.nih.gov/gene/8549"},{"label":"Ensembl ENSG00000139292","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139292"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":["petosemtamab"],"companies":[],"institutions":[],"pathways":["wnt"],"terms":[],"trials":["nct05759728"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 3 clinical evidence items on its variants; a membrane or secreted protein (UniProt keywords) that 1 antibody-based OnCo product name. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Oral Squamous Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LGR5","role":["drug-target","biomarker","antigen"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:4504","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4504","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75473","url":"https://www.uniprot.org/uniprotkb/O75473/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene LGR5","url":"https://civicdb.org/features/6772","note":"3 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Oral Squamous Cell Carcinoma, Sarcoma (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 1 antibody (Petosemtamab) aim at the antigen, which HPA finds stained high in 3 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA LGR5: RNA tissue enhanced (fallopian tube 16 nTPM, placenta 18 nTPM, skeletal muscle 21 nTPM); high antibody staining in 3 normal tissues; highest cancer staining cervical cancer (2 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas LGR5 tissue","url":"https://www.proteinatlas.org/ENSG00000139292-LGR5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas LGR5 pathology","url":"https://www.proteinatlas.org/ENSG00000139292-LGR5/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139292 associations","url":"https://platform.opentargets.org/target/ENSG00000139292/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:4504","ensembl":"ENSG00000139292","uniprot":"O75473","entrez":"8549","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McDonald et al, Biochem. Biophys. Res. Commun, 1998, \"Identification and cloning of an orphan G protein-coupled receptor of the glycoprotein hormone receptor subfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9642114/","biology":"Receptor for R-spondins that potentiates the canonical Wnt signalling pathway and acts as a stem cell marker of the intestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signalling pathway to increase expression of target genes. In contrast to classical G protein-coupled receptors, does not activate heterotrimeric G proteins to transduce the signal. Involved in the development and/or maintenance of the adult intestinal stem cells during postembryonic development. Location: Cell membrane; Golgi apparatus, trans-Golgi network membrane (UniProt). Locus 12q21.1 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Sarcomas: CIViC evidence names this disease"],"targetClass":"surface-antigen","prevalence":[]},{"id":"lifr","kind":"target","name":"LIFR","aka":["LIF receptor subunit alpha","Leukemia inhibitory factor receptor","CD118"],"tldr":"LIFR (Leukaemia inhibitory factor receptor) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Melanoma and Small-cell lung cancer.","summary":"Functions as a membrane-bound signal-transducing subunit either in complex with IL6ST/gp130 or as part of the ciliary neurotrophic factor receptor (CNTFR) complex composed by CNTFR, IL6ST/gp130 and LIFR. Signal transmission is initiated either by binding directly to cytokines, such as OSM or LIF or CTF1, or through the binding of other cytokines, like CNTF, CLCF1 or the heterodimeric complex CRLF1-CLCF1 to the non-signalling receptor CNTFR; ligand binding induces heterodimerisation of IL6ST/gp130 and LIFR which activates JAK tyrosine kinases bound to their intracellular domains. These kinases subsequently phosphorylate the homodimer or heterodimer form of IL6ST/gp130.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.98, animal model 0.57, genetic association 0.17, somatic mutation 0.73). IntOGen calls it a driver in 2 cohorts (1 activating, 0 loss-of-function), covering Melanoma, Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6597","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6597"},{"label":"UniProt P42702","url":"https://www.uniprot.org/uniprotkb/P42702/entry"},{"label":"NCBI Gene 3977","url":"https://www.ncbi.nlm.nih.gov/gene/3977"},{"label":"Ensembl ENSG00000113594","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113594"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["melanoma","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LIFR","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6597","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6597","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42702","url":"https://www.uniprot.org/uniprotkb/P42702/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000113594","url":"https://platform.opentargets.org/target/ENSG00000113594/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"},{"label":"IntOGen LIFR","url":"https://www.intogen.org/search?gene=LIFR","note":"driver in 2 cohorts (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6597","ensembl":"ENSG00000113594","uniprot":"P42702","entrez":"3977","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gearing D.P. et al, EMBO J, 1991, \"Leukemia inhibitory factor receptor is structurally related to the IL-6 signal transducer, gp130\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1915266/","biology":"Functions as a membrane-bound signal-transducing subunit either in complex with IL6ST/gp130 or as part of the ciliary neurotrophic factor receptor (CNTFR) complex composed by CNTFR, IL6ST/gp130 and LIFR. Signal transmission is initiated either by binding directly to cytokines, such as OSM or LIF or CTF1, or through the binding of other cytokines, like CNTF, CLCF1 or the heterodimeric complex CRLF1-CLCF1 to the non-signalling receptor CNTFR; ligand binding induces heterodimerisation of IL6ST/gp130 and LIFR which activates JAK tyrosine kinases bound to their intracellular domains. These kinases subsequently phosphorylate the homodimer or heterodimer form of IL6ST/gp130. The tyrosine phosphorylated signalling receptors serve in turn as docking sites for recruitment and activation of signal transducer and activators of transcription (STATs). Engages sites 3 of ligands cytokines. Could inhibit the biological activity of LIF by blocking its binding to receptors on target cells. Location: Cell membrane; Secreted (UniProt). Locus 5p13.1 (HGNC).","whereFound":["Melanoma: IntOGen driver in 1 cohort (MEL)","Small-cell lung cancer: IntOGen driver in 1 cohort (SCLC)"],"targetClass":"oncogene","prevalence":[]},{"id":"lig4","kind":"target","name":"LIG4","aka":["DNA ligase 4"],"tldr":"LIG4 (DNA ligase 4) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"DNA ligase involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination. Catalyses the NHEJ ligation step of the broken DNA during DSB repair by resealing the DNA breaks after the gap filling is completed. Joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.88, animal model 0.51, genetic association 0.44, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6601","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6601"},{"label":"UniProt P49917","url":"https://www.uniprot.org/uniprotkb/P49917/entry"},{"label":"NCBI Gene 3981","url":"https://www.ncbi.nlm.nih.gov/gene/3981"},{"label":"Ensembl ENSG00000174405","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000174405"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["homologous-recombination-repair"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LIG4","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6601","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6601","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49917","url":"https://www.uniprot.org/uniprotkb/P49917/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000174405","url":"https://platform.opentargets.org/target/ENSG00000174405/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6601","ensembl":"ENSG00000174405","uniprot":"P49917","entrez":"3981","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wei Y.-F. et al, Mol. Cell. Biol, 1995, \"Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7760816/","biology":"DNA ligase involved in DNA non-homologous end joining (NHEJ); required for double-strand break (DSB) repair and V(D)J recombination. Catalyses the NHEJ ligation step of the broken DNA during DSB repair by resealing the DNA breaks after the gap filling is completed. Joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. LIG4 is mechanistically flexible: it can ligate nicks as well as compatible DNA overhangs alone, while in the presence of XRCC4, it can ligate ends with 2-nucleotides (nt) microhomology and 1-nt gaps. Forms a subcomplex with XRCC4; the LIG4-XRCC4 subcomplex is responsible for the NHEJ ligation step and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends. Location: Nucleus (UniProt). Locus 13q33.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"lilrb1","kind":"target","name":"LILRB1 (ILT2)","aka":["ILT2","LIR-1","CD85j","leukocyte immunoglobulin like receptor B1"],"tldr":"LILRB1 is a brake on macrophages, dendritic cells and some NK and T cells that reads ordinary HLA class I, so any cell showing HLA is protected. Antibodies that block it, with or without LILRB2, are in early trials.","summary":"LILRB1 (chromosome 19q13.42) is a receptor for class I MHC antigens that recognises a broad spectrum of HLA-A, HLA-B, HLA-C, HLA-G and HLA-F alleles and the cytomegalovirus homologue UL18; ligand binding gives inhibitory signals and down-regulates the immune response, and engagement on NK or T cells protects the target from lysis. It is expressed in B cells, monocytes and myeloid, plasmacytoid and tolerogenic dendritic cells, in decidual macrophages and decidual NK cells (protein level) (UniProt Q8NHL6). NGM707, an antibody against LILRB1 and LILRB2, was studied in phase 1/2 with pembrolizumab (NCT04913337); a later phase 2 study was withdrawn by the sponsor (NCT07511972).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:6605","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6605"},{"label":"UniProt Q8NHL6","url":"https://www.uniprot.org/uniprotkb/Q8NHL6/entry"},{"label":"NCBI Gene 10859","url":"https://www.ncbi.nlm.nih.gov/gene/10859"},{"label":"ClinicalTrials.gov NCT04913337","url":"https://clinicaltrials.gov/study/NCT04913337"}],"tags":["checkpoint-map"],"related":["lilrb2","hla-a","pembrolizumab"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"LILRB1","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:6605","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6605","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt Q8NHL6","url":"https://www.uniprot.org/uniprotkb/Q8NHL6/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:6605","ensembl":"ENSG00000104972","uniprot":"Q8NHL6","entrez":"10859","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wagtmann et al, Curr. Biol, 1997, \"A new human gene complex encoding the killer cell inhibitory receptors and related monocyte/macrophage receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9259559/","biology":"An ITIM-bearing LILR; LILRB receptors negatively regulate myeloid maturation and permit a suppressive myeloid phenotype in tumours (van der Touw et al. 2017).","whereFound":["B cells, monocytes, dendritic cells, decidual macrophages and NK cells (UniProt Q8NHL6)"],"targetClass":"checkpoint","prevalence":[]},{"id":"lilrb2","kind":"target","name":"LILRB2 (ILT4)","aka":["ILT4","LIR-2","CD85d","leukocyte immunoglobulin like receptor B2"],"tldr":"LILRB2 is a brake on monocytes and dendritic cells that reads HLA-G and other HLA class I molecules and keeps them in a tolerant, tumour-friendly state. The antibody MK-4830 blocks it and is in phase 2 with pembrolizumab.","summary":"LILRB2 (chromosome 19q13.42) is a receptor for class I MHC antigens across HLA-A, B, C, G and F that is involved in down-regulating the immune response and developing tolerance, and recognises peptide-bound HLA-G with beta-2 microglobulin; it is expressed in monocytes, at lower levels in myeloid and plasmacytoid dendritic cells, in tolerogenic IL-10-producing dendritic cells, in myeloid-derived suppressor cells during pregnancy, at low levels in NK cells and in B cells (UniProt Q8N423). MK-4830 is in phase 2 studies with pembrolizumab, including a completed study with chemotherapy in ovarian cancer (NCT05446870) and a platform study in solid tumours (NCT04895722).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:6606","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6606"},{"label":"UniProt Q8N423","url":"https://www.uniprot.org/uniprotkb/Q8N423/entry"},{"label":"NCBI Gene 10288","url":"https://www.ncbi.nlm.nih.gov/gene/10288"},{"label":"ClinicalTrials.gov NCT05446870","url":"https://clinicaltrials.gov/study/NCT05446870"},{"label":"van der Touw et al. 2017 (Europe PMC)","url":"https://europepmc.org/article/MED/28638976"}],"tags":["checkpoint-map"],"related":["lilrb1","hla-a","pembrolizumab"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"LILRB2","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:6606","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6606","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt Q8N423","url":"https://www.uniprot.org/uniprotkb/Q8N423/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:6606","ensembl":"ENSG00000131042","uniprot":"Q8N423","entrez":"10288","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wagtmann et al, Curr. Biol, 1997, \"A new human gene complex encoding the killer cell inhibitory receptors and related monocyte/macrophage receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9259559/","biology":"An ITIM-bearing LILR of myeloid cells; the murine orthologue PIRB regulates myeloid-derived suppressor cell development and a tumour-permissive microenvironment (van der Touw et al. 2017).","whereFound":["Monocytes, dendritic cells, myeloid-derived suppressor cells (UniProt Q8N423)","Ovarian cancer trial of MK-4830 (NCT05446870)"],"targetClass":"checkpoint","prevalence":[]},{"id":"liv1","kind":"target","name":"LIV-1 (SLC39A6)","aka":[],"tldr":"LIV-1 is an oestrogen-regulated zinc transporter on most breast cancers; the ADC against it (ladiratuzumab vedotin) showed activity in triple-negative disease but was discontinued in 2024.","summary":"LIV-1 is expressed in >90% of breast cancers including ~70% of TNBC, and in prostate, melanoma and cervical cancers. Ladiratuzumab vedotin (SGN-LIV1A, MMAE payload) produced ~25-30% responses in pretreated metastatic breast cancer and was tested with pembrolizumab; Pfizer discontinued it in 2024 after acquiring Seagen. The target remains validated for next-generation ADCs and radioligands.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/SLC39A6","links":[{"label":"Ladiratuzumab vedotin (JCO 2019 abstract)","url":"https://doi.org/10.1200/JCO.2019.37.15_suppl.1094"}],"tags":["gap-fill","discontinued"],"related":[],"cancers":["tnbc","breast-hr-positive","prostate"],"sections":[],"technologies":["adc"],"targets":[],"drugs":[],"companies":["pfizer"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["TNBC and prostate rates are not well characterised in peer-reviewed series with a stated denominator; the ~70% TNBC figure comes from sponsor assays reported in trial abstracts."],"symbol":"SLC39A6","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:18607","ensembl":"ENSG00000141424","uniprot":"Q13433","entrez":"25800","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Green et al, 2001.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q13433/entry","biology":"Zinc transporter of the ZIP family (SLC39A6) that localises to the plasma membrane, imports zinc and promotes EMT via STAT3/Snail; transcriptionally induced by oestrogen (hence LIV-1, from ER+ breast cancer lines).","whereFound":["Breast cancer (>90% HR+, ~70% TNBC)","Prostate cancer","Cervical, melanoma, pancreatic cancer (subsets)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"breast-hr-positive","pct":"37-43","measure":"IHC, high SLC39A6 expression (cytoplasmic H-score >160 in 37%; nuclear staining in 43%) in 670 unselected early breast cancers, enriched in ER+ tumours","source":"https://doi.org/10.1007/s10549-021-06336-y","note":"Assay- and cutoff-dependent: Seagen's SGN-LIV1A programme reported far higher any-expression rates with its own IHC assay"}]},{"id":"lmna","kind":"target","name":"LMNA","aka":["lamin A/C","Prelamin-A/C","LMN1","CMD1A","LGMD1B","PRO1","LMNL1"],"tldr":"LMNA (Prelamin-A/C) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane. Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organisation, nuclear membrane and telomere dynamics. Lamin A and C also regulate matrix stiffness by conferring nuclear mechanical properties.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes affected pathway 0.89, literature 0.88, genetic association 0.33, somatic mutation 0.49, animal model 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6636","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636"},{"label":"UniProt P02545","url":"https://www.uniprot.org/uniprotkb/P02545/entry"},{"label":"NCBI Gene 4000","url":"https://www.ncbi.nlm.nih.gov/gene/4000"},{"label":"Ensembl ENSG00000160789","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160789"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LMNA","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6636","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02545","url":"https://www.uniprot.org/uniprotkb/P02545/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000160789","url":"https://platform.opentargets.org/target/ENSG00000160789/associations","note":"association with cancer (MONDO_0004992) 0.65;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6636","ensembl":"ENSG00000160789","uniprot":"P02545","entrez":"4000","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McKeon F.D. et al, Nature, 1986, \"Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3453101/","biology":"Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane. Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organisation, nuclear membrane and telomere dynamics. Lamin A and C also regulate matrix stiffness by conferring nuclear mechanical properties. The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively. Lamin A and C are present in equal amounts in the lamina of mammals. Also involved in DNA repair: recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilising broken DNA ends. Location: Nucleus lamina; Nucleus envelope; Nucleus, nucleoplasm; Nucleus matrix (UniProt). Locus 1q22 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"lmo1","kind":"target","name":"LMO1","aka":["LIM domain only 1","Rhombotin-1","TTG1","RHOM1","RBTN1"],"tldr":"LMO1 (Rhombotin-1) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"May be involved in gene regulation within neural lineage cells potentially by direct DNA binding or by binding to other transcription factors.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.37, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6641","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6641"},{"label":"UniProt P25800","url":"https://www.uniprot.org/uniprotkb/P25800/entry"},{"label":"NCBI Gene 4004","url":"https://www.ncbi.nlm.nih.gov/gene/4004"},{"label":"Ensembl ENSG00000166407","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166407"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LMO1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6641","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6641","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25800","url":"https://www.uniprot.org/uniprotkb/P25800/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000166407","url":"https://platform.opentargets.org/target/ENSG00000166407/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6641","ensembl":"ENSG00000166407","uniprot":"P25800","entrez":"4004","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McGuire E.A. et al, Mol. Cell. Biol, 1989, \"The t(11;14)(p15;q11) in a T-cell acute lymphoblastic leukemia cell line activates multiple transcripts, including Ttg-1, a gene encoding a potential zinc finger protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2501659/","biology":"May be involved in gene regulation within neural lineage cells potentially by direct DNA binding or by binding to other transcription factors. Location: Nucleus (UniProt). Locus 11p15.4 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"lmo2","kind":"target","name":"LMO2","aka":["LIM domain only 2","Rhombotin-2","TTG2","RHOM2","RBTN2","RBTNL1"],"tldr":"LMO2 (Rhombotin-2) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes affected pathway 0.35, literature 0.93, genetic association 0.03, somatic mutation 0.96, animal model 0.52).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6642","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6642"},{"label":"UniProt P25791","url":"https://www.uniprot.org/uniprotkb/P25791/entry"},{"label":"NCBI Gene 4005","url":"https://www.ncbi.nlm.nih.gov/gene/4005"},{"label":"Ensembl ENSG00000135363","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135363"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LMO2","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6642","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6642","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25791","url":"https://www.uniprot.org/uniprotkb/P25791/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135363","url":"https://platform.opentargets.org/target/ENSG00000135363/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: breast cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6642","ensembl":"ENSG00000135363","uniprot":"P25791","entrez":"4005","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Royer-Pokora et al, Oncogene, 1991, \"TTG-2, a new gene encoding a cysteine-rich protein with the LIM motif, is overexpressed in acute T-cell leukaemia with the t(11;14)(p13;q11)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1923511/","biology":"Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state. Location: Nucleus (UniProt). Locus 11p13 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"other","prevalence":[]},{"id":"lmo7","kind":"target","name":"LMO7","aka":["LIM domain 7","LIM domain only protein 7","FBX20","KIAA0858","FBXO20"],"tldr":"LMO7 (LIM domain only protein 7) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"UniProt has no function text for Q8WWI1; HGNC names it \"LIM domain 7\".\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.45, affected pathway 0.76, animal model 0.80, genetic association 0.48).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6646","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6646"},{"label":"UniProt Q8WWI1","url":"https://www.uniprot.org/uniprotkb/Q8WWI1/entry"},{"label":"NCBI Gene 4008","url":"https://www.ncbi.nlm.nih.gov/gene/4008"},{"label":"Ensembl ENSG00000136153","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136153"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LMO7","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6646","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6646","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WWI1","url":"https://www.uniprot.org/uniprotkb/Q8WWI1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136153","url":"https://platform.opentargets.org/target/ENSG00000136153/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6646","ensembl":"ENSG00000136153","uniprot":"Q8WWI1","entrez":"4008","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10048485/","biology":"UniProt has no function text for Q8WWI1; HGNC names it \"LIM domain 7\". Locus 13q22.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"lmx1b","kind":"target","name":"LMX1B","aka":["LIM homeobox transcription factor 1 beta","LIM homeobox transcription factor 1-beta","NPS1"],"tldr":"LMX1B (LIM homeobox transcription factor 1-beta) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transcription factor involved in the regulation of podocyte-expressed genes. Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.80, animal model 0.69, genetic association 0.62).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6654","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6654"},{"label":"UniProt O60663","url":"https://www.uniprot.org/uniprotkb/O60663/entry"},{"label":"NCBI Gene 4010","url":"https://www.ncbi.nlm.nih.gov/gene/4010"},{"label":"Ensembl ENSG00000136944","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136944"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LMX1B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6654","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6654","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60663","url":"https://www.uniprot.org/uniprotkb/O60663/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136944","url":"https://platform.opentargets.org/target/ENSG00000136944/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6654","ensembl":"ENSG00000136944","uniprot":"O60663","entrez":"4010","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vollrath et al, Hum. Mol. Genet, 1998, \"Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9618165/","biology":"Transcription factor involved in the regulation of podocyte-expressed genes. Essential for the specification of dorsal limb fate at both the zeugopodal and autopodal levels. Location: Nucleus (UniProt). Locus 9q33.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"lpa","kind":"target","name":"LPA","aka":["lipoprotein(a)","Apolipoprotein(a)","Lp(a)"],"tldr":"LPA (Apolipoprotein(a)) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma.","summary":"Apo(a) is the main constituent of lipoprotein(a) (Lp(a)). It has serine proteinase activity and is able of autoproteolysis. Inhibits tissue-type plasminogen activator 1.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.63, somatic mutation 0.37). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6667","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6667"},{"label":"UniProt P08519","url":"https://www.uniprot.org/uniprotkb/P08519/entry"},{"label":"NCBI Gene 4018","url":"https://www.ncbi.nlm.nih.gov/gene/4018"},{"label":"Ensembl ENSG00000198670","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198670"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LPA","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6667","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6667","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08519","url":"https://www.uniprot.org/uniprotkb/P08519/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198670","url":"https://platform.opentargets.org/target/ENSG00000198670/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"},{"label":"IntOGen LPA","url":"https://www.intogen.org/search?gene=LPA","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6667","ensembl":"ENSG00000198670","uniprot":"P08519","entrez":"4018","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McLean J.W. et al, Nature, 1987, \"cDNA sequence of human apolipoprotein(a) is homologous to plasminogen\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3670400/","biology":"Apo(a) is the main constituent of lipoprotein(a) (Lp(a)). It has serine proteinase activity and is able of autoproteolysis. Inhibits tissue-type plasminogen activator 1. Lp(a) may be a ligand for megalin/Gp 330. Locus 6q25.3-q26 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"lpp","kind":"target","name":"LPP","aka":["LIM domain containing preferred translocation partner in lipoma","Lipoma-preferred partner"],"tldr":"LPP (Lipoma-preferred partner) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Skin cancer, Breast cancer, Non-Hodgkin lymphoma and 4 more.","summary":"May play a structural role at sites of cell adhesion in maintaining cell shape and motility. In addition to these structural functions, it may also be implicated in signalling events and activation of gene transcription. May be involved in signal transduction from cell adhesion sites to the nucleus allowing successful integration of signals arising from soluble factors and cell-cell adhesion sites.\n\nOpen Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes literature 0.93, animal model 0.56, genetic association 0.79, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6679","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6679"},{"label":"UniProt Q93052","url":"https://www.uniprot.org/uniprotkb/Q93052/entry"},{"label":"NCBI Gene 4026","url":"https://www.ncbi.nlm.nih.gov/gene/4026"},{"label":"Ensembl ENSG00000145012","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145012"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","breast-cancer","non-hodgkin-lymphoma","leukaemia","gastric","neuroendocrine","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LPP","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6679","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6679","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q93052","url":"https://www.uniprot.org/uniprotkb/Q93052/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000145012","url":"https://platform.opentargets.org/target/ENSG00000145012/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: gastric cancer 0.50, neuroendocrine neoplasm 0.50, non-Hodgkin lymphoma 0.52, skin cancer 0.63, basal cell carcinoma 0.57, breast cancer 0.57 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6679","ensembl":"ENSG00000145012","uniprot":"Q93052","entrez":"4026","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Petit M.M.R. et al, Genomics, 1996, \"LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel member of the LIM protein gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8812423/","biology":"May play a structural role at sites of cell adhesion in maintaining cell shape and motility. In addition to these structural functions, it may also be implicated in signalling events and activation of gene transcription. May be involved in signal transduction from cell adhesion sites to the nucleus allowing successful integration of signals arising from soluble factors and cell-cell adhesion sites. Also suggested to serve as a scaffold protein upon which distinct protein complexes are assembled in the cytoplasm and in the nucleus. Location: Nucleus; Cytoplasm; Cell junction; Cell membrane (UniProt). Locus 3q27.3-q28 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.63 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254)","Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.50 with gastric cancer (MONDO_0001056)","Neuroendocrine tumours: Open Targets association 0.50 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"transcription","prevalence":[]},{"id":"lratd2","kind":"target","name":"LRATD2","aka":["LRAT domain containing 2","BCMP101","NSE2","FAM84B"],"tldr":"LRATD2 (LRAT domain containing 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"UniProt has no function text for Q96KN1; HGNC names it \"LRAT domain containing 2\".\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.91, animal model 0.32, genetic association 0.77).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24166","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24166"},{"label":"UniProt Q96KN1","url":"https://www.uniprot.org/uniprotkb/Q96KN1/entry"},{"label":"NCBI Gene 157638","url":"https://www.ncbi.nlm.nih.gov/gene/157638"},{"label":"Ensembl ENSG00000168672","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168672"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LRATD2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:24166","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24166","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96KN1","url":"https://www.uniprot.org/uniprotkb/Q96KN1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000168672","url":"https://platform.opentargets.org/target/ENSG00000168672/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:24166","ensembl":"ENSG00000168672","uniprot":"Q96KN1","entrez":"157638","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hughes P.J. et al, 2001, \"A novel NS-containing protein\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96KN1/entry","biology":"UniProt has no function text for Q96KN1; HGNC names it \"LRAT domain containing 2\". Locus 8q24.21 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"lrfn2","kind":"target","name":"LRFN2","aka":["leucine rich repeat and fibronectin type III domain containing 2","Leucine-rich repeat and fibronectin type-III domain-containing protein 2","FIGLER2","KIAA1246","SALM1"],"tldr":"LRFN2 (Leucine-rich repeat and fibronectin type-III domain-containing protein 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Promotes neurite outgrowth in hippocampal neurons. Enhances the cell surface expression of 2 NMDA receptor subunits GRIN1 and GRIN2A. May play a role in redistributing DLG4 to the cell periphery.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.81, animal model 0.55, genetic association 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21226","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21226"},{"label":"UniProt Q9ULH4","url":"https://www.uniprot.org/uniprotkb/Q9ULH4/entry"},{"label":"NCBI Gene 57497","url":"https://www.ncbi.nlm.nih.gov/gene/57497"},{"label":"Ensembl ENSG00000156564","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156564"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LRFN2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:21226","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21226","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9ULH4","url":"https://www.uniprot.org/uniprotkb/Q9ULH4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000156564","url":"https://platform.opentargets.org/target/ENSG00000156564/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:21226","ensembl":"ENSG00000156564","uniprot":"Q9ULH4","entrez":"57497","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10574462/","biology":"Promotes neurite outgrowth in hippocampal neurons. Enhances the cell surface expression of 2 NMDA receptor subunits GRIN1 and GRIN2A. May play a role in redistributing DLG4 to the cell periphery. Location: Membrane; Synapse; Postsynaptic cell membrane (UniProt). Locus 6p21.2-p21.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"lrig3","kind":"target","name":"LRIG3","aka":["leucine rich repeats and immunoglobulin like domains 3","Leucine-rich repeats and immunoglobulin-like domains protein 3","FLJ90440","KIAA3016"],"tldr":"LRIG3 (Leucine-rich repeats and immunoglobulin-like domains protein 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Lung cancer and Non-small-cell lung cancer.","summary":"May play a role in craniofacial and inner ear morphogenesis during embryonic development. May act within the otic vesicle epithelium to control formation of the lateral semicircular canal in the inner ear, possibly by restricting the expression of NTN1.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.03, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30991","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30991"},{"label":"UniProt Q6UXM1","url":"https://www.uniprot.org/uniprotkb/Q6UXM1/entry"},{"label":"NCBI Gene 121227","url":"https://www.ncbi.nlm.nih.gov/gene/121227"},{"label":"Ensembl ENSG00000139263","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139263"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","lung-cancer","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LRIG3","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30991","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30991","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6UXM1","url":"https://www.uniprot.org/uniprotkb/Q6UXM1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000139263","url":"https://platform.opentargets.org/target/ENSG00000139263/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.53, lung cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen LRIG3","url":"https://www.intogen.org/search?gene=LRIG3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30991","ensembl":"ENSG00000139263","uniprot":"Q6UXM1","entrez":"121227","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Clark H.F. et al, Genome Res, 2003, \"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12975309/","biology":"May play a role in craniofacial and inner ear morphogenesis during embryonic development. May act within the otic vesicle epithelium to control formation of the lateral semicircular canal in the inner ear, possibly by restricting the expression of NTN1. Location: Cell membrane; Cytoplasmic vesicle membrane (UniProt). Locus 12q14.1 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Lung cancer: Open Targets association 0.55 with lung cancer (MONDO_0008903)","Non-small-cell lung cancer: Open Targets association 0.53 with non-small cell lung carcinoma (MONDO_0005233)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"lrp1b","kind":"target","name":"LRP1B","aka":["LDL receptor related protein 1B","Low-density lipoprotein receptor-related protein 1B","LRP-DIT","LRPDIT"],"tldr":"LRP1B (Low-density lipoprotein receptor-related protein 1B) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Prostate cancer, Pancreatic ductal adenocarcinoma and 5 more.","summary":"Potential cell surface proteins that bind and internalise ligands in the process of receptor-mediated endocytosis.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 4 variants, naming Immune Checkpoint Inhibitor and Doxorubicin. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.76, genetic association 0.44, somatic mutation 0.88). IntOGen calls it a driver in 70 cohorts (39 activating, 27 loss-of-function), covering Acute Myeloid Leukaemia, Basal Cell Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6693","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6693"},{"label":"UniProt Q9NZR2","url":"https://www.uniprot.org/uniprotkb/Q9NZR2/entry"},{"label":"NCBI Gene 53353","url":"https://www.ncbi.nlm.nih.gov/gene/53353"},{"label":"Ensembl ENSG00000168702","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168702"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","prostate","pancreatic","skin-cancer","esophageal","breast-cancer","colorectal","head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 39 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 27 cohorts; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LRP1B","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6693","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6693","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZR2","url":"https://www.uniprot.org/uniprotkb/Q9NZR2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene LRP1B","url":"https://civicdb.org/features/12146","note":"4 evidence items, 0 assertions, 4 variants; diseases: Glioblastoma, Ovarian Cancer, Lung Adenocarcinoma, Solid Tumour (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000168702","url":"https://platform.opentargets.org/target/ENSG00000168702/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.62, gastric cancer 0.55, oesophageal cancer 0.53, prostate cancer 0.56, ovarian cancer 0.55, melanoma 0.66 (GraphQL API, CC0)"},{"label":"IntOGen LRP1B","url":"https://www.intogen.org/search?gene=LRP1B","note":"driver in 70 cohorts (Act 39, LoF 27); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA LRP1B: RNA tissue enhanced (brain 9 nTPM, thyroid gland 5 nTPM); no normal tissue stained high; highest cancer staining liver cancer (5 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Prostate cancer, Pancreatic ductal adenocarcinoma, Skin cancer (all types), Oesophageal cancer, Breast cancer (all types), Colorectal cancer and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9NZR2","url":"https://www.uniprot.org/uniprotkb/Q9NZR2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene LRP1B","url":"https://civicdb.org/features/12146","note":"4 evidence items, 0 assertions, 4 variants; diseases: Glioblastoma, Ovarian Cancer, Lung Adenocarcinoma, Solid Tumour (GraphQL API, CC0)"},{"label":"IntOGen LRP1B","url":"https://www.intogen.org/search?gene=LRP1B","note":"driver in 70 cohorts (Act 39, LoF 27); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas LRP1B tissue","url":"https://www.proteinatlas.org/ENSG00000168702-LRP1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000168702 associations","url":"https://platform.opentargets.org/target/ENSG00000168702/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6693","ensembl":"ENSG00000168702","uniprot":"Q9NZR2","entrez":"53353","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Liu C.-X. et al, Cancer Res, 2000, \"LRP-DIT, a putative endocytic receptor gene, is frequently inactivated in non-small cell lung cancer cell lines\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10766186/","biology":"Potential cell surface proteins that bind and internalise ligands in the process of receptor-mediated endocytosis. Location: Membrane (UniProt). Locus 2q22.1-q22.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.67 with lung cancer (MONDO_0008903)","Prostate cancer: Open Targets association 0.56 with prostate cancer (MONDO_0008315); IntOGen driver in 7 cohorts (PRAD)","Pancreatic ductal adenocarcinoma: IntOGen driver in 5 cohorts (PAAD, PANCREAS)","Skin cancer: Open Targets association 0.64 with skin cancer (MONDO_0002898); IntOGen driver in 1 cohort (SKIN)","Oesophageal cancer: Open Targets association 0.53 with oesophageal cancer (MONDO_0007576); IntOGen driver in 4 cohorts (ESCA)","Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254); IntOGen driver in 4 cohorts (BRCA)"],"targetClass":"oncogene","prevalence":[]},{"id":"lrp5","kind":"target","name":"LRP5","aka":["LDL receptor related protein 5","Low-density lipoprotein receptor-related protein 5","LR3","BMND1","OPTA1","VBCH2","EVR4","LRP7","EVR1"],"tldr":"LRP5 (Low-density lipoprotein receptor-related protein 5) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins. Activates the canonical Wnt signalling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration. In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.91, affected pathway 0.83, animal model 0.60, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6697","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6697"},{"label":"UniProt O75197","url":"https://www.uniprot.org/uniprotkb/O75197/entry"},{"label":"NCBI Gene 4041","url":"https://www.ncbi.nlm.nih.gov/gene/4041"},{"label":"Ensembl ENSG00000162337","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162337"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["wnt"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LRP5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6697","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6697","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75197","url":"https://www.uniprot.org/uniprotkb/O75197/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000162337","url":"https://platform.opentargets.org/target/ENSG00000162337/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6697","ensembl":"ENSG00000162337","uniprot":"O75197","entrez":"4041","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dong et al, Biochem. Biophys. Res. Commun, 1998, \"Molecular cloning and characterization of LR3, a novel LDL receptor family protein with mitogenic activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9790987/","biology":"Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins. Activates the canonical Wnt signalling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration. In particular, may play an important role in the development of the posterior patterning of the epiblast during gastrulation. During bone development, regulates osteoblast proliferation and differentiation thus determining bone mass. Mechanistically, the formation of the signalling complex between Wnt ligand, frizzled receptor and LRP5 coreceptor promotes the recruitment of AXIN1 to LRP5, stabilising beta-catenin/CTNNB1 and activating TCF/LEF-mediated transcriptional programs. Acts as a coreceptor for non-Wnt proteins, such as norrin/NDP. Location: Membrane; Endoplasmic reticulum (UniProt). Locus 11q13.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"lrrfip1","kind":"target","name":"LRRFIP1","aka":["LRR binding FLII interacting protein 1","Leucine-rich repeat flightless-interacting protein 1","FLAP-1","FLIIAP1","GCF-2","HUFI-1","GCF2"],"tldr":"LRRFIP1 (Leucine-rich repeat flightless-interacting protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia.","summary":"Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5'-AGCCCCCGGCG-3') and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.83, affected pathway 0.94, genetic association 0.37).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6702","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6702"},{"label":"UniProt Q32MZ4","url":"https://www.uniprot.org/uniprotkb/Q32MZ4/entry"},{"label":"NCBI Gene 9208","url":"https://www.ncbi.nlm.nih.gov/gene/9208"},{"label":"Ensembl ENSG00000124831","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124831"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LRRFIP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6702","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6702","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q32MZ4","url":"https://www.uniprot.org/uniprotkb/Q32MZ4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000124831","url":"https://platform.opentargets.org/target/ENSG00000124831/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: leukaemia 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6702","ensembl":"ENSG00000124831","uniprot":"Q32MZ4","entrez":"9208","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Reed A.L. et al, J. Biol. Chem, 1998, \"Molecular cloning and characterization of a transcription regulator with homology to GC-binding factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9705290/","biology":"Transcriptional repressor which preferentially binds to the GC-rich consensus sequence (5'-AGCCCCCGGCG-3') and may regulate expression of TNF, EGFR and PDGFA. May control smooth muscle cells proliferation following artery injury through PDGFA repression. May also bind double-stranded RNA. Positively regulates Toll-like receptor (TLR) signalling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding. Location: Nucleus; Cytoplasm (UniProt). Locus 2q37.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)"],"targetClass":"transcription","prevalence":[]},{"id":"lsm14a","kind":"target","name":"LSM14A","aka":["LSM14A mRNA processing body assembly factor","Protein LSM14 homolog A","DKFZP434D1335","RAP55A","RAP55","C19orf13","FAM61A"],"tldr":"LSM14A (Protein LSM14 homolog A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Endometrial cancer.","summary":"Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for translationally inactive mRNAs and protect them from degradation. Acts as a repressor of mRNA translation. May play a role in mitotic spindle assembly.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24489","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24489"},{"label":"UniProt Q8ND56","url":"https://www.uniprot.org/uniprotkb/Q8ND56/entry"},{"label":"NCBI Gene 26065","url":"https://www.ncbi.nlm.nih.gov/gene/26065"},{"label":"Ensembl ENSG00000257103","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000257103"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LSM14A","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24489","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24489","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8ND56","url":"https://www.uniprot.org/uniprotkb/Q8ND56/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen LSM14A","url":"https://www.intogen.org/search?gene=LSM14A","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:24489","ensembl":"ENSG00000257103","uniprot":"Q8ND56","entrez":"26065","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeda et al, 2001, \"Possible alpha synuclein binding protein\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8ND56/entry","biology":"Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for translationally inactive mRNAs and protect them from degradation. Acts as a repressor of mRNA translation. May play a role in mitotic spindle assembly. Location: Cytoplasm, P-body; Cytoplasm, cytoskeleton, spindle; Cytoplasm, Stress granule (UniProt). Locus 19q13.11 (HGNC).","whereFound":["Endometrial cancer: IntOGen driver in 1 cohort (UCEC)"],"targetClass":"oncogene","prevalence":[]},{"id":"lsp1","kind":"target","name":"LSP1","aka":["lymphocyte specific protein 1","Lymphocyte-specific protein 1","WP34"],"tldr":"LSP1 (Lymphocyte-specific protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"May play a role in mediating neutrophil activation and chemotaxis.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6707","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6707"},{"label":"UniProt P33241","url":"https://www.uniprot.org/uniprotkb/P33241/entry"},{"label":"NCBI Gene 4046","url":"https://www.ncbi.nlm.nih.gov/gene/4046"},{"label":"Ensembl ENSG00000130592","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130592"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LSP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6707","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6707","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P33241","url":"https://www.uniprot.org/uniprotkb/P33241/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000130592","url":"https://platform.opentargets.org/target/ENSG00000130592/associations","note":"association with cancer (MONDO_0004992) 0.53; per-cancer scores at or above 0.5: breast cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6707","ensembl":"ENSG00000130592","uniprot":"P33241","entrez":"4046","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jongstra-Bilen et al, J. Immunol, 1990, \"Human and mouse LSP1 genes code for highly conserved phosphoproteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2295815/","biology":"May play a role in mediating neutrophil activation and chemotaxis. Location: Cell membrane (UniProt). Locus 11p15.5 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.50 with breast cancer (MONDO_0007254)"],"targetClass":"other","prevalence":[]},{"id":"ltb","kind":"target","name":"LTB","aka":["lymphotoxin beta","Lymphotoxin-beta","p33","TNFSF3"],"tldr":"LTB (Lymphotoxin-beta) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Cytokine that binds to LTBR/TNFRSF3. May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6711","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6711"},{"label":"UniProt Q06643","url":"https://www.uniprot.org/uniprotkb/Q06643/entry"},{"label":"NCBI Gene 4050","url":"https://www.ncbi.nlm.nih.gov/gene/4050"},{"label":"Ensembl ENSG00000227507","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000227507"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LTB","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6711","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6711","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06643","url":"https://www.uniprot.org/uniprotkb/Q06643/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene LTB","url":"https://civicdb.org/features/3342","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA LTB: RNA group enriched (intestine 62 nTPM, lymphoid tissue 220 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas LTB tissue","url":"https://www.proteinatlas.org/ENSG00000227507-LTB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000227507 associations","url":"https://platform.opentargets.org/target/ENSG00000227507/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6711","ensembl":"ENSG00000227507","uniprot":"Q06643","entrez":"4050","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Browning J.L. et al, Cell, 1993, \"Lymphotoxin beta, a novel member of the TNF family that forms a heteromeric complex with lymphotoxin on the cell surface\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7916655/","biology":"Cytokine that binds to LTBR/TNFRSF3. May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface. Isoform 2 is probably non-functional. Location: Membrane (UniProt). Locus 6p21.33 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"lyl1","kind":"target","name":"LYL1","aka":["LYL1 basic helix-loop-helix family member","bHLHa18"],"tldr":"LYL1 (LYL1 basic helix-loop-helix family member) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"Transcriptional coactivator that interacts with CREB1 and activates several CREB1-responsive genes.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.76, animal model 0.49, genetic association 0.15, somatic mutation 0.94).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6734","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6734"},{"label":"UniProt P12980","url":"https://www.uniprot.org/uniprotkb/P12980/entry"},{"label":"NCBI Gene 4066","url":"https://www.ncbi.nlm.nih.gov/gene/4066"},{"label":"Ensembl ENSG00000104903","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104903"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LYL1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6734","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6734","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12980","url":"https://www.uniprot.org/uniprotkb/P12980/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104903","url":"https://platform.opentargets.org/target/ENSG00000104903/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6734","ensembl":"ENSG00000104903","uniprot":"P12980","entrez":"4066","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mellentin J.D. et al, Cell, 1989, \"lyl-1, a novel gene altered by chromosomal translocation in T cell leukemia, codes for a protein with a helix-loop-helix DNA binding motif\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2752424/","biology":"Transcriptional coactivator that interacts with CREB1 and activates several CREB1-responsive genes. Location: Nucleus (UniProt). Locus 19p13.13 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"lyn","kind":"target","name":"LYN kinase","aka":[],"tldr":"LYN is a SRC-family kinase that sits under the B-cell receptor; dasatinib and bosutinib inhibit it alongside BCR-ABL, and LYN over-activity is one way chronic myeloid leukaemia escapes imatinib.","summary":"LYN is a SRC-family tyrosine kinase expressed in B cells and myeloid cells, where it both amplifies and restrains signalling from the B-cell receptor and cytokine receptors. In chronic myeloid leukaemia, over-expression of LYN is a recognised mechanism of imatinib resistance that does not involve a BCR-ABL mutation, and the second-generation inhibitors dasatinib and bosutinib block LYN and other SRC kinases directly. LYN is also constitutively active in chronic lymphocytic leukaemia cells, contributing to their survival.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/LYN_(gene)","links":[{"label":"UniProt P07948: LYN","url":"https://www.uniprot.org/uniprotkb/P07948/entry"},{"label":"HGNC:6735 LYN","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6735"},{"label":"ChEMBL target CHEMBL3905","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL3905"}],"tags":["chembl-gap"],"related":["bcr-abl","src"],"cancers":["cml","cll","aml"],"sections":[],"technologies":[],"targets":[],"drugs":["dasatinib","bosutinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"LYN","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal bone marrow cells and lymphoid tissue cells: HPA finds the gene tissue enhanced in bone marrow, lymphoid tissue, and the 2 medicines aimed at it (Dasatinib, Bosutinib) act on the wild-type protein, so the normal lineage is hit too. HPA LYN: RNA tissue enhanced (bone marrow 70 nTPM, lymphoid tissue 80 nTPM); high antibody staining in 4 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 2 specific cancer types at or above 0.5 (chronic myeloid leukemia, acute lymphoblastic leukemia); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas LYN tissue","url":"https://www.proteinatlas.org/ENSG00000254087-LYN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas LYN pathology","url":"https://www.proteinatlas.org/ENSG00000254087-LYN/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000254087 associations","url":"https://platform.opentargets.org/target/ENSG00000254087/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6735","ensembl":"ENSG00000254087","uniprot":"P07948","entrez":"4067","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamanashi et al, Mol. Cell. Biol, 1987, \"The yes-related cellular gene lyn encodes a possible tyrosine kinase similar to p56lck\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3561390/","biology":"A membrane-anchored non-receptor tyrosine kinase; it phosphorylates immunoreceptor tyrosine motifs to start SYK signalling and also activates inhibitory phosphatases, giving it dual roles.","whereFound":["B lymphocytes and myeloid cells","Imatinib-resistant CML and CLL cells"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (LYN kinase under the B-cell receptor); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"lztr1","kind":"target","name":"LZTR1","aka":["leucine zipper like post translational regulator 1","Leucine-zipper-like transcriptional regulator 1","LZTR-1","BTBD29"],"tldr":"LZTR1 (Leucine-zipper-like transcriptional regulator 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma, Prostate cancer, Endometrial cancer and 5 more.","summary":"Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras GTPases (M-Ras/MRAS, K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) and Ras-like protein RIT1. Acts as a negative regulator of RAS-MAPK signalling by controlling Ras levels and decreasing Ras association with membranes.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes genetic literature 0.38, literature 0.90, genetic association 0.64, somatic mutation 0.94, animal model 0.37). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Glioblastoma Multiforme, Hepatocellular Carcinoma, Prostate Adenocarcinoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6742","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6742"},{"label":"UniProt Q8N653","url":"https://www.uniprot.org/uniprotkb/Q8N653/entry"},{"label":"NCBI Gene 8216","url":"https://www.ncbi.nlm.nih.gov/gene/8216"},{"label":"Ensembl ENSG00000099949","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000099949"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["hcc","prostate","endometrial","skin-cancer","lung-cancer","breast-cancer","glioblastoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Schwannomatosis."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"LZTR1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6742","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6742","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8N653","url":"https://www.uniprot.org/uniprotkb/Q8N653/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene LZTR1","url":"https://civicdb.org/features/6523","note":"2 evidence items, 0 assertions, 2 variants; diseases: Schwannomatosis (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000099949","url":"https://platform.opentargets.org/target/ENSG00000099949/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: melanoma 0.55, skin cancer 0.57, breast cancer 0.51, lung cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen LZTR1","url":"https://www.intogen.org/search?gene=LZTR1","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA LZTR1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining endometrial cancer (1 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma, Prostate cancer, Endometrial cancer, Skin cancer (all types), Lung cancer (all types), Breast cancer (all types), Brain and spinal cord tumours (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (schwannomatosis, LZTR1-related schwannomatosis, hereditary neoplastic syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q8N653","url":"https://www.uniprot.org/uniprotkb/Q8N653/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene LZTR1","url":"https://civicdb.org/features/6523","note":"2 evidence items, 0 assertions, 2 variants; diseases: Schwannomatosis (GraphQL API, CC0)"},{"label":"IntOGen LZTR1","url":"https://www.intogen.org/search?gene=LZTR1","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas LZTR1 tissue","url":"https://www.proteinatlas.org/ENSG00000099949-LZTR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000099949 associations","url":"https://platform.opentargets.org/target/ENSG00000099949/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6742","ensembl":"ENSG00000099949","uniprot":"Q8N653","entrez":"8216","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kurahashi et al, Hum. Mol. Genet, 1995, \"Isolation and characterization of a novel gene deleted in DiGeorge syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7633402/","biology":"Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras GTPases (M-Ras/MRAS, K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) and Ras-like protein RIT1. Acts as a negative regulator of RAS-MAPK signalling by controlling Ras levels and decreasing Ras association with membranes. Location: Endomembrane system; Recycling endosome; Golgi apparatus (UniProt). Locus 22q11.21 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"macc1","kind":"target","name":"MACC1","aka":["MET transcriptional regulator MACC1","Metastasis-associated in colon cancer protein 1","7A5","SH3BP4L"],"tldr":"MACC1 (Metastasis-associated in colon cancer protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"Acts as a transcription activator for MET and as a key regulator of HGF-MET signalling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumour growth and metastasis in vivo.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30215","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30215"},{"label":"UniProt Q6ZN28","url":"https://www.uniprot.org/uniprotkb/Q6ZN28/entry"},{"label":"NCBI Gene 346389","url":"https://www.ncbi.nlm.nih.gov/gene/346389"},{"label":"Ensembl ENSG00000183742","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183742"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MACC1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30215","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30215","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6ZN28","url":"https://www.uniprot.org/uniprotkb/Q6ZN28/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MACC1","url":"https://www.intogen.org/search?gene=MACC1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30215","ensembl":"ENSG00000183742","uniprot":"Q6ZN28","entrez":"346389","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Scherer S.W. et al, Science, 2003, \"Human chromosome 7: DNA sequence and biology\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12690205/","biology":"Acts as a transcription activator for MET and as a key regulator of HGF-MET signalling. Promotes cell motility, proliferation and hepatocyte growth factor (HGF)-dependent scattering in vitro and tumour growth and metastasis in vivo. Location: Cytoplasm; Nucleus (UniProt). Locus 7p21.1 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"maf","kind":"target","name":"MAF","aka":["MAF bZIP transcription factor","Transcription factor Maf","c-MAF"],"tldr":"MAF (Transcription factor Maf) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer and Multiple myeloma.","summary":"Acts as a transcriptional activator or repressor. Involved in embryonic lens fibre cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fibre cell differentiation.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes affected pathway 0.38, literature 0.82, genetic association 0.54, somatic mutation 0.81, animal model 0.76). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6776"},{"label":"UniProt O75444","url":"https://www.uniprot.org/uniprotkb/O75444/entry"},{"label":"NCBI Gene 4094","url":"https://www.ncbi.nlm.nih.gov/gene/4094"},{"label":"Ensembl ENSG00000178573","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178573"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAF","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6776","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75444","url":"https://www.uniprot.org/uniprotkb/O75444/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000178573","url":"https://platform.opentargets.org/target/ENSG00000178573/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: colorectal cancer 0.59 (GraphQL API, CC0)"},{"label":"IntOGen MAF","url":"https://www.intogen.org/search?gene=MAF","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6776","ensembl":"ENSG00000178573","uniprot":"O75444","entrez":"4094","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chesi et al, Blood, 1998, \"Frequent dysregulation of the c-maf proto-oncogene at 16q23 by translocation to an Ig locus in multiple myeloma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9616139/","biology":"Acts as a transcriptional activator or repressor. Involved in embryonic lens fibre cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fibre cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Location: Nucleus (UniProt). Locus 16q23.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.59 with colorectal cancer (MONDO_0005575)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"oncogene","prevalence":[]},{"id":"mafb","kind":"target","name":"MAFB","aka":["MAF bZIP transcription factor B","Transcription factor MafB"],"tldr":"MAFB (Transcription factor MafB) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage-specific haematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.89, animal model 0.26, genetic association 0.27, somatic mutation 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6408","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6408"},{"label":"UniProt Q9Y5Q3","url":"https://www.uniprot.org/uniprotkb/Q9Y5Q3/entry"},{"label":"NCBI Gene 9935","url":"https://www.ncbi.nlm.nih.gov/gene/9935"},{"label":"Ensembl ENSG00000204103","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204103"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAFB","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6408","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6408","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y5Q3","url":"https://www.uniprot.org/uniprotkb/Q9Y5Q3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000204103","url":"https://platform.opentargets.org/target/ENSG00000204103/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: colorectal cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6408","ensembl":"ENSG00000204103","uniprot":"Q9Y5Q3","entrez":"9935","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang P.W. et al, Genomics, 1999, \"Human KRML (MAFB): cDNA cloning, genomic structure, and evaluation as a candidate tumor suppressor gene in myeloid leukemias\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10444328/","biology":"Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage-specific haematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. Location: Nucleus (UniProt). Locus 20q12 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"mage-a4","kind":"target","name":"MAGE-A4","aka":[],"tldr":"A protein normally only in testis that some sarcomas and other tumours switch on; T cells can be engineered to recognise fragments of it.","summary":"MAGE-A4 is a cancer-testis antigen: an intracellular protein normally confined to testis that some tumours switch back on. It is presented on the cell surface only as peptide fragments in HLA, chiefly HLA-A*02, so it cannot be reached by antibodies or conventional CAR-T and is targetable only through T-cell receptor based approaches. Afamitresgene autoleucel (Tecelra), the first TCR-T therapy approved for a solid tumour (synovial sarcoma, 2024), recognises a MAGE-A4 peptide. Expression is seen in roughly 60 to 80 percent of synovial sarcomas and in myxoid liposarcoma, with subsets of squamous lung, ovarian and gastric cancers, but patients must also carry HLA-A*02, which about 40 to 45 percent of the population do. Durability of responses and extension beyond sarcoma are the open questions. Think of it as a hidden protein that engineered T cells can be taught to spot in fragments.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/MAGEA4","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/MAGEA4"}],"tags":["tcr-target"],"related":[],"cancers":["sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":["afamitresgene-autoleucel"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"MAGEA4","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (Afamitresgene autoleucel) aim at the antigen, which HPA finds stained high in 1 normal tissue; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA MAGEA4: RNA tissue enriched (testis 21 nTPM); high antibody staining in 1 normal tissue; highest cancer staining testis cancer (4 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MAGEA4 tissue","url":"https://www.proteinatlas.org/ENSG00000147381-MAGEA4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MAGEA4 pathology","url":"https://www.proteinatlas.org/ENSG00000147381-MAGEA4/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147381 associations","url":"https://platform.opentargets.org/target/ENSG00000147381/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6802","ensembl":"ENSG00000147381","uniprot":"P43358","entrez":"4103","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: De Plaen et al, Immunogenetics, 1994, \"Structure, chromosomal localization, and expression of 12 genes of the MAGE family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7927540/","biology":"Intracellular; presented as peptide-HLA complex.","whereFound":["Synovial sarcoma","Myxoid liposarcoma","NSCLC, ovarian, gastric (subsets)"],"targetClass":"other","prevalence":[{"cancerId":"sarcoma","pct":"60-80","measure":"Synovial sarcoma, IHC/RNA","source":"https://en.wikipedia.org/wiki/MAGEA4","note":"HLA-A*02 needed for TCR-T; ~40-45% of population"},{"cancerId":"nsclc","pct":"20-30","measure":"Squamous enriched","source":"https://en.wikipedia.org/wiki/MAGEA4"}]},{"id":"mageh1","kind":"target","name":"MAGEH1","aka":["MAGE family member H1","Melanoma-associated antigen H1","APR1"],"tldr":"MAGEH1 (Melanoma-associated antigen H1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"UniProt has no function text for Q9H213; HGNC names it \"MAGE family member H1\".\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Gemcitabine.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24092","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24092"},{"label":"UniProt Q9H213","url":"https://www.uniprot.org/uniprotkb/Q9H213/entry"},{"label":"NCBI Gene 28986","url":"https://www.ncbi.nlm.nih.gov/gene/28986"},{"label":"Ensembl ENSG00000187601","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187601"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Bile Duct Adenocarcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAGEH1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:24092","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24092","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H213","url":"https://www.uniprot.org/uniprotkb/Q9H213/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MAGEH1","url":"https://civicdb.org/features/11261","note":"1 evidence items, 0 assertions, 1 variants; diseases: Bile Duct Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MAGEH1: RNA tissue enriched (epididymis 487 nTPM); no normal tissue stained high; highest cancer staining lymphoma (6 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MAGEH1 tissue","url":"https://www.proteinatlas.org/ENSG00000187601-MAGEH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187601 associations","url":"https://platform.opentargets.org/target/ENSG00000187601/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:24092","ensembl":"ENSG00000187601","uniprot":"Q9H213","entrez":"28986","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhu et al, BioTechniques, 2000, \"Improved PCR-based subtractive hybridization strategy for cloning differentially expressed genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10948432/","biology":"UniProt has no function text for Q9H213; HGNC names it \"MAGE family member H1\". Locus Xp11.21 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"malt1","kind":"target","name":"MALT1","aka":["MALT1 paracaspase","Mucosa-associated lymphoid tissue lymphoma translocation protein 1","PCASP1"],"tldr":"MALT1 (Mucosa-associated lymphoid tissue lymphoma translocation protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer and Diffuse large B-cell lymphoma.","summary":"Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signalling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines. Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion. Involved in the induction of T helper 17 cells (Th17) differentiation.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.04, somatic mutation 0.97). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6819","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6819"},{"label":"UniProt Q9UDY8","url":"https://www.uniprot.org/uniprotkb/Q9UDY8/entry"},{"label":"NCBI Gene 10892","url":"https://www.ncbi.nlm.nih.gov/gene/10892"},{"label":"Ensembl ENSG00000172175","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172175"},{"label":"Liu et al., Gastroenterology 2002: t(11;18) marks gastric MALT lymphomas that will not respond to Helicobacter pylori eradication (111 patients)","url":"https://doi.org/10.1053/gast.2002.33047"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","inflammation-nfkb","microbiome-tumour"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, t(11;18) API2-MALT1 and the NF-kB lesions of marginal zone lymphoma: Gastric MALT lymphoma begins as a Helicobacter-driven proliferation that still needs the antigen; removing the bacterium removes the stimulus and the lymphoma regresses. The t(11;18) fuses API2 to MALT1 and produces a protein that activates NF-kB on its own, so the lymphoma no longer needs the antigen and no longer cares whether the bacterium is still there. The related translocations, t(1;14) involving BCL10 and t(14;18) involving MALT1, do the same job by a different route, and inactivation of TNFAIP3 removes the brake. Frequency: Among 111 patients with Helicobacter-positive gastric MALT lymphoma treated with antibiotics, the translocation separated the responders from the non-responders: 47 of the 48 patients who regressed completely were negative for the API2-MALT1 transcript (Liu 2002). What it changes about treatment: Yes, and this is one of the few places where a translocation result changes the first decision. A t(11;18)-positive gastric MALT lymphoma should not be treated with eradication alone, whatever the stage; a negative one usually can be."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MALT1","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6819","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6819","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UDY8","url":"https://www.uniprot.org/uniprotkb/Q9UDY8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172175","url":"https://platform.opentargets.org/target/ENSG00000172175/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: skin cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen MALT1","url":"https://www.intogen.org/search?gene=MALT1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6819","ensembl":"ENSG00000172175","uniprot":"Q9UDY8","entrez":"10892","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dierlamm et al, Blood, 1999, \"The apoptosis inhibitor gene API2 and a novel 18q gene, MLT, are recurrently rearranged in the t(11;18)(q21;q21) associated with mucosa-associated lymphoid tissue lymphomas\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10339464/","biology":"Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signalling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines. Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen receptor-induced integrin adhesion. Involved in the induction of T helper 17 cells (Th17) differentiation. Cleaves RC3H1 and ZC3H12A in response to T-cell receptor (TCR) stimulation which releases their cooperatively repressed targets to promote Th17 cell differentiation. Also mediates cleavage of N4BP1 in T-cells following TCR-mediated activation, leading to N4BP1 inactivation. May also have ubiquitin ligase activity: binds to TRAF6, inducing TRAF6 oligomerisation and activation of its ligase activity. Location: Cytoplasm, perinuclear region; Nucleus (UniProt). Locus 18q21.32 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"oncogene","prevalence":[]},{"id":"maml1","kind":"target","name":"MAML1","aka":["mastermind like transcriptional coactivator 1","Mastermind-like protein 1","KIAA0200","Mam-1"],"tldr":"MAML1 (Mastermind-like protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.88, affected pathway 0.94, genetic association 0.00, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13632","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13632"},{"label":"UniProt Q92585","url":"https://www.uniprot.org/uniprotkb/Q92585/entry"},{"label":"NCBI Gene 9794","url":"https://www.ncbi.nlm.nih.gov/gene/9794"},{"label":"Ensembl ENSG00000161021","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000161021"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAML1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13632","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13632","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92585","url":"https://www.uniprot.org/uniprotkb/Q92585/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000161021","url":"https://platform.opentargets.org/target/ENSG00000161021/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:13632","ensembl":"ENSG00000161021","uniprot":"Q92585","entrez":"9794","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1996, \"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8724849/","biology":"Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation at NOTCH enhancers and activates transcription. Induces phosphorylation and localisation of CREBBP to nuclear foci. Plays a role in haematopoietic development by regulating NOTCH-mediated lymphoid cell fate decisions. Location: Nucleus speckle (UniProt). Locus 5q35.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"maml2","kind":"target","name":"MAML2","aka":["mastermind like transcriptional coactivator 2","Mastermind-like protein 2","KIAA1819","MAM3"],"tldr":"MAML2 (Mastermind-like protein 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Lung cancer, Vulvar cancer, Breast cancer and 5 more.","summary":"Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3.\n\nOpen Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes literature 0.91, affected pathway 0.94, genetic association 0.31, somatic mutation 0.89). IntOGen calls it a driver in 3 cohorts (0 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Lung Squamous Cell Carcinoma, Vulva/Vagina.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16259","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16259"},{"label":"UniProt Q8IZL2","url":"https://www.uniprot.org/uniprotkb/Q8IZL2/entry"},{"label":"NCBI Gene 84441","url":"https://www.ncbi.nlm.nih.gov/gene/84441"},{"label":"Ensembl ENSG00000184384","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184384"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","vulvar","breast-cancer","skin-cancer","mucoepidermoid-carcinoma","nsclc","aml","oral-cavity-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAML2","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:16259","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16259","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IZL2","url":"https://www.uniprot.org/uniprotkb/Q8IZL2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184384","url":"https://platform.opentargets.org/target/ENSG00000184384/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.51, skin cancer 0.52, breast cancer 0.55, lung cancer 0.60, oral cavity cancer 0.56, mucoepidermoid carcinoma 0.58 (GraphQL API, CC0)"},{"label":"IntOGen MAML2","url":"https://www.intogen.org/search?gene=MAML2","note":"driver in 3 cohorts (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:16259","ensembl":"ENSG00000184384","uniprot":"Q8IZL2","entrez":"84441","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11347906/","biology":"Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3. Location: Nucleus speckle (UniProt). Locus 11q21 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Vulvar cancer: IntOGen driver in 1 cohort (VULVA)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Mucoepidermoid carcinoma: Open Targets association 0.58 with mucoepidermoid carcinoma (MONDO_0003036)","Non-small-cell lung cancer: Open Targets association 0.51 with non-small cell lung carcinoma (MONDO_0005233); IntOGen driver in 1 cohort (LUSC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"maml3","kind":"target","name":"MAML3","aka":["mastermind like transcriptional coactivator 3","Mastermind-like protein 3","KIAA1816","MAM2","CAGH3","TNRC3"],"tldr":"MAML3 (Mastermind-like protein 3) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.30, affected pathway 0.94, genetic association 0.56).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16272","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16272"},{"label":"UniProt Q96JK9","url":"https://www.uniprot.org/uniprotkb/Q96JK9/entry"},{"label":"NCBI Gene 55534","url":"https://www.ncbi.nlm.nih.gov/gene/55534"},{"label":"Ensembl ENSG00000196782","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196782"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAML3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16272","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16272","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96JK9","url":"https://www.uniprot.org/uniprotkb/Q96JK9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196782","url":"https://platform.opentargets.org/target/ENSG00000196782/associations","note":"association with cancer (MONDO_0004992) 0.68;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16272","ensembl":"ENSG00000196782","uniprot":"Q96JK9","entrez":"55534","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11347906/","biology":"Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Location: Nucleus speckle (UniProt). Locus 4q31.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"mamld1","kind":"target","name":"MAMLD1","aka":["mastermind like domain containing 1","Mastermind-like domain-containing protein 1","CG1","F18","CXorf6"],"tldr":"MAMLD1 (Mastermind-like domain-containing protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes affected pathway 0.94, literature 0.12, genetic association 0.00, somatic mutation 0.23, animal model 0.35).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2568","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2568"},{"label":"UniProt Q13495","url":"https://www.uniprot.org/uniprotkb/Q13495/entry"},{"label":"NCBI Gene 10046","url":"https://www.ncbi.nlm.nih.gov/gene/10046"},{"label":"Ensembl ENSG00000013619","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000013619"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAMLD1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:2568","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2568","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13495","url":"https://www.uniprot.org/uniprotkb/Q13495/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000013619","url":"https://platform.opentargets.org/target/ENSG00000013619/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:2568","ensembl":"ENSG00000013619","uniprot":"Q13495","entrez":"10046","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Laporte et al, Nat. Genet, 1996, \"A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8640223/","biology":"Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ. Location: Nucleus (UniProt). Locus Xq28 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"map2k4","kind":"target","name":"MAP2K4","aka":["mitogen-activated protein kinase kinase 4","Dual specificity mitogen-activated protein kinase kinase 4","MEK4","JNKK1","PRKMK4","MKK4","MAPKK4","SAPKK1","SKK1","SEK1","SERK1"],"tldr":"MAP2K4 is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signalling pathway. With MAP2K7/MKK7, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Selumetinib and PLX8725. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.95, animal model 0.27, genetic association 0.29, somatic mutation 0.97). IntOGen calls it a driver in 15 cohorts (4 activating, 11 loss-of-function), covering Invasive Breast Carcinoma, Cholangiocarcinoma, Colorectal Adenocarcinoma, Oesophagogastric Adenocarcinoma, Oesophageal Squamous Cell Carcinoma, Hepatocellular Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6844","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6844"},{"label":"UniProt P45985","url":"https://www.uniprot.org/uniprotkb/P45985/entry"},{"label":"NCBI Gene 6416","url":"https://www.ncbi.nlm.nih.gov/gene/6416"},{"label":"Ensembl ENSG00000065559","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000065559"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","colorectal","pancreatic","gastric","esophageal","hcc","skin-cancer","biliary-tract-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 11 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Uterus Leiomyosarcoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAP2K4","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6844","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6844","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P45985","url":"https://www.uniprot.org/uniprotkb/P45985/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MAP2K4","url":"https://civicdb.org/features/5200","note":"2 evidence items, 0 assertions, 2 variants; diseases: Cancer, Uterus Leiomyosarcoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000065559","url":"https://platform.opentargets.org/target/ENSG00000065559/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: melanoma 0.51, skin cancer 0.52, breast cancer 0.72, biliary tract cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen MAP2K4","url":"https://www.intogen.org/search?gene=MAP2K4","note":"driver in 15 cohorts (Act 4, LoF 11); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MAP2K4: RNA low tissue specificity; high antibody staining in 1 normal tissue. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Colorectal cancer, Pancreatic ductal adenocarcinoma, Gastric & gastro-oesophageal junction cancer, Oesophageal cancer, Hepatocellular carcinoma, Skin cancer (all types) and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (breast adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P45985","url":"https://www.uniprot.org/uniprotkb/P45985/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MAP2K4","url":"https://civicdb.org/features/5200","note":"2 evidence items, 0 assertions, 2 variants; diseases: Cancer, Uterus Leiomyosarcoma (GraphQL API, CC0)"},{"label":"IntOGen MAP2K4","url":"https://www.intogen.org/search?gene=MAP2K4","note":"driver in 15 cohorts (Act 4, LoF 11); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas MAP2K4 tissue","url":"https://www.proteinatlas.org/ENSG00000065559-MAP2K4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000065559 associations","url":"https://platform.opentargets.org/target/ENSG00000065559/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6844","ensembl":"ENSG00000065559","uniprot":"P45985","entrez":"6416","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Derijard et al, Science, 1995, \"Independent human MAP-kinase signal transduction pathways defined by MEK and MKK isoforms\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7839144/","biology":"Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signalling pathway. With MAP2K7/MKK7, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The phosphorylation of the Thr residue by MAP2K7/MKK7 seems to be the prerequisite for JNK activation at least in response to pro-inflammatory cytokines, while other stimuli activate both MAP2K4/MKK4 and MAP2K7/MKK7 which synergistically phosphorylate JNKs. Location: Cytoplasm; Nucleus (UniProt). Locus 17p12 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.72 with breast cancer (MONDO_0007254); IntOGen driver in 6 cohorts (BRCA)","Colorectal cancer: IntOGen driver in 3 cohorts (COADREAD)","Pancreatic ductal adenocarcinoma: IntOGen driver in 2 cohorts (PAAD, PANCREAS)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (EGC)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCC)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)"],"targetClass":"kinase","prevalence":[]},{"id":"map2k7","kind":"target","name":"MAP2K7","aka":["mitogen-activated protein kinase kinase 7","Dual specificity mitogen-activated protein kinase kinase 7","MKK7","Jnkk2","SAPKK4","PRKMK7"],"tldr":"MAP2K7 is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signalling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 3 variants, naming Palbociclib, Tamoxifen and Fulvestrant. IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6847","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6847"},{"label":"UniProt O14733","url":"https://www.uniprot.org/uniprotkb/O14733/entry"},{"label":"NCBI Gene 5609","url":"https://www.ncbi.nlm.nih.gov/gene/5609"},{"label":"Ensembl ENSG00000076984","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000076984"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["lung-cancer","gastric","breast-hr-positive"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAP2K7","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6847","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6847","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14733","url":"https://www.uniprot.org/uniprotkb/O14733/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MAP2K7","url":"https://civicdb.org/features/4546","note":"4 evidence items, 0 assertions, 3 variants; diseases: Oestrogen Receptor-positive Breast Cancer, Lung Cancer (GraphQL API, CC0)"},{"label":"IntOGen MAP2K7","url":"https://www.intogen.org/search?gene=MAP2K7","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MAP2K7: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining ovarian cancer (6 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Gastric & gastro-oesophageal junction cancer, Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O14733","url":"https://www.uniprot.org/uniprotkb/O14733/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MAP2K7","url":"https://civicdb.org/features/4546","note":"4 evidence items, 0 assertions, 3 variants; diseases: Oestrogen Receptor-positive Breast Cancer, Lung Cancer (GraphQL API, CC0)"},{"label":"IntOGen MAP2K7","url":"https://www.intogen.org/search?gene=MAP2K7","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas MAP2K7 tissue","url":"https://www.proteinatlas.org/ENSG00000076984-MAP2K7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000076984 associations","url":"https://platform.opentargets.org/target/ENSG00000076984/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6847","ensembl":"ENSG00000076984","uniprot":"O14733","entrez":"5609","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wu et al, Mol. Cell. Biol, 1997, \"Molecular cloning and characterization of human JNKK2, a novel jun NH2-terminal kinase-specific kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9372971/","biology":"Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Essential component of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signalling pathway. With MAP2K4/MKK4, is the one of the only known kinase to directly activate the stress-activated protein kinase/c-Jun N-terminal kinases MAPK8/JNK1, MAPK9/JNK2 and MAPK10/JNK3. MAP2K4/MKK4 and MAP2K7/MKK7 both activate the JNKs by phosphorylation, but they differ in their preference for the phosphorylation site in the Thr-Pro-Tyr motif. MAP2K4/MKK4 shows preference for phosphorylation of the Tyr residue and MAP2K7/MKK7 for the Thr residue. The monophosphorylation of JNKs on the Thr residue is sufficient to increase JNK activity indicating that MAP2K7/MKK7 is important to trigger JNK activity, while the additional phosphorylation of the Tyr residue by MAP2K4/MKK4 ensures optimal JNK activation. Location: Nucleus; Cytoplasm (UniProt). Locus 19p13.2 (HGNC).","whereFound":["Lung cancer: CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)","HR-positive / HER2-negative breast cancer: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"map3k1","kind":"target","name":"MAP3K1","aka":["mitogen-activated protein kinase kinase kinase 1","Mitogen-activated protein kinase kinase kinase 1","MAPKKK1","MEKK1"],"tldr":"MAP3K1 is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Component of a protein kinase signal transduction cascade. Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4. May phosphorylate the MAPK8/JNK1 kinase.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Selumetinib. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes genetic literature 0.38, clinical 0.06, literature 0.97, genetic association 0.61, somatic mutation 0.96, animal model 0.86). IntOGen calls it a driver in 19 cohorts (3 activating, 16 loss-of-function), covering Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cervical Adenocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Glioblastoma Multiforme and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6848","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6848"},{"label":"UniProt Q13233","url":"https://www.uniprot.org/uniprotkb/Q13233/entry"},{"label":"NCBI Gene 4214","url":"https://www.ncbi.nlm.nih.gov/gene/4214"},{"label":"Ensembl ENSG00000095015","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000095015"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","ovarian","endometrial","rcc","colorectal","skin-cancer","cervical","hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.06; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 16 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAP3K1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6848","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6848","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13233","url":"https://www.uniprot.org/uniprotkb/Q13233/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MAP3K1","url":"https://civicdb.org/features/3480","note":"1 evidence items, 0 assertions, 2 variants; diseases: Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000095015","url":"https://platform.opentargets.org/target/ENSG00000095015/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: prostate cancer 0.55, ovarian cancer 0.64, endometrial cancer 0.56, skin cancer 0.58, breast cancer 0.77 (GraphQL API, CC0)"},{"label":"IntOGen MAP3K1","url":"https://www.intogen.org/search?gene=MAP3K1","note":"driver in 19 cohorts (Act 3, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MAP3K1: RNA low tissue specificity; high antibody staining in 15 normal tissues; highest cancer staining thyroid cancer (3 of 3 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Endometrial cancer, Renal cell carcinoma, Colorectal cancer, Skin cancer (all types), Cervical cancer and more); Open Targets associates it with 3 specific cancer types at or above 0.5 (breast adenocarcinoma, breast carcinoma, ovarian cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q13233","url":"https://www.uniprot.org/uniprotkb/Q13233/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MAP3K1","url":"https://civicdb.org/features/3480","note":"1 evidence items, 0 assertions, 2 variants; diseases: Cancer (GraphQL API, CC0)"},{"label":"IntOGen MAP3K1","url":"https://www.intogen.org/search?gene=MAP3K1","note":"driver in 19 cohorts (Act 3, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas MAP3K1 tissue","url":"https://www.proteinatlas.org/ENSG00000095015-MAP3K1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000095015 associations","url":"https://platform.opentargets.org/target/ENSG00000095015/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6848","ensembl":"ENSG00000095015","uniprot":"Q13233","entrez":"4214","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vinik B.S. et al, Mamm. Genome, 1995, \"Mapping of the MEK kinase gene (Mekk) to mouse chromosome 13 and human chromosome 5\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8597633/","biology":"Component of a protein kinase signal transduction cascade. Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4. May phosphorylate the MAPK8/JNK1 kinase. Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway. Locus 5q11.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.77 with breast cancer (MONDO_0007254); IntOGen driver in 8 cohorts (BRCA)","Ovarian cancer: Open Targets association 0.64 with ovarian cancer (MONDO_0008170)","Endometrial cancer: Open Targets association 0.56 with endometrial cancer (MONDO_0011962); IntOGen driver in 2 cohorts (UCEC)","Renal cell carcinoma: IntOGen driver in 2 cohorts (CCRCC)","Colorectal cancer: IntOGen driver in 2 cohorts (COAD, COADREAD)","Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)"],"targetClass":"kinase","prevalence":[]},{"id":"map3k13","kind":"target","name":"MAP3K13","aka":["mitogen-activated protein kinase kinase kinase 13","Mitogen-activated protein kinase kinase kinase 13","MEKK13"],"tldr":"MAP3K13 (Mitogen-activated protein kinase kinase kinase 13) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Breast cancer, Lung cancer and 1 more.","summary":"Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB-containing complex that phosphorylates inhibitors of NF-kappa-B.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.00, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6852","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6852"},{"label":"UniProt O43283","url":"https://www.uniprot.org/uniprotkb/O43283/entry"},{"label":"NCBI Gene 9175","url":"https://www.ncbi.nlm.nih.gov/gene/9175"},{"label":"Ensembl ENSG00000073803","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000073803"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","breast-cancer","lung-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAP3K13","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6852","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6852","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43283","url":"https://www.uniprot.org/uniprotkb/O43283/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000073803","url":"https://platform.opentargets.org/target/ENSG00000073803/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: melanoma 0.55, skin cancer 0.55, breast cancer 0.53, lung cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6852","ensembl":"ENSG00000073803","uniprot":"O43283","entrez":"9175","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schultz S.J. et al, Cell Growth Differ, 1993, \"Identification of 21 novel human protein kinases, including 3 members of a family related to the cell cycle regulator nimA of Aspergillus nidulans\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8274451/","biology":"Activates the JUN N-terminal pathway through activation of the MAP kinase kinase MAP2K7. Acts synergistically with PRDX3 to regulate the activation of NF-kappa-B in the cytosol. This activation is kinase-dependent and involves activating the IKK complex, the IKBKB-containing complex that phosphorylates inhibitors of NF-kappa-B. Location: Cytoplasm; Membrane (UniProt). Locus 3q27.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"kinase","prevalence":[]},{"id":"mapk1","kind":"target","name":"MAPK1","aka":["mitogen-activated protein kinase 1","Mitogen-activated protein kinase 1","ERK2","p41mapk","MAPK2","PRKM2","PRKM1"],"tldr":"MAPK1 is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signalling cascade initiated by activated KIT and KITLG/SCF.\n\nCIViC holds 5 clinical evidence items and 1 assertion across 3 variants, naming Erlotinib and WZ4002. Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes clinical 0.19, affected pathway 0.86, literature 0.99, genetic association 0.08, somatic mutation 0.95). IntOGen calls it a driver in 5 cohorts (4 activating, 1 loss-of-function), covering Cervical Squamous Cell Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Hepatocellular Carcinoma, Head and Neck Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6871","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6871"},{"label":"UniProt P28482","url":"https://www.uniprot.org/uniprotkb/P28482/entry"},{"label":"NCBI Gene 5594","url":"https://www.ncbi.nlm.nih.gov/gene/5594"},{"label":"Ensembl ENSG00000100030","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100030"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["head-and-neck","cervical","hcc","breast-cancer","skin-cancer","lung-cancer","nsclc","cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.19; IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAPK1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6871","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6871","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P28482","url":"https://www.uniprot.org/uniprotkb/P28482/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MAPK1","url":"https://civicdb.org/features/4532","note":"5 evidence items, 1 assertions, 3 variants; diseases: Head And Neck Squamous Cell Carcinoma, Lung Non-small Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000100030","url":"https://platform.opentargets.org/target/ENSG00000100030/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: cervical cancer 0.52, skin cancer 0.52, breast cancer 0.54, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen MAPK1","url":"https://www.intogen.org/search?gene=MAPK1","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MAPK1: RNA low tissue specificity; high antibody staining in 24 normal tissues; highest cancer staining colorectal cancer (12 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma, Cervical cancer, Hepatocellular carcinoma, Breast cancer (all types), Skin cancer (all types), Lung cancer (all types), Leukaemia); Open Targets associates it with 1 specific cancer type at or above 0.5 (cervical squamous cell carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P28482","url":"https://www.uniprot.org/uniprotkb/P28482/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MAPK1","url":"https://civicdb.org/features/4532","note":"5 evidence items, 1 assertions, 3 variants; diseases: Head And Neck Squamous Cell Carcinoma, Lung Non-small Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"IntOGen MAPK1","url":"https://www.intogen.org/search?gene=MAPK1","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas MAPK1 tissue","url":"https://www.proteinatlas.org/ENSG00000100030-MAPK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100030 associations","url":"https://platform.opentargets.org/target/ENSG00000100030/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6871","ensembl":"ENSG00000100030","uniprot":"P28482","entrez":"5594","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Owaki et al, Biochem. Biophys. Res. Commun, 1992, \"Extracellular signal-regulated kinases in T cells: characterization of human ERK1 and ERK2 cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1540184/","biology":"Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signalling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade also plays a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Location: Cytoplasm, cytoskeleton, spindle; Nucleus; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm (UniProt). Locus 22q11.22 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (HNSC)","Cervical cancer: Open Targets association 0.52 with cervical cancer (MONDO_0002974); IntOGen driver in 2 cohorts (CESC)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)"],"targetClass":"kinase","prevalence":[]},{"id":"mapk11","kind":"target","name":"MAPK11","aka":["mitogen-activated protein kinase 11","Mitogen-activated protein kinase 11","p38-2","p38Beta","SAPK2","PRKM11"],"tldr":"MAPK11 (Mitogen-activated protein kinase 11) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Colorectal cancer.","summary":"Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as pro-inflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.07, clinical 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6873","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6873"},{"label":"UniProt Q15759","url":"https://www.uniprot.org/uniprotkb/Q15759/entry"},{"label":"NCBI Gene 5600","url":"https://www.ncbi.nlm.nih.gov/gene/5600"},{"label":"Ensembl ENSG00000185386","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185386"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.95. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAPK11","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6873","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6873","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15759","url":"https://www.uniprot.org/uniprotkb/Q15759/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000185386","url":"https://platform.opentargets.org/target/ENSG00000185386/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: colorectal cancer 0.58 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MAPK11: RNA tissue enhanced (brain 63 nTPM); high antibody staining in 7 normal tissues; highest cancer staining endometrial cancer (10 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (colorectal cancer). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MAPK11 tissue","url":"https://www.proteinatlas.org/ENSG00000185386-MAPK11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185386 associations","url":"https://platform.opentargets.org/target/ENSG00000185386/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6873","ensembl":"ENSG00000185386","uniprot":"Q15759","entrez":"5600","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jiang et al, J. Biol. Chem, 1996, \"Characterization of the structure and function of a new mitogen-activated protein kinase (p38beta)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8663524/","biology":"Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK11 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as pro-inflammatory cytokines or physical stress leading to direct activation of transcription factors. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK11 functions are mostly redundant with those of MAPK14. Some of the targets are downstream kinases which are activated through phosphorylation and further phosphorylate additional targets. RPS6KA5/MSK1 and RPS6KA4/MSK2 can directly phosphorylate and activate transcription factors such as CREB1, ATF1, the NF-kappa-B isoform RELA/NFKB3, STAT1 and STAT3, but can also phosphorylate histone H3 and the nucleosomal protein HMGN1. Location: Cytoplasm; Nucleus (UniProt). Locus 22q13.33 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.58 with colorectal cancer (MONDO_0005575)"],"targetClass":"kinase","prevalence":[]},{"id":"mapk3","kind":"target","name":"MAPK3","aka":["mitogen-activated protein kinase 3","Mitogen-activated protein kinase 3","ERK1","p44mapk","p44erk1","ERK-1","PRKM3"],"tldr":"MAPK3 (Mitogen-activated protein kinase 3) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signalling cascade initiated by activated KIT and KITLG/SCF.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.97, genetic association 0.00, clinical 0.19).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6877","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6877"},{"label":"UniProt P27361","url":"https://www.uniprot.org/uniprotkb/P27361/entry"},{"label":"NCBI Gene 5595","url":"https://www.ncbi.nlm.nih.gov/gene/5595"},{"label":"Ensembl ENSG00000102882","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102882"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ras-mapk"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.19. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAPK3","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6877","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6877","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P27361","url":"https://www.uniprot.org/uniprotkb/P27361/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000102882","url":"https://platform.opentargets.org/target/ENSG00000102882/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MAPK3: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 49 nTPM); high antibody staining in 12 normal tissues; highest cancer staining colorectal cancer (12 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MAPK3 tissue","url":"https://www.proteinatlas.org/ENSG00000102882-MAPK3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000102882 associations","url":"https://platform.opentargets.org/target/ENSG00000102882/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6877","ensembl":"ENSG00000102882","uniprot":"P27361","entrez":"5595","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Owaki et al, Biochem. Biophys. Res. Commun, 1992, \"Extracellular signal-regulated kinases in T cells: characterization of human ERK1 and ERK2 cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1540184/","biology":"Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signalling cascade initiated by activated KIT and KITLG/SCF. Depending on the cellular context, the MAPK/ERK cascade mediates diverse biological functions such as cell growth, adhesion, survival and differentiation through the regulation of transcription, translation, cytoskeletal rearrangements. The MAPK/ERK cascade also plays a role in initiation and regulation of meiosis, mitosis, and postmitotic functions in differentiated cells by phosphorylating a number of transcription factors. About 160 substrates have already been discovered for ERKs. Location: Cytoplasm; Nucleus; Membrane, caveola; Cell junction, focal adhesion (UniProt). Locus 16p11.2 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"mapk8","kind":"target","name":"MAPK8","aka":["mitogen-activated protein kinase 8","Mitogen-activated protein kinase 8","JNK1","SAPK1","PRKM8"],"tldr":"MAPK8 (Mitogen-activated protein kinase 8) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as pro-inflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signalling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK8/JNK1.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes clinical 0.06, affected pathway 0.89, literature 0.99, genetic association 0.00, animal model 0.51).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6881","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6881"},{"label":"UniProt P45983","url":"https://www.uniprot.org/uniprotkb/P45983/entry"},{"label":"NCBI Gene 5599","url":"https://www.ncbi.nlm.nih.gov/gene/5599"},{"label":"Ensembl ENSG00000107643","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107643"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.06. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAPK8","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6881","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6881","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P45983","url":"https://www.uniprot.org/uniprotkb/P45983/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107643","url":"https://platform.opentargets.org/target/ENSG00000107643/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MAPK8: RNA low tissue specificity; high antibody staining in 5 normal tissues; highest cancer staining cervical cancer (1 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MAPK8 tissue","url":"https://www.proteinatlas.org/ENSG00000107643-MAPK8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000107643 associations","url":"https://platform.opentargets.org/target/ENSG00000107643/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6881","ensembl":"ENSG00000107643","uniprot":"P45983","entrez":"5599","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Derijard et al, Cell, 1994, \"JNK1: a protein kinase stimulated by UV light and Ha-Ras that binds and phosphorylates the c-Jun activation domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8137421/","biology":"Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as pro-inflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signalling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK8/JNK1. In turn, MAPK8/JNK1 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN, JDP2 and ATF2 and thus regulates AP-1 transcriptional activity. Phosphorylates the replication licensing factor CDT1, inhibiting the interaction between CDT1 and the histone H4 acetylase HBO1 to replication origins. Loss of this interaction abrogates the acetylation required for replication initiation. Location: Cytoplasm; Nucleus; Synapse (UniProt). Locus 10q11.22 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"mapk9","kind":"target","name":"MAPK9","aka":["mitogen-activated protein kinase 9","Mitogen-activated protein kinase 9","JNK2","p54a","PRKM9"],"tldr":"MAPK9 (Mitogen-activated protein kinase 9) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as pro-inflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signalling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK9/JNK2.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes clinical 0.06, affected pathway 0.89, literature 0.89, genetic association 0.00, animal model 0.34).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6886","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6886"},{"label":"UniProt P45984","url":"https://www.uniprot.org/uniprotkb/P45984/entry"},{"label":"NCBI Gene 5601","url":"https://www.ncbi.nlm.nih.gov/gene/5601"},{"label":"Ensembl ENSG00000050748","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000050748"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.06. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAPK9","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6886","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6886","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P45984","url":"https://www.uniprot.org/uniprotkb/P45984/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000050748","url":"https://platform.opentargets.org/target/ENSG00000050748/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MAPK9: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 16 nTPM); high antibody staining in 23 normal tissues; highest cancer staining liver cancer (3 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MAPK9 tissue","url":"https://www.proteinatlas.org/ENSG00000050748-MAPK9/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000050748 associations","url":"https://platform.opentargets.org/target/ENSG00000050748/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6886","ensembl":"ENSG00000050748","uniprot":"P45984","entrez":"5601","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sluss H.K. et al, Mol. Cell. Biol, 1994, \"Signal transduction by tumor necrosis factor mediated by JNK protein kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7969172/","biology":"Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as pro-inflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signalling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK9/JNK2. In turn, MAPK9/JNK2 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and ATF2 and thus regulates AP-1 transcriptional activity. In response to oxidative or ribotoxic stresses, inhibits rRNA synthesis by phosphorylating and inactivating the RNA polymerase 1-specific transcription initiation factor RRN3. Promotes stressed cell apoptosis by phosphorylating key regulatory factors including TP53 and YAP1. Location: Cytoplasm; Nucleus (UniProt). Locus 5q35.3 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"mark2","kind":"target","name":"MARK2","aka":["microtubule affinity regulating kinase 2","Serine/threonine-protein kinase MARK2","PAR-1","Par1b","PAR-1B","EMK1"],"tldr":"MARK2 (Serine/threonine-protein kinase MARK2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma.","summary":"Serine/threonine-protein kinase. Involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4 and RAB11FIP2.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3332","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3332"},{"label":"UniProt Q7KZI7","url":"https://www.uniprot.org/uniprotkb/Q7KZI7/entry"},{"label":"NCBI Gene 2011","url":"https://www.ncbi.nlm.nih.gov/gene/2011"},{"label":"Ensembl ENSG00000072518","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072518"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MARK2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:3332","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3332","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7KZI7","url":"https://www.uniprot.org/uniprotkb/Q7KZI7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MARK2","url":"https://www.intogen.org/search?gene=MARK2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:3332","ensembl":"ENSG00000072518","uniprot":"Q7KZI7","entrez":"2011","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schultz S.J. et al, Cell Growth Differ, 1993, \"Identification of 21 novel human protein kinases, including 3 members of a family related to the cell cycle regulator nimA of Aspergillus nidulans\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8274451/","biology":"Serine/threonine-protein kinase. Involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4 and RAB11FIP2. Phosphorylates the microtubule-associated protein MAPT/TAU. Plays a key role in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Regulates epithelial cell polarity by phosphorylating RAB11FIP2. Location: Cell membrane; Cytoplasm; Lateral cell membrane; Cytoplasm, cytoskeleton (UniProt). Locus 11q13.1 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"kinase","prevalence":[]},{"id":"mark3","kind":"target","name":"MARK3","aka":["microtubule affinity regulating kinase 3","MAP/microtubule affinity-regulating kinase 3","CTAK1","KP78","PAR-1A"],"tldr":"MARK3 (MAP/microtubule affinity-regulating kinase 3) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Serine/threonine-protein kinase. Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.80, affected pathway 0.97, genetic association 0.22).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6897","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6897"},{"label":"UniProt P27448","url":"https://www.uniprot.org/uniprotkb/P27448/entry"},{"label":"NCBI Gene 4140","url":"https://www.ncbi.nlm.nih.gov/gene/4140"},{"label":"Ensembl ENSG00000075413","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000075413"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MARK3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6897","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6897","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P27448","url":"https://www.uniprot.org/uniprotkb/P27448/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000075413","url":"https://platform.opentargets.org/target/ENSG00000075413/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6897","ensembl":"ENSG00000075413","uniprot":"P27448","entrez":"4140","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Maheshwari K.K. et al, 1992.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P27448/entry","biology":"Serine/threonine-protein kinase. Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU. Phosphorylates CDC25C on 'Ser-216'. Regulates localisation and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. Regulates localisation and activity of MITF by mediating its phosphorylation, promoting subsequent interaction between MITF and 14-3-3 and retention in the cytosol. Location: Cell membrane; Cell projection, dendrite; Cytoplasm (UniProt). Locus 14q32.32-q32.33 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"max","kind":"target","name":"MAX","aka":["MYC associated transcriptional regulator X","bHLHd4","bHLHd5","bHLHd6","bHLHd7","bHLHd8"],"tldr":"MAX (MYC associated transcriptional regulator X) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Neuroendocrine tumours, Multiple myeloma, Endometrial cancer and 5 more.","summary":"Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MYC or MAD which recognises the core sequence 5'-CAC[GA]TG-3'. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.89, genetic association 0.17, somatic mutation 0.95). IntOGen calls it a driver in 10 cohorts (7 activating, 3 loss-of-function), covering Invasive Breast Carcinoma, Gastrointestinal Stromal Tumour, Low-Grade Glioma, NOS, Medulloblastoma, Pilocytic Astrocytoma, Plasma Cell Myeloma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6913","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6913"},{"label":"UniProt P61244","url":"https://www.uniprot.org/uniprotkb/P61244/entry"},{"label":"NCBI Gene 4149","url":"https://www.ncbi.nlm.nih.gov/gene/4149"},{"label":"Ensembl ENSG00000125952","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125952"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["neuroendocrine","multiple-myeloma","endometrial","breast-cancer","small-bowel","colorectal","skin-cancer","gist"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["myc"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 7 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MAX","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6913","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6913","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P61244","url":"https://www.uniprot.org/uniprotkb/P61244/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000125952","url":"https://platform.opentargets.org/target/ENSG00000125952/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.53, melanoma 0.52, neuroendocrine neoplasm 0.76, plasma cell myeloma 0.51, skin cancer 0.53, breast cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen MAX","url":"https://www.intogen.org/search?gene=MAX","note":"driver in 10 cohorts (Act 7, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6913","ensembl":"ENSG00000125952","uniprot":"P61244","entrez":"4149","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Blackwood E.M. et al, Science, 1991, \"Max: a helix-loop-helix zipper protein that forms a sequence-specific DNA-binding complex with Myc\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2006410/","biology":"Transcription regulator. Forms a sequence-specific DNA-binding protein complex with MYC or MAD which recognises the core sequence 5'-CAC[GA]TG-3'. The MYC:MAX complex is a transcriptional activator, whereas the MAD:MAX complex is a repressor. May repress transcription via the recruitment of a chromatin remodeling complex containing H3 'Lys-9' histone methyltransferase activity. Represses MYC transcriptional activity from E-box elements. Location: Nucleus; Cell projection, dendrite (UniProt). Locus 14q23.3 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.76 with neuroendocrine neoplasm (MONDO_0019496)","Multiple myeloma: Open Targets association 0.51 with plasma cell myeloma (MONDO_0009693); IntOGen driver in 2 cohorts (PCM)","Endometrial cancer: IntOGen driver in 2 cohorts (UCEC)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Small intestine cancer: IntOGen driver in 1 cohort (SIC)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"mb21d2","kind":"target","name":"MB21D2","aka":["Mab-21 domain containing 2","Nucleotidyltransferase MB21D2","D2A","C3orf59"],"tldr":"MB21D2 (Nucleotidyltransferase MB21D2) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Head and neck squamous cell carcinoma, Sarcomas, Bladder & urothelial cancer and 2 more.","summary":"Probable nucleotidyltransferase that catalyses the formation of cyclic dinucleotide second messenger in response to some unknown stimulus.\n\nIntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Head and Neck Squamous Cell Carcinoma, Liposarcoma, Lung Squamous Cell Carcinoma, Upper Tract Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30438","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30438"},{"label":"UniProt Q8IYB1","url":"https://www.uniprot.org/uniprotkb/Q8IYB1/entry"},{"label":"NCBI Gene 151963","url":"https://www.ncbi.nlm.nih.gov/gene/151963"},{"label":"Ensembl ENSG00000180611","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000180611"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["head-and-neck","sarcoma","urothelial","liposarcoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MB21D2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30438","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30438","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IYB1","url":"https://www.uniprot.org/uniprotkb/Q8IYB1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MB21D2","url":"https://www.intogen.org/search?gene=MB21D2","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30438","ensembl":"ENSG00000180611","uniprot":"Q8IYB1","entrez":"151963","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Probable nucleotidyltransferase that catalyses the formation of cyclic dinucleotide second messenger in response to some unknown stimulus. Locus 3q29 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Sarcomas: IntOGen driver in 1 cohort (LIPO)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)","Liposarcoma: IntOGen driver in 1 cohort (LIPO)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"enzyme","prevalence":[]},{"id":"mbd4","kind":"target","name":"MBD4","aka":["methyl-CpG binding domain 4, DNA glycosylase","Methyl-CpG-binding domain protein 4","MED1"],"tldr":"MBD4 (Methyl-CpG-binding domain protein 4) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Leukaemia, Myeloproliferative neoplasms and 3 more.","summary":"Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming PD1 Inhibitor. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.66, genetic literature 0.84).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6919"},{"label":"UniProt O95243","url":"https://www.uniprot.org/uniprotkb/O95243/entry"},{"label":"NCBI Gene 8930","url":"https://www.ncbi.nlm.nih.gov/gene/8930"},{"label":"Ensembl ENSG00000129071","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129071"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","leukaemia","myeloproliferative-neoplasms","melanoma","uveal-melanoma","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MBD4","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6919","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95243","url":"https://www.uniprot.org/uniprotkb/O95243/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MBD4","url":"https://civicdb.org/features/7084","note":"1 evidence items, 0 assertions, 1 variants; diseases: Uveal Melanoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000129071","url":"https://platform.opentargets.org/target/ENSG00000129071/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.55, melanoma 0.71, acute myeloid leukaemia 0.53, myeloproliferative neoplasm 0.53, ocular melanoma 0.71, leukaemia 0.53 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"few-types","specificityNote":"Germline variant: UniProt lists Tumor predisposition syndrome 2 (TPDS2) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA MBD4: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Leukaemia, Myeloid neoplasms, Skin cancer (all types)); Open Targets associates it with 5 specific cancer types at or above 0.5 (tumor predisposition syndrome 2, uveal melanoma, colorectal cancer, acute myeloid leukemia, classic familial adenomatous polyposis). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O95243","url":"https://www.uniprot.org/uniprotkb/O95243/entry","note":"involvement in disease"},{"label":"Human Protein Atlas MBD4 tissue","url":"https://www.proteinatlas.org/ENSG00000129071-MBD4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000129071 associations","url":"https://platform.opentargets.org/target/ENSG00000129071/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6919","ensembl":"ENSG00000129071","uniprot":"O95243","entrez":"8930","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hendrich et al, Mol. Cell. Biol, 1998, \"Identification and characterization of a family of mammalian methyl-CpG binding proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9774669/","biology":"Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein. Location: Nucleus (UniProt). Locus 3q21.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Leukaemia: Open Targets association 0.53 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.53 with myeloproliferative neoplasm (MONDO_0020076)","Melanoma: Open Targets association 0.71 with melanoma (MONDO_0005105)","Uveal melanoma: Open Targets association 0.71 with ocular melanoma (MONDO_0006325); CIViC evidence names this disease","Acute myeloid leukaemia: Open Targets association 0.53 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"enzyme","prevalence":[]},{"id":"mc1r","kind":"target","name":"MC1R","aka":["melanocortin 1 receptor","Melanocyte-stimulating hormone receptor","MSH-R"],"tldr":"MC1R (Melanocyte-stimulating hormone receptor) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Melanoma and Basal cell carcinoma.","summary":"G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and adrenocorticotropic hormone/ACTH, which are peptide products of the POMC precursor protein. Upon activation, MC1R couples with the G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signalling pathway. This activation promotes melanogenesis, resulting in the production of eumelanin (black/brown) and pheomelanin (red/yellow) in melanocytes.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.95, animal model 0.48, genetic association 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6929","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6929"},{"label":"UniProt Q01726","url":"https://www.uniprot.org/uniprotkb/Q01726/entry"},{"label":"NCBI Gene 4157","url":"https://www.ncbi.nlm.nih.gov/gene/4157"},{"label":"Ensembl ENSG00000258839","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000258839"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","melanoma","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct05655312"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MC1R","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6929","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6929","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01726","url":"https://www.uniprot.org/uniprotkb/Q01726/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000258839","url":"https://platform.opentargets.org/target/ENSG00000258839/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: melanoma 0.62, skin cancer 0.58, basal cell carcinoma 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6929","ensembl":"ENSG00000258839","uniprot":"Q01726","entrez":"4157","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mountjoy K.G. et al, Science, 1992, \"The cloning of a family of genes that encode the melanocortin receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1325670/","biology":"G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and adrenocorticotropic hormone/ACTH, which are peptide products of the POMC precursor protein. Upon activation, MC1R couples with the G(s) protein, stimulating adenylate cyclase and activating the cAMP-dependent signalling pathway. This activation promotes melanogenesis, resulting in the production of eumelanin (black/brown) and pheomelanin (red/yellow) in melanocytes. MC1R interacts with G protein-coupled receptor opsin 3/OPN3, which couples to G(i) proteins and inhibits the alpha-MSH-induced cAMP response, thereby reducing melanin synthesis. Binding to Agouti/ASP precludes alpha-MSH-induced signalling, thereby down-regulating melanogenesis. Additionally, interaction with MGRN1 displaces the G(s) protein, further suppressing MC1R signalling. Location: Cell membrane (UniProt). Locus 16q24.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.62 with melanoma (MONDO_0005105)","Basal cell carcinoma: Open Targets association 0.53 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"other","prevalence":[]},{"id":"mcl1","kind":"target","name":"MCL1","aka":["MCL1 apoptosis regulator, BCL2 family member","Induced myeloid leukemia cell differentiation protein Mcl-1","BCL2L3","Mcl-1"],"tldr":"MCL1 (Induced myeloid leukaemia cell differentiation protein Mcl-1) is a gene. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma.","summary":"Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Mcl-1 Inhibitor MIK665. In OnCo, 1 product record names it (Omacetaxine mepesuccinate).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6943","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6943"},{"label":"UniProt Q07820","url":"https://www.uniprot.org/uniprotkb/Q07820/entry"},{"label":"NCBI Gene 4170","url":"https://www.ncbi.nlm.nih.gov/gene/4170"},{"label":"Ensembl ENSG00000143384","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143384"},{"label":"Tsujimoto et al., Science 1985: the t(14;18) translocation results from a mistake in VDJ joining","url":"https://doi.org/10.1126/science.3929382"},{"label":"Horn et al., Blood 2013: MYC, BCL2 and BCL6 rearrangement and expression in 442 RICOVER patients","url":"https://doi.org/10.1182/blood-2012-06-435842"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["omacetaxine"],"companies":[],"institutions":[],"pathways":["apoptosis-bcl2","mrna-translation-eif4f","transcription-addiction"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, BCL2 and t(14;18): The t(14;18) translocation puts BCL2 under the control of the immunoglobulin heavy-chain enhancer, so the cell makes an anti-apoptotic protein at a level a germinal-centre B cell is never meant to have. The sequencing of the breakpoints showed that the translocation is a mistake made by the VDJ recombinase at the pre-B-cell stage: the chromosome 18 segment recombines with the JH segment on chromosome 14, with extraneous N-region nucleotides at the junction and signal-like sequences near the chromosome 18 breakpoint (Tsujimoto 1985). The lesion is therefore not a late event in a lymphoma but the first event, made in the bone marrow years before. Frequency: BCL2 rearrangement in 13.5% of 442 unselected diffuse large B-cell lymphomas in the RICOVER trial (Horn 2013), and in the large majority of follicular lymphomas. A t(14;18)-bearing B cell can be found in the blood of healthy people, so the translocation alone is not a disease. What it changes about treatment: Less than it should. Venetoclax, which displaces the pro-apoptotic partners from BCL-2 directly, transformed chronic lymphocytic leukaemia and has not transformed follicular or diffuse large B-cell lymphoma, where the cells also depend on MCL1 and BCL-xL. A BCL2 rearrangement is used for diagnosis and, in combination with MYC, for risk, not for drug choice."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MCL1","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6943","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6943","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q07820","url":"https://www.uniprot.org/uniprotkb/Q07820/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MCL1","url":"https://civicdb.org/features/3448","note":"1 evidence items, 0 assertions, 1 variants; diseases: Multiple Myeloma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists MCL1 among essential proteins; the 1 medicine aimed at it (Omacetaxine mepesuccinate) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA MCL1: RNA tissue enhanced (bone marrow 647 nTPM); high antibody staining in 14 normal tissues; highest cancer staining thyroid cancer (4 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Multiple myeloma); approvals of single-target medicines aimed at it also list Leukaemia, not counted; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MCL1 tissue","url":"https://www.proteinatlas.org/ENSG00000143384-MCL1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143384 associations","url":"https://platform.opentargets.org/target/ENSG00000143384/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6943","ensembl":"ENSG00000143384","uniprot":"Q07820","entrez":"4170","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kozopas K.M. et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"MCL1, a gene expressed in programmed myeloid cell differentiation, has sequence similarity to BCL2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7682708/","biology":"Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isoform 2 promotes apoptosis. Location: Membrane; Cytoplasm; Mitochondrion; Nucleus, nucleoplasm (UniProt). Locus 1q21.2 (HGNC).","whereFound":["Multiple myeloma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"mcm7","kind":"target","name":"MCM7","aka":["minichromosome maintenance complex component 7","DNA replication licensing factor MCM7","CDC47","PPP1R104","MCM2"],"tldr":"MCM7 (DNA replication licensing factor MCM7) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Cervical cancer.","summary":"Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Cervical Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6950"},{"label":"UniProt P33993","url":"https://www.uniprot.org/uniprotkb/P33993/entry"},{"label":"NCBI Gene 4176","url":"https://www.ncbi.nlm.nih.gov/gene/4176"},{"label":"Ensembl ENSG00000166508","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166508"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["cervical"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MCM7","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:6950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6950","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P33993","url":"https://www.uniprot.org/uniprotkb/P33993/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MCM7","url":"https://www.intogen.org/search?gene=MCM7","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:6950","ensembl":"ENSG00000166508","uniprot":"P33993","entrez":"4176","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hu et al, Nucleic Acids Res, 1993, \"The P1 family: a new class of nuclear mammalian proteins related to the yeast Mcm replication proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8265339/","biology":"Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for S-phase checkpoint activation upon UV-induced damage. Location: Nucleus; Chromosome (UniProt). Locus 7q22.1 (HGNC).","whereFound":["Cervical cancer: IntOGen driver in 1 cohort (CESC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"mcm8","kind":"target","name":"MCM8","aka":["minichromosome maintenance 8 homologous recombination repair factor","DNA helicase MCM8","MGC4816","MGC12866","MGC119522","MGC119523","dJ967N21.5","C20orf154"],"tldr":"MCM8 (DNA helicase MCM8) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"Component of the MCM8-MCM9 complex, which is involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR). The MCM8-MCM9 complex is a 3'-5' DNA helicase and single-stranded (ss)DNA-stimulated ATPase which binds ssDNA in the presence of nucleoside triphosphates. Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.97, animal model 0.34, genetic association 0.62).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16147","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16147"},{"label":"UniProt Q9UJA3","url":"https://www.uniprot.org/uniprotkb/Q9UJA3/entry"},{"label":"NCBI Gene 84515","url":"https://www.ncbi.nlm.nih.gov/gene/84515"},{"label":"Ensembl ENSG00000125885","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125885"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MCM8","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16147","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16147","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UJA3","url":"https://www.uniprot.org/uniprotkb/Q9UJA3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000125885","url":"https://platform.opentargets.org/target/ENSG00000125885/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16147","ensembl":"ENSG00000125885","uniprot":"Q9UJA3","entrez":"84515","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deloukas et al, Nature, 2001, \"The DNA sequence and comparative analysis of human chromosome 20\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11780052/","biology":"Component of the MCM8-MCM9 complex, which is involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR). The MCM8-MCM9 complex is a 3'-5' DNA helicase and single-stranded (ss)DNA-stimulated ATPase which binds ssDNA in the presence of nucleoside triphosphates. Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity. Indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs, probably by regulating the localisation of the MNR complex. The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression. May play a non-essential for DNA replication: may be involved in the activation of the prereplicative complex (pre-RC) during G(1) phase by recruiting CDC6 to the origin recognition complex (ORC). Location: Nucleus; Chromosome; Cytoplasm; Mitochondrion matrix (UniProt). Locus 20p12.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"mdga2","kind":"target","name":"MDGA2","aka":["MAM domain containing glycosylphosphatidylinositol anchor 2","MAM domain-containing glycosylphosphatidylinositol anchor protein 2","MAMDC1"],"tldr":"MDGA2 (MAM domain-containing glycosylphosphatidylinositol anchor protein 2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Melanoma.","summary":"May be involved in cell-cell interactions.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19835","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19835"},{"label":"UniProt Q7Z553","url":"https://www.uniprot.org/uniprotkb/Q7Z553/entry"},{"label":"NCBI Gene 161357","url":"https://www.ncbi.nlm.nih.gov/gene/161357"},{"label":"Ensembl ENSG00000139915","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139915"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MDGA2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:19835","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19835","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z553","url":"https://www.uniprot.org/uniprotkb/Q7Z553/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MDGA2","url":"https://www.intogen.org/search?gene=MDGA2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:19835","ensembl":"ENSG00000139915","uniprot":"Q7Z553","entrez":"161357","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Huang C.Q. et al, 2003.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q7Z553/entry","biology":"May be involved in cell-cell interactions. Location: Cell membrane (UniProt). Locus 14q21.3 (HGNC).","whereFound":["Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"oncogene","prevalence":[]},{"id":"mdm2","kind":"target","name":"MDM2","aka":[],"tldr":"MDM2 is the protein that degrades p53; blocking it reactivates p53 in tumours where the gene is intact, especially the liposarcomas that carry extra copies of MDM2.","summary":"MDM2 is an E3 ubiquitin ligase and p53's principal negative regulator; MDM2 amplification defines well-differentiated/dedifferentiated liposarcoma (>90%), intimal sarcoma and low-grade osteosarcoma, and occurs in ~5% of glioblastoma and some breast and lung cancers. MDM2-p53 inhibitors (nutlins: idasanutlin, milademetan, brigimadlin, navtemadlin, siremadlin, alrizomadlin) reactivate wild-type p53 but cause on-target thrombocytopenia and GI toxicity and select for TP53 mutations. Brigimadlin (Brightline-1, dedifferentiated liposarcoma vs doxorubicin) is the lead phase 3; navtemadlin is in phase 3 in myelofibrosis after ruxolitinib (BOREAS). Idasanutlin failed in AML (MIRROS). MDM2 amplification also predicts hyperprogression on checkpoint inhibitors.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/Mdm2","links":[{"label":"Liposarcoma genomics (Nat Genet 2010)","url":"https://doi.org/10.1038/ng.619"}],"tags":["gap-fill"],"related":["tp53"],"cancers":["sarcoma","glioblastoma","aml","myeloproliferative-neoplasms","gallbladder"],"sections":[],"technologies":["protac-degrader","kinase-inhibitors"],"targets":[],"drugs":["krt-232"],"companies":["boehringer-ingelheim"],"institutions":[],"pathways":["p53-cell-cycle","bladder-cancer-signalling","glioma-signalling","melanoma-signalling","prostate-cancer-signalling"],"terms":[],"trials":["nct06578624"],"people":[],"bottlenecks":[],"keyPapers":["paper-cowzer-biliary-targeted-therapy-determinants-ccr-2026","paper-barretina-nat-genet"],"journals":[],"dependsOn":[],"notes":["Gallbladder cancer: MDM2 amplification in about 12% of MSK samples (cBioPortal gbc_mskcc_2022 and gbc_msk_2018) and 6.5% of biliary tract cancers overall (Cowzer 2026), an emerging target in TP53 wild-type tumours."],"symbol":"MDM2","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists MDM2 among essential proteins and finds the RNA at low tissue specificity; the 2 medicines aimed at it (KRT-232, Brigimadlin) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA MDM2: RNA low tissue specificity; high antibody staining in 45 normal tissues; highest cancer staining breast cancer (12 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Biliary tract cancer (all types), Brain and spinal cord tumours (all types), Leukaemia, Myeloid neoplasms); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MDM2 tissue","url":"https://www.proteinatlas.org/ENSG00000135679-MDM2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000135679 associations","url":"https://platform.opentargets.org/target/ENSG00000135679/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6973","ensembl":"ENSG00000135679","uniprot":"Q00987","entrez":"4193","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Oliner J.D. et al, Nature, 1992, \"Amplification of a gene encoding a p53-associated protein in human sarcomas\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1614537/","biology":"RING-domain E3 ligase that binds the p53 transactivation domain, ubiquitinates it for proteasomal degradation and exports it from the nucleus; p53 in turn transcribes MDM2 (negative feedback); MDMX (MDM4) is a heterodimer partner.","whereFound":["Well-differentiated / dedifferentiated liposarcoma (>90% amplification)","Intimal sarcoma, low-grade central osteosarcoma","Glioblastoma (~5-10%)","Breast, lung, bladder cancer (subsets); TP53-wild-type AML and myelofibrosis (pharmacologic target)","Gallbladder cancer: amplification about 12%"],"targetClass":"other","prevalence":[{"cancerId":"sarcoma","pct":"90","measure":"MDM2 amplification in well/dedifferentiated liposarcoma","source":"https://doi.org/10.1038/ng.619"},{"cancerId":"gallbladder","pct":12,"measure":"Amplification","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Amplification in 29 of 244 samples, 11.9%, in cBioPortal gbc_mskcc_2022 and 12 of 103, 11.7%, in gbc_msk_2018; 6.5% across 1,254 biliary tract cancers of all sites (Cowzer 2026)."}]},{"id":"mdm4","kind":"target","name":"MDM4","aka":["MDM4 regulator of p53"],"tldr":"MDM4 (MDM4 regulator of p53) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer, Prostate cancer and 1 more.","summary":"Contributes to p53/TP53 regulation. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding their transcriptional activation domains. Inhibits degradation of MDM2.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Nivolumab, Pembrolizumab and Atezolizumab. Open Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes affected pathway 0.57, literature 0.99, genetic association 0.60, somatic mutation 0.97, animal model 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6974","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6974"},{"label":"UniProt O15151","url":"https://www.uniprot.org/uniprotkb/O15151/entry"},{"label":"NCBI Gene 4194","url":"https://www.ncbi.nlm.nih.gov/gene/4194"},{"label":"Ensembl ENSG00000198625","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198625"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["skin-cancer","breast-cancer","prostate","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["p53-mdm2-axis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MDM4","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6974","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6974","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15151","url":"https://www.uniprot.org/uniprotkb/O15151/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MDM4","url":"https://civicdb.org/features/3466","note":"2 evidence items, 0 assertions, 2 variants; diseases: Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000198625","url":"https://platform.opentargets.org/target/ENSG00000198625/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: prostate cancer 0.55, melanoma 0.59, skin cancer 0.56, breast cancer 0.55 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MDM4: RNA low tissue specificity; high antibody staining in 23 normal tissues; highest cancer staining ovarian cancer (10 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Breast cancer (all types), Prostate cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (prostate carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MDM4 tissue","url":"https://www.proteinatlas.org/ENSG00000198625-MDM4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198625 associations","url":"https://platform.opentargets.org/target/ENSG00000198625/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6974","ensembl":"ENSG00000198625","uniprot":"O15151","entrez":"4194","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shvarts et al, Genomics, 1997, \"Isolation and identification of the human homolog of a new p53-binding protein, Mdmx\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9226370/","biology":"Contributes to p53/TP53 regulation. Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apoptosis by binding their transcriptional activation domains. Inhibits degradation of MDM2. Can reverse MDM2-targeted degradation of TP53 while maintaining suppression of TP53 transactivation and apoptotic functions. Location: Nucleus; Cytoplasm (UniProt). Locus 1q32.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Prostate cancer: Open Targets association 0.55 with prostate cancer (MONDO_0008315)","Melanoma: Open Targets association 0.59 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},{"id":"mecom","kind":"target","name":"MECOM","aka":["MDS1 and EVI1 complex locus","Histone-lysine N-methyltransferase MECOM","MDS1-EVI1","PRDM3","KMT8E","MDS1","EVI1"],"tldr":"MECOM (Histone-lysine N-methyltransferase MECOM) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Prostate cancer, Endometrial cancer and 5 more.","summary":"Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signalling.\n\nCIViC holds 5 clinical evidence items and 1 assertion across 3 variants. Open Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes affected pathway 0.26, literature 0.99, genetic association 0.63, somatic mutation 0.80, animal model 0.50). IntOGen calls it a driver in 6 cohorts (3 activating, 3 loss-of-function), covering Invasive Breast Carcinoma, Melanoma, Prostate Adenocarcinoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3498","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498"},{"label":"UniProt Q03112","url":"https://www.uniprot.org/uniprotkb/Q03112/entry"},{"label":"NCBI Gene 2122","url":"https://www.ncbi.nlm.nih.gov/gene/2122"},{"label":"Ensembl ENSG00000085276","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085276"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","prostate","endometrial","skin-cancer","lung-cancer","ovarian","melanoma","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 5 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Acute Myeloid Leukaemia With MECOM Rearrangement."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MECOM","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3498","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3498","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q03112","url":"https://www.uniprot.org/uniprotkb/Q03112/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MECOM","url":"https://civicdb.org/features/1771","note":"5 evidence items, 1 assertions, 3 variants; diseases: Acute Myeloid Leukaemia With MECOM Rearrangement, Acute Myeloid Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000085276","url":"https://platform.opentargets.org/target/ENSG00000085276/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: prostate cancer 0.54, ovarian cancer 0.51, melanoma 0.61, skin cancer 0.57, breast cancer 0.59, lung cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen MECOM","url":"https://www.intogen.org/search?gene=MECOM","note":"driver in 6 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MECOM: RNA tissue enhanced (stomach 1 69 nTPM); high antibody staining in 42 normal tissues; highest cancer staining ovarian cancer (10 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Prostate cancer, Endometrial cancer, Skin cancer (all types), Lung cancer (all types), Ovarian cancer, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q03112","url":"https://www.uniprot.org/uniprotkb/Q03112/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MECOM","url":"https://civicdb.org/features/1771","note":"5 evidence items, 1 assertions, 3 variants; diseases: Acute Myeloid Leukaemia With MECOM Rearrangement, Acute Myeloid Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen MECOM","url":"https://www.intogen.org/search?gene=MECOM","note":"driver in 6 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas MECOM tissue","url":"https://www.proteinatlas.org/ENSG00000085276-MECOM/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000085276 associations","url":"https://platform.opentargets.org/target/ENSG00000085276/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3498","ensembl":"ENSG00000085276","uniprot":"Q03112","entrez":"2122","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Morishita et al, Oncogene, 1990, \"Unique expression of the human Evi-1 gene in an endometrial carcinoma cell line: sequence of cDNAs and structure of alternatively spliced transcripts\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2115646/","biology":"Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signalling. Involved in haematopoiesis. Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1). Probably catalyses the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyse histone H3 'Lys-9' trimethylation. Location: Nucleus; Nucleus speckle; Cytoplasm (UniProt). Locus 3q26.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Prostate cancer: Open Targets association 0.54 with prostate cancer (MONDO_0008315); IntOGen driver in 1 cohort (PRAD)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)"],"targetClass":"transcription","prevalence":[]},{"id":"med12","kind":"target","name":"MED12","aka":["mediator complex subunit 12","Mediator of RNA polymerase II transcription subunit 12","CAGH45","OPA1","TRAP230","KIAA0192","ARC240","Kto","TNRC11","FGS1"],"tldr":"MED12 (Mediator of RNA polymerase II transcription subunit 12) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Cervical cancer, Endometrial cancer and 5 more.","summary":"Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.38, genetic association 0.19, somatic mutation 0.80). IntOGen calls it a driver in 14 cohorts (9 activating, 5 loss-of-function), covering Acute Lymphoblastic Leukaemia, Cervical Squamous Cell Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Glioblastoma Multiforme, Low-Grade Glioma, NOS, Neuroblastoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11957","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11957"},{"label":"UniProt Q93074","url":"https://www.uniprot.org/uniprotkb/Q93074/entry"},{"label":"NCBI Gene 9968","url":"https://www.ncbi.nlm.nih.gov/gene/9968"},{"label":"Ensembl ENSG00000184634","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184634"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","cervical","endometrial","skin-cancer","leukaemia","cll","all-leukemia","glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 9 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MED12","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11957","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11957","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q93074","url":"https://www.uniprot.org/uniprotkb/Q93074/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184634","url":"https://platform.opentargets.org/target/ENSG00000184634/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: skin cancer 0.52, leukaemia 0.51 (GraphQL API, CC0)"},{"label":"IntOGen MED12","url":"https://www.intogen.org/search?gene=MED12","note":"driver in 14 cohorts (Act 9, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11957","ensembl":"ENSG00000184634","uniprot":"Q93074","entrez":"9968","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1996, \"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8724849/","biology":"Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signalling pathway and SHH signalling pathway. Location: Nucleus (UniProt). Locus Xq13.1 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 5 cohorts (PRAD, PROSTATE)","Cervical cancer: IntOGen driver in 2 cohorts (CESC)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)","Chronic lymphocytic leukaemia: IntOGen driver in 2 cohorts (CLLSLL)"],"targetClass":"transcription","prevalence":[]},{"id":"med23","kind":"target","name":"MED23","aka":["mediator complex subunit 23","Mediator of RNA polymerase II transcription subunit 23","CRSP130","DRIP130","Sur2","CRSP3","MRT18"],"tldr":"MED23 (Mediator of RNA polymerase II transcription subunit 23) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer.","summary":"Required for transcriptional activation subsequent to the assembly of the pre-initiation complex. Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2372","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2372"},{"label":"UniProt Q9ULK4","url":"https://www.uniprot.org/uniprotkb/Q9ULK4/entry"},{"label":"NCBI Gene 9439","url":"https://www.ncbi.nlm.nih.gov/gene/9439"},{"label":"Ensembl ENSG00000112282","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112282"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MED23","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2372","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2372","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9ULK4","url":"https://www.uniprot.org/uniprotkb/Q9ULK4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MED23","url":"https://www.intogen.org/search?gene=MED23","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:2372","ensembl":"ENSG00000112282","uniprot":"Q9ULK4","entrez":"9439","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rachez et al, Nature, 1999, \"Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10235266/","biology":"Required for transcriptional activation subsequent to the assembly of the pre-initiation complex. Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signalling. Location: Nucleus (UniProt). Locus 6q23.2 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"mef2b","kind":"target","name":"MEF2B","aka":["myocyte enhancer factor 2B","Myocyte-specific enhancer factor 2B","RSRFR2"],"tldr":"MEF2B (Myocyte-specific enhancer factor 2B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Diffuse large B-cell lymphoma and Mantle cell lymphoma.","summary":"Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. IntOGen calls it a driver in 5 cohorts (2 activating, 3 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6995","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6995"},{"label":"UniProt Q02080","url":"https://www.uniprot.org/uniprotkb/Q02080/entry"},{"label":"NCBI Gene 100271849","url":"https://www.ncbi.nlm.nih.gov/gene/100271849"},{"label":"Ensembl ENSG00000213999","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000213999"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","dlbcl","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MEF2B","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6995","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6995","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02080","url":"https://www.uniprot.org/uniprotkb/Q02080/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MEF2B","url":"https://civicdb.org/features/33873","note":"2 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000213999","url":"https://platform.opentargets.org/target/ENSG00000213999/associations","note":"per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.56 (GraphQL API, CC0)"},{"label":"IntOGen MEF2B","url":"https://www.intogen.org/search?gene=MEF2B","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MEF2B: RNA tissue enriched (lymphoid tissue 37 nTPM); high antibody staining in 2 normal tissues; highest cancer staining lymphoma (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q02080","url":"https://www.uniprot.org/uniprotkb/Q02080/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MEF2B","url":"https://civicdb.org/features/33873","note":"2 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen MEF2B","url":"https://www.intogen.org/search?gene=MEF2B","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas MEF2B tissue","url":"https://www.proteinatlas.org/ENSG00000213999-MEF2B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000213999 associations","url":"https://platform.opentargets.org/target/ENSG00000213999/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6995","ensembl":"ENSG00000213999","uniprot":"Q02080","entrez":"100271849","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pollock et al, Genes Dev, 1991, \"Human SRF-related proteins: DNA-binding properties and potential regulatory targets\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1748287/","biology":"Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription. Location: Nucleus (UniProt). Locus 19p13.11 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 3 cohorts (DLBCLNOS)","Mantle cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"mef2c","kind":"target","name":"MEF2C","aka":["myocyte enhancer factor 2C","Myocyte-specific enhancer factor 2C"],"tldr":"MEF2C (Myocyte-specific enhancer factor 2C) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6996","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6996"},{"label":"UniProt Q06413","url":"https://www.uniprot.org/uniprotkb/Q06413/entry"},{"label":"NCBI Gene 4208","url":"https://www.ncbi.nlm.nih.gov/gene/4208"},{"label":"Ensembl ENSG00000081189","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000081189"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MEF2C","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6996","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6996","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06413","url":"https://www.uniprot.org/uniprotkb/Q06413/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MEF2C","url":"https://civicdb.org/features/3475","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MEF2C: RNA tissue enhanced (skeletal muscle 522 nTPM, tongue 231 nTPM); blood lineage group enriched (B-cells 189 nTPM, dendritic cells 100 nTPM, monocytes 83 nTPM); high antibody staining in 11 normal tissues; highest cancer staining melanoma (7 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MEF2C tissue","url":"https://www.proteinatlas.org/ENSG00000081189-MEF2C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000081189 associations","url":"https://platform.opentargets.org/target/ENSG00000081189/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6996","ensembl":"ENSG00000081189","uniprot":"Q06413","entrez":"4208","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Leifer et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"MEF2C, a MADS/MEF2-family transcription factor expressed in a laminar distribution in cerebral cortex\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7679508/","biology":"Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Location: Nucleus; Cytoplasm, sarcoplasm (UniProt). Locus 5q14.3 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"mef2d","kind":"target","name":"MEF2D","aka":["myocyte enhancer factor 2D","Myocyte-specific enhancer factor 2D"],"tldr":"MEF2D (Myocyte-specific enhancer factor 2D) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signalling in muscle-specific and/or growth factor-related transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6997","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6997"},{"label":"UniProt Q14814","url":"https://www.uniprot.org/uniprotkb/Q14814/entry"},{"label":"NCBI Gene 4209","url":"https://www.ncbi.nlm.nih.gov/gene/4209"},{"label":"Ensembl ENSG00000116604","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116604"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: B-cell Acute Lymphoblastic Leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MEF2D","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6997","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6997","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14814","url":"https://www.uniprot.org/uniprotkb/Q14814/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MEF2D","url":"https://civicdb.org/features/32","note":"1 evidence items, 0 assertions, 1 variants; diseases: B-cell Acute Lymphoblastic Leukaemia (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MEF2D: RNA tissue enhanced (skeletal muscle 158 nTPM); high antibody staining in 34 normal tissues; highest cancer staining breast cancer (11 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MEF2D tissue","url":"https://www.proteinatlas.org/ENSG00000116604-MEF2D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116604 associations","url":"https://platform.opentargets.org/target/ENSG00000116604/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6997","ensembl":"ENSG00000116604","uniprot":"Q14814","entrez":"4209","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Breitbart R.E. et al, Development, 1993, \"A fourth human MEF2 transcription factor, hMEF2D, is an early marker of the myogenic lineage\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8269842/","biology":"Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signalling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis. Location: Nucleus (UniProt). Locus 1q22 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"meis1","kind":"target","name":"MEIS1","aka":["Meis homeobox 1"],"tldr":"MEIS1 is HOXA9's partner in keeping leukaemia cells immature. The two are switched on together in KMT2A-rearranged and NPM1-mutant leukaemia, and switched off together when a menin inhibitor works.","summary":"MEIS1 (chromosome 2p14) is a homeobox transcriptional regulator that controls PAX6, activates PF4 in complex with PBX1 or PBX2, is required for haematopoiesis, megakaryocyte lineage development and vascular patterning, and may act as a cofactor for HOXA7 and HOXA9 in the induction of myeloid leukaemias (UniProt O00470). In OnCo it is, with HOXA9, the leukaemia programme downstream of the menin-KMT2A complex that revumenib and ziftomenib silence in KMT2A-rearranged and NPM1-mutant acute leukaemia (ziftomenib mechanism: displacing KMT2A complexes from menin silences HOXA9/MEIS1 and releases the differentiation block).","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:7000","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7000"},{"label":"UniProt O00470","url":"https://www.uniprot.org/uniprotkb/O00470/entry"},{"label":"NCBI Gene 4211","url":"https://www.ncbi.nlm.nih.gov/gene/4211"}],"tags":["wave5-target"],"related":["revumenib","ziftomenib","menin","hoxa9","kmt2a","npm1"],"cancers":["aml","all-leukemia","aml-npm1-kmt2a"],"sections":[],"technologies":["menin-inhibitors"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["menin-kmt2a","aml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"MEIS1","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:7000","ensembl":"ENSG00000143995","uniprot":"O00470","entrez":"4211","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Smith J.E. Jr. et al, Genomics, 1997, \"Cloning and mapping of the MEIS1 gene, the human homolog of a murine leukemogenic gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9226379/","biology":"Like HOXA9, MEIS1 is a transcription factor without a direct inhibitor in the corpus; its fall after menin inhibition is the mechanism step the revumenib and ziftomenib records describe.","whereFound":["KMT2A-rearranged acute leukaemia","NPM1-mutant AML","Haematopoietic stem cells and megakaryocyte lineage (normal function)"],"targetClass":"transcription","prevalence":[]},{"id":"mek","kind":"target","name":"MEK1/2","aka":[],"tldr":"MEK is the relay in the growth-signal chain that sits just below RAS and RAF. Blocking it starves BRAF- and RAS-driven tumours of their go signal.","summary":"Mitogen-activated protein kinase kinases 1 and 2 (MEK1/2, genes MAP2K1 and MAP2K2) are dual-specificity kinases that phosphorylate and activate ERK1/2, the final step of the RAS-RAF-MEK-ERK cascade. They are rarely mutated in cancer themselves but are the pathway's narrowest point, so allosteric MEK inhibitors (trametinib, cobimetinib, binimetinib, selumetinib, mirdametinib) are used with BRAF inhibitors in BRAF V600 melanoma, NSCLC and thyroid cancer, alone in NF1 plexiform neurofibromas and low-grade glioma, and with encorafenib in BRAF-mutant colorectal cancer. Paradoxical pathway reactivation and adaptive feedback limit single-agent activity in RAS-mutant tumours.","asOf":"2026-09-10","wikipedia":"https://en.wikipedia.org/wiki/MAP2K1","links":[{"label":"NCBI Gene MAP2K1","url":"https://www.ncbi.nlm.nih.gov/gene/5604"},{"label":"NCBI Gene MAP2K2","url":"https://www.ncbi.nlm.nih.gov/gene/5605"}],"tags":["kinase"],"related":[],"cancers":["melanoma","nsclc","thyroid","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["mirdametinib","atebimetinib","gc101-til"],"companies":[],"institutions":[],"pathways":["ras-mapk","aml-signalling","bladder-cancer-signalling","breast-cancer-signalling","cml-signalling","melanoma-signalling","nsclc-signalling","thyroid-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded as a positivity rate: MEK1/2 are ubiquitously expressed and MEK inhibitors are selected on upstream BRAF V600 (or NF1/RAS) status, not on MEK itself. MAP2K1/MAP2K2 mutations are recurrent but uncommon: Nikolaev 2012 reported an overall frequency of 8% in melanoma without a denominator in the abstract (doi:10.1038/ng.1026), and Hodis 2012 lists MAP2K1 among 11 significantly mutated genes in 121 melanomas without a per-gene rate in the main text (doi:10.1016/j.cell.2012.06.024); no series with a stated denominator was found for NSCLC, thyroid or colorectal cancer."],"symbol":"MAP2K1, MAP2K2","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 6 medicines aimed at it (Mirdametinib, Atebimetinib, GC101 TIL and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA MAP2K1: RNA low tissue specificity; no normal tissue stained high. HPA MAP2K2: RNA low tissue specificity; high antibody staining in 21 normal tissues; highest cancer staining thyroid cancer (4 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Langerhans cell histiocytosis (LCH), Skin cancer (all types), Lung cancer (all types), Thyroid cancer, Colorectal cancer); approvals of single-target medicines aimed at it also list Ovarian cancer, Brain and spinal cord tumours (all types), not counted; Open Targets associates it with 4 specific cancer types at or above 0.5 (melanoma, neurofibromatosis type 1, cutaneous melanoma, plexiform neurofibroma). Tissue-agnostic: Trametinib US 2014: \"With dabrafenib: metastatic melanoma; later adjuvant melanoma, NSCLC, anaplastic thyroid cancer, tumour-agnostic BRAF V6\". (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MAP2K1 tissue","url":"https://www.proteinatlas.org/ENSG00000169032-MAP2K1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MAP2K2 tissue","url":"https://www.proteinatlas.org/ENSG00000126934-MAP2K2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169032 associations","url":"https://platform.opentargets.org/target/ENSG00000169032/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000126934 associations","url":"https://platform.opentargets.org/target/ENSG00000126934/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Allosteric (non-ATP-competitive) inhibitors lock MEK in an inactive conformation. Toxicities reflect on-target ERK inhibition in normal tissue: rash, diarrhoea, retinal changes (central serous retinopathy), and reduced ejection fraction.","whereFound":["BRAF V600 melanoma (as combination partner)","NF1-associated plexiform neurofibroma","BRAF V600E NSCLC and anaplastic thyroid cancer","Paediatric low-grade glioma","Histiocytic neoplasms"],"targetClass":"kinase","prevalence":[{"cancerId":"langerhans-cell-histiocytosis","pct":27.5,"measure":"Somatic MAP2K1 mutation, 11 of 40 cases, mutually exclusive with BRAF V600E","source":"https://doi.org/10.1182/blood-2014-05-577361","note":"Found in half of BRAF wild-type cases; the basis for MEK inhibitor use in histiocytosis"}]},{"id":"menin","kind":"target","name":"Menin","aka":[],"tldr":"A scaffold protein that certain leukaemias need to keep their genes switched on; the first drug against it was approved in 2024.","summary":"Menin (encoded by MEN1) is a scaffold protein that links KMT2A fusion proteins to chromatin; small-molecule inhibitors displace the complex, switch off the leukaemia gene programme and let blasts differentiate. Revumenib (Revuforj) is approved for KMT2A-rearranged and NPM1-mutant acute leukaemia, and ziftomenib followed. NPM1 mutation is found in roughly 25 to 30 percent of AML and KMT2A rearrangement in about 5 to 10 percent, while KMT2A rearrangement drives around 70 percent of infant ALL. Menin inhibitors are the first transcription-complex disruptors in routine haematology, and combinations with venetoclax and azacitidine are in phase 3. Differentiation syndrome, QT prolongation and acquired MEN1 mutations that restore binding are the recognised open problems. It is a scaffold certain leukaemias need to keep their genes on, and the first drug against it was approved in 2024.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Menin","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Menin"}],"tags":["epigenetic"],"related":[],"cancers":["aml","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":["revumenib","ziftomenib"],"companies":[],"institutions":[],"pathways":["menin-kmt2a"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"MEN1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Revumenib, Ziftomenib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA MEN1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining liver cancer (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 8 specific cancer types at or above 0.5 (multiple endocrine neoplasia type 1, parathyroid gland adenoma, multiple endocrine neoplasia, Angiofibroma, lung carcinoid tumor, hereditary neoplastic syndrome and more); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MEN1 tissue","url":"https://www.proteinatlas.org/ENSG00000133895-MEN1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000133895 associations","url":"https://platform.opentargets.org/target/ENSG00000133895/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7010","ensembl":"ENSG00000133895","uniprot":"O00255","entrez":"4221","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chandrasekharappa S.C. et al, Science, 1997, \"Positional cloning of the gene for multiple endocrine neoplasia-type 1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9103196/","biology":"Menin is a scaffold linking KMT2A fusion proteins to chromatin; inhibitors displace the complex and differentiate blasts.","whereFound":["KMT2A-rearranged AML/ALL","NPM1-mutant AML"],"targetClass":"transcription","prevalence":[{"cancerId":"aml","pct":"25-30","measure":"NPM1 mutation","source":"https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018","note":"KMT2A rearrangement ~5-10%"},{"cancerId":"all-leukemia","pct":"5-10","measure":"KMT2A rearrangement (adult); ~70% infant ALL","source":"https://en.wikipedia.org/wiki/Menin"}]},{"id":"mertk","kind":"target","name":"MERTK","aka":["MER proto-oncogene, tyrosine kinase","Tyrosine-protein kinase Mer","mer","RP38","c-Eyk","Tyro12"],"tldr":"MERTK (Tyrosine-protein kinase Mer) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signalling molecules.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming UNC1062.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7027","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7027"},{"label":"UniProt Q12866","url":"https://www.uniprot.org/uniprotkb/Q12866/entry"},{"label":"NCBI Gene 10461","url":"https://www.ncbi.nlm.nih.gov/gene/10461"},{"label":"Ensembl ENSG00000153208","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153208"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MERTK","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7027","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7027","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12866","url":"https://www.uniprot.org/uniprotkb/Q12866/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MERTK","url":"https://civicdb.org/features/8331","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MERTK: RNA tissue enhanced (choroid plexus 90 nTPM); blood lineage lineage enriched (monocytes 9 nTPM); high antibody staining in 9 normal tissues; highest cancer staining renal cancer (9 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MERTK tissue","url":"https://www.proteinatlas.org/ENSG00000153208-MERTK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000153208 associations","url":"https://platform.opentargets.org/target/ENSG00000153208/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7027","ensembl":"ENSG00000153208","uniprot":"Q12866","entrez":"10461","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Graham D.K. et al, Cell Growth Differ, 1994, \"Cloning and mRNA expression analysis of a novel human protooncogene, c-mer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8086340/","biology":"Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signalling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTK signalling plays a role in various processes such as macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganisation and engulfment. Functions in the retinal pigment epithelium (RPE) as a regulator of rod outer segments fragments phagocytosis. Location: Cell membrane (UniProt). Locus 2q13 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"mesothelin","kind":"target","name":"Mesothelin","aka":[],"tldr":"Mesothelin is a surface protein on mesothelioma, ovarian, and pancreatic cancers, targeted by ADCs, CAR-T, and T-cell engagers.","summary":"Mesothelin (MSLN) is a GPI-anchored protein with restricted normal expression on mesothelial surfaces; it binds MUC16/CA-125 but its function is largely dispensable, so targeting it carries little on-target risk in healthy tissue. It is expressed in 85-100% of epithelioid mesothelioma (lower in sarcomatoid), 80-90% of pancreatic cancer, 60-70% of serous ovarian cancer, and lung adenocarcinoma. Anetumab ravtansine failed in mesothelioma, which set back the ADC route. Mesothelin remains a leading solid-tumour CAR-T target, including regionally delivered and mRNA-CAR approaches designed to overcome poor infiltration and short persistence, and T-cell engagers are also in development. The simple version is a surface protein shared by several hard-to-treat cancers that engineered immune cells can be aimed at.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Mesothelin","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Mesothelin"}],"tags":["car-t-target","adc-target"],"related":[],"cancers":["mesothelioma","pancreatic","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":["eb-mf-car-nk-01"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct07467863","nct07480954","nct07641023","nct07083323"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"MSLN","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 2 cell-killing or cell-finding medicines (EB-MF-CAR-NK-01, Anetumab ravtansine) aim at the antigen, which HPA finds stained high in 4 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA MSLN: RNA tissue enhanced (adipose tissue 89 nTPM, fallopian tube 262 nTPM); blood lineage group enriched (dendritic cells 6 nTPM, monocytes 2 nTPM); high antibody staining in 4 normal tissues; highest cancer staining pancreatic cancer (4 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Mesothelioma, Pancreatic ductal adenocarcinoma, Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MSLN tissue","url":"https://www.proteinatlas.org/ENSG00000102854-MSLN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MSLN pathology","url":"https://www.proteinatlas.org/ENSG00000102854-MSLN/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000102854 associations","url":"https://platform.opentargets.org/target/ENSG00000102854/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7371","ensembl":"ENSG00000102854","uniprot":"Q13421","entrez":"10232","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamaguchi et al, J. Biol. Chem, 1994, \"A novel cytokine exhibiting megakaryocyte potentiating activity from a human pancreatic tumor cell line HPC-Y5\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8288629/","biology":"Binds MUC16/CA-125; function largely dispensable.","whereFound":["Mesothelioma","Pancreatic","Ovarian","Lung adenocarcinoma"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"mesothelioma","pct":"85-100","measure":"Epithelioid histology","source":"https://en.wikipedia.org/wiki/Mesothelin","note":"Lower in sarcomatoid"},{"cancerId":"pancreatic","pct":"80-90","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/Mesothelin"},{"cancerId":"ovarian","pct":"60-70","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/Mesothelin","note":"Serous"}]},{"id":"met","kind":"target","name":"MET","aka":[],"tldr":"A receptor that is either mutated in some lung cancers or amplified as an escape route when other lung cancer drugs fail.","summary":"MET exon 14 skipping (~3% NSCLC) responds to capmatinib and tepotinib. MET amplification drives resistance to EGFR inhibitors; amivantamab (EGFR×MET) and MET ADCs (telisotuzumab vedotin, Emrelis, approved 2025 in c-Met overexpressing NSCLC) address it. c-MET×EGFR bispecific ADCs (tilatamig samrotecan) lead the bsADC field.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/C-Met","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/C-Met"}],"tags":["driver","kinase","adc-target"],"related":["met-ex14","met-amplification-readout","met-overexpression"],"cancers":["nsclc","gastric","rcc"],"sections":[],"technologies":[],"targets":[],"drugs":["guardant360-cdx","zanzalintinib","lam561","bezuclastinib","al2846","hs-20117","mcla-129","tqb6411","tqb2922","hdm2017","js111"],"companies":["imagene-ai","lucence","mythic-therapeutics"],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","hepatocellular-carcinoma-signalling","nsclc-signalling","renal-cell-carcinoma-signalling"],"terms":["met-exon-14-skipping","met-amplification"],"trials":["nct07439094","nct06669117"],"people":[],"bottlenecks":[],"keyPapers":["paper-awad-met-exon-14-mutations-lung-jco-2016","paper-tcga-lung-adenocarcinoma-nature-2014","paper-frampton-met-exon-14-cancer-discov-2015","paper-lindeman-lung-molecular-testing-guideline-jto-2018","paper-kris-lung-cancer-mutation-consortium-jama-2014","paper-engelman-met-amplification-gefitinib-resistance-science-2007"],"journals":[],"dependsOn":[],"notes":["Lung cancer: two separate biomarkers in one gene. Exon 14 skipping, 2 to 4% of adenocarcinomas, is a binary sequencing call and a first-line target, and it is the alteration a coding-exon panel most easily misses because the variants sit in the flanking introns (Frampton 2015, Awad 2016). Its patients are older (median 72.5 years), more often women (68%) and often never smokers (36%). MET amplification, 2 to 3%, is a continuous copy-number call with no agreed threshold, is more often acquired under EGFR blockade than present at diagnosis, and was the first bypass mechanism described, in 4 of 18 resistant specimens (Engelman 2007). Concurrent amplification of a mutated allele predicts the deepest responses (Awad 2016)."],"symbol":"MET","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression or amplification: 2 of 3 label readouts filed under it score protein level or gene copies (c-Met protein overexpression (IHC 3+ in >= 50% of tumour cells), MET amplification (gene copy number)), so the medicines rely on the tumour carrying more of it than normal tissue; 1 measure a variant (MET exon 14 skipping mutation). HPA MET: RNA tissue enhanced (liver 40 nTPM); high antibody staining in 8 normal tissues; highest cancer staining colorectal cancer (7 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Gastric & gastro-oesophageal junction cancer, Renal cell carcinoma); approvals of single-target medicines aimed at it also list Brain and spinal cord tumours (all types), not counted; Open Targets associates it with 7 specific cancer types at or above 0.5 (papillary renal cell carcinoma, hereditary papillary renal cell carcinoma, hepatocellular carcinoma, renal cell carcinoma, non-small cell lung carcinoma, medullary thyroid gland carcinoma and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"c-Met protein overexpression (IHC 3+ in >= 50% of tumour cells) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=bc04f980-3957-4e35-ab81-8ec2ffe87215","note":">= 50% of tumour cells with strong (3+) staining"},{"label":"MET amplification (gene copy number)","url":"https://clinicaltrials.gov/study/NCT03778229","note":"SAVANNAH trial (NCT03778229): MET overexpression and/or amplification defined by IHC 90 percent 3+ or FISH 10 or more copies"},{"label":"Human Protein Atlas MET tissue","url":"https://www.proteinatlas.org/ENSG00000105976-MET/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MET pathology","url":"https://www.proteinatlas.org/ENSG00000105976-MET/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105976 associations","url":"https://platform.opentargets.org/target/ENSG00000105976/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7029","ensembl":"ENSG00000105976","uniprot":"P08581","entrez":"4233","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dean et al, Nature, 1985, \"The human met oncogene is related to the tyrosine kinase oncogenes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/4069211/","biology":"HGF receptor; drives invasion and survival.","whereFound":["NSCLC","Gastric","Papillary RCC","HCC","Non-small-cell lung cancer: splice-site or juxtamembrane alteration deleting exon 14 2-4%","Non-small-cell lung cancer: high-level focal amplification 2-3%"],"targetClass":"kinase","prevalence":[{"cancerId":"nsclc","pct":"3-4","measure":"Exon 14 skipping","source":"https://www.cbioportal.org/study/summary?id=luad_tcga_pan_can_atlas_2018","note":"Amplification in 5-20% post-EGFR TKI; c-MET overexpression ~25% of non-squamous"},{"cancerId":"gastric","pct":"2-5","measure":"Amplification","source":"https://www.cbioportal.org/study/summary?id=stad_tcga_pan_can_atlas_2018"},{"cancerId":"rcc","pct":"10-15","measure":"Papillary RCC type 1 alterations","source":"https://www.cbioportal.org/study/summary?id=kirp_tcga_pan_can_atlas_2018"},{"cancerId":"nsclc","pct":"2-4","measure":"Splice-site or juxtamembrane alteration deleting exon 14","source":"https://www.cbioportal.org/study/summary?id=nsclc_ctdx_msk_2022","note":"cBioPortal, samples with a splice-site or juxtamembrane exon 14 alteration: 96 of 2,621, 3.7%, in nsclc_ctdx_msk_2022; 66 of 2,653, 2.5%, in luad_mskcc_2023_met_organotropism; 27 of 915, 3.0%, in lung_msk_2017; 9 of 566, 1.6%, in luad_tcga_pan_can_atlas_2018; 5 of 232, 2.2%, in lung_nci_2022. Independent counts: 28 of 933 non-squamous lung cancers, 3.0% (Awad 2016); exon 14 skipping was read directly in the messenger RNA of 4% of the 230 TCGA adenocarcinomas (Cancer Genome Atlas Research Network 2014); and the alterations are diverse across tumour types rather than a single hotspot (Frampton 2015)."},{"cancerId":"nsclc","pct":"2-3","measure":"High-level focal amplification","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal high-level amplification: 79 of 2,422, 3.3%, in luad_mskcc_2023_met_organotropism; 25 of 915, 2.7%, in lung_msk_2017; 42 of 2,621, 1.6%, in nsclc_ctdx_msk_2022; 11 of 511, 2.2%, in luad_tcga_pan_can_atlas_2018; 8 of 230, 3.5%, in luad_tcga_pub. As a primary driver it is rarer still: MET amplification was the driver in 5 of 733 fully genotyped adenocarcinomas, under 1% (Kris 2014)."}]},{"id":"mga","kind":"target","name":"MGA","aka":["MAX dimerization protein MGA","MAX gene-associated protein","KIAA0518","MAD5","MXD5","FLJ12634"],"tldr":"MGA (MAX gene-associated protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Mesothelioma, Prostate cancer, Diffuse large B-cell lymphoma and 3 more.","summary":"Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5'-AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regulate MYC-MAX target genes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 5 cohorts (0 activating, 5 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Lung Adenocarcinoma, Pleural Mesothelioma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14010"},{"label":"UniProt Q8IWI9","url":"https://www.uniprot.org/uniprotkb/Q8IWI9/entry"},{"label":"NCBI Gene 23269","url":"https://www.ncbi.nlm.nih.gov/gene/23269"},{"label":"Ensembl ENSG00000174197","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000174197"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["mesothelioma","prostate","dlbcl","cll","nsclc","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MGA","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14010","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IWI9","url":"https://www.uniprot.org/uniprotkb/Q8IWI9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MGA","url":"https://civicdb.org/features/9427","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen MGA","url":"https://www.intogen.org/search?gene=MGA","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MGA: RNA low tissue specificity; high antibody staining in 2 normal tissues. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Mesothelioma, Prostate cancer, Lymphoma, Leukaemia, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q8IWI9","url":"https://www.uniprot.org/uniprotkb/Q8IWI9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MGA","url":"https://civicdb.org/features/9427","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen MGA","url":"https://www.intogen.org/search?gene=MGA","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas MGA tissue","url":"https://www.proteinatlas.org/ENSG00000174197-MGA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000174197 associations","url":"https://platform.opentargets.org/target/ENSG00000174197/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14010","ensembl":"ENSG00000174197","uniprot":"Q8IWI9","entrez":"23269","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9628581/","biology":"Functions as a dual-specificity transcription factor, regulating the expression of both MAX-network and T-box family target genes. Functions as a repressor or an activator. Binds to 5'-AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regulate MYC-MAX target genes. Suppresses transcriptional activation by MYC and inhibits MYC-dependent cell transformation. Function activated by heterodimerisation with MAX. This heterodimerisation serves the dual function of both generating an E-box-binding heterodimer and simultaneously blocking interaction of a corepressor. Location: Nucleus (UniProt). Locus 15q15 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Diffuse large B-cell lymphoma: CIViC evidence names this disease","Chronic lymphocytic leukaemia: IntOGen driver in 2 cohorts (CLLSLL)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"mgmt-protein","kind":"target","name":"MGMT (O6-methylguanine-DNA methyltransferase)","aka":["O-6-methylguanine-DNA methyltransferase","AGT","O6-alkylguanine DNA alkyltransferase"],"tldr":"MGMT is a DNA repair enzyme that removes the damage temozolomide causes; when the gene is switched off by methylation the tumour cannot repair itself and the drug works better.","summary":"MGMT is a suicide enzyme that transfers alkyl groups off the O6 position of guanine onto itself, reversing the lesion that temozolomide and nitrosoureas rely on. Promoter methylation silences the gene in about 40 percent of glioblastomas and predicts longer survival with temozolomide; the readout page under this target carries the test methods and the trials that use methylation to select or spare chemotherapy.","asOf":"2026-09-23","wikipedia":"https://en.wikipedia.org/wiki/O-6-methylguanine-DNA_methyltransferase","links":[{"label":"HGNC HGNC:7059","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7059"},{"label":"UniProt P16455","url":"https://www.uniprot.org/uniprotkb/P16455/entry"}],"tags":["biomarker-parent"],"related":["mgmt-promoter-methylation"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":["temozolomide"],"companies":[],"institutions":[],"pathways":[],"terms":["mgmt"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"MGMT","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"approved-drug","sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal liver, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA MGMT: RNA tissue enhanced (liver 126 nTPM); high antibody staining in 30 normal tissues; highest cancer staining renal cancer (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MGMT tissue","url":"https://www.proteinatlas.org/ENSG00000170430-MGMT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MGMT pathology","url":"https://www.proteinatlas.org/ENSG00000170430-MGMT/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000170430 associations","url":"https://platform.opentargets.org/target/ENSG00000170430/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7059","ensembl":"ENSG00000170430","uniprot":"P16455","entrez":"4255","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tano et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Isolation and structural characterization of a cDNA clone encoding the human DNA repair protein for O6-alkylguanine\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2405387/","biology":"Loss of MGMT leaves O6-methylguanine unrepaired, which mispairs with thymine and triggers mismatch-repair-driven cell death; tumours that lose mismatch repair as well become hypermutated and resistant.","whereFound":["Glioblastoma (promoter methylation in about 40 percent)","Lower-grade gliomas","Neuroendocrine tumours (low MGMT expression and alkylator response)"],"targetClass":"enzyme","prevalence":[]},{"id":"mib2","kind":"target","name":"MIB2","aka":["MIB E3 ubiquitin protein ligase 2","E3 ubiquitin-protein ligase MIB2","skeletrophin","ZZZ5","FLJ39787","ZZANK1"],"tldr":"MIB2 (E3 ubiquitin-protein ligase MIB2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Head and neck squamous cell carcinoma.","summary":"E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signalling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Head and Neck Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30577","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30577"},{"label":"UniProt Q96AX9","url":"https://www.uniprot.org/uniprotkb/Q96AX9/entry"},{"label":"NCBI Gene 142678","url":"https://www.ncbi.nlm.nih.gov/gene/142678"},{"label":"Ensembl ENSG00000197530","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197530"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MIB2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30577","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30577","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96AX9","url":"https://www.uniprot.org/uniprotkb/Q96AX9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MIB2","url":"https://www.intogen.org/search?gene=MIB2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30577","ensembl":"ENSG00000197530","uniprot":"Q96AX9","entrez":"142678","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeuchi, 2002, \"A novel zinc finger protein\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96AX9/entry","biology":"E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signalling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Location: Cytoplasm; Endosome (UniProt). Locus 1p36.33 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"mien1","kind":"target","name":"MIEN1","aka":["migration and invasion enhancer 1","C17orf37","C35"],"tldr":"MIEN1 is a small HER2-amplicon gene whose protein promotes cell migration and is strongly raised in breast and prostate cancers.","summary":"17q12 HER2 amplicon neighbour: co-amplified and co-expressed with ERBB2 in HER2-positive breast and gastric cancer, so it appears in HER2-enriched expression signatures as a passenger of the amplification rather than a driver of its own. UniProt notes that MIEN1 is nearly absent from normal tissue outside the testis yet strongly up-regulated in breast cancer and in higher-grade prostate cancer, which makes it one of the more interesting passengers.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:28230","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28230"},{"label":"UniProt Q9BRT3","url":"https://www.uniprot.org/uniprotkb/Q9BRT3/entry"}],"tags":["cansim-terms"],"related":["her2"],"cancers":["breast-cancer","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["co-amplification","cancer-ai-vocabulary"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"MIEN1","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:28230","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28230","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt Q9BRT3","url":"https://www.uniprot.org/uniprotkb/Q9BRT3/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:28230","ensembl":"ENSG00000141741","uniprot":"Q9BRT3","entrez":"84299","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Liu et al, 2002, \"Cloning and identification of human gene 4 transactivated by hepatitis B virus X antigen\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9BRT3/entry","biology":"Increases cell migration by inducing filopodia at the leading edge; regulates apoptosis, possibly through CASP3; among normal tissues present only in Leydig cells, strongly up-regulated in breast cancers and higher-grade prostate adenocarcinoma at the protein level (UniProt Q9BRT3).","whereFound":["Locus 17q12 (HGNC)."],"targetClass":"other","prevalence":[]},{"id":"minpp1","kind":"target","name":"MINPP1","aka":["multiple inositol-polyphosphate phosphatase 1","Multiple inositol polyphosphate phosphatase 1"],"tldr":"MINPP1 (Multiple inositol polyphosphate phosphatase 1) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Thyroid cancer.","summary":"Multiple inositol polyphosphate phosphatase that hydrolyses 1D-myo-inositol 1,3,4,5,6-pentakisphosphate (InsP5[2OH]) and 1D-myo-inositol hexakisphosphate (InsP6) to a range of less phosphorylated inositol phosphates. This regulates the availability of these various small molecule second messengers and metal chelators which control many aspects of cell physiology. Has a weak in vitro activity towards 1D-myo-inositol 1,4,5-trisphosphate which is unlikely to be physiologically relevant.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.75, genetic association 0.71, somatic mutation 0.55, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7102","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7102"},{"label":"UniProt Q9UNW1","url":"https://www.uniprot.org/uniprotkb/Q9UNW1/entry"},{"label":"NCBI Gene 9562","url":"https://www.ncbi.nlm.nih.gov/gene/9562"},{"label":"Ensembl ENSG00000107789","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107789"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MINPP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7102","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7102","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UNW1","url":"https://www.uniprot.org/uniprotkb/Q9UNW1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107789","url":"https://platform.opentargets.org/target/ENSG00000107789/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: thyroid cancer 0.62 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7102","ensembl":"ENSG00000107789","uniprot":"Q9UNW1","entrez":"9562","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Caffrey J.J. et al, FEBS Lett, 1999, \"The human and rat forms of multiple inositol polyphosphate phosphatase: functional homology with a histidine acid phosphatase up-regulated during endochondral ossification\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9923613/","biology":"Multiple inositol polyphosphate phosphatase that hydrolyses 1D-myo-inositol 1,3,4,5,6-pentakisphosphate (InsP5[2OH]) and 1D-myo-inositol hexakisphosphate (InsP6) to a range of less phosphorylated inositol phosphates. This regulates the availability of these various small molecule second messengers and metal chelators which control many aspects of cell physiology. Has a weak in vitro activity towards 1D-myo-inositol 1,4,5-trisphosphate which is unlikely to be physiologically relevant. By regulating intracellular inositol polyphosphates pools, which act as metal chelators, it may control the availability of intracellular calcium and iron, which are important for proper neuronal development and homeostasis. May have a dual substrate specificity, and function as a 2,3-bisphosphoglycerate 3-phosphatase hydrolysing 2,3-bisphosphoglycerate to 2-phosphoglycerate. 2,3-bisphosphoglycerate (BPG) is formed as part of the Rapoport-Luebering glycolytic bypass and is a regulator of systemic oxygen homeostasis as the major allosteric effector of haemoglobin. Location: Endoplasmic reticulum lumen; Secreted; Cell membrane (UniProt). Locus 10q23.2 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.62 with thyroid cancer (MONDO_0002108)"],"targetClass":"enzyme","prevalence":[]},{"id":"mir21","kind":"target","name":"MIR21","aka":["microRNA 21","hsa-mir-21","MIR-21","MIRN21"],"tldr":"MIR21 (microRNA 21) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"UniProt has no function text for this gene; HGNC names it \"microRNA 21\".\n\nCIViC holds 4 clinical evidence items and 0 assertions across 1 variant, naming Cisplatin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:31586","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31586"},{"label":"NCBI Gene 406991","url":"https://www.ncbi.nlm.nih.gov/gene/406991"},{"label":"Ensembl ENSG00000284190","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000284190"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["micrornas-in-cancer"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Malignant Astrocytoma; Glioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MIR21","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:31586","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31586","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"CIViC gene MIR21","url":"https://civicdb.org/features/24929","note":"4 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma, Malignant Astrocytoma, Glioma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: the Human Protein Atlas has no row for MIR21 and no corpus medicine is aimed at it. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Open Targets ENSG00000284190 associations","url":"https://platform.opentargets.org/target/ENSG00000284190/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:31586","ensembl":"ENSG00000284190","entrez":"406991","biology":"UniProt has no function text for this gene; HGNC names it \"microRNA 21\". Locus 17q23.1 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"mir218-1","kind":"target","name":"MIR218-1","aka":["microRNA 218-1","hsa-mir-218-1","MIRN218-1"],"tldr":"MIR218-1 (microRNA 218-1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Pancreatic ductal adenocarcinoma.","summary":"UniProt has no function text for this gene; HGNC names it \"microRNA 218-1\".\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:31595","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31595"},{"label":"NCBI Gene 407000","url":"https://www.ncbi.nlm.nih.gov/gene/407000"},{"label":"Ensembl ENSG00000207732","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000207732"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MIR218-1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:31595","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31595","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"CIViC gene MIR218-1","url":"https://civicdb.org/features/24938","note":"3 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Pancreatic Cancer (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: the Human Protein Atlas has no row for MIR218-1 and no corpus medicine is aimed at it. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Pancreatic ductal adenocarcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Open Targets ENSG00000207732 associations","url":"https://platform.opentargets.org/target/ENSG00000207732/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:31595","ensembl":"ENSG00000207732","entrez":"407000","biology":"UniProt has no function text for this gene; HGNC names it \"microRNA 218-1\". Locus 4p15.31 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"mmr","kind":"target","name":"Mismatch repair proteins (MLH1, MSH2, MSH6, PMS2)","aka":["MMR proteins","mismatch repair","MLH1","MSH2","MSH6","PMS2","Lynch syndrome genes"],"tldr":"The four mismatch repair proteins proofread newly copied DNA; when a tumour loses one of them its DNA fills with small errors, and that state (dMMR or MSI-high) is what lets immunotherapy work across many cancers.","summary":"MLH1, MSH2, MSH6 and PMS2 form the MutS and MutL complexes that recognise and excise base mismatches and slipped repeats after replication. Loss of any one, by germline mutation (Lynch syndrome), somatic mutation or MLH1 promoter methylation, produces mismatch repair deficiency, read directly by immunohistochemistry for the four proteins or indirectly as microsatellite instability by PCR or sequencing. The two readouts under this record carry the label thresholds for pembrolizumab, nivolumab, ipilimumab, dostarlimab and durvalumab and the companion diagnostics that report them.","asOf":"2026-09-23","wikipedia":"https://en.wikipedia.org/wiki/DNA_mismatch_repair","links":[{"label":"HGNC HGNC:7127","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7127"},{"label":"HGNC HGNC:7325","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7325"},{"label":"HGNC HGNC:7329","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7329"},{"label":"HGNC HGNC:9122","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9122"}],"tags":["biomarker-parent"],"related":["msi-high","dmmr-ihc"],"cancers":["colorectal","endometrial","endometrial-mmr-deficient","gastric-msi-high","tnbc","pancreatic","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":["pembrolizumab","dostarlimab","nivolumab"],"companies":[],"institutions":[],"pathways":[],"terms":["msi","mss-pmmr","mlh1-promoter-methylation","lynch-syndrome"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-ren-tnbc-mmr-msi-440-front-oncol-2021","paper-kurata-japanese-tnbc-msi-breast-cancer-2020","paper-staaf-tnbc-whole-genome-scan-b-nat-med-2019","paper-hu-mismatch-repair-deficiency-pancreatic-adenocarcinoma-ccr-2018","paper-singhi-targeted-genome-profiling-3594-pdac-gastroenterology-2019","paper-luchini-msi-dmmr-pancreatic-systematic-review-gut-2021","paper-philip-kras-wild-type-pancreatic-ccr-2022","paper-hu-germline-mutations-pancreatic-cancer-risk-jama-2018","paper-keynote-158-pembrolizumab-msi-high-noncolorectal-jco-2020","paper-tcga-colorectal-comprehensive-characterization-nature-2012","paper-giannakis-genomic-correlates-immune-colorectal-cell-rep-2016","paper-venderbosch-mmr-braf-metastatic-colorectal-pooled-ccr-2014","paper-koopman-deficient-mismatch-repair-advanced-colorectal-bjc-2009","paper-weisenberger-cimp-braf-mlh1-colorectal-nat-genet-2006","paper-herman-mlh1-promoter-hypermethylation-colorectal-pnas-1998","paper-ligtenberg-epcam-deletion-msh2-silencing-nat-genet-2009","paper-moreira-lynch-syndrome-identification-jama-2012","paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","paper-goeppert-cholangiocarcinoma-mmr-deficiency-bjc-2019","paper-weinberg-biliary-profiling-jgo-2019"],"journals":[],"dependsOn":[],"notes":["Per-gene identifiers from HGNC: MLH1 HGNC:7127, ENSG00000076242, UniProt P40692; MSH2 HGNC:7325, ENSG00000095002, UniProt P43246; MSH6 HGNC:7329, ENSG00000116062, UniProt P52701; PMS2 HGNC:9122, ENSG00000122512, UniProt P54278.","Triple-negative breast cancer: MSI-high in 0 of 195 Chinese (Ren 2021) and 2 of 228 Japanese TNBCs (Kurata 2020); about 4.7% of HRDetect-low genomes were mismatch repair-deficient (Staaf 2019). The tumour-agnostic pembrolizumab route almost never applies; TMB and PD-L1 are the immunotherapy biomarkers in this cancer.","Pancreatic ductal adenocarcinoma: deficiency in about 1 to 2% and in 0.8% of 833 MSK patients, all of whom had Lynch syndrome, with 4 of 7 benefiting from checkpoint blockade (Hu 2018, Clin Cancer Res; Luchini 2021). It is enriched in medullary and colloid histology and in KRAS/TP53 wild-type tumours, so those are the cases to test by immunohistochemistry with PCR for doubtful results. Pembrolizumab's tumour-agnostic indication is the only approved immunotherapy route here (Marabelle 2020).","Colorectal cancer: deficient in 10 to 15% of resected disease but only about 5% of first-line metastatic disease (153 of 3,063; Venderbosch 2014) and 3.5% in one advanced cohort (Koopman 2009), because these tumours metastasise less readily. Sporadic cases come from CIMP-associated MLH1 promoter methylation, almost always with BRAF V600E (Weisenberger 2006, Herman 1998); inherited cases are Lynch syndrome, including 3' EPCAM deletions that silence MSH2 in cis (Ligtenberg 2009). Testing every colorectal cancer finds 100% of Lynch syndrome carriers against 87.8% for the Bethesda guidelines (Moreira 2012), so universal four-protein immunohistochemistry is now standard and identifies the immunotherapy population as a by-product. About a third of deficient tumours still fail checkpoint blockade, and biallelic B2M or HLA loss is the documented escape route (Grasso 2018).","Gallbladder cancer: MSI-high in 6 of 244 samples (2.5%, MSIsensor) in cBioPortal gbc_mskcc_2022 and 0.6% (2 of 170) of Indian patients (Suryavanshi 2025); 1.3% in Western cholangiocarcinoma (Goeppert 2019)."],"symbol":"MLH1, MSH2, MSH6, PMS2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Tumour-associated overexpression or amplification: 1 of 2 label readouts filed under it score protein level or gene copies (dMMR (mismatch repair deficiency by IHC)), so the medicines rely on the tumour carrying more of it than normal tissue. HPA MLH1: RNA low tissue specificity; high antibody staining in 32 normal tissues; highest cancer staining cervical cancer (7 of 11 high). HPA MSH2: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining glioma (4 of 12 high). HPA MSH6: RNA low tissue specificity; high antibody staining in 35 normal tissues; highest cancer staining breast cancer (11 of 11 high). HPA PMS2: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining glioma (3 of 12 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Colorectal cancer, Endometrial cancer, Gastric & gastro-oesophageal junction cancer); approvals of single-target medicines aimed at it also list Pancreatic ductal adenocarcinoma, Breast cancer (all types), Lung cancer (all types), Skin cancer (all types) and more, not counted; Open Targets associates it with 27 specific cancer types at or above 0.5 (Lynch syndrome, colorectal cancer, mismatch repair cancer syndrome 1, Muir-Torre syndrome, colon carcinoma, mismatch repair cancer syndrome and more). Tissue-agnostic: dMMR (mismatch repair deficiency by IHC) threshold \"MSI-H or dMMR, tumour-agnostic\" for Pembrolizumab is tissue-agnostic; MSI-high (microsatellite instability by PCR or sequencing) threshold \"MSI-H or dMMR, tumour-agnostic\" for Pembrolizumab is tissue-agnostic; Pembrolizumab US 2017: \"MSI-H/dMMR solid tumours (tumour-agnostic)\". (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"dMMR (mismatch repair deficiency by IHC) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=9333c79b-d487-4538-a9f0-71b91a02b287","note":"MSI-H or dMMR, tumour-agnostic"},{"label":"Human Protein Atlas MLH1 tissue","url":"https://www.proteinatlas.org/ENSG00000076242-MLH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MLH1 pathology","url":"https://www.proteinatlas.org/ENSG00000076242-MLH1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MSH2 tissue","url":"https://www.proteinatlas.org/ENSG00000095002-MSH2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MSH2 pathology","url":"https://www.proteinatlas.org/ENSG00000095002-MSH2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MSH6 tissue","url":"https://www.proteinatlas.org/ENSG00000116062-MSH6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MSH6 pathology","url":"https://www.proteinatlas.org/ENSG00000116062-MSH6/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PMS2 tissue","url":"https://www.proteinatlas.org/ENSG00000122512-PMS2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PMS2 pathology","url":"https://www.proteinatlas.org/ENSG00000122512-PMS2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000076242 associations","url":"https://platform.opentargets.org/target/ENSG00000076242/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000095002 associations","url":"https://platform.opentargets.org/target/ENSG00000095002/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Deficient repair raises the mutation rate a hundredfold and produces frameshift neoantigens in repeat-containing genes, which is the mechanistic basis for checkpoint inhibitor sensitivity.","whereFound":["Colorectal cancer (about 15 percent, most sporadic through MLH1 methylation)","Endometrial cancer (about 25 to 30 percent)","Gastric, small bowel, urothelial and other Lynch-spectrum tumours","Triple-negative breast cancer: microsatellite instability or mismatch repair deficiency 0-2%","Pancreatic ductal adenocarcinoma: mismatch repair deficiency or microsatellite instability 0.5-2%","Colorectal cancer: microsatellite instability or mismatch repair deficiency 5-15%","Gallbladder cancer: microsatellite instability (msi-high) 0.6-2.5%"],"targetClass":"enzyme","prevalence":[{"cancerId":"tnbc","pct":"0-2","measure":"Microsatellite instability or mismatch repair deficiency","source":"https://doi.org/10.3389/fonc.2021.570623","note":"No MSI-high tumour among 195 by PCR and one mismatch-repair-deficient tumour (lost MSH2) among 440 by IHC in Chinese TNBC (Ren 2021); 2 of 228 Japanese TNBCs MSI-high, 0.9% (Kurata 2020); about 4.7% of HRDetect-low tumours, roughly 1.7% of all 237 whole genomes, mismatch-repair deficient (Staaf 2019); cBioPortal: MSIsensor score 10 or more in 3 of 122 triple-negative exomes in brca_tcga_pan_can_atlas_2018, an algorithmic call not confirmed by PCR."},{"cancerId":"pancreatic","pct":"0.5-2","measure":"Mismatch repair deficiency or microsatellite instability","source":"https://doi.org/10.1158/1078-0432.CCR-17-3099","note":"7 of 833, 0.8%, all with Lynch syndrome, 4 of 7 benefiting from checkpoint blockade (Hu 2018, Clin Cancer Res); MSI-high and/or TMB-high in 0.5% of 2,563 assessed (Singhi 2019); 1 to 2% across 34 studies and 8,323 patients, associated with medullary and colloid histology and KRAS/TP53 wild-type background (Luchini 2021); 4.7% of KRAS wild-type against 0.7% of KRAS-mutant tumours (Philip 2022); cBioPortal: MSI_TYPE unstable in 6 of 1,119 reported samples and MSIsensor score 10 or more in 10 of 2,314 in pdac_msk_2024; 2 of 323 reported in pancreas_msk_2024; no TCGA sample reached MANTIS 0.4. Germline MLH1 0.13% of 3,030, odds ratio 6.66 (Hu 2018, JAMA)."},{"cancerId":"colorectal","pct":"5-15","measure":"Microsatellite instability or mismatch repair deficiency","source":"https://doi.org/10.1038/nature11252","note":"Stage matters more than anything else. In unselected surgical series: 38 of 276, 13.8%, MSI-high in the TCGA cohort with a further 44 MSI-low (Cancer Genome Atlas Network 2012); 91 of 529, 17.2%, in the 619-exome prospective cohort (Giannakis 2016); 770 of 7,217, 10.7%, in crc_msk_2026, which splits into 710 of 5,138 primaries (13.8%) and 59 of 2,045 metastases (2.9%); 125 of 1,513, 8.3%, in crc_eo_2020; 76 of 1,015, 7.5%, in crc_sysucc_2022 (cBioPortal). In first-line metastatic trial populations it collapses: 153 of 3,063, 5.0%, pooled across CAIRO, CAIRO2, COIN and FOCUS (Venderbosch 2014) and 18 of 515, 3.5%, in a phase 3 advanced cohort, 13 of them from MLH1 promoter hypermethylation (Koopman 2009)."},{"cancerId":"gallbladder","pct":"0.6-2.5","measure":"Microsatellite instability (MSI-high)","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"6 of 244 samples, 2.5%, called unstable by MSIsensor in cBioPortal gbc_mskcc_2022; 0.6% (2 of 170 tested) in Indian patients (Suryavanshi 2025); 1.3% (4 of 308) in Western cholangiocarcinoma by mononucleotide markers (Goeppert 2019); gallbladder and intrahepatic tumours carried more MSI-high, PD-L1 and TMB-high than extrahepatic (Weinberg 2019)."}]},{"id":"mitf","kind":"target","name":"MITF","aka":["melanocyte inducing transcription factor","Microphthalmia-associated transcription factor","bHLHe32","WS2A","WS2"],"tldr":"MITF (Microphthalmia-associated transcription factor) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer, Ovarian cancer and 2 more.","summary":"Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Vemurafenib, Dabrafenib, PLX4720 and Selumetinib. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.24, affected pathway 0.61, literature 0.98, genetic association 0.84, somatic mutation 0.98, animal model 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7105","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7105"},{"label":"UniProt O75030","url":"https://www.uniprot.org/uniprotkb/O75030/entry"},{"label":"NCBI Gene 4286","url":"https://www.ncbi.nlm.nih.gov/gene/4286"},{"label":"Ensembl ENSG00000187098","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187098"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["skin-cancer","breast-cancer","ovarian","prostate","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["melanoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MITF","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7105","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7105","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75030","url":"https://www.uniprot.org/uniprotkb/O75030/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MITF","url":"https://civicdb.org/features/3527","note":"2 evidence items, 0 assertions, 2 variants; diseases: Melanoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000187098","url":"https://platform.opentargets.org/target/ENSG00000187098/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: prostate cancer 0.51, ovarian cancer 0.56, melanoma 0.75, skin cancer 0.73, breast cancer 0.59 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MITF: RNA low tissue specificity; blood lineage group enriched (dendritic cells 7 nTPM, granulocytes 6 nTPM, monocytes 10 nTPM); high antibody staining in 1 normal tissue; highest cancer staining melanoma (5 of 9 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Breast cancer (all types), Ovarian cancer, Prostate cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (melanoma, cutaneous malignant, susceptibility to, 8, cutaneous melanoma, melanoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MITF tissue","url":"https://www.proteinatlas.org/ENSG00000187098-MITF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187098 associations","url":"https://platform.opentargets.org/target/ENSG00000187098/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7105","ensembl":"ENSG00000187098","uniprot":"O75030","entrez":"4286","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tachibana et al, Hum. Mol. Genet, 1994, \"Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8069297/","biology":"Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation. Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity. Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. Location: Nucleus; Cytoplasm; Lysosome membrane (UniProt). Locus 3p13 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.73 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170)","Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)","Melanoma: Open Targets association 0.75 with melanoma (MONDO_0005105); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"mlf1","kind":"target","name":"MLF1","aka":["myeloid leukemia factor 1","Myeloid leukemia factor 1"],"tldr":"MLF1 (Myeloid leukaemia factor 1) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Lung cancer.","summary":"Involved in lineage commitment of primary haemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses COP1 activity via CSN3 which activates p53 and induces cell cycle arrest.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.49, genetic association 0.00, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7125","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7125"},{"label":"UniProt P58340","url":"https://www.uniprot.org/uniprotkb/P58340/entry"},{"label":"NCBI Gene 4291","url":"https://www.ncbi.nlm.nih.gov/gene/4291"},{"label":"Ensembl ENSG00000178053","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178053"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MLF1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7125","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7125","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P58340","url":"https://www.uniprot.org/uniprotkb/P58340/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000178053","url":"https://platform.opentargets.org/target/ENSG00000178053/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: lung cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7125","ensembl":"ENSG00000178053","uniprot":"P58340","entrez":"4291","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yoneda-Kato et al, Oncogene, 1996, \"The t(3;5)(q25.1;q34) of myelodysplastic syndrome and acute myeloid leukemia produces a novel fusion gene, NPM-MLF1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8570204/","biology":"Involved in lineage commitment of primary haemopoietic progenitors by restricting erythroid formation and enhancing myeloid formation. Interferes with erythropoietin-induced erythroid terminal differentiation by preventing cells from exiting the cell cycle through suppression of CDKN1B/p27Kip1 levels. Suppresses COP1 activity via CSN3 which activates p53 and induces cell cycle arrest. Binds DNA and affects the expression of a number of genes so may function as a transcription factor in the nucleus. Location: Cytoplasm; Nucleus; Cell projection, cilium; Cytoplasm, cytoskeleton, cilium basal body (UniProt). Locus 3q25.32 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)"],"targetClass":"other","prevalence":[]},{"id":"mlh1","kind":"target","name":"MLH1","aka":["mutL homolog 1","DNA mismatch repair protein Mlh1","HNPCC","FCC2","HNPCC2","MLH-1","COCA2"],"tldr":"MLH1 (DNA mismatch repair protein Mlh1) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Ovarian cancer, Endometrial cancer and 4 more.","summary":"Heterodimerises with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2.\n\nCIViC holds 29 clinical evidence items and 0 assertions across 31 variants, naming Nivolumab and Oxaliplatin. Open Targets scores its association with cancer at 0.92 (direct and indirect evidence; datatypes genetic literature 0.92, affected pathway 0.61, literature 0.99, genetic association 0.94, somatic mutation 0.97, animal model 0.61). In OnCo, 1 product record names it (VENTANA MMR RxDx Panel).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7127","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7127"},{"label":"UniProt P40692","url":"https://www.uniprot.org/uniprotkb/P40692/entry"},{"label":"NCBI Gene 4292","url":"https://www.ncbi.nlm.nih.gov/gene/4292"},{"label":"Ensembl ENSG00000076242","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000076242"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","ovarian","endometrial","breast-cancer","gastric","skin-cancer","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":["ventana-mmr-rxdx"],"companies":[],"institutions":[],"pathways":["colorectal-cancer-signalling","endometrial-cancer-signalling","mismatch-repair-msi","epigenetic-reprogramming"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 29 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Lynch Syndrome; Villous Adenoma.","Colorectal cancer: MLH1 is the gene behind most mismatch repair deficiency, and in sporadic cases it is silenced rather than mutated. Promoter hypermethylation accounts for the majority of sporadic microsatellite-unstable cancers and is reversible in cell lines (Herman 1998), and it travels with the CIMP phenotype and BRAF V600E (odds ratio 203; Weisenberger 2006). An MLH1-deficient tumour is therefore tested for BRAF V600E or MLH1 methylation before a family is investigated for Lynch syndrome."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MLH1","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7127","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7127","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P40692","url":"https://www.uniprot.org/uniprotkb/P40692/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MLH1","url":"https://civicdb.org/features/3532","note":"29 evidence items, 0 assertions, 31 variants; diseases: Colorectal Cancer, Endometrial Cancer, Stomach Carcinoma, Cancer, Lynch Syndrome and 1 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000076242","url":"https://platform.opentargets.org/target/ENSG00000076242/associations","note":"association with cancer (MONDO_0004992) 0.92; per-cancer scores at or above 0.5: colorectal cancer 0.91, gastric cancer 0.63, ovarian cancer 0.72, endometrial cancer 0.69, skin cancer 0.55, breast cancer 0.67 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Lynch syndrome 2 (LYNCH2) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA MLH1: RNA low tissue specificity; high antibody staining in 32 normal tissues; highest cancer staining cervical cancer (7 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Ovarian cancer, Endometrial cancer, Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 19 specific cancer types at or above 0.5 (Lynch syndrome, colorectal cancer, mismatch repair cancer syndrome 1, Muir-Torre syndrome, colon carcinoma, mismatch repair cancer syndrome and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P40692","url":"https://www.uniprot.org/uniprotkb/P40692/entry","note":"involvement in disease"},{"label":"Human Protein Atlas MLH1 tissue","url":"https://www.proteinatlas.org/ENSG00000076242-MLH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000076242 associations","url":"https://platform.opentargets.org/target/ENSG00000076242/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7127","ensembl":"ENSG00000076242","uniprot":"P40692","entrez":"4292","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bronner C.E. et al, Nature, 1994, \"Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8145827/","biology":"Heterodimerises with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Location: Nucleus; Chromosome (UniProt). Locus 3p22.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.91 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.72 with ovarian cancer (MONDO_0008170)","Endometrial cancer: Open Targets association 0.69 with endometrial cancer (MONDO_0011962); CIViC evidence names this disease","Breast cancer: Open Targets association 0.67 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.63 with gastric cancer (MONDO_0001056); CIViC evidence names this disease","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)"],"targetClass":"other","prevalence":[]},{"id":"mlh3","kind":"target","name":"MLH3","aka":["mutL homolog 3","DNA mismatch repair protein Mlh3"],"tldr":"MLH3 (DNA mismatch repair protein Mlh3) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Colorectal cancer and Endometrial cancer.","summary":"Probably involved in the repair of mismatches in DNA.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.73, genetic association 0.91, somatic mutation 0.55, genetic literature 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7128","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7128"},{"label":"UniProt Q9UHC1","url":"https://www.uniprot.org/uniprotkb/Q9UHC1/entry"},{"label":"NCBI Gene 27030","url":"https://www.ncbi.nlm.nih.gov/gene/27030"},{"label":"Ensembl ENSG00000119684","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119684"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MLH3","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7128","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7128","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UHC1","url":"https://www.uniprot.org/uniprotkb/Q9UHC1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000119684","url":"https://platform.opentargets.org/target/ENSG00000119684/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.68, endometrial cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7128","ensembl":"ENSG00000119684","uniprot":"Q9UHC1","entrez":"27030","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sherrington et al, Nature, 1995, \"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7596406/","biology":"Probably involved in the repair of mismatches in DNA. Location: Nucleus (UniProt). Locus 14q24.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.68 with colorectal cancer (MONDO_0005575)","Endometrial cancer: Open Targets association 0.53 with endometrial cancer (MONDO_0011962)"],"targetClass":"other","prevalence":[]},{"id":"mllt1","kind":"target","name":"MLLT1","aka":["MLLT1 super elongation complex subunit","LTG19","YEATS1"],"tldr":"MLLT1 (MLLT1 super elongation complex subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Non-Hodgkin lymphoma, Wilms tumour and 1 more.","summary":"Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Specifically recognises and binds acetylated and crotonylated histones, with a preference for histones that are crotonylated. Has a slightly higher affinity for binding histone H3 crotonylated at 'Lys-27' (H3K27cr) than 'Lys-20' (H3K9cr20).\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.14, somatic mutation 0.71). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Wilms' Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7134","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7134"},{"label":"UniProt Q03111","url":"https://www.uniprot.org/uniprotkb/Q03111/entry"},{"label":"NCBI Gene 4298","url":"https://www.ncbi.nlm.nih.gov/gene/4298"},{"label":"Ensembl ENSG00000130382","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130382"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","wilms-tumor","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MLLT1","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7134","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7134","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q03111","url":"https://www.uniprot.org/uniprotkb/Q03111/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000130382","url":"https://platform.opentargets.org/target/ENSG00000130382/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.53, non-Hodgkin lymphoma 0.54, leukaemia 0.56 (GraphQL API, CC0)"},{"label":"IntOGen MLLT1","url":"https://www.intogen.org/search?gene=MLLT1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7134","ensembl":"ENSG00000130382","uniprot":"Q03111","entrez":"4298","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tkachuk D.C. et al, Cell, 1992, \"Involvement of a homolog of Drosophila trithorax by 11q23 chromosomal translocations in acute leukemias\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1423624/","biology":"Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Specifically recognises and binds acetylated and crotonylated histones, with a preference for histones that are crotonylated. Has a slightly higher affinity for binding histone H3 crotonylated at 'Lys-27' (H3K27cr) than 'Lys-20' (H3K9cr20). May play a role in leukemogenic gene transcription. Acts as a key chromatin reader in acute myeloid leukaemia by recognising and binding to acetylated histones via its YEATS domain, thereby regulating oncogenic gene transcription. Location: Nucleus (UniProt). Locus 19p13.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.56 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.54 with non-Hodgkin lymphoma (MONDO_0018908)","Wilms tumour: IntOGen driver in 1 cohort (WT)","Acute lymphoblastic leukaemia: Open Targets association 0.53 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"oncogene","prevalence":[]},{"id":"mllt10","kind":"target","name":"MLLT10","aka":["MLLT10 histone lysine methyltransferase DOT1L cofactor","AF10"],"tldr":"MLLT10 (MLLT10 histone lysine methyltransferase DOT1L cofactor) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Breast cancer, Ovarian cancer, Leukaemia and 2 more.","summary":"Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.87, animal model 0.47, genetic association 0.69, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16063","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16063"},{"label":"UniProt P55197","url":"https://www.uniprot.org/uniprotkb/P55197/entry"},{"label":"NCBI Gene 8028","url":"https://www.ncbi.nlm.nih.gov/gene/8028"},{"label":"Ensembl ENSG00000078403","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000078403"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","ovarian","leukaemia","non-hodgkin-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MLLT10","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16063","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16063","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55197","url":"https://www.uniprot.org/uniprotkb/P55197/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000078403","url":"https://platform.opentargets.org/target/ENSG00000078403/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: ovarian cancer 0.57, acute lymphoblastic leukaemia 0.51, non-Hodgkin lymphoma 0.53, breast cancer 0.64, leukaemia 0.57 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16063","ensembl":"ENSG00000078403","uniprot":"P55197","entrez":"8028","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chaplin et al, Blood, 1995, \"A novel class of zinc finger/leucine zipper genes identified from the molecular cloning of the t(10;11) translocation in acute leukemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7888665/","biology":"Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation. Location: Nucleus (UniProt). Locus 10p12.31 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.64 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.57 with ovarian cancer (MONDO_0008170)","Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.53 with non-Hodgkin lymphoma (MONDO_0018908)","Acute lymphoblastic leukaemia: Open Targets association 0.51 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"transcription","prevalence":[]},{"id":"mllt3","kind":"target","name":"MLLT3","aka":["MLLT3 super elongation complex subunit","AF-9","AF9","YEATS3"],"tldr":"MLLT3 (MLLT3 super elongation complex subunit) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Non-Hodgkin lymphoma and Melanoma.","summary":"Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Specifically recognises and binds acylated histone H3, with a preference for histone H3 that is crotonylated. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.98, animal model 0.38, genetic association 0.46, somatic mutation 0.65). IntOGen calls it a driver in 1 cohort (0 activating, 0 loss-of-function), covering Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7136","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7136"},{"label":"UniProt P42568","url":"https://www.uniprot.org/uniprotkb/P42568/entry"},{"label":"NCBI Gene 4300","url":"https://www.ncbi.nlm.nih.gov/gene/4300"},{"label":"Ensembl ENSG00000171843","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171843"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MLLT3","role":["fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7136","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7136","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42568","url":"https://www.uniprot.org/uniprotkb/P42568/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171843","url":"https://platform.opentargets.org/target/ENSG00000171843/associations","note":"association with cancer (MONDO_0004992) 0.50; per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.52, leukaemia 0.52 (GraphQL API, CC0)"},{"label":"IntOGen MLLT3","url":"https://www.intogen.org/search?gene=MLLT3","note":"driver in 1 cohort (Act 0, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7136","ensembl":"ENSG00000171843","uniprot":"P42568","entrez":"4300","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nakamura et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8506309/","biology":"Chromatin reader component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Specifically recognises and binds acylated histone H3, with a preference for histone H3 that is crotonylated. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. Recognises and binds histone H3 crotonylated at 'Lys-9' (H3K9cr), and with slightly lower affinity histone H3 crotonylated at 'Lys-18' (H3K18cr). Also recognises and binds histone H3 acetylated and butyrylated at 'Lys-9' (H3K9ac and H3K9bu, respectively), but with lower affinity than crotonylated histone H3. In the SEC complex, MLLT3 is required to recruit the complex to crotonylated histones. Location: Nucleus; Chromosome (UniProt). Locus 9p21.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.52 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)","Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"transcription","prevalence":[]},{"id":"mllt6","kind":"target","name":"MLLT6","aka":["MLLT6, PHD finger containing","AF17","FLJ23480"],"tldr":"MLLT6 (MLLT6, PHD finger containing) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pheochromocytoma and paraganglioma and Bladder & urothelial cancer.","summary":"Involved in the stimulation of renal sodium reabsorption mediated by the epithelial sodium channel (ENaC). Up-regulates ENaC expression in renal collecting duct cells by promoting DOT1L export from the nucleus to the cytoplasm, thus limiting DOT1L-mediated H3K79 methylation and transcriptional repression at the SCNN1A promoter.\n\nIntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Paraganglioma, Upper Tract Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7138","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7138"},{"label":"UniProt P55198","url":"https://www.uniprot.org/uniprotkb/P55198/entry"},{"label":"NCBI Gene 4302","url":"https://www.ncbi.nlm.nih.gov/gene/4302"},{"label":"Ensembl ENSG00000275023","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000275023"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pheochromocytoma-paraganglioma","urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MLLT6","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7138","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7138","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55198","url":"https://www.uniprot.org/uniprotkb/P55198/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MLLT6","url":"https://www.intogen.org/search?gene=MLLT6","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7138","ensembl":"ENSG00000275023","uniprot":"P55198","entrez":"4302","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Prasad et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8058765/","biology":"Involved in the stimulation of renal sodium reabsorption mediated by the epithelial sodium channel (ENaC). Up-regulates ENaC expression in renal collecting duct cells by promoting DOT1L export from the nucleus to the cytoplasm, thus limiting DOT1L-mediated H3K79 methylation and transcriptional repression at the SCNN1A promoter. Location: Nucleus; Cytoplasm (UniProt). Locus 17q12 (HGNC).","whereFound":["Pheochromocytoma and paraganglioma: IntOGen driver in 1 cohort (PGNG)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"mlph","kind":"target","name":"MLPH","aka":["melanophilin","Melanophilin","l1Rk3","l(1)-3Rk","Slac-2a","ln","exophilin-3","SLAC2-A"],"tldr":"MLPH (Melanophilin) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.80, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29643","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29643"},{"label":"UniProt Q9BV36","url":"https://www.uniprot.org/uniprotkb/Q9BV36/entry"},{"label":"NCBI Gene 79083","url":"https://www.ncbi.nlm.nih.gov/gene/79083"},{"label":"Ensembl ENSG00000115648","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115648"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MLPH","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:29643","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29643","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BV36","url":"https://www.uniprot.org/uniprotkb/Q9BV36/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000115648","url":"https://platform.opentargets.org/target/ENSG00000115648/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:29643","ensembl":"ENSG00000115648","uniprot":"Q9BV36","entrez":"79083","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. Location: Cytoplasm (UniProt). Locus 2q37.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"mmp1","kind":"target","name":"MMP1","aka":["matrix metallopeptidase 1","Interstitial collagenase"],"tldr":"MMP1 (Interstitial collagenase) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to HR-positive / HER2-negative breast cancer.","summary":"Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X. In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat's mediated neurotoxicity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Sacituzumab Govitecan.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7155","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7155"},{"label":"UniProt P03956","url":"https://www.uniprot.org/uniprotkb/P03956/entry"},{"label":"NCBI Gene 4312","url":"https://www.ncbi.nlm.nih.gov/gene/4312"},{"label":"Ensembl ENSG00000196611","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196611"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-hr-positive"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MMP1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7155","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7155","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P03956","url":"https://www.uniprot.org/uniprotkb/P03956/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MMP1","url":"https://civicdb.org/features/3548","note":"1 evidence items, 0 assertions, 1 variants; diseases: Oestrogen Receptor-positive Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MMP1: RNA tissue enhanced (gallbladder 71 nTPM, stomach 1 44 nTPM, urinary bladder 49 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MMP1 tissue","url":"https://www.proteinatlas.org/ENSG00000196611-MMP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000196611 associations","url":"https://platform.opentargets.org/target/ENSG00000196611/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7155","ensembl":"ENSG00000196611","uniprot":"P03956","entrez":"4312","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Whitham S.E. et al, Biochem. J, 1986, \"Comparison of human stromelysin and collagenase by cloning and sequence analysis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3030290/","biology":"Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X. In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat's mediated neurotoxicity. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 11q22.2 (HGNC).","whereFound":["HR-positive / HER2-negative breast cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"mmp2","kind":"target","name":"MMP2","aka":["matrix metallopeptidase 2","72 kDa type IV collagenase","MMP-2","TBE-1","CLG4","CLG4A"],"tldr":"MMP2 (72 kDa type IV collagenase) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumour invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Bevacizumab. Open Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 1.00, animal model 0.79, genetic association 0.56, clinical 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7166","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7166"},{"label":"UniProt P08253","url":"https://www.uniprot.org/uniprotkb/P08253/entry"},{"label":"NCBI Gene 4313","url":"https://www.ncbi.nlm.nih.gov/gene/4313"},{"label":"Ensembl ENSG00000087245","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000087245"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["invasion-ecm-degradation"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.66; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Brain Glioma; Inflammatory Breast Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MMP2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7166","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7166","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08253","url":"https://www.uniprot.org/uniprotkb/P08253/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MMP2","url":"https://civicdb.org/features/3549","note":"2 evidence items, 0 assertions, 1 variants; diseases: Brain Glioma, Inflammatory Breast Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000087245","url":"https://platform.opentargets.org/target/ENSG00000087245/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MMP2: RNA tissue enhanced (gallbladder 994 nTPM); high antibody staining in 3 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MMP2 tissue","url":"https://www.proteinatlas.org/ENSG00000087245-MMP2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000087245 associations","url":"https://platform.opentargets.org/target/ENSG00000087245/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7166","ensembl":"ENSG00000087245","uniprot":"P08253","entrez":"4313","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Collier I.E. et al, J. Biol. Chem, 1988, \"H-ras oncogene-transformed human bronchial epithelial cells (TBE-1) secrete a single metalloprotease capable of degrading basement membrane collagen\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2834383/","biology":"Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumour invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly-|-Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. Location: Secreted, extracellular space, extracellular matrix; Membrane; Nucleus; Cytoplasm (UniProt). Locus 16q12.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"mmp7","kind":"target","name":"MMP7","aka":["matrix metallopeptidase 7","Matrilysin","PUMP-1","MPSL1"],"tldr":"MMP7 (Matrilysin) is an enzyme. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.99, animal model 0.26, genetic association 0.61, clinical 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7174","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7174"},{"label":"UniProt P09237","url":"https://www.uniprot.org/uniprotkb/P09237/entry"},{"label":"NCBI Gene 4316","url":"https://www.ncbi.nlm.nih.gov/gene/4316"},{"label":"Ensembl ENSG00000137673","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137673"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.65. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MMP7","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7174","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7174","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09237","url":"https://www.uniprot.org/uniprotkb/P09237/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137673","url":"https://platform.opentargets.org/target/ENSG00000137673/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MMP7: RNA tissue enhanced (gallbladder 479 nTPM, salivary gland 253 nTPM, urinary bladder 197 nTPM); no normal tissue stained high; highest cancer staining endometrial cancer (2 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (prostate carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MMP7 tissue","url":"https://www.proteinatlas.org/ENSG00000137673-MMP7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137673 associations","url":"https://platform.opentargets.org/target/ENSG00000137673/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7174","ensembl":"ENSG00000137673","uniprot":"P09237","entrez":"4316","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Muller et al, Biochem. J, 1988, \"The collagenase gene family in humans consists of at least four members\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2844164/","biology":"Degrades casein, gelatins of types I, III, IV, and V, and fibronectin. Activates procollagenase. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 11q22.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"mmp9","kind":"target","name":"MMP9","aka":["matrix metallopeptidase 9","Matrix metalloproteinase-9","CLG4B"],"tldr":"MMP9 (Matrix metalloproteinase-9) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Matrix metalloproteinase that plays an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Bevacizumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7176","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7176"},{"label":"UniProt P14780","url":"https://www.uniprot.org/uniprotkb/P14780/entry"},{"label":"NCBI Gene 4318","url":"https://www.ncbi.nlm.nih.gov/gene/4318"},{"label":"Ensembl ENSG00000100985","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100985"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["pre-metastatic-niche"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Inflammatory Breast Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MMP9","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7176","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7176","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14780","url":"https://www.uniprot.org/uniprotkb/P14780/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MMP9","url":"https://civicdb.org/features/3553","note":"1 evidence items, 0 assertions, 1 variants; diseases: Inflammatory Breast Carcinoma (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MMP9: RNA group enriched (bone marrow 356 nTPM, lymphoid tissue 103 nTPM); blood lineage lineage enriched (granulocytes 273 nTPM); high antibody staining in 3 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MMP9 tissue","url":"https://www.proteinatlas.org/ENSG00000100985-MMP9/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100985 associations","url":"https://platform.opentargets.org/target/ENSG00000100985/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7176","ensembl":"ENSG00000100985","uniprot":"P14780","entrez":"4318","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wilhelm S.M. et al, J. Biol. Chem, 1989, \"SV40-transformed human lung fibroblasts secrete a 92-kDa type IV collagenase which is identical to that secreted by normal human macrophages\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2551898/","biology":"Matrix metalloproteinase that plays an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves NINJ1 to generate the Secreted ninjurin-1 form. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 20q13.12 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"mn1","kind":"target","name":"MN1","aka":["MN1 proto-oncogene, transcriptional regulator","Transcriptional activator MN1","MGCR1-PEN","MGCR1"],"tldr":"MN1 (Transcriptional activator MN1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Colorectal cancer, Skin cancer and 1 more.","summary":"Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL.\n\nCIViC holds 3 clinical evidence items and 2 assertions across 1 variant. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.95, animal model 0.45, genetic association 0.52, somatic mutation 0.82).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7180","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7180"},{"label":"UniProt Q10571","url":"https://www.uniprot.org/uniprotkb/Q10571/entry"},{"label":"NCBI Gene 4330","url":"https://www.ncbi.nlm.nih.gov/gene/4330"},{"label":"Ensembl ENSG00000169184","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169184"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","colorectal","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 3 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Astroblastoma, MN1-altered."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MN1","role":["biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7180","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7180","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q10571","url":"https://www.uniprot.org/uniprotkb/Q10571/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MN1","url":"https://civicdb.org/features/3564","note":"3 evidence items, 2 assertions, 1 variants; diseases: Astroblastoma, MN1-altered (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000169184","url":"https://platform.opentargets.org/target/ENSG00000169184/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: colorectal cancer 0.52, melanoma 0.51, skin cancer 0.51, breast cancer 0.60 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MN1: RNA tissue enhanced (blood vessel 22 nTPM, skeletal muscle 47 nTPM); high antibody staining in 27 normal tissues; highest cancer staining skin cancer (8 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Colorectal cancer, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q10571","url":"https://www.uniprot.org/uniprotkb/Q10571/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MN1","url":"https://civicdb.org/features/3564","note":"3 evidence items, 2 assertions, 1 variants; diseases: Astroblastoma, MN1-altered (GraphQL API, CC0)"},{"label":"Human Protein Atlas MN1 tissue","url":"https://www.proteinatlas.org/ENSG00000169184-MN1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169184 associations","url":"https://platform.opentargets.org/target/ENSG00000169184/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7180","ensembl":"ENSG00000169184","uniprot":"Q10571","entrez":"4330","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deprez R.H.L. et al, Oncogene, 1995, \"Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7731706/","biology":"Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull. May play a role in tumour suppression. Location: Nucleus (UniProt). Locus 22q12.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.60 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"mov10","kind":"target","name":"MOV10","aka":["Mov10 RNA helicase","RNA helicase MOV-10","gb110","MGC2948","fSAP113"],"tldr":"MOV10 (RNA helicase MOV-10) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"5'-3' RNA helicase. Involved in a number of cellular roles ranging from mRNA metabolism and translation, modulation of viral infectivity, inhibition of retrotransposition, or regulation of synaptic transmission. Plays an important role in innate antiviral immunity by promoting type I interferon production.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.27, affected pathway 0.76, animal model 0.29, genetic association 0.32).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7200","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7200"},{"label":"UniProt Q9HCE1","url":"https://www.uniprot.org/uniprotkb/Q9HCE1/entry"},{"label":"NCBI Gene 4343","url":"https://www.ncbi.nlm.nih.gov/gene/4343"},{"label":"Ensembl ENSG00000155363","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000155363"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MOV10","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7200","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7200","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HCE1","url":"https://www.uniprot.org/uniprotkb/Q9HCE1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000155363","url":"https://platform.opentargets.org/target/ENSG00000155363/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7200","ensembl":"ENSG00000155363","uniprot":"Q9HCE1","entrez":"4343","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10997877/","biology":"5'-3' RNA helicase. Involved in a number of cellular roles ranging from mRNA metabolism and translation, modulation of viral infectivity, inhibition of retrotransposition, or regulation of synaptic transmission. Plays an important role in innate antiviral immunity by promoting type I interferon production. Mechanistically, specifically uses IKKepsilon/IKBKE as the mediator kinase for IRF3 activation. Blocks HIV-1 virus replication at a post-entry step. Counteracts HIV-1 Vif-mediated degradation of APOBEC3G through its helicase activity by interfering with the ubiquitin-proteasome pathway. Location: Cytoplasm, P-body; Cytoplasm, Cytoplasmic ribonucleoprotein granule; Cytoplasm, Stress granule; Nucleus (UniProt). Locus 1p13.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"mpeg1","kind":"target","name":"MPEG1","aka":["macrophage expressed 1","Macrophage-expressed gene 1 protein","P2","MPS-1","MPG1"],"tldr":"MPEG1 (Macrophage-expressed gene 1 protein) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Pore-forming protein involved in both innate and adaptive immunity. Plays a central role in antigen cross-presentation in dendritic cells by forming a pore in antigen-containing compartments, thereby promoting delivery of antigens for cross-presentation. Also involved in innate immune response following bacterial infection; shows antibacterial activity against a wide spectrum of Gram-positive, Gram-negative and acid-fast bacteria.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29619","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29619"},{"label":"UniProt Q2M385","url":"https://www.uniprot.org/uniprotkb/Q2M385/entry"},{"label":"NCBI Gene 219972","url":"https://www.ncbi.nlm.nih.gov/gene/219972"},{"label":"Ensembl ENSG00000197629","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197629"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MPEG1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29619","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29619","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q2M385","url":"https://www.uniprot.org/uniprotkb/Q2M385/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MPEG1","url":"https://civicdb.org/features/20168","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MPEG1: RNA tissue enhanced (lymphoid tissue 194 nTPM); blood lineage group enriched (dendritic cells 205 nTPM, monocytes 289 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MPEG1 tissue","url":"https://www.proteinatlas.org/ENSG00000197629-MPEG1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197629 associations","url":"https://platform.opentargets.org/target/ENSG00000197629/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29619","ensembl":"ENSG00000197629","uniprot":"Q2M385","entrez":"219972","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Pore-forming protein involved in both innate and adaptive immunity. Plays a central role in antigen cross-presentation in dendritic cells by forming a pore in antigen-containing compartments, thereby promoting delivery of antigens for cross-presentation. Also involved in innate immune response following bacterial infection; shows antibacterial activity against a wide spectrum of Gram-positive, Gram-negative and acid-fast bacteria. Reduces the viability of the intracytosolic pathogen L.monocytogenes by inhibiting acidification of the phagocytic vacuole of host cells which restricts bacterial translocation from the vacuole to the cytosol. Required for the antibacterial activity of reactive oxygen species and nitric oxide. Pore-forming protein that plays a central role in antigen cross-presentation in dendritic cells by mediating delivery of antigens for cross-presentation. Location: Cytoplasmic vesicle membrane; Cytoplasmic vesicle, phagosome membrane; Secreted (UniProt). Locus 11q12.1 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"mpl","kind":"target","name":"MPL (thrombopoietin receptor)","aka":["TPO receptor","TPOR","THPOR","CD110","MPL proto-oncogene, thrombopoietin receptor"],"tldr":"MPL is the receptor that tells the bone marrow to make platelets. Romiplostim and eltrombopag switch it on to raise platelet counts; in some myeloproliferative neoplasms a mutant partner protein, calreticulin, grips it and keeps it on.","summary":"MPL (chromosome 1p34.2) is the thrombopoietin receptor that regulates haematopoietic stem cell renewal, megakaryocyte differentiation and platelet formation; thrombopoietin binding triggers rapid JAK2 phosphorylation and docking of STAT5, SHIP, GRB2, SOS1 and PI3K, and the cascades that follow drive megakaryocyte proliferation, survival and differentiation (UniProt P40238). In OnCo it is the receptor that the TPO agonists romiplostim (a peptide fused to an antibody Fc fragment) and eltrombopag (a small molecule binding the transmembrane region) activate; the receptor that frameshift-mutant calreticulin binds and activates in CALR-mutant essential thrombocythaemia and primary myelofibrosis, which the antibody INCA033989 blocks; and one of the three drivers (JAK2, CALR, MPL) that ruxolitinib acts regardless of.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:7217","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7217"},{"label":"UniProt P40238","url":"https://www.uniprot.org/uniprotkb/P40238/entry"},{"label":"NCBI Gene 4352","url":"https://www.ncbi.nlm.nih.gov/gene/4352"}],"tags":["wave5-target"],"related":["inca033989","ruxolitinib","jak2"],"cancers":["myeloproliferative-neoplasms","essential-thrombocythaemia","aml","mds"],"sections":[],"technologies":["transfusion-support"],"targets":[],"drugs":["romiplostim","eltrombopag"],"companies":[],"institutions":[],"pathways":["jak-stat"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"MPL","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 1 antibody (Romiplostim) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA MPL: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 1 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia); Open Targets associates it with 2 specific cancer types at or above 0.5 (primary myelofibrosis, essential thrombocythemia). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MPL tissue","url":"https://www.proteinatlas.org/ENSG00000117400-MPL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MPL pathology","url":"https://www.proteinatlas.org/ENSG00000117400-MPL/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000117400 associations","url":"https://platform.opentargets.org/target/ENSG00000117400/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7217","ensembl":"ENSG00000117400","uniprot":"P40238","entrez":"4352","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vigon et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Molecular cloning and characterization of MPL, the human homolog of the v-mpl oncogene: identification of a member of the hematopoietic growth factor receptor superfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1608974/","biology":"MPL has no kinase of its own and signals through JAK2, so JAK inhibitors act below it whatever the driver. The INCA033989 record explains that CALR frameshift mutations give the protein a positively charged tail that lets it bind and activate MPL on the cell surface, switching on JAK-STAT signalling without thrombopoietin.","whereFound":["Megakaryocytes and haematopoietic stem cells","Essential thrombocythaemia and primary myelofibrosis (MPL as driver; CALR-mutant activation)","Thrombocytopenia in AML and MDS (TPO agonist use in the corpus records)"],"targetClass":"surface-antigen","prevalence":[]},{"id":"mprip","kind":"target","name":"MPRIP","aka":["myosin phosphatase Rho interacting protein","Myosin phosphatase Rho-interacting protein","RHOIP3","M-RIP","p116Rip"],"tldr":"MPRIP (Myosin phosphatase Rho-interacting protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer and Renal cell carcinoma.","summary":"Targets myosin phosphatase to the actin cytoskeleton. Required for the regulation of the actin cytoskeleton by RhoA and ROCK1. Depletion leads to an increased number of stress fibres in smooth muscle cells through stabilisation of actin fibres by phosphorylated myosin.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.24, affected pathway 0.89, genetic association 0.78, somatic mutation 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30321","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30321"},{"label":"UniProt Q6WCQ1","url":"https://www.uniprot.org/uniprotkb/Q6WCQ1/entry"},{"label":"NCBI Gene 23164","url":"https://www.ncbi.nlm.nih.gov/gene/23164"},{"label":"Ensembl ENSG00000133030","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000133030"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MPRIP","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:30321","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30321","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6WCQ1","url":"https://www.uniprot.org/uniprotkb/Q6WCQ1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000133030","url":"https://platform.opentargets.org/target/ENSG00000133030/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.64, renal cell carcinoma 0.62 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:30321","ensembl":"ENSG00000133030","uniprot":"Q6WCQ1","entrez":"23164","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Inazawa et al, 2002, \"Cloning of human orthologue RHOIP3 of Mus Rhoip3\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q6WCQ1/entry","biology":"Targets myosin phosphatase to the actin cytoskeleton. Required for the regulation of the actin cytoskeleton by RhoA and ROCK1. Depletion leads to an increased number of stress fibres in smooth muscle cells through stabilisation of actin fibres by phosphorylated myosin. Overexpression of MRIP as well as its F-actin-binding region leads to disassembly of stress fibres in neuronal cells. Location: Cytoplasm, cytoskeleton (UniProt). Locus 17p11.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.64 with colorectal cancer (MONDO_0005575)","Renal cell carcinoma: Open Targets association 0.62 with renal cell carcinoma (MONDO_0005086)"],"targetClass":"other","prevalence":[]},{"id":"ttk","kind":"target","name":"MPS1 (TTK)","aka":["MPS1","Mps1","TTK protein kinase","PYT","CT96"],"tldr":"MPS1 arms the checkpoint that holds a dividing cell until its chromosomes are attached. Blocking it lets cancer cells divide carelessly and die; one inhibitor is in phase 1/2 in breast cancer.","summary":"TTK (chromosome 6q14.1) encodes the dual-specificity kinase MPS1, which is involved in mitotic spindle assembly checkpoint signalling, delaying anaphase until chromosomes are bioriented, and in the repair of incorrect kinetochore-microtubule attachments; it phosphorylates MAD1L1 to promote the checkpoint and is present in rapidly proliferating cell lines (UniProt P33981). CFI-402257, a TTK inhibitor, is in phase 1/2 alone, with fulvestrant, and with paclitaxel in HER2-negative breast cancer (NCT05251714, NCT03568422).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:12401","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12401"},{"label":"UniProt P33981","url":"https://www.uniprot.org/uniprotkb/P33981/entry"},{"label":"NCBI Gene 7272","url":"https://www.ncbi.nlm.nih.gov/gene/7272"},{"label":"ClinicalTrials.gov NCT05251714","url":"https://clinicaltrials.gov/study/NCT05251714"}],"tags":["checkpoint-map"],"related":["bub1","aurkb","aurka"],"cancers":["breast-hr-positive"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["mitotic-spindle-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"TTK","role":[],"sources":[{"label":"HGNC HGNC:12401","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12401","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P33981","url":"https://www.uniprot.org/uniprotkb/P33981/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:12401","ensembl":"ENSG00000112742","uniprot":"P33981","entrez":"7272","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hanks S.K. et al, Methods Enzymol, 1991, \"Protein kinase catalytic domain sequence database: identification of conserved features of primary structure and classification of family members\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1956325/","biology":"The apex kinase of the spindle assembly checkpoint; inhibitors override the checkpoint rather than enforce it.","whereFound":["Rapidly proliferating cells (UniProt P33981)","Breast cancer trials of CFI-402257"],"targetClass":"kinase","prevalence":[]},{"id":"mre11","kind":"target","name":"MRE11","aka":["MRE11 double strand break repair nuclease","Double-strand break repair protein MRE11","MRE11A"],"tldr":"MRE11 (Double-strand break repair protein MRE11) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer, Endometrial cancer, Breast cancer and 1 more.","summary":"Core component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Olaparib and Talazoparib. Open Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.87, genetic association 0.87, genetic literature 0.01).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7230","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230"},{"label":"UniProt P49959","url":"https://www.uniprot.org/uniprotkb/P49959/entry"},{"label":"NCBI Gene 4361","url":"https://www.ncbi.nlm.nih.gov/gene/4361"},{"label":"Ensembl ENSG00000020922","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000020922"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["prostate","endometrial","breast-cancer","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MRE11","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7230","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49959","url":"https://www.uniprot.org/uniprotkb/P49959/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MRE11","url":"https://civicdb.org/features/3586","note":"2 evidence items, 0 assertions, 2 variants; diseases: Prostate Cancer, Endometrial Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000020922","url":"https://platform.opentargets.org/target/ENSG00000020922/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: ovarian cancer 0.53, breast cancer 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MRE11: RNA low tissue specificity; high antibody staining in 45 normal tissues; highest cancer staining breast cancer (12 of 12 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Endometrial cancer, Breast cancer (all types), Ovarian cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (hereditary neoplastic syndrome, hereditary breast ovarian cancer syndrome). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MRE11 tissue","url":"https://www.proteinatlas.org/ENSG00000020922-MRE11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000020922 associations","url":"https://platform.opentargets.org/target/ENSG00000020922/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7230","ensembl":"ENSG00000020922","uniprot":"P49959","entrez":"4361","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Petrini J.H.J. et al, Genomics, 1995, \"Isolation and characterization of the human MRE11 homologue\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8530104/","biology":"Core component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage. Within the MRN complex, MRE11 possesses both single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity. After DSBs, MRE11 is loaded onto DSBs sites and cleaves DNA by cooperating with RBBP8/CtIP to initiate end resection. MRE11 first endonucleolytically cleaves the 5' strand at DNA DSB ends to prevent non-homologous end joining (NHEJ) and licence HR. Location: Nucleus; Chromosome; Chromosome, telomere (UniProt). Locus 11q21 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease","Endometrial cancer: CIViC evidence names this disease","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.53 with ovarian cancer (MONDO_0008170)"],"targetClass":"enzyme","prevalence":[]},{"id":"mrtfa","kind":"target","name":"MRTFA","aka":["myocardin related transcription factor A","Myocardin-related transcription factor A","KIAA1438","MRTF-A","MKL1"],"tldr":"MRTFA (Myocardin-related transcription factor A) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Breast cancer, Skin cancer, Lung cancer and 1 more.","summary":"Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.52, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14334","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334"},{"label":"UniProt Q969V6","url":"https://www.uniprot.org/uniprotkb/Q969V6/entry"},{"label":"NCBI Gene 57591","url":"https://www.ncbi.nlm.nih.gov/gene/57591"},{"label":"Ensembl ENSG00000196588","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196588"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","skin-cancer","lung-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MRTFA","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:14334","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14334","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q969V6","url":"https://www.uniprot.org/uniprotkb/Q969V6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196588","url":"https://platform.opentargets.org/target/ENSG00000196588/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: melanoma 0.51, skin cancer 0.54, breast cancer 0.62, lung cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:14334","ensembl":"ENSG00000196588","uniprot":"Q969V6","entrez":"57591","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dunham et al, Nature, 1999, \"The DNA sequence of human chromosome 22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10591208/","biology":"Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration. The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F-actin) in the nucleus. Location: Cytoplasm; Nucleus (UniProt). Locus 22q13.1-q13.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.62 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"msh2","kind":"target","name":"MSH2","aka":["mutS homolog 2","DNA mismatch repair protein Msh2","HNPCC","HNPCC1","MSH-2","COCA1"],"tldr":"MSH2 (DNA mismatch repair protein Msh2) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Endometrial cancer, Ovarian cancer and 5 more.","summary":"Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs.\n\nCIViC holds 8 clinical evidence items and 0 assertions across 8 variants, naming Nivolumab, Durvalumab and Anti-PD-1 Monoclonal Antibody MEDI0680. Open Targets scores its association with cancer at 0.93 (direct and indirect evidence; datatypes genetic literature 0.91, affected pathway 0.76, literature 0.98, genetic association 0.96, somatic mutation 0.97, animal model 0.65). In OnCo, 1 product record names it (VENTANA MMR RxDx Panel).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7325","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7325"},{"label":"UniProt P43246","url":"https://www.uniprot.org/uniprotkb/P43246/entry"},{"label":"NCBI Gene 4436","url":"https://www.ncbi.nlm.nih.gov/gene/4436"},{"label":"Ensembl ENSG00000095002","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000095002"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","endometrial","ovarian","breast-cancer","gastric","skin-cancer","sarcoma","rectal-cancer","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["ventana-mmr-rxdx"],"companies":[],"institutions":[],"pathways":["colorectal-cancer-signalling","mismatch-repair-msi"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-pritchard-complex-msh2-msh6-hypermutated-prostate-nat-commun-2014","paper-guedes-msh2-loss-primary-prostate-ccr-2017"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 8 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Transitional Cell Carcinoma.","Colorectal cancer: MSH2 loss is almost always inherited rather than sporadic, so an MSH2-deficient tumour points straight at Lynch syndrome. Where sequencing of MSH2 is clean, the cause may be a deletion of the 3' exons of the neighbouring EPCAM gene, whose read-through transcription methylates the MSH2 promoter in cis (Ligtenberg 2009)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MSH2","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7325","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7325","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P43246","url":"https://www.uniprot.org/uniprotkb/P43246/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MSH2","url":"https://civicdb.org/features/3628","note":"8 evidence items, 0 assertions, 8 variants; diseases: Colorectal Cancer, Endometrial Cancer, Cancer, Transitional Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000095002","url":"https://platform.opentargets.org/target/ENSG00000095002/associations","note":"association with cancer (MONDO_0004992) 0.93; per-cancer scores at or above 0.5: colorectal cancer 0.92, gastric cancer 0.63, ovarian cancer 0.74, endometrial cancer 0.74, melanoma 0.52, sarcoma 0.53 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Lynch syndrome 1 (LYNCH1) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA MSH2: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining glioma (4 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Endometrial cancer, Ovarian cancer, Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Skin cancer (all types), Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 24 specific cancer types at or above 0.5 (Lynch syndrome, colorectal cancer, mismatch repair cancer syndrome, Muir-Torre syndrome, mismatch repair cancer syndrome 1, colon carcinoma and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P43246","url":"https://www.uniprot.org/uniprotkb/P43246/entry","note":"involvement in disease"},{"label":"Human Protein Atlas MSH2 tissue","url":"https://www.proteinatlas.org/ENSG00000095002-MSH2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000095002 associations","url":"https://platform.opentargets.org/target/ENSG00000095002/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7325","ensembl":"ENSG00000095002","uniprot":"P43246","entrez":"4436","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fishel et al, Cell, 1993, \"The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8252616/","biology":"Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognises single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognises larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Location: Nucleus; Chromosome (UniProt). Locus 2p21-p16.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.92 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Endometrial cancer: Open Targets association 0.74 with endometrial cancer (MONDO_0011962); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.74 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.67 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.63 with gastric cancer (MONDO_0001056)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Prostate cancer: msh2, msh6, mlh1 or pms2 inactivation, often by complex rearrangement 0.2-3% depending on disease state"],"targetClass":"other","prevalence":[{"cancerId":"prostate","pct":"0.2-3","measure":"MSH2, MSH6, MLH1 or PMS2 inactivation, often by complex rearrangement","source":"https://www.cbioportal.org/study/summary?id=prostate_msk_2024","note":"cBioPortal mutation in prostate_msk_2024: MSH2 26 of 2,260 (1.2%), MSH6 27 (1.2%), PMS2 17 (0.8%), MLH1 16 (0.7%); deep deletion adds MSH2 21, MSH6 15. In prad_su2c_2019: MSH2 6 of 444, MSH6 6, MLH1 3. MSH2 protein loss on immunohistochemistry was present in 14 of 1,176 primary adenocarcinomas and small-cell carcinomas, 1.2% (Guedes 2017)."}]},{"id":"msh3","kind":"target","name":"MSH3","aka":["mutS homolog 3","DNA mismatch repair protein Msh3","MRP1"],"tldr":"MSH3 (DNA mismatch repair protein Msh3) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer and Colorectal cancer.","summary":"Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerises with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming 7-Ethyl-10-Hydroxycamptothecin and Oxaliplatin. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes genetic literature 0.49, affected pathway 0.61, literature 0.93, genetic association 0.92, somatic mutation 0.58, animal model 0.45).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7326","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7326"},{"label":"UniProt P20585","url":"https://www.uniprot.org/uniprotkb/P20585/entry"},{"label":"NCBI Gene 4437","url":"https://www.ncbi.nlm.nih.gov/gene/4437"},{"label":"Ensembl ENSG00000113318","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113318"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["endometrial","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MSH3","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7326","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7326","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20585","url":"https://www.uniprot.org/uniprotkb/P20585/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MSH3","url":"https://civicdb.org/features/3629","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colon Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000113318","url":"https://platform.opentargets.org/target/ENSG00000113318/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: endometrial cancer 0.69 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"few-types","specificityNote":"Germline variant: UniProt lists Endometrial cancer (ENDMC) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA MSH3: RNA low tissue specificity; no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Endometrial cancer, Colorectal cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (familial adenomatous polyposis 4, endometrial carcinoma, hereditary neoplastic syndrome). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P20585","url":"https://www.uniprot.org/uniprotkb/P20585/entry","note":"involvement in disease"},{"label":"Human Protein Atlas MSH3 tissue","url":"https://www.proteinatlas.org/ENSG00000113318-MSH3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113318 associations","url":"https://platform.opentargets.org/target/ENSG00000113318/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7326","ensembl":"ENSG00000113318","uniprot":"P20585","entrez":"4437","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fujii et al, J. Biol. Chem, 1989, \"Isolation and characterization of cDNA clones derived from the divergently transcribed gene in the region upstream from the human dihydrofolate reductase gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2722860/","biology":"Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerises with MSH2 to form MutS beta which binds to DNA mismatches thereby initiating DNA repair. When bound, the MutS beta heterodimer bends the DNA helix and shields approximately 20 base pairs. MutS beta recognises large insertion-deletion loops (IDL) up to 13 nucleotides long. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Locus 5q14.1 (HGNC).","whereFound":["Endometrial cancer: Open Targets association 0.69 with endometrial cancer (MONDO_0011962)","Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"msh6","kind":"target","name":"MSH6","aka":["mutS homolog 6","DNA mismatch repair protein Msh6","MSH-6"],"tldr":"MSH6 (DNA mismatch repair protein Msh6) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Endometrial cancer, Ovarian cancer and 5 more.","summary":"Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerises with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognises single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 7 variants, naming Durvalumab and Anti-PD-1 Monoclonal Antibody MEDI0680. Open Targets scores its association with cancer at 0.93 (direct and indirect evidence; datatypes genetic literature 0.91, affected pathway 0.61, literature 0.97, genetic association 0.96, somatic mutation 0.96, animal model 0.42). In OnCo, 1 product record names it (VENTANA MMR RxDx Panel).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7329","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7329"},{"label":"UniProt P52701","url":"https://www.uniprot.org/uniprotkb/P52701/entry"},{"label":"NCBI Gene 2956","url":"https://www.ncbi.nlm.nih.gov/gene/2956"},{"label":"Ensembl ENSG00000116062","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116062"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","endometrial","ovarian","breast-cancer","gastric","prostate","skin-cancer","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":["ventana-mmr-rxdx"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 7 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Transitional Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MSH6","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7329","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7329","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P52701","url":"https://www.uniprot.org/uniprotkb/P52701/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MSH6","url":"https://civicdb.org/features/2478","note":"7 evidence items, 0 assertions, 7 variants; diseases: Colorectal Cancer, Endometrial Cancer, Transitional Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000116062","url":"https://platform.opentargets.org/target/ENSG00000116062/associations","note":"association with cancer (MONDO_0004992) 0.93; per-cancer scores at or above 0.5: colorectal cancer 0.92, gastric cancer 0.67, prostate cancer 0.60, ovarian cancer 0.76, endometrial cancer 0.87, sarcoma 0.52 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Lynch syndrome 5 (LYNCH5) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA MSH6: RNA low tissue specificity; high antibody staining in 35 normal tissues; highest cancer staining breast cancer (11 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Endometrial cancer, Ovarian cancer, Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Prostate cancer, Skin cancer (all types) and more); Open Targets associates it with 26 specific cancer types at or above 0.5 (Lynch syndrome, colorectal cancer, endometrial cancer, mismatch repair cancer syndrome, mismatch repair cancer syndrome 1, endometrial carcinoma and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P52701","url":"https://www.uniprot.org/uniprotkb/P52701/entry","note":"involvement in disease"},{"label":"Human Protein Atlas MSH6 tissue","url":"https://www.proteinatlas.org/ENSG00000116062-MSH6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116062 associations","url":"https://platform.opentargets.org/target/ENSG00000116062/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7329","ensembl":"ENSG00000116062","uniprot":"P52701","entrez":"2956","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Palombo et al, Science, 1995, \"GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7604265/","biology":"Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerises with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognises single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. Location: Nucleus; Chromosome (UniProt). Locus 2p16.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.92 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Endometrial cancer: Open Targets association 0.87 with endometrial cancer (MONDO_0011962); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.76 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.67 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.67 with gastric cancer (MONDO_0001056)","Prostate cancer: Open Targets association 0.60 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"msi2","kind":"target","name":"MSI2","aka":["musashi RNA binding protein 2","RNA-binding protein Musashi homolog 2"],"tldr":"MSI2 (RNA-binding protein Musashi homolog 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Skin cancer and Neuroblastoma.","summary":"RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.52, somatic mutation 0.98). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Neuroblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18585"},{"label":"UniProt Q96DH6","url":"https://www.uniprot.org/uniprotkb/Q96DH6/entry"},{"label":"NCBI Gene 124540","url":"https://www.ncbi.nlm.nih.gov/gene/124540"},{"label":"Ensembl ENSG00000153944","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153944"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MSI2","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18585","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96DH6","url":"https://www.uniprot.org/uniprotkb/Q96DH6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000153944","url":"https://platform.opentargets.org/target/ENSG00000153944/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: skin cancer 0.50, breast cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen MSI2","url":"https://www.intogen.org/search?gene=MSI2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18585","ensembl":"ENSG00000153944","uniprot":"Q96DH6","entrez":"124540","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system. Location: Cytoplasm (UniProt). Locus 17q22 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Neuroblastoma: IntOGen driver in 1 cohort (NBL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"msmb","kind":"target","name":"MSMB","aka":["microseminoprotein beta","Beta-microseminoprotein","PSP-94","PSP57","PSP94","PN44"],"tldr":"MSMB (Beta-microseminoprotein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"UniProt has no function text for P08118; HGNC names it \"microseminoprotein beta\".\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.93, animal model 0.30, genetic association 0.69, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7372","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7372"},{"label":"UniProt P08118","url":"https://www.uniprot.org/uniprotkb/P08118/entry"},{"label":"NCBI Gene 4477","url":"https://www.ncbi.nlm.nih.gov/gene/4477"},{"label":"Ensembl ENSG00000263639","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000263639"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MSMB","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7372","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7372","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08118","url":"https://www.uniprot.org/uniprotkb/P08118/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000263639","url":"https://platform.opentargets.org/target/ENSG00000263639/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: prostate cancer 0.63 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7372","ensembl":"ENSG00000263639","uniprot":"P08118","entrez":"4477","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Seidah N.G. et al, FEBS Lett, 1984, \"Complete amino acid sequence of human seminal plasma beta-inhibin. Prediction of post Gln-Arg cleavage as a maturation site\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6434350/","biology":"UniProt has no function text for P08118; HGNC names it \"microseminoprotein beta\". Location: Secreted (UniProt). Locus 10q11.22 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.63 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"msn","kind":"target","name":"MSN","aka":["moesin","Moesin"],"tldr":"MSN (Moesin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Oesophageal cancer, Renal cell carcinoma, Basal cell carcinoma and 3 more.","summary":"Ezrin-radixin-moesin (ERM) family protein that connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex. Tethers actin filaments by oscillating between a resting and an activated state providing transient interactions between moesin and the actin cytoskeleton. Once phosphorylated on its C-terminal threonine, moesin is activated leading to interaction with F-actin and cytoskeletal rearrangement.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes affected pathway 0.76, literature 0.98, genetic association 0.04, somatic mutation 0.47, animal model 0.62). IntOGen calls it a driver in 4 cohorts (1 activating, 2 loss-of-function), covering Basal Cell Carcinoma, Renal Clear Cell Carcinoma, Oesophageal Adenocarcinoma, Oesophageal Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7373","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7373"},{"label":"UniProt P26038","url":"https://www.uniprot.org/uniprotkb/P26038/entry"},{"label":"NCBI Gene 4478","url":"https://www.ncbi.nlm.nih.gov/gene/4478"},{"label":"Ensembl ENSG00000147065","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147065"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["esophageal","rcc","basal-cell-carcinoma","clear-cell-rcc","oesophageal-adenocarcinoma","oesophageal-squamous-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MSN","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7373","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7373","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P26038","url":"https://www.uniprot.org/uniprotkb/P26038/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147065","url":"https://platform.opentargets.org/target/ENSG00000147065/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"},{"label":"IntOGen MSN","url":"https://www.intogen.org/search?gene=MSN","note":"driver in 4 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7373","ensembl":"ENSG00000147065","uniprot":"P26038","entrez":"4478","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lankes W.T. et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Moesin: a member of the protein 4.1-talin-ezrin family of proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1924289/","biology":"Ezrin-radixin-moesin (ERM) family protein that connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex. Tethers actin filaments by oscillating between a resting and an activated state providing transient interactions between moesin and the actin cytoskeleton. Once phosphorylated on its C-terminal threonine, moesin is activated leading to interaction with F-actin and cytoskeletal rearrangement. These rearrangements regulate many cellular processes, including cell shape determination, membrane transport, and signal transduction. The role of moesin is particularly important in immunity acting on both T and B-cells homeostasis and self-tolerance, regulating lymphocyte egress from lymphoid organs. Modulates phagolysosomal biogenesis in macrophages. Location: Cell membrane; Cytoplasm, cytoskeleton; Apical cell membrane; Cell projection, microvillus membrane (UniProt). Locus Xq12 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 2 cohorts (ESCA, ESCC)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Basal cell carcinoma: IntOGen driver in 1 cohort (BCC)","Clear cell renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)","Oesophageal squamous cell carcinoma: IntOGen driver in 1 cohort (ESCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"msr1","kind":"target","name":"MSR1","aka":["macrophage scavenger receptor 1","Macrophage scavenger receptor types I and II","SCARA1","CD204","SR-AI","SR-AII","SR-AIII","SR-A"],"tldr":"MSR1 (Macrophage scavenger receptor types I and II) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Membrane receptor that mediates the binding, endocytosis and phagocytosis of a broad range of ligands. Recognises and internalises modified forms of low-density lipoproteins including acetylated LDL (AcLDL) and oxidised LDL (OxLDL), thereby promoting cholesterol uptake and contributing to foam cell formation during atherogenesis. Binds various pathogen-associated and damage-associated molecules, including bacterial cell wall components, apoptotic cell debris and polyanionic ligands, supporting macrophage clearance activity in innate immune defense.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.73, genetic literature 0.30).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7376","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7376"},{"label":"UniProt P21757","url":"https://www.uniprot.org/uniprotkb/P21757/entry"},{"label":"NCBI Gene 4481","url":"https://www.ncbi.nlm.nih.gov/gene/4481"},{"label":"Ensembl ENSG00000038945","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000038945"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MSR1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7376","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7376","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P21757","url":"https://www.uniprot.org/uniprotkb/P21757/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000038945","url":"https://platform.opentargets.org/target/ENSG00000038945/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7376","ensembl":"ENSG00000038945","uniprot":"P21757","entrez":"4481","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Matsumoto et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Human macrophage scavenger receptors: primary structure, expression, and localization in atherosclerotic lesions\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2251254/","biology":"Membrane receptor that mediates the binding, endocytosis and phagocytosis of a broad range of ligands. Recognises and internalises modified forms of low-density lipoproteins including acetylated LDL (AcLDL) and oxidised LDL (OxLDL), thereby promoting cholesterol uptake and contributing to foam cell formation during atherogenesis. Binds various pathogen-associated and damage-associated molecules, including bacterial cell wall components, apoptotic cell debris and polyanionic ligands, supporting macrophage clearance activity in innate immune defense. Upon stimulation by CpG DNA, mediates activation of LYN, which phosphorylates SYK that is subsequently recruited to endosomal TLR9 to promote downstream TLR9 signalling. Does not internalise acetylated LDL. Location: Cell membrane (UniProt). Locus 8p22 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"mt-co1","kind":"target","name":"MT-CO1","aka":["mitochondrially encoded cytochrome c oxidase I","Cytochrome c oxidase subunit 1","COX1","MTCO1"],"tldr":"MT-CO1 (Cytochrome c oxidase subunit 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Myelodysplastic syndromes / neoplasms and Colorectal cancer.","summary":"Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyses the reduction of oxygen to water.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.38, genetic association 0.74, genetic literature 0.30).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7419","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7419"},{"label":"UniProt P00395","url":"https://www.uniprot.org/uniprotkb/P00395/entry"},{"label":"NCBI Gene 4512","url":"https://www.ncbi.nlm.nih.gov/gene/4512"},{"label":"Ensembl ENSG00000198804","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198804"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["mds","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MT-CO1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7419","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7419","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P00395","url":"https://www.uniprot.org/uniprotkb/P00395/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198804","url":"https://platform.opentargets.org/target/ENSG00000198804/associations","note":"association with cancer (MONDO_0004992) 0.50; per-cancer scores at or above 0.5: colorectal cancer 0.50, myelodysplastic syndrome 0.64 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7419","ensembl":"ENSG00000198804","uniprot":"P00395","entrez":"4512","firstDescribed":1980,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sanger et al, J. Mol. Biol, 1980, \"Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6260957/","biology":"Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyses the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A centre (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear centre (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. Location: Mitochondrion inner membrane (UniProt). Locus mitochondria (HGNC).","whereFound":["Myelodysplastic syndromes / neoplasms: Open Targets association 0.64 with myelodysplastic syndrome (MONDO_0018881)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"mt-cyb","kind":"target","name":"MT-CYB","aka":["mitochondrially encoded cytochrome b","Cytochrome b","UQCR3","MTCYB"],"tldr":"MT-CYB (Cytochrome b) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.29, genetic association 0.84).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7427","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7427"},{"label":"UniProt P00156","url":"https://www.uniprot.org/uniprotkb/P00156/entry"},{"label":"NCBI Gene 4519","url":"https://www.ncbi.nlm.nih.gov/gene/4519"},{"label":"Ensembl ENSG00000198727","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198727"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MT-CYB","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7427","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7427","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P00156","url":"https://www.uniprot.org/uniprotkb/P00156/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198727","url":"https://platform.opentargets.org/target/ENSG00000198727/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7427","ensembl":"ENSG00000198727","uniprot":"P00156","entrez":"4519","firstDescribed":1981,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Anderson et al, Nature, 1981, \"Sequence and organization of the human mitochondrial genome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7219534/","biology":"Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis. Location: Mitochondrion inner membrane (UniProt). Locus mitochondria (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"mt-nd1","kind":"target","name":"MT-ND1","aka":["mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1","NADH-ubiquinone oxidoreductase chain 1","ND1","NAD1","MTND1"],"tldr":"MT-ND1 (NADH-ubiquinone oxidoreductase chain 1) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyses electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.80, genetic association 0.55, clinical 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7455","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7455"},{"label":"UniProt P03886","url":"https://www.uniprot.org/uniprotkb/P03886/entry"},{"label":"NCBI Gene 4535","url":"https://www.ncbi.nlm.nih.gov/gene/4535"},{"label":"Ensembl ENSG00000198888","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198888"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MT-ND1","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7455","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7455","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P03886","url":"https://www.uniprot.org/uniprotkb/P03886/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198888","url":"https://platform.opentargets.org/target/ENSG00000198888/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MT-ND1: RNA tissue enhanced (heart muscle 129,323 nTPM); blood lineage lineage enriched (granulocytes 9,528 nTPM); high antibody staining in 3 normal tissues; highest cancer staining melanoma (2 of 10 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MT-ND1 tissue","url":"https://www.proteinatlas.org/ENSG00000198888-MT-ND1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198888 associations","url":"https://platform.opentargets.org/target/ENSG00000198888/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7455","ensembl":"ENSG00000198888","uniprot":"P03886","entrez":"4535","firstDescribed":1980,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sanger et al, J. Mol. Biol, 1980, \"Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6260957/","biology":"Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyses electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I. Location: Mitochondrion inner membrane (UniProt). Locus mitochondria (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"mt-nd6","kind":"target","name":"MT-ND6","aka":["mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6","NADH-ubiquinone oxidoreductase chain 6","NAD6","ND6","MTND6"],"tldr":"MT-ND6 (NADH-ubiquinone oxidoreductase chain 6) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyses electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes clinical 0.67, literature 0.29, genetic association 0.63, somatic mutation 0.18, animal model 0.33).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7462","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7462"},{"label":"UniProt P03923","url":"https://www.uniprot.org/uniprotkb/P03923/entry"},{"label":"NCBI Gene 4541","url":"https://www.ncbi.nlm.nih.gov/gene/4541"},{"label":"Ensembl ENSG00000198695","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198695"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MT-ND6","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7462","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7462","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P03923","url":"https://www.uniprot.org/uniprotkb/P03923/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198695","url":"https://platform.opentargets.org/target/ENSG00000198695/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MT-ND6: RNA tissue enhanced (heart muscle 33,513 nTPM, skeletal muscle 54,271 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MT-ND6 tissue","url":"https://www.proteinatlas.org/ENSG00000198695-MT-ND6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198695 associations","url":"https://platform.opentargets.org/target/ENSG00000198695/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7462","ensembl":"ENSG00000198695","uniprot":"P03923","entrez":"4541","firstDescribed":1981,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Anderson et al, Nature, 1981, \"Sequence and organization of the human mitochondrial genome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7219534/","biology":"Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyses electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I. Location: Mitochondrion inner membrane (UniProt). Locus mitochondria (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"mtcp1","kind":"target","name":"MTCP1","aka":["mature T cell proliferation 1","Protein p13 MTCP-1","P13MTCP1","p8MTCP1","TCL1C"],"tldr":"MTCP1 (Protein p13 MTCP-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Enhances the phosphorylation and activation of AKT1 and AKT2.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.53, genetic association 0.00, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7423","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7423"},{"label":"UniProt P56278","url":"https://www.uniprot.org/uniprotkb/P56278/entry"},{"label":"NCBI Gene 4515","url":"https://www.ncbi.nlm.nih.gov/gene/4515"},{"label":"Ensembl ENSG00000214827","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000214827"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MTCP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7423","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7423","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P56278","url":"https://www.uniprot.org/uniprotkb/P56278/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000214827","url":"https://platform.opentargets.org/target/ENSG00000214827/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: breast cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7423","ensembl":"ENSG00000214827","uniprot":"P56278","entrez":"4515","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stern M.-H. et al, Oncogene, 1993, \"MTCP-1: a novel gene on the human chromosome Xq28 translocated to the T cell receptor alpha/delta locus in mature T cell proliferations\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8361760/","biology":"Enhances the phosphorylation and activation of AKT1 and AKT2. Locus Xq28 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)"],"targetClass":"other","prevalence":[]},{"id":"mthfr","kind":"target","name":"MTHFR","aka":["methylenetetrahydrofolate reductase","Methylenetetrahydrofolate reductase (NADPH)"],"tldr":"MTHFR (Methylenetetrahydrofolate reductase (NADPH)) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer and Prostate cancer.","summary":"Catalyses the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Represents a key regulatory connection between the folate and methionine cycles.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Fluorouracil.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7436","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7436"},{"label":"UniProt P42898","url":"https://www.uniprot.org/uniprotkb/P42898/entry"},{"label":"NCBI Gene 4524","url":"https://www.ncbi.nlm.nih.gov/gene/4524"},{"label":"Ensembl ENSG00000177000","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177000"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["gastric","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Rectum Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MTHFR","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7436","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7436","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42898","url":"https://www.uniprot.org/uniprotkb/P42898/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MTHFR","url":"https://civicdb.org/features/3672","note":"3 evidence items, 0 assertions, 1 variants; diseases: Stomach Cancer, Prostate Adenocarcinoma, Rectum Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MTHFR: RNA low tissue specificity; high antibody staining in 7 normal tissues; highest cancer staining thyroid cancer (3 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MTHFR tissue","url":"https://www.proteinatlas.org/ENSG00000177000-MTHFR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000177000 associations","url":"https://platform.opentargets.org/target/ENSG00000177000/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7436","ensembl":"ENSG00000177000","uniprot":"P42898","entrez":"4524","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Goyette et al, Nat. Genet, 1994, \"Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7920641/","biology":"Catalyses the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Represents a key regulatory connection between the folate and methionine cycles. Locus 1p36.22 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease","Prostate cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"mtor","kind":"target","name":"mTOR","aka":[],"tldr":"mTOR is the cell's master growth controller, deciding whether to build proteins and divide. Rapamycin-like drugs clamp it down in kidney, breast and neuroendocrine cancers and in rare tumours driven by TSC gene loss.","summary":"The mechanistic target of rapamycin is a serine/threonine kinase in two complexes: mTORC1 (with raptor) integrates growth-factor, nutrient and energy signals to control translation via S6K and 4E-BP1, and mTORC2 (with rictor) activates AKT. It is the downstream effector of the PI3K-AKT pathway and is hyperactivated by PIK3CA, PTEN and TSC1/2 alterations. Allosteric mTORC1 inhibitors (rapalogues) are approved: everolimus for renal cell carcinoma, HR-positive breast cancer, neuroendocrine tumours and TSC-associated tumours; temsirolimus for renal cell carcinoma; and albumin-bound sirolimus (Fyarro) for malignant PEComa. ATP-competitive dual mTORC1/2 and PI3K/mTOR inhibitors have not yet reached approval in cancer.","asOf":"2026-09-10","wikipedia":"https://en.wikipedia.org/wiki/MTOR","links":[{"label":"NCBI Gene MTOR","url":"https://www.ncbi.nlm.nih.gov/gene/2475"}],"tags":["kinase"],"related":[],"cancers":["rcc","breast-hr-positive","neuroendocrine","sarcoma"],"sections":[],"technologies":["pi3k-akt-mtor-inhibitors"],"targets":[],"drugs":["everolimus","temsirolimus","sirolimus-albumin-bound","sapanisertib"],"companies":[],"institutions":[],"pathways":["pi3k-akt-mtor","choline-metabolism-in-cancer","hepatocellular-carcinoma-signalling","renal-cell-carcinoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["mTOR is expressed in all cells and rapalogues are not selected on mTOR status, so the RCC row records the MTOR mutation rate rather than expression. No MTOR-specific series with a stated denominator was found for HR-positive breast cancer, neuroendocrine tumours or sarcoma; Jiao 2011 found mutations in mTOR-pathway genes (PTEN, TSC2, PIK3CA) rather than MTOR itself in 14% of 68 pancreatic neuroendocrine tumours (doi:10.1126/science.1200609)."],"symbol":"MTOR","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists MTOR among essential proteins and finds the RNA at low tissue specificity; the 4 medicines aimed at it (Everolimus, Temsirolimus, Sirolimus protein-bound particles and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA MTOR: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining carcinoid (2 of 4 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Breast cancer (all types), Neuroendocrine tumours, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (clear cell renal carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MTOR tissue","url":"https://www.proteinatlas.org/ENSG00000198793-MTOR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198793 associations","url":"https://platform.opentargets.org/target/ENSG00000198793/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3942","ensembl":"ENSG00000198793","uniprot":"P42345","entrez":"2475","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Brown E.J. et al, Nature, 1994, \"A mammalian protein targeted by G1-arresting rapamycin-receptor complex\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8008069/","biology":"Rapalogues bind FKBP12 and allosterically inhibit mTORC1; feedback activation of AKT and incomplete 4E-BP1 inhibition explain modest single-agent activity. Stomatitis, hyperglycaemia, hyperlipidaemia and non-infectious pneumonitis are class effects.","whereFound":["Renal cell carcinoma","HR-positive breast cancer (endocrine resistance)","Pancreatic and lung neuroendocrine tumours","Malignant PEComa and TSC-associated tumours (TSC1/2 loss)"],"targetClass":"kinase","prevalence":[{"cancerId":"rcc","pct":8.2,"measure":"Targeted NGS, MTOR mutation in 184 everolimus-treated RCC patients (RECORD-3)","source":"https://doi.org/10.1158/1078-0432.CCR-18-1833","note":"Voss 2019 (Clin Cancer Res); TSC1 6%, TSC2 4.4%, any PI3K-pathway alteration 44%; mutation status did not predict everolimus benefit"}]},{"id":"oprm1","kind":"target","name":"Mu-opioid receptor","aka":[],"tldr":"The mu-opioid receptor is the target of morphine and the other strong opioids that control most severe cancer pain; the same receptor in the gut causes opioid constipation, which methylnaltrexone and naloxegol relieve by blocking it outside the brain.","summary":"Mu-opioid receptors in the spinal cord and brain mediate the pain relief of morphine, oxycodone, fentanyl and methadone, which remain the mainstay of the WHO analgesic ladder for moderate to severe cancer pain. The same receptors in the intestinal wall slow gut movement, so opioid-induced constipation affects most patients on long-term opioids; peripherally acting antagonists such as methylnaltrexone, naloxegol and naldemedine block gut receptors without reaching the brain, and methylnaltrexone is approved specifically for opioid-induced constipation in advanced illness. Whether opioids influence tumour growth or recurrence through receptors on cancer cells is an open research question.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Μ-opioid_receptor","links":[{"label":"UniProt P35372: OPRM1","url":"https://www.uniprot.org/uniprotkb/P35372/entry"},{"label":"HGNC:8156 OPRM1","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8156"},{"label":"ChEMBL target CHEMBL233","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL233"}],"tags":["chembl-gap"],"related":[],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["methylnaltrexone"],"companies":[],"institutions":[],"pathways":[],"terms":["palliative-care"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"OPRM1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"not-established","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal brain, testis, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA OPRM1: RNA tissue enhanced (brain 4 nTPM, testis 3 nTPM); high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas OPRM1 tissue","url":"https://www.proteinatlas.org/ENSG00000112038-OPRM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas OPRM1 pathology","url":"https://www.proteinatlas.org/ENSG00000112038-OPRM1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000112038 associations","url":"https://platform.opentargets.org/target/ENSG00000112038/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8156","ensembl":"ENSG00000112038","uniprot":"P35372","entrez":"4988","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang J.-B. et al, FEBS Lett, 1994, \"Human mu opiate receptor. cDNA and genomic clones, pharmacologic characterization and chromosomal assignment\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7905839/","biology":"A Gi-coupled G-protein-coupled receptor that closes calcium channels and opens potassium channels in neurons, reducing neurotransmitter release; densely expressed in dorsal horn, periaqueductal grey and enteric neurons.","whereFound":["Central and enteric nervous system","Expressed on some tumour cells; significance under study"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"host","measure":"Host target: mu-opioid receptor in pain pathways and gut. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"muc16","kind":"target","name":"MUC16 (CA-125)","aka":[],"tldr":"The giant mucin that is shed into blood as the CA-125 ovarian cancer marker; its membrane stalk is being targeted by ADCs and T-cell engagers.","summary":"MUC16 is a giant transmembrane mucin overexpressed in ovarian (~80%), pancreatic, endometrial and lung cancers; its shed ectodomain is CA-125, used since 1983 for monitoring ovarian cancer. Therapeutics target the membrane-retained stalk: ubamatamab (MUC16×CD3 bispecific, Regeneron) in phase 2 in ovarian cancer, sofituzumab vedotin (ADC) discontinued, MUC16 CAR-T (with IL-12 armouring) in phase 1. Anti-CA-125 vaccines (abagovomab, oregovomab) failed in phase 3, oregovomab most recently in 2024 (FLORA-5).","asOf":"2026-09-21","wikipedia":"https://en.wikipedia.org/wiki/CA-125","links":[{"label":"Ubamatamab phase 1/2 study design (JCO 2024, TPS5632)","url":"https://doi.org/10.1200/JCO.2024.42.16_suppl.TPS5632"},{"label":"Ubamatamab translational study (Zhu et al., Clin Transl Sci 2024)","url":"https://doi.org/10.1111/cts.70082"}],"tags":["gap-fill"],"related":["mesothelin","folr1"],"cancers":["ovarian","pancreatic","endometrial"],"sections":[],"technologies":["t-cell-engager","adc","car-t"],"targets":[],"drugs":["ubamatamab"],"companies":["regeneron"],"institutions":[],"pathways":[],"terms":["ca-125"],"trials":["nct07480954"],"people":[],"bottlenecks":[],"keyPapers":["paper-zhu-clin-transl-sci"],"journals":[],"dependsOn":[],"notes":[],"symbol":"MUC16","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (Ubamatamab) aim at the antigen, which HPA finds stained high in 4 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA MUC16: RNA group enriched (adipose tissue 7 nTPM, cervix 15 nTPM, fallopian tube 6 nTPM); high antibody staining in 4 normal tissues; highest cancer staining ovarian cancer (11 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Pancreatic ductal adenocarcinoma, Endometrial cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (ovarian cancer). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MUC16 tissue","url":"https://www.proteinatlas.org/ENSG00000181143-MUC16/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MUC16 pathology","url":"https://www.proteinatlas.org/ENSG00000181143-MUC16/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000181143 associations","url":"https://platform.opentargets.org/target/ENSG00000181143/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:15582","ensembl":"ENSG00000181143","uniprot":"Q8WXI7","entrez":"94025","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: O'Brien T.J. et al, Tumor Biol, 2001, \"The CA 125 gene: an extracellular superstructure dominated by repeat sequences\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11786729/","biology":"22,000-amino-acid mucin with tandem repeats, SEA domains cleaved to release CA-125, and a short cytoplasmic tail; mediates immune evasion (binds Siglec-9, mesothelin), adhesion to mesothelium and metastasis.","whereFound":["High-grade serous ovarian cancer (~80%)","Pancreatic adenocarcinoma (~65%)","Endometrial, lung adenocarcinoma, mesothelioma","Serum CA-125 in ovarian cancer monitoring"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"ovarian","pct":"80","measure":"MUC16 expression","source":"https://doi.org/10.1158/1078-0432.CCR-06-1707"}]},{"id":"muc6","kind":"target","name":"MUC6","aka":["mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)","Mucin-6","MUC-6"],"tldr":"MUC6 (Mucin-6) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Acute myeloid leukaemia and Non-small-cell lung cancer.","summary":"May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumour markers in a variety of cancers. May play a role in epithelial organogenesis.\n\nIntOGen calls it a driver in 3 cohorts (3 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia, Hepatocellular Carcinoma, Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7517","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7517"},{"label":"UniProt Q6W4X9","url":"https://www.uniprot.org/uniprotkb/Q6W4X9/entry"},{"label":"NCBI Gene 4588","url":"https://www.ncbi.nlm.nih.gov/gene/4588"},{"label":"Ensembl ENSG00000184956","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184956"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["hcc","aml","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MUC6","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7517","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7517","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6W4X9","url":"https://www.uniprot.org/uniprotkb/Q6W4X9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MUC6","url":"https://www.intogen.org/search?gene=MUC6","note":"driver in 3 cohorts (Act 3, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7517","ensembl":"ENSG00000184956","uniprot":"Q6W4X9","entrez":"4588","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Toribara N.W. et al, J. Biol. Chem, 1993, \"Human gastric mucin. Identification of a unique species by expression cloning\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7680650/","biology":"May provide a mechanism for modulation of the composition of the protective mucus layer related to acid secretion or the presence of bacteria and noxious agents in the lumen. Plays an important role in the cytoprotection of epithelial surfaces and are used as tumour markers in a variety of cancers. May play a role in epithelial organogenesis. Location: Secreted (UniProt). Locus 11p15.5 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"oncogene","prevalence":[]},{"id":"mus81","kind":"target","name":"MUS81","aka":["MUS81 structure-specific endonuclease subunit","Structure-specific endonuclease subunit MUS81","FLJ44872","SLX3"],"tldr":"MUS81 (Structure-specific endonuclease subunit MUS81) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer.","summary":"Catalytic subunit of two functionally distinct, structure-specific, heterodimeric DNA endonucleases MUS81-EME1 and MUS81-EME2 that are involved in the maintenance of genome stability. Both endonucleases have essentially the same substrate specificity though MUS81-EME2 is more active than its MUS81-EME1 counterpart. Both cleave 3'-flaps and nicked Holliday junctions, and exhibit limited endonuclease activity with 5' flaps and nicked double-stranded DNAs.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Olaparib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29814","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29814"},{"label":"UniProt Q96NY9","url":"https://www.uniprot.org/uniprotkb/Q96NY9/entry"},{"label":"NCBI Gene 80198","url":"https://www.ncbi.nlm.nih.gov/gene/80198"},{"label":"Ensembl ENSG00000172732","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172732"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MUS81","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29814","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29814","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96NY9","url":"https://www.uniprot.org/uniprotkb/Q96NY9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MUS81","url":"https://civicdb.org/features/15315","note":"1 evidence items, 0 assertions, 2 variants; diseases: Ovarian Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA MUS81: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MUS81 tissue","url":"https://www.proteinatlas.org/ENSG00000172732-MUS81/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000172732 associations","url":"https://platform.opentargets.org/target/ENSG00000172732/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29814","ensembl":"ENSG00000172732","uniprot":"Q96NY9","entrez":"80198","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen X.-B. et al, Mol. Cell, 2001, \"Human Mus81-associated endonuclease cleaves Holliday junctions in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11741546/","biology":"Catalytic subunit of two functionally distinct, structure-specific, heterodimeric DNA endonucleases MUS81-EME1 and MUS81-EME2 that are involved in the maintenance of genome stability. Both endonucleases have essentially the same substrate specificity though MUS81-EME2 is more active than its MUS81-EME1 counterpart. Both cleave 3'-flaps and nicked Holliday junctions, and exhibit limited endonuclease activity with 5' flaps and nicked double-stranded DNAs. MUS81-EME2 which is active during the replication of DNA is more specifically involved in replication fork processing. Replication forks frequently encounter obstacles to their passage, including DNA base lesions, DNA interstrand cross-links, difficult-to-replicate sequences, transcription bubbles, or tightly bound proteins. One mechanism for the restart of a stalled replication fork involves nucleolytic cleavage mediated by the MUS81-EME2 endonuclease. Location: Nucleus, nucleolus (UniProt). Locus 11q13 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"mutyh","kind":"target","name":"MUTYH","aka":["mutY DNA glycosylase","Adenine DNA glycosylase"],"tldr":"MUTYH (Adenine DNA glycosylase) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Breast cancer and 5 more.","summary":"Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities.\n\nOpen Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.66, affected pathway 0.87, literature 0.85, genetic association 0.81, somatic mutation 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7527","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7527"},{"label":"UniProt Q9UIF7","url":"https://www.uniprot.org/uniprotkb/Q9UIF7/entry"},{"label":"NCBI Gene 4595","url":"https://www.ncbi.nlm.nih.gov/gene/4595"},{"label":"Ensembl ENSG00000132781","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132781"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","gastric","breast-cancer","ovarian","skin-cancer","lung-cancer","brain-tumours","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MUTYH","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7527","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7527","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UIF7","url":"https://www.uniprot.org/uniprotkb/Q9UIF7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000132781","url":"https://platform.opentargets.org/target/ENSG00000132781/associations","note":"association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: colorectal cancer 0.78, gastric cancer 0.72, ovarian cancer 0.57, endometrial cancer 0.51, melanoma 0.51, skin cancer 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7527","ensembl":"ENSG00000132781","uniprot":"Q9UIF7","entrez":"4595","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Slupska M.M. et al, J. Bacteriol, 1996, \"Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8682794/","biology":"Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities. Location: Nucleus; Mitochondrion (UniProt). Locus 1p34.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.78 with colorectal cancer (MONDO_0005575)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.72 with gastric cancer (MONDO_0001056)","Breast cancer: Open Targets association 0.64 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.57 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)"],"targetClass":"enzyme","prevalence":[]},{"id":"mx2","kind":"target","name":"MX2","aka":["MX dynamin like GTPase 2","Interferon-induced GTP-binding protein Mx2"],"tldr":"MX2 (Interferon-induced GTP-binding protein Mx2) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer and Melanoma.","summary":"Interferon-induced dynamin-like GTPase with potent antiviral activity against human immunodeficiency virus type 1 (HIV-1). Acts by targeting the viral capsid and affects the nuclear uptake and/or stability of the HIV-1 replication complex and the subsequent chromosomal integration of the proviral DNA. Exhibits antiviral activity also against simian immunodeficiency virus (SIV-mnd).\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.49, animal model 0.41, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7533","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7533"},{"label":"UniProt P20592","url":"https://www.uniprot.org/uniprotkb/P20592/entry"},{"label":"NCBI Gene 4600","url":"https://www.ncbi.nlm.nih.gov/gene/4600"},{"label":"Ensembl ENSG00000183486","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183486"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MX2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7533","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7533","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20592","url":"https://www.uniprot.org/uniprotkb/P20592/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000183486","url":"https://platform.opentargets.org/target/ENSG00000183486/associations","note":"association with cancer (MONDO_0004992) 0.52; per-cancer scores at or above 0.5: melanoma 0.54, skin cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7533","ensembl":"ENSG00000183486","uniprot":"P20592","entrez":"4600","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aebi et al, Mol. Cell. Biol, 1989, \"cDNA structures and regulation of two interferon-induced human Mx proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2481229/","biology":"Interferon-induced dynamin-like GTPase with potent antiviral activity against human immunodeficiency virus type 1 (HIV-1). Acts by targeting the viral capsid and affects the nuclear uptake and/or stability of the HIV-1 replication complex and the subsequent chromosomal integration of the proviral DNA. Exhibits antiviral activity also against simian immunodeficiency virus (SIV-mnd). May play a role in regulating nucleocytoplasmic transport and cell-cycle progression. Location: Cytoplasm; Nucleus; Nucleus, nuclear pore complex (UniProt). Locus 21q22.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.54 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},{"id":"mxi1","kind":"target","name":"MXI1","aka":["MAX interactor 1, dimerization protein","Max-interacting protein 1","MXD2","MAD2","bHLHc11"],"tldr":"MXI1 (Max-interacting protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognises the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonises MYC transcriptional activity by competing for MAX.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.76, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7534","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7534"},{"label":"UniProt P50539","url":"https://www.uniprot.org/uniprotkb/P50539/entry"},{"label":"NCBI Gene 4601","url":"https://www.ncbi.nlm.nih.gov/gene/4601"},{"label":"Ensembl ENSG00000119950","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119950"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["mitotic-spindle-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MXI1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7534","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7534","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50539","url":"https://www.uniprot.org/uniprotkb/P50539/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000119950","url":"https://platform.opentargets.org/target/ENSG00000119950/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: prostate cancer 0.59 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7534","ensembl":"ENSG00000119950","uniprot":"P50539","entrez":"4601","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zervos A.S. et al, Cell, 1993, \"Mxi1, a protein that specifically interacts with Max to bind Myc-Max recognition sites\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8425219/","biology":"Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognises the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonises MYC transcriptional activity by competing for MAX. Location: Nucleus (UniProt). Locus 10q25.2 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)"],"targetClass":"transcription","prevalence":[]},{"id":"myb","kind":"target","name":"MYB","aka":["MYB proto-oncogene, transcription factor","Transcriptional activator Myb","c-myb"],"tldr":"MYB (Transcriptional activator Myb) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer, Colorectal cancer and 5 more.","summary":"Transcriptional activator; DNA-binding protein that specifically recognise the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of haematopoietic progenitor cells.\n\nCIViC holds 7 clinical evidence items and 2 assertions across 3 variants. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes affected pathway 0.44, literature 0.99, genetic association 0.10, somatic mutation 0.98, animal model 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7545","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7545"},{"label":"UniProt P10242","url":"https://www.uniprot.org/uniprotkb/P10242/entry"},{"label":"NCBI Gene 4602","url":"https://www.ncbi.nlm.nih.gov/gene/4602"},{"label":"Ensembl ENSG00000118513","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118513"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["skin-cancer","breast-cancer","colorectal","leukaemia","non-hodgkin-lymphoma","paediatric-low-grade-glioma","melanoma","oral-cavity-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 7 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Diffuse Astrocytoma, MYB- Or MYBL1-altered; Angiocentric Glioma; Isomorphic Diffuse Glioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYB","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7545","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7545","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10242","url":"https://www.uniprot.org/uniprotkb/P10242/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MYB","url":"https://civicdb.org/features/3730","note":"7 evidence items, 2 assertions, 3 variants; diseases: Diffuse Astrocytoma, MYB- Or MYBL1-altered, Angiocentric Glioma, Childhood Low-grade Glioma, Isomorphic Diffuse Glioma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000118513","url":"https://platform.opentargets.org/target/ENSG00000118513/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.55, melanoma 0.57, non-Hodgkin lymphoma 0.52, skin cancer 0.58, breast cancer 0.56, leukaemia 0.52 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MYB: RNA group enriched (bone marrow 33 nTPM, breast 19 nTPM, intestine 25 nTPM); blood lineage group enriched (dendritic cells 2 nTPM, granulocytes 5 nTPM); high antibody staining in 11 normal tissues; highest cancer staining urothelial cancer (10 of 10 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Breast cancer (all types), Colorectal cancer, Leukaemia, Lymphoma, Brain and spinal cord tumours (all types), Head and neck squamous cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MYB tissue","url":"https://www.proteinatlas.org/ENSG00000118513-MYB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118513 associations","url":"https://platform.opentargets.org/target/ENSG00000118513/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7545","ensembl":"ENSG00000118513","uniprot":"P10242","entrez":"4602","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Majello et al, Proc. Natl. Acad. Sci. U.S.A, 1986, \"Human c-myb protooncogene: nucleotide sequence of cDNA and organization of the genomic locus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3540945/","biology":"Transcriptional activator; DNA-binding protein that specifically recognise the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of haematopoietic progenitor cells. Location: Nucleus (UniProt). Locus 6q23.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Leukaemia: Open Targets association 0.52 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)","Paediatric low-grade glioma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"mybl1","kind":"target","name":"MYBL1","aka":["MYB proto-oncogene like 1","Myb-related protein A","A-myb"],"tldr":"MYBL1 (Myb-related protein A) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Transcription factor that specifically recognises the sequence 5'-YAAC[GT]G-3'. Acts as a master regulator of male meiosis by promoting expression of piRNAs: activates expression of both piRNA precursor RNAs and expression of protein-coding genes involved in piRNA metabolism. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity.\n\nCIViC holds 3 clinical evidence items and 1 assertion across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7547","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7547"},{"label":"UniProt P10243","url":"https://www.uniprot.org/uniprotkb/P10243/entry"},{"label":"NCBI Gene 4603","url":"https://www.ncbi.nlm.nih.gov/gene/4603"},{"label":"Ensembl ENSG00000185697","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185697"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Diffuse Astrocytoma, MYB- Or MYBL1-altered."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYBL1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7547","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7547","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10243","url":"https://www.uniprot.org/uniprotkb/P10243/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MYBL1","url":"https://civicdb.org/features/3731","note":"3 evidence items, 1 assertions, 1 variants; diseases: Diffuse Astrocytoma, MYB- Or MYBL1-altered (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MYBL1: RNA tissue enhanced (lymphoid tissue 19 nTPM, testis 11 nTPM); blood lineage lineage enhanced (T-cells 2 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MYBL1 tissue","url":"https://www.proteinatlas.org/ENSG00000185697-MYBL1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185697 associations","url":"https://platform.opentargets.org/target/ENSG00000185697/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7547","ensembl":"ENSG00000185697","uniprot":"P10243","entrez":"4603","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, Nucleic Acids Res, 1988, \"Isolation of human cDNA clones of myb-related genes, A-myb and B-myb\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3060855/","biology":"Transcription factor that specifically recognises the sequence 5'-YAAC[GT]G-3'. Acts as a master regulator of male meiosis by promoting expression of piRNAs: activates expression of both piRNA precursor RNAs and expression of protein-coding genes involved in piRNA metabolism. The piRNA metabolic process mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons, which is essential for the germline integrity. Transcriptional activator of SOX30. Location: Nucleus (UniProt). Locus 8q13.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"myc-gene","kind":"target","name":"MYC","aka":["MYC proto-oncogene, bHLH transcription factor","Myc proto-oncogene protein","c-Myc","bHLHe39"],"tldr":"MYC (Myc proto-oncogene protein) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Skin cancer, Multiple myeloma and 5 more.","summary":"Transcription factor that binds DNA in a non-specific manner, yet also specifically recognises the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis.\n\nCIViC holds 12 clinical evidence items and 0 assertions across 4 variants, naming Capmatinib, Olaparib, Pazopanib and Ganetespib and others. Open Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes affected pathway 0.83, literature 1.00, genetic association 0.65, somatic mutation 0.81, animal model 0.52). IntOGen calls it a driver in 4 cohorts (2 activating, 2 loss-of-function), covering Acute Myeloid Leukaemia, Burkitt Lymphoma, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7553","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7553"},{"label":"UniProt P01106","url":"https://www.uniprot.org/uniprotkb/P01106/entry"},{"label":"NCBI Gene 4609","url":"https://www.ncbi.nlm.nih.gov/gene/4609"},{"label":"Ensembl ENSG00000136997","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136997"},{"label":"Dalla-Favera et al., PNAS 1982: human c-myc lies in the chromosome 8 region translocated in Burkitt lymphoma","url":"https://doi.org/10.1073/pnas.79.24.7824"},{"label":"Horn et al., Blood 2013: MYC, BCL2 and BCL6 rearrangement and expression in 442 RICOVER patients","url":"https://doi.org/10.1182/blood-2012-06-435842"},{"label":"Johnson et al., J Clin Oncol 2012: concurrent MYC and BCL2 protein expression in diffuse large B-cell lymphoma treated with R-CHOP","url":"https://doi.org/10.1200/JCO.2011.41.0985"},{"label":"Alaggio et al., Leukemia 2022: the fifth edition of the WHO classification of haematolymphoid tumours, lymphoid neoplasms","url":"https://doi.org/10.1038/s41375-022-01620-2"},{"label":"Eskelund et al., Blood 2017: TP53 mutations in 183 younger mantle cell lymphoma patients from Nordic MCL2 and MCL3","url":"https://doi.org/10.1182/blood-2017-04-779736"},{"label":"Rossi et al., Blood 2011: the genetics of Richter syndrome in 86 pathologically proven cases","url":"https://doi.org/10.1182/blood-2010-09-302174"},{"label":"Young and Rickinson, Nat Rev Cancer 2004: Epstein-Barr virus, 40 years on","url":"https://doi.org/10.1038/nrc1452"},{"label":"Kuppers, Nat Rev Cancer 2009: the biology of Hodgkin's lymphoma","url":"https://doi.org/10.1038/nrc2542"},{"label":"Schmitz et al., Nature 2012: Burkitt lymphoma pathogenesis from structural and functional genomics","url":"https://doi.org/10.1038/nature11378"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","skin-cancer","multiple-myeloma","esophageal","urothelial","leukaemia","prostate","breast-cancer","pancreatic","colorectal","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["basal-cell-carcinoma-signalling","bladder-cancer-signalling","cancer-metabolism","circadian-control","dna-replication-licensing","er-signaling","glutamine-metabolism","micrornas-in-cancer","mrna-translation-eif4f","myc","notch","ras-mapk","replication-stress","sclc-signalling","transcription-addiction","wnt","p53-mdm2-axis","chromosomal-instability","oncogenic-viruses","inflammation-nfkb","bcr-signalling","pi3k-akt-mtor","cell-cycle-engine-cdks"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-witkiewicz-pancreatic-exomes-utsw-nat-commun-2015","paper-hayashi-squamous-basal-like-pancreatic-nat-cancer-2020","paper-andricovich-kdm6a-squamous-pancreatic-cancer-cell-2018","paper-tcga-colorectal-comprehensive-characterization-nature-2012"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 9 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 12 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: High-grade B-cell Lymphoma, With MYC And BCL2 Rearrangements.","Pancreatic ductal adenocarcinoma: amplified in 4 to 13% depending on platform (12.6% of 183 TCGA and 11.9% of 109 UTSW samples by array or exome, 4.2% on the MSK panel; cBioPortal). MYC amplification was uniquely associated with poor outcome and adenosquamous histology among 109 microdissected cancers (Witkiewicz 2015), varies between cells within squamous-feature tumours (Hayashi 2020) and lies downstream of the super-enhancers released by KDM6A loss (Andricovich 2018).","Colorectal cancer: high-level amplification in 4 to 5% (cBioPortal), but the TCGA integrative reading is that MYC-directed transcriptional activation and repression is the common output of APC loss whether or not the gene is amplified, which is why MYC matters in a disease where it is rarely amplified (Cancer Genome Atlas Network 2012).","Lung cancer: high-level amplification in about 7 to 8% of non-small-cell tumours (cBioPortal). In small-cell disease the three MYC paralogues are amplified in a mutually exclusive pattern and track the transcriptional state, MYCL with the ASCL1 subtype and MYC with the NEUROD1 subtype and the shift towards a less neuroendocrine phenotype (Rudin 2019).","Lymphoma, MYC, and the double-hit and triple-hit definitions: MYC was mapped to 8q24, the region translocated to chromosome 2, 14 or 22 in Burkitt lymphoma cells, in 1982 (Dalla-Favera 1982); the partner is always an immunoglobulin locus, so the transcription factor is driven by the enhancer that should be driving antibody production. A double hit is a MYC rearrangement together with a BCL2 rearrangement, a triple hit adds BCL6. The two lesions are complementary rather than additive: MYC drives proliferation and would normally trigger apoptosis, and BCL2 removes that safeguard. Frequency: MYC rearrangement in 8.8% of 442 diffuse large B-cell lymphomas, BCL2 in 13.5% and BCL6 in 28.7% (Horn 2013). Protein overexpression is much commoner than rearrangement: MYC protein above the 40% threshold in 31.8% of the same cohort (Horn 2013), and in a separate 167-patient training cohort MYC protein in 29%, BCL2 protein in 44% and both together in 21%, against MYC translocation in only 11% (Johnson 2012). What it changes about treatment: The WHO fifth edition separates high-grade B-cell lymphoma with MYC and BCL2 rearrangements as its own entity (Alaggio 2022), and in practice a double hit moves most patients off R-CHOP onto a more intensive regimen, although the randomised evidence for doing so is thin. Double expression of the two proteins without rearrangement is prognostic, not a separate entity, and does not by itself change the regimen: in the trial cohort MYC protein predicted worse survival only when BCL2 protein was present too (Johnson 2012).","Lymphoma, TP53 loss, in mantle cell lymphoma and in Richter transformation: TP53 is the commonest route by which a lymphoma stops responding to chemotherapy, because chemotherapy kills largely by provoking a p53-dependent death. In mantle cell lymphoma it travels with blastoid morphology, a high Ki-67 and CDKN2A deletion. In Richter transformation it is one of two lesions that dominate the genetics, and the transformed clone is usually the same clone as the leukaemia rather than a second cancer. Frequency: In 183 younger mantle cell lymphoma patients from the Nordic MCL2 and MCL3 trials, TP53 mutation in 11% and TP53 deletion in 16%, with CDKN2A deletion in 20% and NOTCH1 mutation in 4%; only TP53 mutation kept its prognostic weight in multivariable analysis, with a hazard ratio of 6.2 for overall survival, a median overall survival of 1.8 years against 12.7 years for unmutated cases, and half the mutated group relapsing within a year (Eskelund 2017). In 86 cases of Richter syndrome, TP53 disruption in 47.1% and MYC abnormality in 26.2%; clonally unrelated transformations had both a longer median survival, 62.5 against 14.2 months, and less TP53 disruption, 23.1% against 60.0% (Rossi 2011). What it changes about treatment: In mantle cell lymphoma, yes in practice if not yet on any label: a TP53 mutation is the usual reason to abandon intensive cytarabine-based induction and autologous transplant and to go to a BTK inhibitor, a BCL-2 inhibitor or CAR-T instead. In Richter transformation it is the main prognostic variable, and establishing whether the large-cell clone is related to the leukaemic one changes the expected outcome more than any drug does.","Lymphoma, Epstein-Barr virus and its latency programmes: Epstein-Barr virus persists for life in the memory B-cell pool of almost everyone, and what it expresses while it is there decides what it can cause. In latency I only EBNA1 is made, which is enough to keep the episome but gives the immune system almost nothing to see; this is the Burkitt pattern, where the virus coexists with a MYC translocation. In latency II, EBNA1 with LMP1 and LMP2, LMP1 mimics a permanently engaged CD40 receptor and drives NF-kB; this is the Hodgkin and NK/T-cell pattern. In latency III the full set of nuclear antigens and membrane proteins is expressed and will immortalise a resting B cell outright, which is what happens when T-cell surveillance is removed, as in post-transplant lymphoproliferative disorder and HIV-associated lymphoma. The virus was found in the first place by electron microscopy of cells cultured from Burkitt lymphoma, whose geographic distribution matching holoendemic malaria had suggested a viral cause (Young and Rickinson 2004). Frequency: The share of each disease that is EBV-positive varies by subtype, by geography and by age, and this layer does not state a single figure because the published ranges are wide and cohort-dependent. What is consistent is the direction: the proportion rises with immunosuppression and with age, and endemic Burkitt lymphoma in equatorial Africa is almost uniformly positive while sporadic Burkitt lymphoma usually is not. What it changes about treatment: Reducing immunosuppression is the first treatment of post-transplant lymphoproliferative disorder, which is the only place where acting on the virus changes the plan. Plasma EBV DNA is used to monitor response in NK/T-cell lymphoma and in post-transplant disease. EBV-specific T cells are licensed for post-transplant disease after transplant failure.","Lymphoma, TCF3, ID3 and CCND3 in Burkitt lymphoma: A MYC translocation alone does not make a Burkitt lymphoma; it needs a partner that supplies survival. In Burkitt the partner is tonic B-cell receptor signalling through TCF3, the transcription factor also known as E2A: mutations either activate TCF3 or inactivate its negative regulator ID3, and TCF3 then switches on the PI3K pathway partly by augmenting tonic receptor signalling. A second, independent lesion drives the cell cycle directly, through CCND3 mutations that produce unusually stable cyclin D3. Frequency: TCF3 or ID3 mutation in 70% of sporadic Burkitt lymphoma cases and oncogenic CCND3 mutations in 38%, in a study combining high-throughput RNA sequencing with RNA interference screening (Schmitz 2012). What it changes about treatment: Not yet, and the gap is uncomfortable, because the regimens that cure Burkitt lymphoma are the most toxic in lymphoma and are the reason the disease is hard to treat in older patients and in low-resource settings, which is exactly where the endemic form occurs."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYC","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7553","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7553","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01106","url":"https://www.uniprot.org/uniprotkb/P01106/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MYC","url":"https://civicdb.org/features/3737","note":"12 evidence items, 0 assertions, 4 variants; diseases: Lung Adenocarcinoma, Diffuse Large B-cell Lymphoma, Multiple Myeloma, Oesophageal Carcinoma, Oesophagus Squamous Cell Carcinoma and 5 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000136997","url":"https://platform.opentargets.org/target/ENSG00000136997/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: prostate cancer 0.55, urinary bladder cancer 0.59, acute lymphoblastic leukaemia 0.53, diffuse large B-cell lymphoma 0.59, non-Hodgkin lymphoma 0.77, skin cancer 0.60 (GraphQL API, CC0)"},{"label":"IntOGen MYC","url":"https://www.intogen.org/search?gene=MYC","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MYC: RNA tissue enhanced (adipose tissue 251 nTPM, skin 1 277 nTPM); high antibody staining in 5 normal tissues; highest cancer staining prostate cancer (4 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Skin cancer (all types), Multiple myeloma, Oesophageal cancer, Bladder & urothelial cancer, Leukaemia, Prostate cancer and more); Open Targets associates it with 3 specific cancer types at or above 0.5 (Burkitt lymphoma, breast carcinoma, urinary bladder carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P01106","url":"https://www.uniprot.org/uniprotkb/P01106/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MYC","url":"https://civicdb.org/features/3737","note":"12 evidence items, 0 assertions, 4 variants; diseases: Lung Adenocarcinoma, Diffuse Large B-cell Lymphoma, Multiple Myeloma, Oesophageal Carcinoma, Oesophagus Squamous Cell Carcinoma and 5 more (GraphQL API, CC0)"},{"label":"IntOGen MYC","url":"https://www.intogen.org/search?gene=MYC","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas MYC tissue","url":"https://www.proteinatlas.org/ENSG00000136997-MYC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136997 associations","url":"https://platform.opentargets.org/target/ENSG00000136997/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7553","ensembl":"ENSG00000136997","uniprot":"P01106","entrez":"4609","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Battey et al, Cell, 1983, \"The human c-myc oncogene: structural consequences of translocation into the IgH locus in Burkitt lymphoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6414718/","biology":"Transcription factor that binds DNA in a non-specific manner, yet also specifically recognises the core sequence 5'-CAC[GA]TG-3'. Activates the transcription of growth-related genes. Binds to the VEGFA promoter, promoting VEGFA production and subsequent sprouting angiogenesis. Regulator of somatic reprogramming, controls self-renewal of embryonic stem cells. Functions with TAF6L to activate target gene expression through RNA polymerase II pause release. Positively regulates transcription of HNRNPA1, HNRNPA2 and PTBP1 which in turn regulate splicing of pyruvate kinase PKM by binding repressively to sequences flanking PKM exon 9, inhibiting exon 9 inclusion and resulting in exon 10 inclusion and production of the PKM M2 isoform. Location: Nucleus, nucleoplasm; Nucleus, nucleolus; Nucleus; Cytoplasm (UniProt). Locus 8q24.21 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.77 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Skin cancer: Open Targets association 0.60 with skin cancer (MONDO_0002898)","Multiple myeloma: CIViC evidence names this disease","Oesophageal cancer: CIViC evidence names this disease","Bladder & urothelial cancer: Open Targets association 0.59 with urinary bladder cancer (MONDO_0001187)","Leukaemia: Open Targets association 0.56 with leukaemia (MONDO_0005059)","Pancreatic ductal adenocarcinoma: amplification 4-13%","Colorectal cancer: high-level amplification (8q24) 4-5%"],"targetClass":"transcription","prevalence":[{"cancerId":"pancreatic","pct":"4-13","measure":"Amplification","source":"https://www.cbioportal.org/study/summary?id=paad_tcga_pan_can_atlas_2018","note":"cBioPortal high-level amplification: 23 of 183, 12.6%, in paad_tcga_pan_can_atlas_2018; 13 of 109, 11.9%, in paad_utsw_2015; 98 of 2,336, 4.2%, in pdac_msk_2024; 11 of 395, 2.8%, in pancreas_msk_2024. MYC amplification was uniquely associated with poor outcome and the adenosquamous subtype among 109 microdissected cancers (Witkiewicz 2015); squamous-feature cancers showed intercellular heterogeneity for MYC amplification (Hayashi 2020); KDM6A loss activates a MYC super-enhancer (Andricovich 2018)."},{"cancerId":"colorectal","pct":"4-5","measure":"High-level amplification (8q24)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal high-level amplification: 354 of 7,237, 4.9%, in crc_msk_2026; 46 of 1,134, 4.1%, in crc_msk_2017; 71 of 1,516, 4.7%, in crc_eo_2020; 30 of 592, 5.1%, in coadread_tcga_pan_can_atlas_2018; 11 of 257 in coadread_tcga_pub. The TCGA integrative analysis concluded that MYC-directed transcriptional activation and repression is central to the disease even where the gene is not amplified, because APC loss switches it on (Cancer Genome Atlas Network 2012)."}]},{"id":"mycl","kind":"target","name":"MYCL","aka":["MYCL proto-oncogene, bHLH transcription factor","bHLHe38","MYCL1"],"tldr":"MYCL (MYCL proto-oncogene, bHLH transcription factor) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Multiple myeloma, Skin cancer and Melanoma.","summary":"UniProt has no function text for P12524; HGNC names it \"MYCL proto-oncogene, bHLH transcription factor\".\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming JQ1 and I-BET151. Open Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.35, genetic association 0.00, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7555","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7555"},{"label":"UniProt P12524","url":"https://www.uniprot.org/uniprotkb/P12524/entry"},{"label":"NCBI Gene 4610","url":"https://www.ncbi.nlm.nih.gov/gene/4610"},{"label":"Ensembl ENSG00000116990","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116990"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["multiple-myeloma","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYCL","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7555","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7555","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12524","url":"https://www.uniprot.org/uniprotkb/P12524/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MYCL","url":"https://civicdb.org/features/3738","note":"1 evidence items, 0 assertions, 1 variants; diseases: Multiple Myeloma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000116990","url":"https://platform.opentargets.org/target/ENSG00000116990/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: melanoma 0.55, skin cancer 0.56 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MYCL: RNA tissue enhanced (pancreas 64 nTPM, skin 1 37 nTPM); blood lineage group enriched (dendritic cells 23 nTPM, monocytes 17 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MYCL tissue","url":"https://www.proteinatlas.org/ENSG00000116990-MYCL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116990 associations","url":"https://platform.opentargets.org/target/ENSG00000116990/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7555","ensembl":"ENSG00000116990","uniprot":"P12524","entrez":"4610","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: DePinho R.A. et al, Genes Dev, 1987, \"The human myc gene family: structure and activity of L-myc and an L-myc pseudogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3322939/","biology":"UniProt has no function text for P12524; HGNC names it \"MYCL proto-oncogene, bHLH transcription factor\". Location: Nucleus (UniProt). Locus 1p34.2 (HGNC).","whereFound":["Multiple myeloma: CIViC evidence names this disease","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},{"id":"mycn","kind":"target","name":"MYCN (N-myc)","aka":["N-myc","NMYC","bHLHe37"],"tldr":"MYCN is a growth-driving gene that some neuroblastomas copy many times over; that amplification is one of the strongest signs the tumour is aggressive and sets the intensity of treatment.","summary":"MYCN encodes the N-myc transcription factor, a paralogue of MYC expressed in the developing neural crest. Amplification (many extra copies, detected by FISH) occurs in about 20 percent of neuroblastomas and places a child in the high-risk group of the INRG and COG classifications whatever the age or stage; it also defines a rare aggressive spinal ependymoma group and is amplified in some medulloblastomas and retinoblastomas. There is no approved MYCN-directed drug; the readout page carries the amplification rule and the risk groups that use it.","asOf":"2026-09-23","wikipedia":"https://en.wikipedia.org/wiki/N-Myc","links":[{"label":"HGNC HGNC:7559","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7559"},{"label":"UniProt P04198","url":"https://www.uniprot.org/uniprotkb/P04198/entry"}],"tags":["biomarker-parent"],"related":["mycn-amp"],"cancers":["neuroblastoma","neuroblastoma-high-risk"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["mycn-amplification","gene-amplification","fish"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"MYCN","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"approved-drug","sources":[],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MYCN: RNA tissue enhanced (brain 6 nTPM, placenta 8 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Childhood cancers (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (basal cell carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MYCN tissue","url":"https://www.proteinatlas.org/ENSG00000134323-MYCN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000134323 associations","url":"https://platform.opentargets.org/target/ENSG00000134323/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7559","ensembl":"ENSG00000134323","uniprot":"P04198","entrez":"4613","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Michitsch R.W. et al, Nucleic Acids Res, 1985, \"Nucleotide sequence of the 3' exon of the human N-myc gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2987858/","biology":"N-myc dimerises with MAX and drives proliferation, ribosome biogenesis and metabolic programmes while repressing differentiation; amplified tumours depend on it and are being targeted indirectly through Aurora A, BET and CDK7 inhibitors.","whereFound":["Neuroblastoma (amplified in about 20 percent)","Spinal ependymoma, MYCN-amplified","Medulloblastoma group 3","Retinoblastoma"],"targetClass":"transcription","prevalence":[]},{"id":"myd88","kind":"target","name":"MYD88","aka":["MYD88 innate immune signal transduction adaptor","Myeloid differentiation primary response protein MyD88"],"tldr":"MYD88 (Myeloid differentiation primary response protein MyD88) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 4 more.","summary":"Adapter protein involved in the Toll-like receptor and IL-1 receptor signalling pathway in the innate immune response. Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Increases IL-8 transcription.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 2 variants, naming Paclitaxel, Ibrutinib, IRAK-1/4 Inhibitor and IMG-2005-5. Open Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.95). IntOGen calls it a driver in 10 cohorts (10 activating, 0 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7562","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7562"},{"label":"UniProt Q99836","url":"https://www.uniprot.org/uniprotkb/Q99836/entry"},{"label":"NCBI Gene 4615","url":"https://www.ncbi.nlm.nih.gov/gene/4615"},{"label":"Ensembl ENSG00000172936","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172936"},{"label":"Ngo et al., Nature 2011: oncogenically active MYD88 mutations in human lymphoma","url":"https://doi.org/10.1038/nature09671"},{"label":"Treon et al., N Engl J Med 2012: MYD88 L265P somatic mutation in Waldenstrom macroglobulinaemia","url":"https://doi.org/10.1056/NEJMoa1200710"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","breast-cancer","dlbcl","all-leukemia","cll","waldenstrom"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","inflammation-nfkb"],"terms":[],"trials":["nct04274738"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; IntOGen calls it an activating (Act) driver in 10 cohorts; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Lymphoplasmacytic Lymphoma.","Lymphoma, MYD88 L265P and the toll-like receptor arm of NF-kB: MYD88 is the adaptor of the toll-like and interleukin-1 receptors. A single substitution at an invariant residue in the hydrophobic core of its TIR domain, L265P, makes it assemble a signalling complex with IRAK1 and IRAK4 without a receptor signal, driving NF-kB and JAK kinase activity. Activated B-cell-like lymphoma cells carrying it die when MYD88, IRAK1 or IRAK4 are knocked down, and the wild-type protein cannot rescue them, so it is a gain-of-function driver rather than a passenger (Ngo 2011). Frequency: L265P in 29% of activated B-cell-like diffuse large B-cell lymphomas, rare or absent in other subtypes and in Burkitt lymphoma, and present in 9% of MALT lymphomas (Ngo 2011). In Waldenstrom macroglobulinaemia it is close to defining: Sanger sequencing found it in 49 of 54 patients, and in 91% of all lymphoplasmacytic lymphoma including the non-IgM form, while it was absent from paired normal tissue and from healthy donor B cells (Treon 2012). What it changes about treatment: In Waldenstrom macroglobulinaemia the MYD88 and CXCR4 genotype is now part of the first-line conversation, because BTK inhibitor response differs by it. In diffuse large B-cell lymphoma it marks the MCD subtype, which is the group in which BTK inhibition added to chemoimmunotherapy has shown activity in subgroup analyses, but no licensed regimen is selected on the mutation."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYD88","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7562","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7562","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99836","url":"https://www.uniprot.org/uniprotkb/Q99836/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MYD88","url":"https://civicdb.org/features/3742","note":"5 evidence items, 0 assertions, 2 variants; diseases: Lymphoplasmacytic Lymphoma, Breast Cancer, Diffuse Large B-cell Lymphoma, Chronic Lymphocytic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000172936","url":"https://platform.opentargets.org/target/ENSG00000172936/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.70, diffuse large B-cell lymphoma 0.72, B-cell chronic lymphocytic leukaemia 0.70, non-Hodgkin lymphoma 0.83, Waldenstrom macroglobulinemia 0.50, breast cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen MYD88","url":"https://www.intogen.org/search?gene=MYD88","note":"driver in 10 cohorts (Act 10, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA MYD88: RNA low tissue specificity; high antibody staining in 32 normal tissues; highest cancer staining thyroid cancer (3 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Breast cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (B-cell chronic lymphocytic leukemia, diffuse large B-cell lymphoma, lymphoid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q99836","url":"https://www.uniprot.org/uniprotkb/Q99836/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MYD88","url":"https://civicdb.org/features/3742","note":"5 evidence items, 0 assertions, 2 variants; diseases: Lymphoplasmacytic Lymphoma, Breast Cancer, Diffuse Large B-cell Lymphoma, Chronic Lymphocytic Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen MYD88","url":"https://www.intogen.org/search?gene=MYD88","note":"driver in 10 cohorts (Act 10, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas MYD88 tissue","url":"https://www.proteinatlas.org/ENSG00000172936-MYD88/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000172936 associations","url":"https://platform.opentargets.org/target/ENSG00000172936/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7562","ensembl":"ENSG00000172936","uniprot":"Q99836","entrez":"4615","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hardiman et al, Oncogene, 1996, \"Molecular characterization and modular analysis of human MyD88\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8957090/","biology":"Adapter protein involved in the Toll-like receptor and IL-1 receptor signalling pathway in the innate immune response. Acts via IRAK1, IRAK2, IRF7 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response. Increases IL-8 transcription. Involved in IL-18-mediated signalling pathway. Activates IRF1 resulting in its rapid migration into the nucleus to mediate an efficient induction of IFN-beta, NOS2/INOS, and IL12A genes. Upon TLR8 activation by GU-rich single-stranded RNA (GU-rich RNA) derived from viruses such as SARS-CoV-2, SARS-CoV and HIV-1, induces IL1B release through NLRP3 inflammasome activation. Location: Cytoplasm; Nucleus (UniProt). Locus 3p22.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.83 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Leukaemia: Open Targets association 0.74 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Diffuse large B-cell lymphoma: Open Targets association 0.72 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Acute lymphoblastic leukaemia: Open Targets association 0.70 with acute lymphoblastic leukaemia (MONDO_0004967)","Chronic lymphocytic leukaemia: Open Targets association 0.70 with B-cell chronic lymphocytic leukaemia (MONDO_0004948); CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},{"id":"myeov","kind":"target","name":"MYEOV","aka":["myeloma overexpressed","Myeloma-overexpressed gene protein"],"tldr":"MYEOV (Myeloma-overexpressed gene protein) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer.","summary":"UniProt has no function text for Q96EZ4; HGNC names it \"myeloma overexpressed\".\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.62, somatic mutation 0.23). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7563","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7563"},{"label":"UniProt Q96EZ4","url":"https://www.uniprot.org/uniprotkb/Q96EZ4/entry"},{"label":"NCBI Gene 26579","url":"https://www.ncbi.nlm.nih.gov/gene/26579"},{"label":"Ensembl ENSG00000172927","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172927"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYEOV","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7563","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7563","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96EZ4","url":"https://www.uniprot.org/uniprotkb/Q96EZ4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172927","url":"https://platform.opentargets.org/target/ENSG00000172927/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"},{"label":"IntOGen MYEOV","url":"https://www.intogen.org/search?gene=MYEOV","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7563","ensembl":"ENSG00000172927","uniprot":"Q96EZ4","entrez":"26579","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Janssen J.W.G. et al, Blood, 2000, \"Concurrent activation of a novel putative transforming gene, myeov, and cyclin D1 in a subset of multiple myeloma cell lines with t(11;14)(q13;q32)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10753852/","biology":"UniProt has no function text for Q96EZ4; HGNC names it \"myeloma overexpressed\". Locus 11q13.3 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"myh11","kind":"target","name":"MYH11","aka":["myosin heavy chain 11","Myosin-11","SMMHC","SMMS-1"],"tldr":"MYH11 (Myosin-11) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Breast cancer, Head and neck squamous cell carcinoma and 5 more.","summary":"Muscle contraction.\n\nIntOGen calls it a driver in 10 cohorts (5 activating, 5 loss-of-function), covering Acute Myeloid Leukaemia, Invasive Breast Carcinoma, Cholangiocarcinoma, Head and Neck Squamous Cell Carcinoma, Low-Grade Glioma, NOS, Melanoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7569","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569"},{"label":"UniProt P35749","url":"https://www.uniprot.org/uniprotkb/P35749/entry"},{"label":"NCBI Gene 4629","url":"https://www.ncbi.nlm.nih.gov/gene/4629"},{"label":"Ensembl ENSG00000133392","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000133392"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate","breast-cancer","head-and-neck","nasopharyngeal","sarcoma","aml","cholangiocarcinoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYH11","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7569","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7569","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35749","url":"https://www.uniprot.org/uniprotkb/P35749/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MYH11","url":"https://www.intogen.org/search?gene=MYH11","note":"driver in 10 cohorts (Act 5, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7569","ensembl":"ENSG00000133392","uniprot":"P35749","entrez":"4629","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Okajima, 1992.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P35749/entry","biology":"Muscle contraction. Location: Melanosome (UniProt). Locus 16p13.11 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 2 cohorts (PRAD, PROSTATE)","Breast cancer: IntOGen driver in 1 cohort (BRCA)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Sarcomas: IntOGen driver in 1 cohort (SOFT_TISSUE)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"myh9","kind":"target","name":"MYH9","aka":["myosin heavy chain 9","Myosin-9","NMMHCA","NMHC-II-A","EPSTS","DFNA17"],"tldr":"MYH9 (Myosin-9) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Head and neck squamous cell carcinoma, Breast cancer, Colorectal cancer and 5 more.","summary":"Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialised functions such as secretion and capping. Required for cortical actin clearance prior to oocyte exocytosis. Promotes cell motility in conjunction with S100A4.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes affected pathway 0.57, literature 0.99, genetic association 0.00, somatic mutation 0.88, animal model 0.59). IntOGen calls it a driver in 11 cohorts (3 activating, 8 loss-of-function), covering Basal Cell Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7579","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7579"},{"label":"UniProt P35579","url":"https://www.uniprot.org/uniprotkb/P35579/entry"},{"label":"NCBI Gene 4627","url":"https://www.ncbi.nlm.nih.gov/gene/4627"},{"label":"Ensembl ENSG00000100345","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100345"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["head-and-neck","breast-cancer","colorectal","gastric","ovarian","urothelial","esophageal","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 8 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYH9","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7579","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7579","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35579","url":"https://www.uniprot.org/uniprotkb/P35579/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100345","url":"https://platform.opentargets.org/target/ENSG00000100345/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.54, gastric cancer 0.54, ovarian cancer 0.54, melanoma 0.55, skin cancer 0.54, breast cancer 0.59 (GraphQL API, CC0)"},{"label":"IntOGen MYH9","url":"https://www.intogen.org/search?gene=MYH9","note":"driver in 11 cohorts (Act 3, LoF 8); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7579","ensembl":"ENSG00000100345","uniprot":"P35579","entrez":"4627","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Saez C.G. et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylylation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1967836/","biology":"Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialised functions such as secretion and capping. Required for cortical actin clearance prior to oocyte exocytosis. Promotes cell motility in conjunction with S100A4. During cell spreading, plays an important role in cytoskeleton reorganisation, focal contact formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonised by MYH10. Location: Cytoplasm, cytoskeleton; Cytoplasm, cell cortex; Cytoplasmic vesicle, secretory vesicle, Cortical granule; Cell membrane (UniProt). Locus 22q12.3 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: IntOGen driver in 2 cohorts (HNSC)","Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.54 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STOMACH)","Ovarian cancer: Open Targets association 0.54 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"myo18a","kind":"target","name":"MYO18A","aka":["myosin XVIIIA","Putative TGFB1-induced anti-apoptotic factor 1","KIAA0216","MysPDZ","TIAF1"],"tldr":"MYO18A (Putative TGFB1-induced anti-apoptotic factor 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia.","summary":"Inhibits the cytotoxic effects of TNF and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1. Involved in TGF-beta1 inhibition of IkappaB-alpha expression and suppression of TNF-mediated IkappaB-alpha degradation.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.63, affected pathway 0.97, genetic association 0.00, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:31104","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31104"},{"label":"UniProt O95411","url":"https://www.uniprot.org/uniprotkb/O95411/entry"},{"label":"NCBI Gene 399687","url":"https://www.ncbi.nlm.nih.gov/gene/399687"},{"label":"Ensembl ENSG00000196535","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196535"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYO18A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:31104","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31104","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95411","url":"https://www.uniprot.org/uniprotkb/O95411/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196535","url":"https://platform.opentargets.org/target/ENSG00000196535/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: leukaemia 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:31104","ensembl":"ENSG00000196535","uniprot":"O95411","entrez":"399687","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chang N.-S. et al, Biochem. Biophys. Res. Commun, 1998, \"Cloning and characterization of a novel transforming growth factor-beta1-induced TIAF1 protein that inhibits tumor necrosis factor cytotoxicity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9918798/","biology":"Inhibits the cytotoxic effects of TNF and overexpressed TNF receptor adapters TRADD, FADD, and RIPK1. Involved in TGF-beta1 inhibition of IkappaB-alpha expression and suppression of TNF-mediated IkappaB-alpha degradation. Location: Nucleus (UniProt). Locus 17q11.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)"],"targetClass":"other","prevalence":[]},{"id":"myo5a","kind":"target","name":"MYO5A","aka":["myosin VA","Unconventional myosin-Va","MYO5","GS1","MYR12","MYH12"],"tldr":"MYO5A (Unconventional myosin-Va) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Hepatocellular carcinoma, Lung cancer and 1 more.","summary":"Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyse ATP in the presence of actin, which is essential for its function as a motor protein. Involved in melanosome transport.\n\nIntOGen calls it a driver in 4 cohorts (2 activating, 1 loss-of-function), covering Invasive Breast Carcinoma, Hepatocellular Carcinoma, Lung, Neuroblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7602","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7602"},{"label":"UniProt Q9Y4I1","url":"https://www.uniprot.org/uniprotkb/Q9Y4I1/entry"},{"label":"NCBI Gene 4644","url":"https://www.ncbi.nlm.nih.gov/gene/4644"},{"label":"Ensembl ENSG00000197535","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197535"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer","hcc","lung-cancer","neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYO5A","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7602","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7602","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y4I1","url":"https://www.uniprot.org/uniprotkb/Q9Y4I1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen MYO5A","url":"https://www.intogen.org/search?gene=MYO5A","note":"driver in 4 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7602","ensembl":"ENSG00000197535","uniprot":"Q9Y4I1","entrez":"4644","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Engle L.J. et al, Genomics, 1994, \"Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8188282/","biology":"Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Can hydrolyse ATP in the presence of actin, which is essential for its function as a motor protein. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarisation process involved in dendrite formation. Locus 15q21.2 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Lung cancer: IntOGen driver in 1 cohort (LUNG)","Neuroblastoma: IntOGen driver in 1 cohort (NBL)"],"targetClass":"oncogene","prevalence":[]},{"id":"myod1","kind":"target","name":"MYOD1","aka":["myogenic differentiation 1","Myoblast determination protein 1","bHLHc1","MYF3"],"tldr":"MYOD1 (Myoblast determination protein 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas, Colorectal cancer and Rhabdomyosarcoma.","summary":"Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts.\n\nCIViC holds 11 clinical evidence items and 1 assertion across 1 variant. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.87, affected pathway 0.43, genetic association 0.35, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7611","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7611"},{"label":"UniProt P15172","url":"https://www.uniprot.org/uniprotkb/P15172/entry"},{"label":"NCBI Gene 4654","url":"https://www.ncbi.nlm.nih.gov/gene/4654"},{"label":"Ensembl ENSG00000129152","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129152"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["sarcoma","colorectal","rhabdomyosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 11 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Spindle Cell Rhabdomyosarcoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYOD1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7611","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7611","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15172","url":"https://www.uniprot.org/uniprotkb/P15172/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene MYOD1","url":"https://civicdb.org/features/3777","note":"11 evidence items, 1 assertions, 1 variants; diseases: Spindle Cell Rhabdomyosarcoma, Rhabdomyosarcoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000129152","url":"https://platform.opentargets.org/target/ENSG00000129152/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.53, sarcoma 0.60, rhabdomyosarcoma 0.57 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA MYOD1: RNA tissue enriched (skeletal muscle 34 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas MYOD1 tissue","url":"https://www.proteinatlas.org/ENSG00000129152-MYOD1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000129152 associations","url":"https://platform.opentargets.org/target/ENSG00000129152/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7611","ensembl":"ENSG00000129152","uniprot":"P15172","entrez":"4654","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Braun et al, EMBO J, 1989, \"Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2583111/","biology":"Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYF5 and MYOG, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Interacts with and is inhibited by the twist protein. This interaction probably involves the basic domains of both proteins. Location: Nucleus (UniProt). Locus 11p15.1 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.60 with sarcoma (MONDO_0005089)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Rhabdomyosarcoma: Open Targets association 0.57 with rhabdomyosarcoma (MONDO_0005212); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"mysm1","kind":"target","name":"MYSM1","aka":["Myb like, SWIRM and MPN domains 1","Deubiquitinase MYSM1","KIAA1915"],"tldr":"MYSM1 (Deubiquitinase MYSM1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Myelodysplastic syndromes / neoplasms.","summary":"Metalloprotease with deubiquitinase activity that plays important regulator roles in haematopoietic stem cell function, blood cell production and immune response. Participates in the normal programming of B-cell responses to antigen after the maturation process. Within the cytoplasm, plays critical roles in the repression of innate immunity and autoimmunity.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29401","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29401"},{"label":"UniProt Q5VVJ2","url":"https://www.uniprot.org/uniprotkb/Q5VVJ2/entry"},{"label":"NCBI Gene 114803","url":"https://www.ncbi.nlm.nih.gov/gene/114803"},{"label":"Ensembl ENSG00000162601","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162601"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["mds"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"MYSM1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:29401","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29401","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5VVJ2","url":"https://www.uniprot.org/uniprotkb/Q5VVJ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000162601","url":"https://platform.opentargets.org/target/ENSG00000162601/associations","note":"per-cancer scores at or above 0.5: myelodysplastic syndrome 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:29401","ensembl":"ENSG00000162601","uniprot":"Q5VVJ2","entrez":"114803","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11572484/","biology":"Metalloprotease with deubiquitinase activity that plays important regulator roles in haematopoietic stem cell function, blood cell production and immune response. Participates in the normal programming of B-cell responses to antigen after the maturation process. Within the cytoplasm, plays critical roles in the repression of innate immunity and autoimmunity. Removes 'Lys-63'-linked polyubiquitins from TRAF3 and TRAF6 complexes. Attenuates NOD2-mediated inflammation and tissue injury by promoting 'Lys-63'-linked deubiquitination of RIPK2 component. Suppresses the CGAS-STING1 signalling pathway by cleaving STING1 'Lys-63'-linked ubiquitin chains. Location: Nucleus; Cytoplasm (UniProt). Locus 1p32.1 (HGNC).","whereFound":["Myelodysplastic syndromes / neoplasms: Open Targets association 0.56 with myelodysplastic syndrome (MONDO_0018881)"],"targetClass":"transcription","prevalence":[]},{"id":"n4bp2","kind":"target","name":"N4BP2","aka":["NEDD4 binding protein 2","NEDD4-binding protein 2","B3BP"],"tldr":"N4BP2 (NEDD4-binding protein 2) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Bladder & urothelial cancer and Biliary tract cancer.","summary":"Has 5'-polynucleotide kinase and nicking endonuclease activity. May play a role in DNA repair or recombination. May play a role in the non-stop mRNA decay pathway (NSD), which specifically targets and degrades mRNAs that lack a proper stop codon.\n\nIntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Cholangiocarcinoma, Hepatocellular Carcinoma, Upper Tract Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29851","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29851"},{"label":"UniProt Q86UW6","url":"https://www.uniprot.org/uniprotkb/Q86UW6/entry"},{"label":"NCBI Gene 55728","url":"https://www.ncbi.nlm.nih.gov/gene/55728"},{"label":"Ensembl ENSG00000078177","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000078177"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["hcc","urothelial","cholangiocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"N4BP2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:29851","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29851","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86UW6","url":"https://www.uniprot.org/uniprotkb/Q86UW6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen N4BP2","url":"https://www.intogen.org/search?gene=N4BP2","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:29851","ensembl":"ENSG00000078177","uniprot":"Q86UW6","entrez":"55728","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10718198/","biology":"Has 5'-polynucleotide kinase and nicking endonuclease activity. May play a role in DNA repair or recombination. May play a role in the non-stop mRNA decay pathway (NSD), which specifically targets and degrades mRNAs that lack a proper stop codon. Location: Cytoplasm (UniProt). Locus 4p14 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)","Biliary tract cancer: IntOGen driver in 1 cohort (CHOL)"],"targetClass":"enzyme","prevalence":[]},{"id":"nab2","kind":"target","name":"NAB2","aka":["NGFI-A binding protein 2","NGFI-A-binding protein 2","MADER"],"tldr":"NAB2 (NGFI-A-binding protein 2) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. Isoform 2 lacks repression ability.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.54, genetic association 0.00, somatic mutation 0.89).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7627","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7627"},{"label":"UniProt Q15742","url":"https://www.uniprot.org/uniprotkb/Q15742/entry"},{"label":"NCBI Gene 4665","url":"https://www.ncbi.nlm.nih.gov/gene/4665"},{"label":"Ensembl ENSG00000166886","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166886"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NAB2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7627","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7627","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15742","url":"https://www.uniprot.org/uniprotkb/Q15742/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000166886","url":"https://platform.opentargets.org/target/ENSG00000166886/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7627","ensembl":"ENSG00000166886","uniprot":"Q15742","entrez":"4665","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Svaren et al, Mol. Cell. Biol, 1996, \"NAB2, a corepressor of NGFI-A (Egr-1) and Krox20, is induced by proliferative and differentiative stimuli\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8668170/","biology":"Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2. Isoform 2 lacks repression ability. Location: Nucleus (UniProt). Locus 12q13.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"naca","kind":"target","name":"NACA","aka":["nascent polypeptide associated complex subunit alpha","Nascent polypeptide-associated complex subunit alpha, muscle-specific form","NACA1","Alpha-NAC"],"tldr":"NACA (Nascent polypeptide-associated complex subunit alpha, muscle-specific form) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Melanoma and Basal cell carcinoma.","summary":"Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth and regeneration.\n\nIntOGen calls it a driver in 4 cohorts (2 activating, 0 loss-of-function), covering Basal Cell Carcinoma, Bladder Urothelial Carcinoma, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7629","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7629"},{"label":"UniProt E9PAV3","url":"https://www.uniprot.org/uniprotkb/E9PAV3/entry"},{"label":"NCBI Gene 4666","url":"https://www.ncbi.nlm.nih.gov/gene/4666"},{"label":"Ensembl ENSG00000196531","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196531"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["urothelial","melanoma","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NACA","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7629","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7629","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt E9PAV3","url":"https://www.uniprot.org/uniprotkb/E9PAV3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NACA","url":"https://www.intogen.org/search?gene=NACA","note":"driver in 4 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7629","ensembl":"ENSG00000196531","uniprot":"E9PAV3","entrez":"4666","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Cardiac- and muscle-specific transcription factor. May act to regulate the expression of genes involved in the development of myotubes. Plays a critical role in ventricular cardiomyocyte expansion and regulates postnatal skeletal muscle growth and regeneration. Involved in the organised assembly of thick and thin filaments of myofibril sarcomeres. Location: Cytoplasm; Nucleus (UniProt). Locus 12q13.3 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Melanoma: IntOGen driver in 2 cohorts (MEL)","Basal cell carcinoma: IntOGen driver in 1 cohort (BCC)"],"targetClass":"oncogene","prevalence":[]},{"id":"naf1","kind":"target","name":"NAF1","aka":["nuclear assembly factor 1 ribonucleoprotein","H/ACA ribonucleoprotein complex non-core subunit NAF1"],"tldr":"NAF1 (H/ACA ribonucleoprotein complex non-core subunit NAF1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.43, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25126"},{"label":"UniProt Q96HR8","url":"https://www.uniprot.org/uniprotkb/Q96HR8/entry"},{"label":"NCBI Gene 92345","url":"https://www.ncbi.nlm.nih.gov/gene/92345"},{"label":"Ensembl ENSG00000145414","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145414"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NAF1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:25126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25126","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96HR8","url":"https://www.uniprot.org/uniprotkb/Q96HR8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000145414","url":"https://platform.opentargets.org/target/ENSG00000145414/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:25126","ensembl":"ENSG00000145414","uniprot":"Q96HR8","entrez":"92345","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"RNA-binding protein required for the maturation of box H/ACA snoRNPs complex and ribosome biogenesis. During assembly of the H/ACA snoRNPs complex, it associates with the complex and disappears during maturation of the complex and is replaced by NOLA1/GAR1 to yield mature H/ACA snoRNPs complex. Probably competes with NOLA1/GAR1 for binding with DKC1/NOLA4. Location: Cytoplasm; Nucleus (UniProt). Locus 4q32.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"naprt","kind":"target","name":"NAPRT","aka":["nicotinate phosphoribosyltransferase","Nicotinate phosphoribosyltransferase","PP3856","NAPRT1"],"tldr":"NAPRT (Nicotinate phosphoribosyltransferase) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Catalyses the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D-ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate. Helps prevent cellular oxidative stress via its role in NAD biosynthesis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming GNE-617.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30450","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30450"},{"label":"UniProt Q6XQN6","url":"https://www.uniprot.org/uniprotkb/Q6XQN6/entry"},{"label":"NCBI Gene 93100","url":"https://www.ncbi.nlm.nih.gov/gene/93100"},{"label":"Ensembl ENSG00000147813","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147813"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NAPRT","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:30450","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30450","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6XQN6","url":"https://www.uniprot.org/uniprotkb/Q6XQN6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NAPRT","url":"https://civicdb.org/features/17016","note":"1 evidence items, 0 assertions, 1 variants; diseases: Cancer (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA NAPRT: RNA tissue enhanced (liver 103 nTPM); high antibody staining in 5 normal tissues; highest cancer staining ovarian cancer (3 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas NAPRT tissue","url":"https://www.proteinatlas.org/ENSG00000147813-NAPRT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147813 associations","url":"https://platform.opentargets.org/target/ENSG00000147813/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:30450","ensembl":"ENSG00000147813","uniprot":"Q6XQN6","entrez":"93100","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Huang C.-H. et al, 2003, \"Identification of nicotinate phosphoribosyltransferase as a novel FHA-HIT interaction protein (FHIP)\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q6XQN6/entry","biology":"Catalyses the first step in the biosynthesis of NAD from nicotinic acid, the ATP-dependent synthesis of beta-nicotinate D-ribonucleotide from nicotinate and 5-phospho-D-ribose 1-phosphate. Helps prevent cellular oxidative stress via its role in NAD biosynthesis. Location: Cytoplasm, cytosol (UniProt). Locus 8q24.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"nbea","kind":"target","name":"NBEA","aka":["neurobeachin","Neurobeachin","KIAA1544","BCL8B","FLJ10197","LYST2"],"tldr":"NBEA (Neurobeachin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Breast cancer, Colorectal cancer and 5 more.","summary":"Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.16, animal model 0.41, genetic association 0.62, somatic mutation 0.74). IntOGen calls it a driver in 14 cohorts (6 activating, 8 loss-of-function), covering Invasive Breast Carcinoma, Cervical Adenocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7648","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7648"},{"label":"UniProt Q8NFP9","url":"https://www.uniprot.org/uniprotkb/Q8NFP9/entry"},{"label":"NCBI Gene 26960","url":"https://www.ncbi.nlm.nih.gov/gene/26960"},{"label":"Ensembl ENSG00000172915","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172915"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","breast-cancer","colorectal","ovarian","cervical","esophageal","gastric","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 6 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 8 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NBEA","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7648","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7648","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NFP9","url":"https://www.uniprot.org/uniprotkb/Q8NFP9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172915","url":"https://platform.opentargets.org/target/ENSG00000172915/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: ovarian cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen NBEA","url":"https://www.intogen.org/search?gene=NBEA","note":"driver in 14 cohorts (Act 6, LoF 8); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7648","ensembl":"ENSG00000172915","uniprot":"Q8NFP9","entrez":"26960","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tchernev V.T. et al, 1998, \"Identification of LYST2, a brain-specific member of the Chediak-Higashi syndrome gene family\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8NFP9/entry","biology":"Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins. Location: Cytoplasm; Membrane (UniProt). Locus 13q13.3 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 3 cohorts (HCC)","Breast cancer: IntOGen driver in 2 cohorts (BRCA)","Colorectal cancer: IntOGen driver in 2 cohorts (COAD, COADREAD)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Cervical cancer: IntOGen driver in 1 cohort (CEAD)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nbn","kind":"target","name":"NBN","aka":["nibrin","Nibrin","AT-V2","AT-V1","NBS1"],"tldr":"NBN (Nibrin) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 5 more.","summary":"Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Olaparib and GPI-15427. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.87, literature 0.95, genetic association 0.78, somatic mutation 0.83, animal model 0.50).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7652","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7652"},{"label":"UniProt O60934","url":"https://www.uniprot.org/uniprotkb/O60934/entry"},{"label":"NCBI Gene 4683","url":"https://www.ncbi.nlm.nih.gov/gene/4683"},{"label":"Ensembl ENSG00000104320","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104320"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["non-hodgkin-lymphoma","leukaemia","breast-cancer","ovarian","gastric","head-and-neck","sarcoma","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NBN","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7652","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7652","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60934","url":"https://www.uniprot.org/uniprotkb/O60934/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NBN","url":"https://civicdb.org/features/3801","note":"2 evidence items, 0 assertions, 2 variants; diseases: Ovarian Cancer, Head And Neck Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000104320","url":"https://platform.opentargets.org/target/ENSG00000104320/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: colorectal cancer 0.53, gastric cancer 0.65, prostate cancer 0.55, ovarian cancer 0.67, sarcoma 0.59, acute lymphoblastic leukaemia 0.72 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Nijmegen breakage syndrome (NBS) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA NBN: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining breast cancer (12 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Breast cancer (all types), Ovarian cancer, Gastric & gastro-oesophageal junction cancer, Head and neck squamous cell carcinoma, Sarcomas (soft tissue, bone, GIST) and more); Open Targets associates it with 7 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, breast cancer, hereditary neoplastic syndrome, hereditary breast ovarian cancer syndrome, glioma, gastric cancer and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O60934","url":"https://www.uniprot.org/uniprotkb/O60934/entry","note":"involvement in disease"},{"label":"Human Protein Atlas NBN tissue","url":"https://www.proteinatlas.org/ENSG00000104320-NBN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000104320 associations","url":"https://platform.opentargets.org/target/ENSG00000104320/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7652","ensembl":"ENSG00000104320","uniprot":"O60934","entrez":"4683","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Varon et al, Cell, 1998, \"Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9590180/","biology":"Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage. The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination. Within the MRN complex, NBN acts as a protein-protein adapter, which specifically recognises and binds phosphorylated proteins, promoting their recruitment to DNA damage sites. Recruits MRE11 and RAD50 components of the MRN complex to DSBs in response to DNA damage. Location: Nucleus; Chromosome; Nucleus, PML body; Chromosome, telomere (UniProt). Locus 8q21.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.76 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.72 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.72 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.67 with ovarian cancer (MONDO_0008170); CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.65 with gastric cancer (MONDO_0001056)","Head and neck squamous cell carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ncaph","kind":"target","name":"NCAPH","aka":["non-SMC condensin I complex subunit H","Condensin complex subunit 2","CAP-H","hCAP-H","NCAPH1","BRRN1"],"tldr":"NCAPH (Condensin complex subunit 2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1112","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1112"},{"label":"UniProt Q15003","url":"https://www.uniprot.org/uniprotkb/Q15003/entry"},{"label":"NCBI Gene 23397","url":"https://www.ncbi.nlm.nih.gov/gene/23397"},{"label":"Ensembl ENSG00000121152","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121152"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NCAPH","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1112","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1112","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15003","url":"https://www.uniprot.org/uniprotkb/Q15003/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NCAPH","url":"https://www.intogen.org/search?gene=NCAPH","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1112","ensembl":"ENSG00000121152","uniprot":"Q15003","entrez":"23397","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584044/","biology":"Regulatory subunit of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases. Early in neurogenesis, may play an essential role to ensure accurate mitotic chromosome condensation in neuron stem cells, ultimately affecting neuron pool and cortex size. Location: Nucleus; Cytoplasm; Chromosome (UniProt). Locus 2q11.2 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"nckipsd","kind":"target","name":"NCKIPSD","aka":["NCK interacting protein with SH3 domain","NCK-interacting protein with SH3 domain","AF3P21","SPIN90","ORF1","WASLBP","DIP1"],"tldr":"NCKIPSD (NCK-interacting protein with SH3 domain) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Endometrial cancer.","summary":"Has an important role in stress fibre formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo. In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15486","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15486"},{"label":"UniProt Q9NZQ3","url":"https://www.uniprot.org/uniprotkb/Q9NZQ3/entry"},{"label":"NCBI Gene 51517","url":"https://www.ncbi.nlm.nih.gov/gene/51517"},{"label":"Ensembl ENSG00000213672","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000213672"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NCKIPSD","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:15486","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15486","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZQ3","url":"https://www.uniprot.org/uniprotkb/Q9NZQ3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NCKIPSD","url":"https://www.intogen.org/search?gene=NCKIPSD","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:15486","ensembl":"ENSG00000213672","uniprot":"Q9NZQ3","entrez":"51517","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sano et al, Blood, 2000, \"Novel SH3 protein encoded by the AF3p21 gene is fused to the mixed lineage leukemia protein in a therapy-related leukemia with t(3;11)(p21;q23)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10648423/","biology":"Has an important role in stress fibre formation induced by active diaphanous protein homolog 1 (DRF1). Induces microspike formation, in vivo. In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42. May play an important role in the maintenance of sarcomeres and/or in the assembly of myofibrils into sarcomeres. Implicated in regulation of actin polymerisation and cell adhesion. Plays a role in angiogenesis. Location: Nucleus (UniProt). Locus 3p21.31 (HGNC).","whereFound":["Endometrial cancer: IntOGen driver in 1 cohort (UCEC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ncoa1","kind":"target","name":"NCOA1","aka":["nuclear receptor coactivator 1","Nuclear receptor coactivator 1","SRC1","F-SRC-1","NCoA-1","KAT13A","RIP160","bHLHe74"],"tldr":"NCOA1 (Nuclear receptor coactivator 1) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma.","summary":"Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Involved in the coactivation of different nuclear receptors, such as for steroids (PGR, GR and ER), retinoids (RXRs), thyroid hormone (TRs) and prostanoids (PPARs). Also involved in coactivation mediated by STAT3, STAT5A, STAT5B and STAT6 transcription factors.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.98, animal model 0.44, genetic association 0.47, somatic mutation 0.59). IntOGen calls it a driver in 1 cohort (0 activating, 0 loss-of-function), covering Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7668","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7668"},{"label":"UniProt Q15788","url":"https://www.uniprot.org/uniprotkb/Q15788/entry"},{"label":"NCBI Gene 8648","url":"https://www.ncbi.nlm.nih.gov/gene/8648"},{"label":"Ensembl ENSG00000084676","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000084676"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NCOA1","role":["fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7668","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7668","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15788","url":"https://www.uniprot.org/uniprotkb/Q15788/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000084676","url":"https://platform.opentargets.org/target/ENSG00000084676/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"},{"label":"IntOGen NCOA1","url":"https://www.intogen.org/search?gene=NCOA1","note":"driver in 1 cohort (Act 0, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7668","ensembl":"ENSG00000084676","uniprot":"Q15788","entrez":"8648","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Onate S.A. et al, Science, 1995, \"Sequence and characterization of a coactivator for the steroid hormone receptor superfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7481822/","biology":"Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Involved in the coactivation of different nuclear receptors, such as for steroids (PGR, GR and ER), retinoids (RXRs), thyroid hormone (TRs) and prostanoids (PPARs). Also involved in coactivation mediated by STAT3, STAT5A, STAT5B and STAT6 transcription factors. Displays histone acetyltransferase activity toward H3 and H4; the relevance of such activity remains however unclear. Plays a central role in creating multisubunit coactivator complexes that act via remodeling of chromatin, and possibly acts by participating in both chromatin remodeling and recruitment of general transcription factors. Required with NCOA2 to control energy balance between white and brown adipose tissues. Location: Nucleus (UniProt). Locus 2p23.3 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"transcription","prevalence":[]},{"id":"ncoa2","kind":"target","name":"NCOA2","aka":["nuclear receptor coactivator 2","Nuclear receptor coactivator 2","SRC-2","TIF2","GRIP1","NCoA-2","KAT13C","bHLHe75"],"tldr":"NCOA2 (Nuclear receptor coactivator 2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Oesophageal cancer, Gastric & gastro-oesophageal junction cancer, Lung cancer and 5 more.","summary":"Transcriptional coactivator for steroid receptors and nuclear receptors. Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1). Required with NCOA1 to control energy balance between white and brown adipose tissues.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.39, somatic mutation 0.85). IntOGen calls it a driver in 4 cohorts (2 activating, 2 loss-of-function), covering Oesophageal Adenocarcinoma, Lung Adenocarcinoma, Lung Squamous Cell Carcinoma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7669","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7669"},{"label":"UniProt Q15596","url":"https://www.uniprot.org/uniprotkb/Q15596/entry"},{"label":"NCBI Gene 10499","url":"https://www.ncbi.nlm.nih.gov/gene/10499"},{"label":"Ensembl ENSG00000140396","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140396"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["esophageal","gastric","lung-cancer","breast-cancer","sarcoma","prostate","nsclc","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NCOA2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7669","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7669","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15596","url":"https://www.uniprot.org/uniprotkb/Q15596/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140396","url":"https://platform.opentargets.org/target/ENSG00000140396/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: oesophageal cancer 0.51, prostate cancer 0.52, sarcoma 0.56, breast cancer 0.56, lung cancer 0.57, chondrosarcoma 0.51 (GraphQL API, CC0)"},{"label":"IntOGen NCOA2","url":"https://www.intogen.org/search?gene=NCOA2","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7669","ensembl":"ENSG00000140396","uniprot":"Q15596","entrez":"10499","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Voegel J.J. et al, EMBO J, 1996, \"TIF2, a 160 kDa transcriptional mediator for the ligand-dependent activation function AF-2 of nuclear receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8670870/","biology":"Transcriptional coactivator for steroid receptors and nuclear receptors. Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1). Required with NCOA1 to control energy balance between white and brown adipose tissues. Critical regulator of glucose metabolism regulation, acts as a RORA coactivator to specifically modulate G6PC1 expression. Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3. Positively regulates the circadian clock by acting as a transcriptional coactivator for the CLOCK-BMAL1 heterodimer. Location: Nucleus (UniProt). Locus 8q13.3 (HGNC).","whereFound":["Oesophageal cancer: Open Targets association 0.51 with oesophageal cancer (MONDO_0007576); IntOGen driver in 1 cohort (ESCA)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)","Lung cancer: Open Targets association 0.57 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Sarcomas: Open Targets association 0.56 with sarcoma (MONDO_0005089)","Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315)"],"targetClass":"transcription","prevalence":[]},{"id":"ncoa3","kind":"target","name":"NCOA3","aka":["nuclear receptor coactivator 3","Nuclear receptor coactivator 3","RAC3","AIB1","p/CIP","TRAM-1","CAGH16","TNRC16","KAT13B","bHLHe42","SRC-3","SRC3"],"tldr":"NCOA3 (Nuclear receptor coactivator 3) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer and Colorectal cancer.","summary":"Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs).\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants, naming PD-1 Ligand Inhibitor and Anti-PDL1 Therapy.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7670","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7670"},{"label":"UniProt Q9Y6Q9","url":"https://www.uniprot.org/uniprotkb/Q9Y6Q9/entry"},{"label":"NCBI Gene 8202","url":"https://www.ncbi.nlm.nih.gov/gene/8202"},{"label":"Ensembl ENSG00000124151","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124151"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NCOA3","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7670","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7670","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6Q9","url":"https://www.uniprot.org/uniprotkb/Q9Y6Q9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NCOA3","url":"https://civicdb.org/features/74","note":"3 evidence items, 0 assertions, 3 variants; diseases: Breast Cancer, Colon Adenocarcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA NCOA3: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining lung cancer (1 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NCOA3 tissue","url":"https://www.proteinatlas.org/ENSG00000124151-NCOA3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000124151 associations","url":"https://platform.opentargets.org/target/ENSG00000124151/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7670","ensembl":"ENSG00000124151","uniprot":"Q9Y6Q9","entrez":"8202","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeshita et al, J. Biol. Chem, 1997, \"TRAM-1, a novel 160-kDa thyroid hormone receptor activator molecule, exhibits distinct properties from steroid receptor coactivator-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9346901/","biology":"Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Displays histone acetyltransferase activity. Also involved in the coactivation of the NF-kappa-B pathway via its interaction with the NFKB1 subunit. Location: Cytoplasm; Nucleus (UniProt). Locus 20q13.12 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","Colorectal cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"ncoa4","kind":"target","name":"NCOA4","aka":["nuclear receptor coactivator 4","Nuclear receptor coactivator 4","ARA70","ELE1","PTC3","DKFZp762E1112"],"tldr":"NCOA4 (Nuclear receptor coactivator 4) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Thyroid cancer.","summary":"Cargo receptor for the autophagic turnover of the iron-binding ferritin complex, playing a central role in iron homeostasis. Acts as an adapter for delivery of ferritin to lysosomes and autophagic degradation of ferritin, a process named ferritinophagy. Targets the iron-binding ferritin complex to autolysosomes following starvation or iron depletion.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.21, somatic mutation 0.94).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7671","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7671"},{"label":"UniProt Q13772","url":"https://www.uniprot.org/uniprotkb/Q13772/entry"},{"label":"NCBI Gene 8031","url":"https://www.ncbi.nlm.nih.gov/gene/8031"},{"label":"Ensembl ENSG00000266412","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000266412"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NCOA4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7671","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7671","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13772","url":"https://www.uniprot.org/uniprotkb/Q13772/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000266412","url":"https://platform.opentargets.org/target/ENSG00000266412/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: thyroid cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7671","ensembl":"ENSG00000266412","uniprot":"Q13772","entrez":"8031","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Santoro et al, Oncogene, 1994, \"Molecular characterization of RET/PTC3; a novel rearranged version of the RETproto-oncogene in a human thyroid papillary carcinoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8290261/","biology":"Cargo receptor for the autophagic turnover of the iron-binding ferritin complex, playing a central role in iron homeostasis. Acts as an adapter for delivery of ferritin to lysosomes and autophagic degradation of ferritin, a process named ferritinophagy. Targets the iron-binding ferritin complex to autolysosomes following starvation or iron depletion. Ensures efficient erythropoiesis, possibly by regulating hemin-induced erythroid differentiation. In some studies, has been shown to enhance the androgen receptor AR transcriptional activity as well as acting as ligand-independent coactivator of the peroxisome proliferator-activated receptor (PPAR) gamma. Another study shows only weak behaviour as a coactivator for the androgen receptor and no alteration of the ligand responsiveness of the AR. Location: Cytoplasmic vesicle, autophagosome; Autolysosome; Nucleus; Chromosome (UniProt). Locus 10q11.22 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.54 with thyroid cancer (MONDO_0002108)"],"targetClass":"transcription","prevalence":[]},{"id":"ncor1","kind":"target","name":"NCOR1","aka":["nuclear receptor corepressor 1","Nuclear receptor corepressor 1","N-CoR","hCIT529I10","TRAC1","hN-CoR","KIAA1047","MGC104216","PPP1R109"],"tldr":"NCOR1 (Nuclear receptor corepressor 1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Prostate cancer, Lung cancer and 5 more.","summary":"Mediates transcriptional repression by certain nuclear receptors. Part of a complex which promotes histone deacetylation and the formation of repressive chromatin structures which may impede the access of basal transcription factors. Participates in the transcriptional repressor activity produced by BCL6.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.23, somatic mutation 0.96). IntOGen calls it a driver in 18 cohorts (3 activating, 15 loss-of-function), covering Acute Lymphoblastic Leukaemia, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cholangiocarcinoma, Diffuse Large B-Cell Lymphoma, NOS, Head and Neck Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7672","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7672"},{"label":"UniProt O75376","url":"https://www.uniprot.org/uniprotkb/O75376/entry"},{"label":"NCBI Gene 9611","url":"https://www.ncbi.nlm.nih.gov/gene/9611"},{"label":"Ensembl ENSG00000141027","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141027"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","prostate","lung-cancer","urothelial","head-and-neck","mesothelioma","skin-cancer","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 15 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NCOR1","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7672","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7672","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75376","url":"https://www.uniprot.org/uniprotkb/O75376/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141027","url":"https://platform.opentargets.org/target/ENSG00000141027/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.55, melanoma 0.52, skin cancer 0.55, breast cancer 0.70, lung cancer 0.59, biliary tract cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen NCOR1","url":"https://www.intogen.org/search?gene=NCOR1","note":"driver in 18 cohorts (Act 3, LoF 15); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7672","ensembl":"ENSG00000141027","uniprot":"O75376","entrez":"9611","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang et al, Proc. Natl. Acad. Sci. U.S.A, 1998, \"ETO, fusion partner in t(8;21) acute myeloid leukemia, represses transcription by interaction with the human N-CoR/mSin3/HDAC1 complex\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9724795/","biology":"Mediates transcriptional repression by certain nuclear receptors. Part of a complex which promotes histone deacetylation and the formation of repressive chromatin structures which may impede the access of basal transcription factors. Participates in the transcriptional repressor activity produced by BCL6. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signalling and androgen-induced cell proliferation. Mediates the NR1D1-dependent repression and circadian regulation of TSHB expression. The NCOR1-HDAC3 complex regulates the circadian expression of the core clock gene ARTNL/BMAL1 and the genes involved in lipid metabolism in the liver. Location: Nucleus (UniProt). Locus 17p12-p11.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.70 with breast cancer (MONDO_0007254); IntOGen driver in 6 cohorts (BRCA)","Prostate cancer: IntOGen driver in 2 cohorts (PRAD, PROSTATE)","Lung cancer: Open Targets association 0.59 with lung cancer (MONDO_0008903)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"transcription","prevalence":[]},{"id":"ncor2","kind":"target","name":"NCOR2","aka":["nuclear receptor corepressor 2","Nuclear receptor corepressor 2","SMRTE","TRAC-1","CTG26","TNRC14"],"tldr":"NCOR2 (Nuclear receptor corepressor 2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Hepatocellular carcinoma, Prostate cancer and 5 more.","summary":"Transcriptional corepressor that mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Acts by recruiting chromatin modifiers, such as histone deacetylases HDAC1, HDAC2 and HDAC3. Required to activate the histone deacetylase activity of HDAC3.\n\nOpen Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes literature 0.90, animal model 0.54, genetic association 0.16, somatic mutation 0.91). IntOGen calls it a driver in 10 cohorts (3 activating, 6 loss-of-function), covering Invasive Breast Carcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma, High-Grade Glioma, NOS, Leiomyosarcoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7673","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7673"},{"label":"UniProt Q9Y618","url":"https://www.uniprot.org/uniprotkb/Q9Y618/entry"},{"label":"NCBI Gene 9612","url":"https://www.ncbi.nlm.nih.gov/gene/9612"},{"label":"Ensembl ENSG00000196498","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196498"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","hcc","prostate","breast-cancer","esophageal","sarcoma","mesothelioma","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: High-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NCOR2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7673","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7673","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y618","url":"https://www.uniprot.org/uniprotkb/Q9Y618/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196498","url":"https://platform.opentargets.org/target/ENSG00000196498/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: colorectal cancer 0.58, prostate cancer 0.52, melanoma 0.53, skin cancer 0.55, breast cancer 0.56, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen NCOR2","url":"https://www.intogen.org/search?gene=NCOR2","note":"driver in 10 cohorts (Act 3, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7673","ensembl":"ENSG00000196498","uniprot":"Q9Y618","entrez":"9612","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen J.D. et al, Nature, 1995, \"A transcriptional co-repressor that interacts with nuclear hormone receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7566127/","biology":"Transcriptional corepressor that mediates the transcriptional repression activity of some nuclear receptors by promoting chromatin condensation, thus preventing access of the basal transcription. Acts by recruiting chromatin modifiers, such as histone deacetylases HDAC1, HDAC2 and HDAC3. Required to activate the histone deacetylase activity of HDAC3. Involved in the regulation BCL6-dependent of the germinal centre (GC) reactions, mainly through the control of the GC B-cells proliferation and survival. Recruited by ZBTB7A to the androgen response elements/ARE on target genes, negatively regulates androgen receptor signalling and androgen-induced cell proliferation. Isoform 1 and isoform 4 have different affinities for different nuclear receptors. Location: Nucleus (UniProt). Locus 12q24.31 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.58 with colorectal cancer (MONDO_0005575); IntOGen driver in 2 cohorts (COADREAD)","Hepatocellular carcinoma: IntOGen driver in 2 cohorts (HCC)","Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315); IntOGen driver in 1 cohort (PRAD)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Sarcomas: IntOGen driver in 1 cohort (LMS)"],"targetClass":"transcription","prevalence":[]},{"id":"ncstn","kind":"target","name":"NCSTN","aka":["nicastrin","Nicastrin","KIAA0253","APH2"],"tldr":"NCSTN (Nicastrin) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.","summary":"Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signalling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17091","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17091"},{"label":"UniProt Q92542","url":"https://www.uniprot.org/uniprotkb/Q92542/entry"},{"label":"NCBI Gene 23385","url":"https://www.ncbi.nlm.nih.gov/gene/23385"},{"label":"Ensembl ENSG00000162736","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162736"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["desmoid-tumour"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.83. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NCSTN","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:17091","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17091","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92542","url":"https://www.uniprot.org/uniprotkb/Q92542/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000162736","url":"https://platform.opentargets.org/target/ENSG00000162736/associations","note":"per-cancer scores at or above 0.5: desmoid tumour 0.50 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA NCSTN: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining melanoma (1 of 9 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (desmoid tumor). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NCSTN tissue","url":"https://www.proteinatlas.org/ENSG00000162736-NCSTN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162736 associations","url":"https://platform.opentargets.org/target/ENSG00000162736/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17091","ensembl":"ENSG00000162736","uniprot":"Q92542","entrez":"23385","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1996, \"Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9039502/","biology":"Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signalling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. Location: Membrane; Cytoplasmic vesicle membrane; Melanosome (UniProt). Locus 1q23.2 (HGNC).","whereFound":["Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)"],"targetClass":"other","prevalence":[]},{"id":"ndrg1","kind":"target","name":"NDRG1","aka":["N-myc downstream regulated 1","DRG1","TDD5","NDR1","CAP43"],"tldr":"NDRG1 (N-myc downstream regulated 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer, Lung cancer, Colorectal cancer and 1 more.","summary":"Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumour suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.99, animal model 0.44, genetic association 0.00, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7679","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7679"},{"label":"UniProt Q92597","url":"https://www.uniprot.org/uniprotkb/Q92597/entry"},{"label":"NCBI Gene 10397","url":"https://www.ncbi.nlm.nih.gov/gene/10397"},{"label":"Ensembl ENSG00000104419","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104419"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","colorectal","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NDRG1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7679","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7679","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92597","url":"https://www.uniprot.org/uniprotkb/Q92597/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104419","url":"https://platform.opentargets.org/target/ENSG00000104419/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: colorectal cancer 0.52, gastric cancer 0.51, breast cancer 0.54, lung cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7679","ensembl":"ENSG00000104419","uniprot":"Q92597","entrez":"10397","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kokame et al, J. Biol. Chem, 1996, \"Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis. GRP78/BiP and novel genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8939898/","biology":"Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumour suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Has a role in cell trafficking, notably of the Schwann cell, and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Location: Cytoplasm, cytosol; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Nucleus; Cell membrane (UniProt). Locus 8q24.22 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)"],"targetClass":"other","prevalence":[]},{"id":"ndufa13","kind":"target","name":"NDUFA13","aka":["NADH:ubiquinone oxidoreductase subunit A13","NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13","CGI-39","CDA016","GRIM-19","GRIM19","B16.6"],"tldr":"NDUFA13 (NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes clinical 0.67, genetic literature 0.61, literature 0.93, genetic association 0.59, animal model 0.38).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17194","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17194"},{"label":"UniProt Q9P0J0","url":"https://www.uniprot.org/uniprotkb/Q9P0J0/entry"},{"label":"NCBI Gene 51079","url":"https://www.ncbi.nlm.nih.gov/gene/51079"},{"label":"Ensembl ENSG00000186010","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186010"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NDUFA13","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17194","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17194","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9P0J0","url":"https://www.uniprot.org/uniprotkb/Q9P0J0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000186010","url":"https://platform.opentargets.org/target/ENSG00000186010/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA lists NDUFA13 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA NDUFA13: RNA low tissue specificity; high antibody staining in 31 normal tissues; highest cancer staining endometrial cancer (6 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NDUFA13 tissue","url":"https://www.proteinatlas.org/ENSG00000186010-NDUFA13/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000186010 associations","url":"https://platform.opentargets.org/target/ENSG00000186010/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17194","ensembl":"ENSG00000186010","uniprot":"Q9P0J0","entrez":"51079","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Angell J.E. et al, J. Biol. Chem, 2000, \"Identification of GRIM-19, a novel cell death-regulatory gene induced by the interferon-beta and retinoic acid combination, using a genetic approach\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10924506/","biology":"Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Involved in the interferon/all-trans-retinoic acid (IFN/RA) induced cell death. This apoptotic activity is inhibited by interaction with viral IRF1. Prevents the transactivation of STAT3 target genes. Location: Mitochondrion inner membrane; Nucleus (UniProt). Locus 19p13.11 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"nectin4","kind":"target","name":"Nectin-4","aka":[],"tldr":"Nectin-4 is an adhesion protein plentiful on bladder cancer cells, used as the docking site for the ADC enfortumab vedotin.","summary":"Nectin-4 is expressed at high levels in urothelial carcinoma and also in breast, lung, and pancreatic cancers. Enfortumab vedotin plus pembrolizumab is first-line standard in advanced urothelial cancer (EV-302). Next-generation Nectin-4 ADCs with topoisomerase-I payloads (MK-3120) and Nectin-4×TROP2 bispecific ADCs (AK146D1, AVZO-103) are in development.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Nectin-4","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Nectin-4"}],"tags":["adc-target"],"related":["nectin-4-expression"],"cancers":["urothelial","tnbc"],"sections":[],"technologies":[],"targets":[],"drugs":["crb-701"],"companies":["emergence-therapeutics","marengo-therapeutics"],"institutions":[],"pathways":[],"terms":[],"trials":["nct07299747"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"NECTIN4","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 4 cell-killing or cell-finding medicines (CRB-701, AK146D1, Enfortumab vedotin and more) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA NECTIN4: RNA group enriched (cervix 41 nTPM, esophagus 96 nTPM, salivary gland 32 nTPM); no normal tissue stained high; highest cancer staining urothelial cancer (3 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Breast cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (urothelial carcinoma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NECTIN4 tissue","url":"https://www.proteinatlas.org/ENSG00000143217-NECTIN4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas NECTIN4 pathology","url":"https://www.proteinatlas.org/ENSG00000143217-NECTIN4/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143217 associations","url":"https://platform.opentargets.org/target/ENSG00000143217/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:19688","ensembl":"ENSG00000143217","uniprot":"Q96NY8","entrez":"81607","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Reymond et al, J. Biol. Chem, 2001, \"Nectin4/PRR4, a new afadin-associated member of the nectin family that trans-interacts with nectin1/PRR1 through V domain interaction\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11544254/","biology":"Nectin-4 is a cell adhesion molecule and also a receptor for measles virus. Skin expression explains the rash seen with enfortumab.","whereFound":["Urothelial carcinoma (>80%)","TNBC","NSCLC","Pancreatic"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"urothelial","pct":"80-90","measure":"IHC, moderate-strong","source":"https://en.wikipedia.org/wiki/Nectin-4"},{"cancerId":"tnbc","pct":"50-60","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/Nectin-4"}]},{"id":"nedd9","kind":"target","name":"NEDD9","aka":["neural precursor cell expressed, developmentally down-regulated 9","Enhancer of filamentation 1","HEF1","CAS-L","CASS2"],"tldr":"NEDD9 (Enhancer of filamentation 1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma.","summary":"Scaffolding protein which plays a central coordinating role for tyrosine-kinase-based signalling related to cell adhesion. As a focal adhesion protein, plays a role in embryonic fibroblast migration. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signalling in B- and T-cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7733","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7733"},{"label":"UniProt Q14511","url":"https://www.uniprot.org/uniprotkb/Q14511/entry"},{"label":"NCBI Gene 4739","url":"https://www.ncbi.nlm.nih.gov/gene/4739"},{"label":"Ensembl ENSG00000111859","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111859"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NEDD9","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7733","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7733","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14511","url":"https://www.uniprot.org/uniprotkb/Q14511/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NEDD9","url":"https://civicdb.org/features/3852","note":"1 evidence items, 0 assertions, 1 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA NEDD9: RNA low tissue specificity; no normal tissue stained high; highest cancer staining lymphoma (6 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NEDD9 tissue","url":"https://www.proteinatlas.org/ENSG00000111859-NEDD9/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000111859 associations","url":"https://platform.opentargets.org/target/ENSG00000111859/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7733","ensembl":"ENSG00000111859","uniprot":"Q14511","entrez":"4739","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Law S.F. et al, Mol. Cell. Biol, 1996, \"Human enhancer of filamentation 1, a novel p130cas-like docking protein, associates with focal adhesion kinase and induces pseudohyphal growth in Saccharomyces cerevisiae\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8668148/","biology":"Scaffolding protein which plays a central coordinating role for tyrosine-kinase-based signalling related to cell adhesion. As a focal adhesion protein, plays a role in embryonic fibroblast migration. May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signalling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRKL and SHPTP2 to the tyrosine phosphorylated form. Promotes adhesion and migration of lymphocytes; as a result required for the correct migration of lymphocytes to the spleen and other secondary lymphoid organs. Plays a role in the organisation of T-cell F-actin cortical cytoskeleton and the centralisation of T-cell receptor microclusters at the immunological synapse. Location: Cytoplasm, cell cortex; Nucleus; Golgi apparatus; Cell projection, lamellipodium (UniProt). Locus 6p24.2 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"neil1","kind":"target","name":"NEIL1","aka":["nei like DNA glycosylase 1","Endonuclease 8-like 1","FLJ22402","hFPG1","NEI1","FPG1"],"tldr":"NEIL1 (Endonuclease 8-like 1) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as a DNA glycosylase that recognises and removes damaged bases. Has a preference for oxidised pyrimidines, such as thymine glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.86, affected pathway 0.89, animal model 0.39, genetic association 0.08).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18448","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18448"},{"label":"UniProt Q96FI4","url":"https://www.uniprot.org/uniprotkb/Q96FI4/entry"},{"label":"NCBI Gene 79661","url":"https://www.ncbi.nlm.nih.gov/gene/79661"},{"label":"Ensembl ENSG00000140398","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140398"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NEIL1","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18448","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18448","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96FI4","url":"https://www.uniprot.org/uniprotkb/Q96FI4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140398","url":"https://platform.opentargets.org/target/ENSG00000140398/associations","note":"association with cancer (MONDO_0004992) 0.58;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:18448","ensembl":"ENSG00000140398","uniprot":"Q96FI4","entrez":"79661","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takao et al, J. Biol. Chem, 2002, \"A back-up glycosylase in Nth1 knock-out mice is a functional Nei (endonuclease VIII) homologue\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12200441/","biology":"Involved in base excision repair of DNA damaged by oxidation or by mutagenic agents. Acts as a DNA glycosylase that recognises and removes damaged bases. Has a preference for oxidised pyrimidines, such as thymine glycol, formamidopyrimidine (Fapy) and 5-hydroxyuracil. Has marginal activity towards 8-oxoguanine. Has AP (apurinic/apyrimidinic) lyase activity and introduces nicks in the DNA strand. Cleaves the DNA backbone by beta-delta elimination to generate a single-strand break at the site of the removed base with both 3'- and 5'-phosphates. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Nucleus; Chromosome (UniProt). Locus 15q24.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"nek10","kind":"target","name":"NEK10","aka":["NIMA related kinase 10","Serine/threonine-protein kinase Nek10","FLJ32685"],"tldr":"NEK10 (Serine/threonine-protein kinase Nek10) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Plays a role in the cellular response to UV irradiation. Mediates G2/M cell cycle arrest, MEK autoactivation and ERK1/2-signalling pathway activation in response to UV irradiation. In ciliated cells of airways, it is involved in the regulation of mucociliary transport.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.37, genetic association 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18592","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18592"},{"label":"UniProt Q6ZWH5","url":"https://www.uniprot.org/uniprotkb/Q6ZWH5/entry"},{"label":"NCBI Gene 152110","url":"https://www.ncbi.nlm.nih.gov/gene/152110"},{"label":"Ensembl ENSG00000163491","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163491"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NEK10","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18592","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18592","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6ZWH5","url":"https://www.uniprot.org/uniprotkb/Q6ZWH5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163491","url":"https://platform.opentargets.org/target/ENSG00000163491/associations","note":"association with cancer (MONDO_0004992) 0.52; per-cancer scores at or above 0.5: breast cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:18592","ensembl":"ENSG00000163491","uniprot":"Q6ZWH5","entrez":"152110","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Plays a role in the cellular response to UV irradiation. Mediates G2/M cell cycle arrest, MEK autoactivation and ERK1/2-signalling pathway activation in response to UV irradiation. In ciliated cells of airways, it is involved in the regulation of mucociliary transport. Locus 3p24.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"kinase","prevalence":[]},{"id":"nf1","kind":"target","name":"NF1 (neurofibromin)","aka":["neurofibromin","neurofibromin 1"],"tldr":"NF1 makes neurofibromin, the protein that switches RAS off. People born with one faulty copy develop neurofibromatosis type 1, whose plexiform neurofibromas are now treated with the MEK inhibitors selumetinib and mirdametinib, which cut the RAS signal one step down.","summary":"NF1 (chromosome 17q11.2) encodes neurofibromin, a RAS GTPase-activating protein that stimulates RAS' hydrolysis of GTP and so returns it to the off state; it has high affinity for RAS but low specific activity and is thought to be a regulator of RAS activity (UniProt P21359). Loss of neurofibromin leaves RAS active without a RAS mutation. In OnCo, NF1 is the germline condition behind the plexiform neurofibromas for which selumetinib (FDA, April 2020, children aged 2 and over, on the SPRINT trial) and mirdametinib (FDA, February 2025, adults and children aged 2 and over, on the ReNeu trial) are approved; both are non-ATP-competitive MEK1/2 inhibitors that lower ERK signalling in NF1-deficient Schwann-lineage cells, and the MEK target record lists NF1-associated plexiform neurofibroma and paediatric low-grade glioma among the settings.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:7765","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7765"},{"label":"UniProt P21359","url":"https://www.uniprot.org/uniprotkb/P21359/entry"},{"label":"NCBI Gene 4763","url":"https://www.ncbi.nlm.nih.gov/gene/4763"}],"tags":["wave5-target"],"related":["selumetinib","mirdametinib","mek","kras","nras"],"cancers":["nsclc"],"sections":[],"technologies":["kinase-inhibitors"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ras-mapk","oncogene-activation-two-hit"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-lung-adenocarcinoma-nature-2014"],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted.","Lung cancer: inactivated in 8 to 12% of adenocarcinomas and 11.6% of squamous tumours (cBioPortal). It releases RAS without a RAS mutation, and with MET, ERBB2 and RIT1 it accounts for 13% of adenocarcinomas, concentrated in those with no other activated oncogene (Cancer Genome Atlas Research Network 2014)."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"NF1","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:7765","ensembl":"ENSG00000196712","uniprot":"P21359","entrez":"4763","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wallace M.R. et al, Science, 1990, \"Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2134734/","biology":"A tumour suppressor with no drug of its own: therapy targets the pathway it normally restrains. The two approved drugs are recorded with response rates in the corpus (two-thirds of 50 children in SPRINT stratum 1; 41% in ReNeu), and the MEK record notes that MEK inhibitors are selected on upstream BRAF, NF1 or RAS status rather than on MEK itself.","whereFound":["Neurofibromatosis type 1 (plexiform neurofibromas; NF1-associated low-grade glioma)","Non-small-cell lung cancer: inactivating mutation 8-12%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"nsclc","pct":"8-12","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal: 206 of 2,653, 7.8%, in luad_mskcc_2023_met_organotropism; 67 of 915, 7.3%, in lung_msk_2017; 66 of 566, 11.7%, in luad_tcga_pan_can_atlas_2018; 27 of 230, 11.7%, in luad_tcga_pub; 25 of 240, 10.4%, in nsclc_pd1_msk_2018; 10 of 302, 3.3%, in luad_oncosg_2020."}]},{"id":"nf2","kind":"target","name":"NF2","aka":["NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor","Merlin","merlin","merlin-1"],"tldr":"NF2 (Merlin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Mesothelioma, Renal cell carcinoma, Breast cancer and 5 more.","summary":"Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway, a signalling pathway that plays a pivotal role in tumour suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway. May act as a membrane stabilising protein.\n\nCIViC holds 6 clinical evidence items and 0 assertions across 5 variants, naming Selumetinib, Temsirolimus, Carboplatin and Cisplatin and others. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.81, literature 0.98, genetic association 0.24, somatic mutation 0.88). IntOGen calls it a driver in 13 cohorts (1 activating, 12 loss-of-function), covering Renal Clear Cell Carcinoma, Cervical Squamous Cell Carcinoma, Hepatocellular Carcinoma, Head and Neck Squamous Cell Carcinoma, Melanoma, Ovarian Epithelial Tumour and others. In OnCo, 1 product record names it (GSK2256098).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7773","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7773"},{"label":"UniProt P35240","url":"https://www.uniprot.org/uniprotkb/P35240/entry"},{"label":"NCBI Gene 4771","url":"https://www.ncbi.nlm.nih.gov/gene/4771"},{"label":"Ensembl ENSG00000186575","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186575"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["mesothelioma","rcc","breast-cancer","thyroid","ovarian","cervical","hcc","head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":["gsk2256098"],"companies":[],"institutions":[],"pathways":["hippo-yap"],"terms":[],"trials":["intuitt-nf2"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 5 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 12 cohorts; CIViC holds 6 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Adult Spinal Cord Ependymoma; Malignant Mesothelioma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NF2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7773","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7773","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35240","url":"https://www.uniprot.org/uniprotkb/P35240/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NF2","url":"https://civicdb.org/features/3870","note":"6 evidence items, 0 assertions, 5 variants; diseases: Adult Spinal Cord Ependymoma, Breast Cancer, Peritoneal Mesothelioma, Malignant Mesothelioma, Thyroid Gland Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000186575","url":"https://platform.opentargets.org/target/ENSG00000186575/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: renal cell carcinoma 0.59, ovarian cancer 0.55, sarcoma 0.52, malignant mesothelioma 0.59, skin cancer 0.52, breast cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen NF2","url":"https://www.intogen.org/search?gene=NF2","note":"driver in 13 cohorts (Act 1, LoF 12); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (GSK2256098), an alteration absent from normal cells. HPA NF2: RNA low tissue specificity; high antibody staining in 30 normal tissues; highest cancer staining endometrial cancer (10 of 11 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Mesothelioma, Renal cell carcinoma, Breast cancer (all types), Thyroid cancer, Ovarian cancer, Cervical cancer, Hepatocellular carcinoma and more); Open Targets associates it with 8 specific cancer types at or above 0.5 (NF2-related schwannomatosis, schwannomatosis, SMARCB1-related schwannomatosis, familial meningioma, acoustic neuroma, pleural mesothelioma and more). (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NF2 tissue","url":"https://www.proteinatlas.org/ENSG00000186575-NF2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000186575 associations","url":"https://platform.opentargets.org/target/ENSG00000186575/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7773","ensembl":"ENSG00000186575","uniprot":"P35240","entrez":"4771","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Trofatter J.A. et al, Cell, 1993, \"A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8453669/","biology":"Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway, a signalling pathway that plays a pivotal role in tumour suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signalling pathway. May act as a membrane stabilising protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. Location: Cell projection, filopodium membrane; Cell projection, ruffle membrane; Nucleus; Cytoplasm, perinuclear region (UniProt). Locus 22q12.2 (HGNC).","whereFound":["Mesothelioma: Open Targets association 0.59 with malignant mesothelioma (MONDO_0006292); IntOGen driver in 4 cohorts (PLMESO)","Renal cell carcinoma: Open Targets association 0.59 with renal cell carcinoma (MONDO_0005086); IntOGen driver in 3 cohorts (CCRCC, PRCC, RCC)","Breast cancer: Open Targets association 0.50 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Thyroid cancer: CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.55 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Cervical cancer: IntOGen driver in 1 cohort (CESC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nfatc2","kind":"target","name":"NFATC2","aka":["nuclear factor of activated T cells 2","Nuclear factor of activated T-cells, cytoplasmic 2","NF-ATP","NFATp","NFAT1"],"tldr":"NFATC2 (Nuclear factor of activated T-cells, cytoplasmic 2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma, Breast cancer, Skin cancer and 3 more.","summary":"Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signalling pathway. Is involved in the negative regulation of chondrogenesis.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.97, animal model 0.52, genetic association 0.00, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Pancreatic Adenocarcinoma, Rectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7776"},{"label":"UniProt Q13469","url":"https://www.uniprot.org/uniprotkb/Q13469/entry"},{"label":"NCBI Gene 4773","url":"https://www.ncbi.nlm.nih.gov/gene/4773"},{"label":"Ensembl ENSG00000101096","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101096"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["pancreatic","breast-cancer","skin-cancer","gastric","colorectal","rectal-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NFATC2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7776","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13469","url":"https://www.uniprot.org/uniprotkb/Q13469/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000101096","url":"https://platform.opentargets.org/target/ENSG00000101096/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: colorectal cancer 0.52, gastric cancer 0.52, skin cancer 0.54, breast cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen NFATC2","url":"https://www.intogen.org/search?gene=NFATC2","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7776","ensembl":"ENSG00000101096","uniprot":"Q13469","entrez":"4773","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Luo et al, Mol. Cell. Biol, 1996, \"Recombinant NFAT1 (NFATp) is regulated by calcineurin in T cells and mediates transcription of several cytokine genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8668213/","biology":"Plays a role in the inducible expression of cytokine genes in T-cells, especially in the induction of the IL-2, IL-3, IL-4, TNF or GM-CSF. Promotes invasive migration through the activation of GPC6 expression and WNT5A signalling pathway. Is involved in the negative regulation of chondrogenesis. Recruited by AKAP5 to ORAI1 pore-forming subunit of CRAC channels in Ca(2+) signalling microdomains where store-operated Ca(2+) influx is coupled to calmodulin and calcineurin signalling and activation of NFAT-dependent transcriptional responses. Location: Cytoplasm; Nucleus (UniProt). Locus 20q13.2 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Rectal cancer: IntOGen driver in 1 cohort (READ)"],"targetClass":"transcription","prevalence":[]},{"id":"nfe2l2","kind":"target","name":"NFE2L2","aka":["NFE2 like bZIP transcription factor 2","Nuclear factor erythroid 2-related factor 2","NRF2","NRF-2"],"tldr":"NFE2L2 (Nuclear factor erythroid 2-related factor 2) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Hepatocellular carcinoma, Head and neck squamous cell carcinoma and 5 more.","summary":"Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralising reactive electrophiles. In normal conditions, ubiquitinated and degraded in the cytoplasm by the BCR(KEAP1) complex. In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, heterodimerisation with one of the small Maf proteins and binding to ARE elements of cytoprotective target genes.\n\nCIViC holds 10 clinical evidence items and 0 assertions across 8 variants, naming Sapanisertib and Platinum Doublet. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes clinical 0.14, affected pathway 0.33, literature 1.00, genetic association 0.07, somatic mutation 0.94, animal model 0.53). IntOGen calls it a driver in 18 cohorts (16 activating, 2 loss-of-function), covering Bladder Urothelial Carcinoma, Cervical Squamous Cell Carcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma, Head and Neck Squamous Cell Carcinoma, Lung Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7782","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7782"},{"label":"UniProt Q16236","url":"https://www.uniprot.org/uniprotkb/Q16236/entry"},{"label":"NCBI Gene 4780","url":"https://www.ncbi.nlm.nih.gov/gene/4780"},{"label":"Ensembl ENSG00000116044","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116044"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","hcc","head-and-neck","urothelial","esophageal","endometrial","cervical","rcc","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["drug-efflux-pumps","hepatocellular-carcinoma-signalling","keap1-nrf2"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-lung-squamous-nature-2012"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.14; IntOGen calls it an activating (Act) driver in 16 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 10 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Squamous Cell Carcinoma.","Lung cancer: hotspot mutated in 12 to 15% of squamous tumours and 3.2% of adenocarcinomas, and the mutations cluster in the two degron motifs KEAP1 grips (E79Q, R34G, R34Q, D29H, G31A, L30F), which is a cleaner signature of positive selection than KEAP1 truncation is (cBioPortal). With KEAP1 and CUL3 the pathway is altered in 34% of squamous cancers (Cancer Genome Atlas Research Network 2012)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NFE2L2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7782","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7782","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16236","url":"https://www.uniprot.org/uniprotkb/Q16236/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NFE2L2","url":"https://civicdb.org/features/3878","note":"10 evidence items, 0 assertions, 8 variants; diseases: Lung Squamous Cell Carcinoma, Lung Non-small Cell Carcinoma, Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000116044","url":"https://platform.opentargets.org/target/ENSG00000116044/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: oesophageal cancer 0.60, hepatocellular carcinoma 0.61, urinary bladder cancer 0.55, ovarian cancer 0.52, endometrial cancer 0.54, head and neck squamous cell carcinoma 0.62 (GraphQL API, CC0)"},{"label":"IntOGen NFE2L2","url":"https://www.intogen.org/search?gene=NFE2L2","note":"driver in 18 cohorts (Act 16, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA NFE2L2: RNA low tissue specificity; high antibody staining in 19 normal tissues; highest cancer staining renal cancer (3 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Hepatocellular carcinoma, Head and neck squamous cell carcinoma, Bladder & urothelial cancer, Oesophageal cancer, Endometrial cancer, Cervical cancer and more); Open Targets associates it with 3 specific cancer types at or above 0.5 (hepatocellular carcinoma, squamous cell lung carcinoma, head and neck squamous cell carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q16236","url":"https://www.uniprot.org/uniprotkb/Q16236/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NFE2L2","url":"https://civicdb.org/features/3878","note":"10 evidence items, 0 assertions, 8 variants; diseases: Lung Squamous Cell Carcinoma, Lung Non-small Cell Carcinoma, Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen NFE2L2","url":"https://www.intogen.org/search?gene=NFE2L2","note":"driver in 18 cohorts (Act 16, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas NFE2L2 tissue","url":"https://www.proteinatlas.org/ENSG00000116044-NFE2L2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116044 associations","url":"https://platform.opentargets.org/target/ENSG00000116044/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7782","ensembl":"ENSG00000116044","uniprot":"Q16236","entrez":"4780","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Moi et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Isolation of NF-E2-related factor 2 (Nrf2), a NF-E2-like basic leucine zipper transcriptional activator that binds to the tandem NF-E2/AP1 repeat of the beta-globin locus control region\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7937919/","biology":"Transcription factor that plays a key role in the response to oxidative stress: binds to antioxidant response (ARE) elements present in the promoter region of many cytoprotective genes, such as phase 2 detoxifying enzymes, and promotes their expression, thereby neutralising reactive electrophiles. In normal conditions, ubiquitinated and degraded in the cytoplasm by the BCR(KEAP1) complex. In response to oxidative stress, electrophile metabolites inhibit activity of the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2, heterodimerisation with one of the small Maf proteins and binding to ARE elements of cytoprotective target genes. The NFE2L2/NRF2 pathway is also activated in response to selective autophagy: autophagy promotes interaction between KEAP1 and SQSTM1/p62 and subsequent inactivation of the BCR(KEAP1) complex, leading to NFE2L2/NRF2 nuclear accumulation and expression of cytoprotective genes. The NFE2L2/NRF2 pathway is also activated during the unfolded protein response (UPR), contributing to redox homeostasis and cell survival following endoplasmic reticulum stress. May also be involved in the transcriptional activation of genes of the beta-globin cluster by mediating enhancer activity of hypersensitive site 2 of the beta-globin locus control region. Location: Cytoplasm, cytosol; Nucleus (UniProt). Locus 2q31.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.71 with lung cancer (MONDO_0008903)","Hepatocellular carcinoma: Open Targets association 0.61 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 4 cohorts (HCC)","Head and neck squamous cell carcinoma: Open Targets association 0.62 with head and neck squamous cell carcinoma (MONDO_0010150); IntOGen driver in 2 cohorts (HNSC)","Bladder & urothelial cancer: Open Targets association 0.55 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 3 cohorts (BLCA)","Oesophageal cancer: Open Targets association 0.60 with oesophageal cancer (MONDO_0007576); IntOGen driver in 1 cohort (ESCA)","Endometrial cancer: Open Targets association 0.54 with endometrial cancer (MONDO_0011962); IntOGen driver in 1 cohort (UCEC)","Non-small-cell lung cancer: hotspot mutation in the keap1-binding degrons 12-15%"],"targetClass":"transcription","prevalence":[{"cancerId":"nsclc","pct":"12-15","measure":"Hotspot mutation in the KEAP1-binding degrons","source":"https://www.cbioportal.org/study/summary?id=lusc_tcga_pan_can_atlas_2018","note":"cBioPortal: 72 of 484, 14.9%, in lusc_tcga_pan_can_atlas_2018; 27 of 178, 15.2%, in lusc_tcga_pub; 13 of 108, 12.0%, in lusc_cptac_2021; 84 of 1,144, 7.3%, in the combined nsclc_tcga_broad_2016; against 18 of 566, 3.2%, in lung adenocarcinoma. The mutations cluster tightly in the two motifs KEAP1 grips: E79Q (7 records), R34G (6), G31A (5), R34Q (5), D29H (5), R34P (5), D29N (5) and L30F (4) in lusc_tcga_pan_can_atlas_2018."}]},{"id":"nfib","kind":"target","name":"NFIB","aka":["nuclear factor I B","Nuclear factor 1 B-type","NFI-RED","NFIB2","NFIB3"],"tldr":"NFIB (Nuclear factor 1 B-type) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer, Oral cavity cancer and Adenoid cystic carcinoma.","summary":"Transcriptional activator of GFAP, essential for proper brain development. Recognises and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes affected pathway 0.31, literature 0.98, genetic association 0.35, somatic mutation 0.94, animal model 0.85).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7785"},{"label":"UniProt O00712","url":"https://www.uniprot.org/uniprotkb/O00712/entry"},{"label":"NCBI Gene 4781","url":"https://www.ncbi.nlm.nih.gov/gene/4781"},{"label":"Ensembl ENSG00000147862","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147862"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","oral-cavity-cancer","adenoid-cystic-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NFIB","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7785","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00712","url":"https://www.uniprot.org/uniprotkb/O00712/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147862","url":"https://platform.opentargets.org/target/ENSG00000147862/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: breast cancer 0.52, oral cavity cancer 0.55, adenoid cystic carcinoma 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7785","ensembl":"ENSG00000147862","uniprot":"O00712","entrez":"4781","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Qian et al, Genomics, 1995, \"Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7590749/","biology":"Transcriptional activator of GFAP, essential for proper brain development. Recognises and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. Location: Nucleus (UniProt). Locus 9p23-p22.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Oral cavity cancer: Open Targets association 0.55 with oral cavity cancer (MONDO_0005515)","Adenoid cystic carcinoma: Open Targets association 0.52 with adenoid cystic carcinoma (MONDO_0004971)"],"targetClass":"transcription","prevalence":[]},{"id":"nfkb2","kind":"target","name":"NFKB2","aka":["nuclear factor kappa B subunit 2","Nuclear factor NF-kappa-B p100 subunit","LYT-10","p52","p105","NF-kB2","p49/p100"],"tldr":"NFKB2 (Nuclear factor NF-kappa-B p100 subunit) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma, Colorectal cancer, Skin cancer and 3 more.","summary":"NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.97, animal model 0.52, genetic association 0.19, somatic mutation 0.97). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7795","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7795"},{"label":"UniProt Q00653","url":"https://www.uniprot.org/uniprotkb/Q00653/entry"},{"label":"NCBI Gene 4791","url":"https://www.ncbi.nlm.nih.gov/gene/4791"},{"label":"Ensembl ENSG00000077150","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077150"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["mesothelioma","colorectal","skin-cancer","dlbcl","pleural-mesothelioma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NFKB2","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7795","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7795","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q00653","url":"https://www.uniprot.org/uniprotkb/Q00653/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000077150","url":"https://platform.opentargets.org/target/ENSG00000077150/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: colorectal cancer 0.54, melanoma 0.52, skin cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen NFKB2","url":"https://www.intogen.org/search?gene=NFKB2","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7795","ensembl":"ENSG00000077150","uniprot":"Q00653","entrez":"4791","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schmid R.M. et al, Nature, 1991, \"Cloning of an NF-kappa B subunit which stimulates HIV transcription in synergy with p65\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1876189/","biology":"NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalisation as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. Location: Nucleus; Cytoplasm (UniProt). Locus 10q24.32 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"nfkbia","kind":"target","name":"NFKBIA","aka":["NFKB inhibitor alpha","NF-kappa-B inhibitor alpha","MAD-3","IkappaBalpha","NFKBI"],"tldr":"NFKBIA (NF-kappa-B inhibitor alpha) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Multiple myeloma and Diffuse large B-cell lymphoma.","summary":"Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localisation signals. On cellular stimulation by immune and pro-inflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 5 cohorts (0 activating, 5 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7797","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7797"},{"label":"UniProt P25963","url":"https://www.uniprot.org/uniprotkb/P25963/entry"},{"label":"NCBI Gene 4792","url":"https://www.ncbi.nlm.nih.gov/gene/4792"},{"label":"Ensembl ENSG00000100906","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100906"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NFKBIA","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7797","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7797","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25963","url":"https://www.uniprot.org/uniprotkb/P25963/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NFKBIA","url":"https://civicdb.org/features/3885","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen NFKBIA","url":"https://www.intogen.org/search?gene=NFKBIA","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA NFKBIA: RNA tissue enhanced (bone marrow 961 nTPM); no normal tissue stained high; highest cancer staining prostate cancer (1 of 8 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P25963","url":"https://www.uniprot.org/uniprotkb/P25963/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NFKBIA","url":"https://civicdb.org/features/3885","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen NFKBIA","url":"https://www.intogen.org/search?gene=NFKBIA","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas NFKBIA tissue","url":"https://www.proteinatlas.org/ENSG00000100906-NFKBIA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100906 associations","url":"https://platform.opentargets.org/target/ENSG00000100906/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7797","ensembl":"ENSG00000100906","uniprot":"P25963","entrez":"4792","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Haskill et al, Cell, 1991, \"Characterization of an immediate-early gene induced in adherent monocytes that encodes I kappa B-like activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1829648/","biology":"Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localisation signals. On cellular stimulation by immune and pro-inflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription. Location: Cytoplasm; Nucleus (UniProt). Locus 14q13.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 2 cohorts (MLYM, NHL)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 2 cohorts (DLBCLNOS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nfkbie","kind":"target","name":"NFKBIE","aka":["NFKB inhibitor epsilon","NF-kappa-B inhibitor epsilon"],"tldr":"NFKBIE (NF-kappa-B inhibitor epsilon) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Skin cancer and 5 more.","summary":"Sequesters NF-kappa-B transcription factor complexes in the cytoplasm, thereby inhibiting their activity. Sequestered complexes include NFKB1-RELA (p50-p65) and NFKB1-REL (p50-c-Rel) complexes. Limits B-cell activation in response to pathogens, and also plays an important role in B-cell development.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.72, genetic association 0.00, somatic mutation 0.81). IntOGen calls it a driver in 7 cohorts (3 activating, 4 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Lung Adenocarcinoma, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7799"},{"label":"UniProt O00221","url":"https://www.uniprot.org/uniprotkb/O00221/entry"},{"label":"NCBI Gene 4794","url":"https://www.ncbi.nlm.nih.gov/gene/4794"},{"label":"Ensembl ENSG00000146232","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000146232"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","skin-cancer","dlbcl","mantle-cell-lymphoma","cll","nsclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NFKBIE","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7799","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00221","url":"https://www.uniprot.org/uniprotkb/O00221/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NFKBIE","url":"https://civicdb.org/features/3887","note":"2 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000146232","url":"https://platform.opentargets.org/target/ENSG00000146232/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: melanoma 0.55, acute lymphoblastic leukaemia 0.54, diffuse large B-cell lymphoma 0.53, non-Hodgkin lymphoma 0.68, skin cancer 0.56, leukaemia 0.62 (GraphQL API, CC0)"},{"label":"IntOGen NFKBIE","url":"https://www.intogen.org/search?gene=NFKBIE","note":"driver in 7 cohorts (Act 3, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA NFKBIE: RNA tissue enhanced (lymphoid tissue 34 nTPM); high antibody staining in 10 normal tissues; highest cancer staining endometrial cancer (4 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Skin cancer (all types), Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (B-cell chronic lymphocytic leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O00221","url":"https://www.uniprot.org/uniprotkb/O00221/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NFKBIE","url":"https://civicdb.org/features/3887","note":"2 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen NFKBIE","url":"https://www.intogen.org/search?gene=NFKBIE","note":"driver in 7 cohorts (Act 3, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas NFKBIE tissue","url":"https://www.proteinatlas.org/ENSG00000146232-NFKBIE/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000146232 associations","url":"https://platform.opentargets.org/target/ENSG00000146232/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7799","ensembl":"ENSG00000146232","uniprot":"O00221","entrez":"4794","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Whiteside S.T. et al, EMBO J, 1997, \"IkappaB epsilon, a novel member of the IkappaB family, controls RelA and cRel NF-kappaB activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9135156/","biology":"Sequesters NF-kappa-B transcription factor complexes in the cytoplasm, thereby inhibiting their activity. Sequestered complexes include NFKB1-RELA (p50-p65) and NFKB1-REL (p50-c-Rel) complexes. Limits B-cell activation in response to pathogens, and also plays an important role in B-cell development. Location: Cytoplasm (UniProt). Locus 6p21.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.68 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: Open Targets association 0.53 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Mantle cell lymphoma: CIViC evidence names this disease","Chronic lymphocytic leukaemia: IntOGen driver in 2 cohorts (CLLSLL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nfkbiz","kind":"target","name":"NFKBIZ","aka":["NFKB inhibitor zeta","NF-kappa-B inhibitor zeta","FLJ34463"],"tldr":"NFKBIZ (NF-kappa-B inhibitor zeta) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Involved in regulation of NF-kappa-B transcription factor complexes. Inhibits NF-kappa-B activity without affecting its nuclear translocation upon stimulation. Inhibits DNA-binding of RELA and NFKB1/p50, and of the NF-kappa-B p65-p50 heterodimer and the NF-kappa-B p50-p50 homodimer.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29805","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29805"},{"label":"UniProt Q9BYH8","url":"https://www.uniprot.org/uniprotkb/Q9BYH8/entry"},{"label":"NCBI Gene 64332","url":"https://www.ncbi.nlm.nih.gov/gene/64332"},{"label":"Ensembl ENSG00000144802","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144802"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NFKBIZ","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29805","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29805","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BYH8","url":"https://www.uniprot.org/uniprotkb/Q9BYH8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NFKBIZ","url":"https://civicdb.org/features/14368","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA NFKBIZ: RNA tissue enriched (bone marrow 384 nTPM); blood lineage group enriched (granulocytes 25 nTPM, monocytes 34 nTPM); high antibody staining in 3 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas NFKBIZ tissue","url":"https://www.proteinatlas.org/ENSG00000144802-NFKBIZ/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000144802 associations","url":"https://platform.opentargets.org/target/ENSG00000144802/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29805","ensembl":"ENSG00000144802","uniprot":"Q9BYH8","entrez":"64332","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ochiai et al, 2000, \"Human MAIL: an inflammation-associated gene that is induced by lipopolysaccharide in leukocytes\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9BYH8/entry","biology":"Involved in regulation of NF-kappa-B transcription factor complexes. Inhibits NF-kappa-B activity without affecting its nuclear translocation upon stimulation. Inhibits DNA-binding of RELA and NFKB1/p50, and of the NF-kappa-B p65-p50 heterodimer and the NF-kappa-B p50-p50 homodimer. Also seems to activate NF-kappa-B-mediated transcription. In vitro, upon association with NFKB1/p50 has transcriptional activation activity and, together with NFKB1/p50 and RELA, is recruited to LCN2 promoters. Promotes transcription of LCN2 and DEFB4. Location: Nucleus (UniProt). Locus 3q12.3 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"nin","kind":"target","name":"NIN","aka":["ninein","Ninein"],"tldr":"NIN (Ninein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Mesothelioma, Gastric & gastro-oesophageal junction cancer and 1 more.","summary":"Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome.\n\nIntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Colorectal Adenocarcinoma, Pleural Mesothelioma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14906","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14906"},{"label":"UniProt Q8N4C6","url":"https://www.uniprot.org/uniprotkb/Q8N4C6/entry"},{"label":"NCBI Gene 51199","url":"https://www.ncbi.nlm.nih.gov/gene/51199"},{"label":"Ensembl ENSG00000100503","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100503"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal","mesothelioma","gastric","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NIN","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14906","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14906","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8N4C6","url":"https://www.uniprot.org/uniprotkb/Q8N4C6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NIN","url":"https://www.intogen.org/search?gene=NIN","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14906","ensembl":"ENSG00000100503","uniprot":"Q8N4C6","entrez":"51199","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hong Y.-R. et al, Biochim. Biophys. Acta, 2000, \"Cloning and characterization of a novel human ninein protein that interacts with the glycogen synthase kinase 3beta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11004522/","biology":"Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation, by recruiting the gamma-tubulin ring complex to the centrosome. Overexpression does not perturb nucleation or elongation of microtubules but suppresses release of microtubules. Required for centriole organisation and microtubule anchoring at the mother centriole. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole; Cell junction, desmosome; Cytoplasm (UniProt). Locus 14q22.1 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nipbl","kind":"target","name":"NIPBL","aka":["NIPBL cohesin loading factor","Nipped-B-like protein","IDN3","DKFZp434L1319","FLJ11203","FLJ12597","FLJ13354","FLJ13648","Scc2"],"tldr":"NIPBL (Nipped-B-like protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin. Plays a role in cohesin loading at sites of DNA damage.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Low-Grade Glioma, NOS, Non-Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28862","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28862"},{"label":"UniProt Q6KC79","url":"https://www.uniprot.org/uniprotkb/Q6KC79/entry"},{"label":"NCBI Gene 25836","url":"https://www.ncbi.nlm.nih.gov/gene/25836"},{"label":"Ensembl ENSG00000164190","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164190"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NIPBL","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:28862","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28862","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6KC79","url":"https://www.uniprot.org/uniprotkb/Q6KC79/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NIPBL","url":"https://www.intogen.org/search?gene=NIPBL","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:28862","ensembl":"ENSG00000164190","uniprot":"Q6KC79","entrez":"25836","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aihara et al, 1998.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q6KC79/entry","biology":"Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin. Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner. Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Location: Nucleus; Chromosome (UniProt). Locus 5p13.2 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (NSCLC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tacr1","kind":"target","name":"NK1 receptor (TACR1)","aka":[],"tldr":"The substance P receptor that drives the delayed nausea felt in the days after chemotherapy. Aprepitant and netupitant block it and are combined with a 5-HT3 blocker and dexamethasone for the most nausea-provoking regimens.","summary":"Substance P acting on neurokinin 1 receptors in the brainstem mediates the delayed phase of chemotherapy-induced nausea and vomiting, which 5-HT3 antagonists control poorly. Aprepitant, approved in 2003, was the first NK1 antagonist; fosaprepitant, rolapitant and the netupitant-palonosetron combination followed. Adding an NK1 antagonist to a 5-HT3 antagonist and dexamethasone is the guideline standard for highly emetogenic chemotherapy such as cisplatin and anthracycline-cyclophosphamide, and it interacts with drugs metabolised by CYP3A4, so dexamethasone doses are reduced.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Tachykinin_receptor_1","links":[{"label":"UniProt P25103: TACR1","url":"https://www.uniprot.org/uniprotkb/P25103/entry"}],"tags":[],"related":["htr3a"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["aprepitant","netupitant-palonosetron","rolapitant","dexamethasone"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TACR1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"not-established","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal adipose tissue, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA TACR1: RNA tissue enhanced (adipose tissue 6 nTPM); blood lineage lineage enriched (granulocytes 2 nTPM); no normal tissue stained high; highest cancer staining skin cancer (1 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TACR1 tissue","url":"https://www.proteinatlas.org/ENSG00000115353-TACR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas TACR1 pathology","url":"https://www.proteinatlas.org/ENSG00000115353-TACR1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115353 associations","url":"https://platform.opentargets.org/target/ENSG00000115353/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11526","ensembl":"ENSG00000115353","uniprot":"P25103","entrez":"6869","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeda et al, Biochem. Biophys. Res. Commun, 1991, \"Molecular cloning, structural characterization and functional expression of the human substance P receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1718267/","biology":"G protein-coupled receptor for substance P in the nucleus tractus solitarius and area postrema; blocked by pitant antiemetics.","whereFound":["Supportive care: prevention of delayed chemotherapy-induced nausea and vomiting"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"host","measure":"Host target: substance P receptor in the vomiting pathway. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"klrc1","kind":"target","name":"NKG2A (KLRC1)","aka":["NKG2A","NKG2-A","CD159a","killer cell lectin like receptor C1"],"tldr":"NKG2A is the brake on NK cells and some killer T cells that is pressed by HLA-E, a molecule tumours raise to look like self. Monalizumab blocks it and is in phase 3 with durvalumab in lung cancer and with cetuximab in head and neck cancer.","summary":"KLRC1 (chromosome 12p13.2) encodes NKG2A, which pairs with CD94 (KLRD1) on cytotoxic and regulatory lymphocytes and recognises the non-classical class Ib molecule HLA-E loaded with signal-sequence peptides from classical class Ia molecules, letting cytotoxic cells monitor MHC class I on healthy cells and tolerate them (UniProt P26715). It is predominantly expressed on NK cells and on subsets of intraepithelial, gamma-delta and memory CD8 T cells (protein level). Monalizumab, an anti-NKG2A antibody, is in the PACIFIC-9 phase 3 study with durvalumab after chemoradiotherapy in stage III non-small-cell lung cancer (NCT05221840) and the INTERLINK-1 phase 3 with cetuximab in head and neck squamous cell carcinoma (NCT04590963).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:6374","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6374"},{"label":"UniProt P26715","url":"https://www.uniprot.org/uniprotkb/P26715/entry"},{"label":"NCBI Gene 3821","url":"https://www.ncbi.nlm.nih.gov/gene/3821"},{"label":"ClinicalTrials.gov NCT05221840","url":"https://clinicaltrials.gov/study/NCT05221840"}],"tags":["checkpoint-map"],"related":["hla-e","nk-cell","durvalumab"],"cancers":["nsclc"],"sections":[],"technologies":["checkpoint-inhibitor"],"targets":[],"drugs":["monalizumab"],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"KLRC1","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:6374","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6374","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P26715","url":"https://www.uniprot.org/uniprotkb/P26715/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:6374","ensembl":"ENSG00000134545","uniprot":"P26715","entrez":"3821","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Houchins J.P. et al, J. Exp. Med, 1991, \"DNA sequence analysis of NKG2, a family of related cDNA clones encoding type II integral membrane proteins on human natural killer cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2007850/","biology":"A C-type lectin-like inhibitory receptor; the CD94/NKG2A heterodimer reads HLA-E and signals through ITIMs.","whereFound":["NK cells; intraepithelial and memory CD8 T-cell subsets (UniProt P26715)","Non-small-cell lung cancer and head and neck cancer trials of monalizumab"],"targetClass":"checkpoint","prevalence":[]},{"id":"nktr","kind":"target","name":"NKTR","aka":["natural killer cell triggering receptor","NK-tumor recognition protein","p104","CypNK"],"tldr":"NKTR (NK-tumour recognition protein) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"PPIase that catalyses the cis-trans isomerisation of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. Component of a putative tumour-recognition complex involved in the function of NK cells.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7833","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7833"},{"label":"UniProt P30414","url":"https://www.uniprot.org/uniprotkb/P30414/entry"},{"label":"NCBI Gene 4820","url":"https://www.ncbi.nlm.nih.gov/gene/4820"},{"label":"Ensembl ENSG00000114857","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114857"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct03635983","nct03729245"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NKTR","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7833","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7833","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30414","url":"https://www.uniprot.org/uniprotkb/P30414/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NKTR","url":"https://www.intogen.org/search?gene=NKTR","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:7833","ensembl":"ENSG00000114857","uniprot":"P30414","entrez":"4820","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Anderson S.K. et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"A cyclophilin-related protein involved in the function of natural killer cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8421688/","biology":"PPIase that catalyses the cis-trans isomerisation of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. Component of a putative tumour-recognition complex involved in the function of NK cells. Location: Cell membrane (UniProt). Locus 3p22.1 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"nkx2-1","kind":"target","name":"NKX2-1","aka":["NK2 homeobox 1","Homeobox protein Nkx-2.1","TTF-1","TTF1","NKX2A","TITF1"],"tldr":"NKX2-1 (Homeobox protein Nkx-2.1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Thyroid cancer, Lung cancer, Skin cancer and 1 more.","summary":"Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.96, genetic association 0.66, somatic mutation 0.81, animal model 0.79). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Low-Grade Glioma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11825","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11825"},{"label":"UniProt P43699","url":"https://www.uniprot.org/uniprotkb/P43699/entry"},{"label":"NCBI Gene 7080","url":"https://www.ncbi.nlm.nih.gov/gene/7080"},{"label":"Ensembl ENSG00000136352","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136352"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["thyroid","lung-cancer","skin-cancer","melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-skoulidis-kras-co-mutation-subsets-cancer-discov-2015"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS.","Lung cancer: high-level amplification in 8 to 14% of adenocarcinomas and about 3% of squamous tumours (cBioPortal). It is the adenocarcinoma lineage gene and the TTF-1 stain the pathologist reads; low expression with CDKN2A or CDKN2B loss defines the mucinous KC subset of KRAS-mutant disease (Skoulidis 2015), and TTF-1 is also low in the POU2F3 and double-negative subtypes of small-cell cancer (Baine 2020)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NKX2-1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11825","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11825","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P43699","url":"https://www.uniprot.org/uniprotkb/P43699/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136352","url":"https://platform.opentargets.org/target/ENSG00000136352/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: melanoma 0.51, thyroid cancer 0.58, skin cancer 0.52, lung cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen NKX2-1","url":"https://www.intogen.org/search?gene=NKX2-1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11825","ensembl":"ENSG00000136352","uniprot":"P43699","entrez":"7080","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Oguchi et al, Biochim. Biophys. Acta, 1995, \"The complete nucleotide sequence of the mouse thyroid-specific enhancer-binding protein (T/EBP) gene: extensive identity of the deduced amino acid sequence with the human protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7711079/","biology":"Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1. Location: Nucleus (UniProt). Locus 14q13.3 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.58 with thyroid cancer (MONDO_0002108)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)","Non-small-cell lung cancer: high-level amplification (lineage survival gene) 8-14%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"nsclc","pct":"8-14","measure":"High-level amplification (lineage survival gene)","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal high-level amplification: 261 of 2,422, 10.8%, in luad_mskcc_2023_met_organotropism; 75 of 915, 8.2%, in lung_msk_2017; 67 of 511, 13.1%, in luad_tcga_pan_can_atlas_2018; 32 of 230, 13.9%, in luad_tcga_pub; 11 of 302, 3.6%, in luad_oncosg_2020; 13 of 487, 2.7%, in lusc_tcga_pan_can_atlas_2018."}]},{"id":"nkx3-1","kind":"target","name":"NKX3-1","aka":["NK3 homeobox 1","Homeobox protein Nkx-3.1","NKX3.1","BAPX2","NKX3A"],"tldr":"NKX3-1 (Homeobox protein Nkx-3.1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Transcription factor, which binds preferentially the consensus sequence 5'-TAAGT[AG]-3' and can behave as a transcriptional repressor. Plays an important role in normal prostate development, regulating proliferation of glandular epithelium and in the formation of ducts in prostate. Acts as a tumour suppressor controlling prostate carcinogenesis, as shown by the ability to inhibit proliferation and invasion activities of PC-3 prostate cancer cells.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.96, animal model 0.88, genetic association 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7838","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7838"},{"label":"UniProt Q99801","url":"https://www.uniprot.org/uniprotkb/Q99801/entry"},{"label":"NCBI Gene 4824","url":"https://www.ncbi.nlm.nih.gov/gene/4824"},{"label":"Ensembl ENSG00000167034","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167034"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["prostate-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NKX3-1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7838","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7838","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99801","url":"https://www.uniprot.org/uniprotkb/Q99801/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000167034","url":"https://platform.opentargets.org/target/ENSG00000167034/associations","note":"association with cancer (MONDO_0004992) 0.50; per-cancer scores at or above 0.5: prostate cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7838","ensembl":"ENSG00000167034","uniprot":"Q99801","entrez":"4824","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: He W.-W. et al, Genomics, 1997, \"A novel human prostate-specific, androgen-regulated homeobox gene (NKX3.1) that maps to 8p21, a region frequently deleted in prostate cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9226374/","biology":"Transcription factor, which binds preferentially the consensus sequence 5'-TAAGT[AG]-3' and can behave as a transcriptional repressor. Plays an important role in normal prostate development, regulating proliferation of glandular epithelium and in the formation of ducts in prostate. Acts as a tumour suppressor controlling prostate carcinogenesis, as shown by the ability to inhibit proliferation and invasion activities of PC-3 prostate cancer cells. Location: Nucleus (UniProt). Locus 8p21.2 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.50 with prostate cancer (MONDO_0008315)","Prostate cancer: deep deletion (8p21) 2-16% depending on disease state"],"targetClass":"transcription","prevalence":[{"cancerId":"prostate","pct":"2-16","measure":"Deep deletion (8p21)","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pub","note":"cBioPortal deep deletion: 53 of 333, 15.9%, in prad_tcga_pub; 39 of 489, 8.0%, in prad_tcga_pan_can_atlas_2018; 44 of 1,013, 4.3%, in prad_p1000; 12 of 424, 2.8%, in prad_mcspc_mskcc_2020; 61 of 2,260, 2.7%, in prostate_msk_2024; 11 of 444, 2.5%, in prad_su2c_2019; 8 of 61, 13.1%, in prad_mich."}]},{"id":"nol9","kind":"target","name":"NOL9","aka":["nucleolar protein 9","Polynucleotide 5'-hydroxyl-kinase NOL9","FLJ23323","NET6","Grc3"],"tldr":"NOL9 (Polynucleotide 5'-hydroxyl-kinase NOL9) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of single-stranded and double-stranded RNA and DNA substrates. Involved in rRNA processing and its kinase activity is required for the processing of the 32S precursor into 5.8S and 28S rRNAs, more specifically for the generation of the major 5.8S(S) form. Required for the efficient pre-rRNA processing of internal transcribed spacer 2 (ITS2).\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26265","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26265"},{"label":"UniProt Q5SY16","url":"https://www.uniprot.org/uniprotkb/Q5SY16/entry"},{"label":"NCBI Gene 79707","url":"https://www.ncbi.nlm.nih.gov/gene/79707"},{"label":"Ensembl ENSG00000162408","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162408"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NOL9","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:26265","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26265","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5SY16","url":"https://www.uniprot.org/uniprotkb/Q5SY16/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NOL9","url":"https://civicdb.org/features/14995","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists NOL9 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA NOL9: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NOL9 tissue","url":"https://www.proteinatlas.org/ENSG00000162408-NOL9/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162408 associations","url":"https://platform.opentargets.org/target/ENSG00000162408/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:26265","ensembl":"ENSG00000162408","uniprot":"Q5SY16","entrez":"79707","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of single-stranded and double-stranded RNA and DNA substrates. Involved in rRNA processing and its kinase activity is required for the processing of the 32S precursor into 5.8S and 28S rRNAs, more specifically for the generation of the major 5.8S(S) form. Required for the efficient pre-rRNA processing of internal transcribed spacer 2 (ITS2). Associates with LAS1L to form an ITS2 pre-rRNA endonuclease-kinase complex and is responsible for the transport of this complex into the nucleolus. Location: Nucleus; Nucleus, nucleolus (UniProt). Locus 1p36.31 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"notch1","kind":"target","name":"NOTCH1","aka":["notch receptor 1","Neurogenic locus notch homolog protein 1","TAN1"],"tldr":"NOTCH1 (Neurogenic locus notch homolog protein 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Head and neck squamous cell carcinoma and 5 more.","summary":"Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs.\n\nCIViC holds 33 clinical evidence items and 0 assertions across 33 variants, naming Prednisone, Porcupine Inhibitor WNT974, Nirogacestat and NOTCH1 Antibody (PF-06293622) and others. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes clinical 0.08, affected pathway 0.97, literature 1.00, genetic association 0.00, somatic mutation 0.95, animal model 0.43). IntOGen calls it a driver in 39 cohorts (10 activating, 29 loss-of-function), covering Acute Lymphoblastic Leukaemia, Angiosarcoma, Basal Cell Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cervical Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7881","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7881"},{"label":"UniProt P46531","url":"https://www.uniprot.org/uniprotkb/P46531/entry"},{"label":"NCBI Gene 4851","url":"https://www.ncbi.nlm.nih.gov/gene/4851"},{"label":"Ensembl ENSG00000148400","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148400"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","head-and-neck","lung-cancer","esophageal","salivary-gland","colorectal","cervical","tnbc","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["field-cancerisation","notch"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-stoeck-notch-rearrangements-tnbc-cancer-discov-2014","paper-wang-notch-pest-mutations-tnbc-ccr-2015","paper-george-sclc-genomic-profiles-nature-2015"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.08; IntOGen calls it an activating (Act) driver in 10 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 29 cohorts; CIViC holds 33 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: T-cell Acute Lymphoblastic Leukaemia; Adult T-cell Leukaemia/lymphoma; Low-Grade Glioma, NOS.","Triple-negative breast cancer: activating NOTCH1/NOTCH2 rearrangements in 6 of 66 TNBCs and no other solid tumour (Stoeck 2014); PEST-domain mutations of NOTCH1 to 3 enriched in TNBC and sensitive to gamma-secretase inhibition in xenografts (Wang 2015); NOTCH1 mutation 5% of METABRIC and MSK triple-negative samples (cBioPortal).","Lung cancer: a tumour suppressor in both squamous and small-cell disease, the opposite of its role in T-cell leukaemia. Truncating mutations in 7.9% of squamous tumours (cBioPortal), and NOTCH family inactivation in 25% of small-cell cancers, where switching NOTCH back on in mice reduced tumour number and abolished the neuroendocrine programme (George 2015)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NOTCH1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7881","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7881","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P46531","url":"https://www.uniprot.org/uniprotkb/P46531/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NOTCH1","url":"https://civicdb.org/features/50","note":"33 evidence items, 0 assertions, 33 variants; diseases: T-cell Acute Lymphoblastic Leukaemia, Chronic Lymphocytic Leukaemia, Lung Non-small Cell Carcinoma, Mantle Cell Lymphoma, Colorectal Cancer and 3 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000148400","url":"https://platform.opentargets.org/target/ENSG00000148400/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: oesophageal cancer 0.56, cervical cancer 0.53, head and neck squamous cell carcinoma 0.69, acute lymphoblastic leukaemia 0.79, B-cell chronic lymphocytic leukaemia 0.74, non-Hodgkin lymphoma 0.81 (GraphQL API, CC0)"},{"label":"IntOGen NOTCH1","url":"https://www.intogen.org/search?gene=NOTCH1","note":"driver in 39 cohorts (Act 10, LoF 29); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA NOTCH1: RNA low tissue specificity; high antibody staining in 8 normal tissues; highest cancer staining colorectal cancer (12 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Head and neck squamous cell carcinoma, Lung cancer (all types), Oesophageal cancer, Salivary gland cancers, Colorectal cancer and more); Open Targets associates it with 4 specific cancer types at or above 0.5 (B-cell chronic lymphocytic leukemia, head and neck squamous cell carcinoma, lymphoid leukemia, squamous cell lung carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P46531","url":"https://www.uniprot.org/uniprotkb/P46531/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NOTCH1","url":"https://civicdb.org/features/50","note":"33 evidence items, 0 assertions, 33 variants; diseases: T-cell Acute Lymphoblastic Leukaemia, Chronic Lymphocytic Leukaemia, Lung Non-small Cell Carcinoma, Mantle Cell Lymphoma, Colorectal Cancer and 3 more (GraphQL API, CC0)"},{"label":"IntOGen NOTCH1","url":"https://www.intogen.org/search?gene=NOTCH1","note":"driver in 39 cohorts (Act 10, LoF 29); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas NOTCH1 tissue","url":"https://www.proteinatlas.org/ENSG00000148400-NOTCH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000148400 associations","url":"https://platform.opentargets.org/target/ENSG00000148400/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7881","ensembl":"ENSG00000148400","uniprot":"P46531","entrez":"4851","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ellisen L.W. et al, Cell, 1991, \"TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1831692/","biology":"Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. Location: Cell membrane; Late endosome membrane; Nucleus (UniProt). Locus 9q34.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.82 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.81 with non-Hodgkin lymphoma (MONDO_0018908)","Head and neck squamous cell carcinoma: Open Targets association 0.69 with head and neck squamous cell carcinoma (MONDO_0010150); CIViC evidence names this disease","Lung cancer: Open Targets association 0.66 with lung cancer (MONDO_0008903)","Oesophageal cancer: Open Targets association 0.56 with oesophageal cancer (MONDO_0007576); IntOGen driver in 3 cohorts (ESCA)","Salivary gland cancers: IntOGen driver in 3 cohorts (SACA)","Triple-negative breast cancer: activating rearrangement, pest-domain mutation or amplification 5-9%","Small-cell lung cancer: inactivating mutation 13-25%"],"targetClass":"transcription","prevalence":[{"cancerId":"tnbc","pct":"5-9","measure":"Activating rearrangement, PEST-domain mutation or amplification","source":"https://doi.org/10.1158/2159-8290.CD-13-0830","note":"NOTCH1 and NOTCH2 rearrangements causing constitutive activation in 6 of 66 TNBCs, 9%, and in no other solid tumour type (Stoeck 2014); PEST-domain mutations of NOTCH1, NOTCH2 and NOTCH3 and focal NOTCH2/NOTCH3 amplifications significantly enriched in the TNBC subset of TCGA (Wang 2015); cBioPortal: NOTCH1 mutation in 16 of 299, 5.4%, in brca_metabric and 9 of 176, 5.1%, in breast_msk_2018; NOTCH2 amplification in 21 of 119, 17.6%, in brca_tcga_pan_can_atlas_2018."},{"cancerId":"sclc","pct":"13-25","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=sclc_ucologne_2015","note":"cBioPortal: NOTCH1 mutated in 16 of 120, 13.3%, in sclc_ucologne_2015. Inactivating mutations across the NOTCH family were found in 25% of the sequenced tumours, and activating Notch signalling in a mouse model strikingly reduced tumour number, extended survival and abolished neuroendocrine gene expression (George 2015)."}]},{"id":"notch2","kind":"target","name":"NOTCH2","aka":["notch receptor 2","Neurogenic locus notch homolog protein 2"],"tldr":"NOTCH2 (Neurogenic locus notch homolog protein 2) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Breast cancer, Lung cancer and 5 more.","summary":"Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes clinical 0.16, affected pathway 0.83, literature 0.98, genetic association 0.38, somatic mutation 0.96, animal model 0.54). IntOGen calls it a driver in 19 cohorts (6 activating, 13 loss-of-function), covering Adenoid Cystic Carcinoma, Acute Myeloid Leukaemia, Basal Cell Carcinoma, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cutaneous Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7882","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7882"},{"label":"UniProt Q04721","url":"https://www.uniprot.org/uniprotkb/Q04721/entry"},{"label":"NCBI Gene 4853","url":"https://www.ncbi.nlm.nih.gov/gene/4853"},{"label":"Ensembl ENSG00000134250","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134250"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","breast-cancer","lung-cancer","head-and-neck","prostate","skin-cancer","salivary-gland","urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.16; IntOGen calls it an activating (Act) driver in 6 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 13 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NOTCH2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7882","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7882","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q04721","url":"https://www.uniprot.org/uniprotkb/Q04721/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NOTCH2","url":"https://civicdb.org/features/3935","note":"2 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000134250","url":"https://platform.opentargets.org/target/ENSG00000134250/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: colorectal cancer 0.52, gastric cancer 0.51, prostate cancer 0.54, ovarian cancer 0.54, melanoma 0.58, neuroendocrine neoplasm 0.51 (GraphQL API, CC0)"},{"label":"IntOGen NOTCH2","url":"https://www.intogen.org/search?gene=NOTCH2","note":"driver in 19 cohorts (Act 6, LoF 13); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA NOTCH2: RNA low tissue specificity; no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Breast cancer (all types), Lung cancer (all types), Head and neck squamous cell carcinoma, Prostate cancer, Skin cancer (all types), Salivary gland cancers and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q04721","url":"https://www.uniprot.org/uniprotkb/Q04721/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NOTCH2","url":"https://civicdb.org/features/3935","note":"2 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen NOTCH2","url":"https://www.intogen.org/search?gene=NOTCH2","note":"driver in 19 cohorts (Act 6, LoF 13); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas NOTCH2 tissue","url":"https://www.proteinatlas.org/ENSG00000134250-NOTCH2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000134250 associations","url":"https://platform.opentargets.org/target/ENSG00000134250/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7882","ensembl":"ENSG00000134250","uniprot":"Q04721","entrez":"4853","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stifani et al, Nat. Genet, 1992, \"Human homologs of a Drosophila enhancer of split gene product define a novel family of nuclear proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1303260/","biology":"Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation. Positively regulates self-renewal of liver cancer cells. Location: Cell membrane; Nucleus; Cytoplasm (UniProt). Locus 1p12 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.68 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Lung cancer: Open Targets association 0.61 with lung cancer (MONDO_0008903)","Head and neck squamous cell carcinoma: IntOGen driver in 3 cohorts (HNSC)","Prostate cancer: Open Targets association 0.54 with prostate cancer (MONDO_0008315); IntOGen driver in 2 cohorts (PRAD)","Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},{"id":"notch3","kind":"target","name":"NOTCH3","aka":["notch receptor 3","Neurogenic locus notch homolog protein 3","CASIL","CADASIL"],"tldr":"NOTCH3 (Neurogenic locus notch homolog protein 3) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma.","summary":"Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD), it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Tarextumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7883","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7883"},{"label":"UniProt Q9UM47","url":"https://www.uniprot.org/uniprotkb/Q9UM47/entry"},{"label":"NCBI Gene 4854","url":"https://www.ncbi.nlm.nih.gov/gene/4854"},{"label":"Ensembl ENSG00000074181","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000074181"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Rectum Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NOTCH3","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7883","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7883","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UM47","url":"https://www.uniprot.org/uniprotkb/Q9UM47/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NOTCH3","url":"https://civicdb.org/features/3936","note":"2 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Cancer, Rectum Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA NOTCH3: RNA tissue enhanced (blood vessel 201 nTPM); high antibody staining in 3 normal tissues; highest cancer staining carcinoid (2 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (myofibromatosis, infantile, 2). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas NOTCH3 tissue","url":"https://www.proteinatlas.org/ENSG00000074181-NOTCH3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000074181 associations","url":"https://platform.opentargets.org/target/ENSG00000074181/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7883","ensembl":"ENSG00000074181","uniprot":"Q9UM47","entrez":"4854","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Joutel et al, Nature, 1996, \"Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8878478/","biology":"Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD), it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Location: Cell membrane; Nucleus (UniProt). Locus 19p13.12 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"nox4","kind":"target","name":"NOX4","aka":["NADPH oxidase 4","KOX-1"],"tldr":"NOX4 (NADPH oxidase 4) is an enzyme. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"NADPH oxidase that catalyses predominantly the reduction of oxygen to H2O2. Can also catalyse to a smaller extent, the reduction of oxygen to superoxide. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.76, genetic association 0.42, clinical 0.12).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7891","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7891"},{"label":"UniProt Q9NPH5","url":"https://www.uniprot.org/uniprotkb/Q9NPH5/entry"},{"label":"NCBI Gene 50507","url":"https://www.ncbi.nlm.nih.gov/gene/50507"},{"label":"Ensembl ENSG00000086991","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000086991"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.12. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NOX4","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7891","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7891","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NPH5","url":"https://www.uniprot.org/uniprotkb/Q9NPH5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000086991","url":"https://platform.opentargets.org/target/ENSG00000086991/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA NOX4: RNA group enriched (blood vessel 35 nTPM, kidney 129 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas NOX4 tissue","url":"https://www.proteinatlas.org/ENSG00000086991-NOX4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000086991 associations","url":"https://platform.opentargets.org/target/ENSG00000086991/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7891","ensembl":"ENSG00000086991","uniprot":"Q9NPH5","entrez":"50507","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Geiszt et al, Proc. Natl. Acad. Sci. U.S.A, 2000, \"Identification of renox, an NAD(P)H oxidase in kidney\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10869423/","biology":"NADPH oxidase that catalyses predominantly the reduction of oxygen to H2O2. Can also catalyse to a smaller extent, the reduction of oxygen to superoxide. May function as an oxygen sensor regulating the KCNK3/TASK-1 potassium channel and HIF1A activity. May regulate insulin signalling cascade. May play a role in apoptosis, bone resorption and lipolysaccharide-mediated activation of NFKB. May produce superoxide in the nucleus and play a role in regulating gene expression upon cell stimulation. Location: Cytoplasm; Endoplasmic reticulum membrane; Cell membrane; Cell junction, focal adhesion (UniProt). Locus 11q14.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"npm1","kind":"target","name":"NPM1 mutation","aka":[],"tldr":"NPM1 is the most common mutation in adult leukaemia. It moves a nuclear protein into the cytoplasm and, it turns out, makes the leukaemia dependent on menin.","summary":"NPM1 exon 12 frameshift mutations occur in ~30% of adult AML (50-60% of normal-karyotype AML). Favourable risk without FLT3-ITD (ELN 2022), but relapses are common and MRD by NPM1 transcript PCR is the best-validated molecular MRD marker in AML. NPM1-mutant blasts rely on the menin-KMT2A complex; revumenib (October 2025) and ziftomenib (November 2025) are approved for relapsed/refractory NPM1-mutated AML.","asOf":"2026-09-07","wikipedia":"https://en.wikipedia.org/wiki/Nucleophosmin","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Nucleophosmin"}],"tags":["driver","mrd-marker"],"related":["menin","flt3","npm1-mutation"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":["revumenib","ziftomenib"],"companies":[],"institutions":[],"pathways":[],"terms":["mrd-negative-cr"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"NPM1","role":[],"sources":[],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (NPM1 mutation) absent from normal cells. HPA NPM1: RNA low tissue specificity; high antibody staining in 45 normal tissues; highest cancer staining breast cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 3 specific cancer types at or above 0.5 (non-small cell lung carcinoma, acute myeloid leukemia, dyskeratosis congenita); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"NPM1 mutation label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=b650f696-3391-4274-8b55-a5f5e9d04769","note":"Susceptible NPM1 mutation, relapsed or refractory"},{"label":"Human Protein Atlas NPM1 tissue","url":"https://www.proteinatlas.org/ENSG00000181163-NPM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000181163 associations","url":"https://platform.opentargets.org/target/ENSG00000181163/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7910","ensembl":"ENSG00000181163","uniprot":"P06748","entrez":"4869","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chan P.-K. et al, J. Biol. Chem, 1986, \"Amino acid sequence of protein B23 phosphorylation site\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3944116/","biology":"Nucleophosmin is a nucleolar chaperone; the mutant acquires a nuclear export signal, delocalising to the cytoplasm and dysregulating HOX gene expression via menin-dependent chromatin binding.","whereFound":["Adult AML (~30%)","Normal-karyotype AML (50-60%)"],"targetClass":"other","prevalence":[{"cancerId":"aml","pct":30,"measure":"mutation","note":"~50-60% of cytogenetically normal AML"}]},{"id":"nprl2","kind":"target","name":"NPRL2","aka":["NPR2 like, GATOR1 complex subunit","GATOR1 complex protein NPRL2","NPR2L","NPR2","TUSC4"],"tldr":"NPRL2 (GATOR1 complex protein NPRL2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma.","summary":"Catalytic component of the GATOR1 complex, a multiprotein complex that functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. In response to amino acid depletion, the GATOR1 complex has GTPase activating protein (GAP) activity and strongly increases GTP hydrolysis by RagA/RRAGA (or RagB/RRAGB) within heterodimeric Rag complexes, thereby turning them into their inactive GDP-bound form, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signalling. In the presence of abundant amino acids, the GATOR1 complex is ubiquitinated and inhibited by GATOR2.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pancreas.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24969","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24969"},{"label":"UniProt Q8WTW4","url":"https://www.uniprot.org/uniprotkb/Q8WTW4/entry"},{"label":"NCBI Gene 10641","url":"https://www.ncbi.nlm.nih.gov/gene/10641"},{"label":"Ensembl ENSG00000114388","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114388"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NPRL2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24969","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24969","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WTW4","url":"https://www.uniprot.org/uniprotkb/Q8WTW4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NPRL2","url":"https://www.intogen.org/search?gene=NPRL2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:24969","ensembl":"ENSG00000114388","uniprot":"Q8WTW4","entrez":"10641","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kondo et al, 1998, \"Gene 21, a new candidate human tumor suppressor gene located in the 3p21.3 small cell lung cancer homozygous deletion region homologous to the yeast nitrogen permease regulator NPR2\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8WTW4/entry","biology":"Catalytic component of the GATOR1 complex, a multiprotein complex that functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. In response to amino acid depletion, the GATOR1 complex has GTPase activating protein (GAP) activity and strongly increases GTP hydrolysis by RagA/RRAGA (or RagB/RRAGB) within heterodimeric Rag complexes, thereby turning them into their inactive GDP-bound form, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signalling. In the presence of abundant amino acids, the GATOR1 complex is ubiquitinated and inhibited by GATOR2. Within the GATOR1 complex, NPRL2 constitutes the catalytic subunit that mediates the GTPase activator activity and under methionine-sufficient conditions, the GTPase activator activity is inhibited by PRMT1 through methylation and consequently inducing timely mTORC1 activation. Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signalling. Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at 'Tyr-9', 'Tyr-373' and 'Tyr-376' residues. Location: Lysosome membrane (UniProt). Locus 3p21.31 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PANCREAS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nptxr","kind":"target","name":"NPTXR","aka":["neuronal pentraxin receptor","Neuronal pentraxin receptor"],"tldr":"NPTXR (Neuronal pentraxin receptor) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cisplatin and Fluorouracil.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7954","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7954"},{"label":"UniProt O95502","url":"https://www.uniprot.org/uniprotkb/O95502/entry"},{"label":"NCBI Gene 23467","url":"https://www.ncbi.nlm.nih.gov/gene/23467"},{"label":"Ensembl ENSG00000221890","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000221890"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NPTXR","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7954","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7954","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95502","url":"https://www.uniprot.org/uniprotkb/O95502/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NPTXR","url":"https://civicdb.org/features/9581","note":"1 evidence items, 0 assertions, 1 variants; diseases: Stomach Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA NPTXR: RNA tissue enriched (brain 179 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas NPTXR tissue","url":"https://www.proteinatlas.org/ENSG00000221890-NPTXR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000221890 associations","url":"https://platform.opentargets.org/target/ENSG00000221890/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7954","ensembl":"ENSG00000221890","uniprot":"O95502","entrez":"23467","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dunham et al, Nature, 1999, \"The DNA sequence of human chromosome 22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10591208/","biology":"May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses. Location: Membrane (UniProt). Locus 22q13.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"nqo1","kind":"target","name":"NQO1","aka":["NAD(P)H quinone dehydrogenase 1","NAD(P)H dehydrogenase [quinone] 1","QR1","NMOR1","DIA4"],"tldr":"NQO1 (NAD(P)H dehydrogenase [quinone] 1) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer and Pancreatic ductal adenocarcinoma.","summary":"Flavin-containing quinone reductase that catalyses two-electron reduction of quinones to hydroquinones using either NADH or NADPH as electron donors. In a ping-pong kinetic mechanism, the electrons are sequentially transferred from NAD(P)H to flavin cofactor and then from reduced flavin to the quinone, bypassing the formation of semiquinone and reactive oxygen species. Regulates cellular redox state primarily through quinone detoxification.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants, naming Amrubicin and NSC84167.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2874","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2874"},{"label":"UniProt P15559","url":"https://www.uniprot.org/uniprotkb/P15559/entry"},{"label":"NCBI Gene 1728","url":"https://www.ncbi.nlm.nih.gov/gene/1728"},{"label":"Ensembl ENSG00000181019","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000181019"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["lung-cancer","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["keap1-nrf2"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NQO1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:2874","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2874","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15559","url":"https://www.uniprot.org/uniprotkb/P15559/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NQO1","url":"https://civicdb.org/features/1463","note":"3 evidence items, 0 assertions, 3 variants; diseases: Lung Cancer, Pancreatic Ductal Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA NQO1: RNA tissue enhanced (stomach 1 493 nTPM); high antibody staining in 4 normal tissues; highest cancer staining pancreatic cancer (6 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Pancreatic ductal adenocarcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas NQO1 tissue","url":"https://www.proteinatlas.org/ENSG00000181019-NQO1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000181019 associations","url":"https://platform.opentargets.org/target/ENSG00000181019/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:2874","ensembl":"ENSG00000181019","uniprot":"P15559","entrez":"1728","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jaiswal A.K. et al, J. Biol. Chem, 1988, \"Human dioxin-inducible cytosolic NAD(P)H:menadione oxidoreductase. cDNA sequence and localization of gene to chromosome 16\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2843525/","biology":"Flavin-containing quinone reductase that catalyses two-electron reduction of quinones to hydroquinones using either NADH or NADPH as electron donors. In a ping-pong kinetic mechanism, the electrons are sequentially transferred from NAD(P)H to flavin cofactor and then from reduced flavin to the quinone, bypassing the formation of semiquinone and reactive oxygen species. Regulates cellular redox state primarily through quinone detoxification. Reduces components of plasma membrane redox system such as coenzyme Q and vitamin quinones, producing antioxidant hydroquinone forms. In the process may function as superoxide scavenger to prevent hydroquinone oxidation and facilitate excretion. Alternatively, can activate quinones and their derivatives by generating redox reactive hydroquinones with DNA cross-linking antitumor potential. Location: Cytoplasm, cytosol (UniProt). Locus 16q22.1 (HGNC).","whereFound":["Lung cancer: CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"nr2f2","kind":"target","name":"NR2F2","aka":["nuclear receptor subfamily 2 group F member 2","COUP transcription factor 2","COUP-TFII","COUPTFB","SVP40","NF-E3","COUPTF2","ARP1","TFCOUP2"],"tldr":"NR2F2 (COUP transcription factor 2) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7976","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7976"},{"label":"UniProt P24468","url":"https://www.uniprot.org/uniprotkb/P24468/entry"},{"label":"NCBI Gene 7026","url":"https://www.ncbi.nlm.nih.gov/gene/7026"},{"label":"Ensembl ENSG00000185551","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185551"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NR2F2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7976","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7976","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P24468","url":"https://www.uniprot.org/uniprotkb/P24468/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NR2F2","url":"https://civicdb.org/features/5731","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA NR2F2: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NR2F2 tissue","url":"https://www.proteinatlas.org/ENSG00000185551-NR2F2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185551 associations","url":"https://platform.opentargets.org/target/ENSG00000185551/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7976","ensembl":"ENSG00000185551","uniprot":"P24468","entrez":"7026","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ladias J.A.A. et al, Science, 1991, \"Regulation of the apolipoprotein AI gene by ARP-1, a novel member of the steroid receptor superfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1899293/","biology":"Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A. May be required to establish ovary identity during early gonad development. Location: Nucleus (UniProt). Locus 15q26.2 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"nr4a2","kind":"target","name":"NR4A2","aka":["nuclear receptor subfamily 4 group A member 2","Nuclear receptor subfamily 4 group A member 2","TINUR","RNR1","HZF-3","NURR1"],"tldr":"NR4A2 (Nuclear receptor subfamily 4 group A member 2) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma.","summary":"Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Gemcitabine and C-DIM 12.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7981","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7981"},{"label":"UniProt P43354","url":"https://www.uniprot.org/uniprotkb/P43354/entry"},{"label":"NCBI Gene 4929","url":"https://www.ncbi.nlm.nih.gov/gene/4929"},{"label":"Ensembl ENSG00000153234","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153234"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NR4A2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7981","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7981","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P43354","url":"https://www.uniprot.org/uniprotkb/P43354/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NR4A2","url":"https://civicdb.org/features/3996","note":"3 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Ductal Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA NR4A2: RNA tissue enhanced (adrenal gland 125 nTPM, bone marrow 126 nTPM, ovary 122 nTPM); no normal tissue stained high; highest cancer staining head and neck cancer (3 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas NR4A2 tissue","url":"https://www.proteinatlas.org/ENSG00000153234-NR4A2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000153234 associations","url":"https://platform.opentargets.org/target/ENSG00000153234/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7981","ensembl":"ENSG00000153234","uniprot":"P43354","entrez":"4929","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mages H.W. et al, Mol. Endocrinol, 1994, \"NOT, a human immediate-early response gene closely related to the steroid/thyroid hormone receptor NAK1/TR3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7877627/","biology":"Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for expression of a set of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Location: Cytoplasm; Nucleus (UniProt). Locus 2q24.1 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"nr4a3","kind":"target","name":"NR4A3","aka":["nuclear receptor subfamily 4 group A member 3","Nuclear receptor subfamily 4 group A member 3","NOR1","MINOR"],"tldr":"NR4A3 (Nuclear receptor subfamily 4 group A member 3) is a protein that switches other genes on and off. The public catalogues list it as a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas, Colorectal cancer, Lung cancer and 1 more.","summary":"Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5'-AAAAGGTCA-3' site and as homodimers to the Nur response element (NurRE) site in the promoter of their regulated target genes. Plays a role in the regulation of proliferation, survival and differentiation of many different cell types and also in metabolism and inflammation.\n\nCIViC holds 1 clinical evidence item and 1 assertion across 3 variants. Open Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.97, genetic association 0.33, somatic mutation 0.98, animal model 0.34).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7982","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7982"},{"label":"UniProt Q92570","url":"https://www.uniprot.org/uniprotkb/Q92570/entry"},{"label":"NCBI Gene 8013","url":"https://www.ncbi.nlm.nih.gov/gene/8013"},{"label":"Ensembl ENSG00000119508","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119508"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["sarcoma","colorectal","lung-cancer","chondrosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Acinic Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NR4A3","role":["biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:7982","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7982","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92570","url":"https://www.uniprot.org/uniprotkb/Q92570/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NR4A3","url":"https://civicdb.org/features/6415","note":"1 evidence items, 1 assertions, 3 variants; diseases: Acinic Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000119508","url":"https://platform.opentargets.org/target/ENSG00000119508/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: colorectal cancer 0.52, sarcoma 0.67, lung cancer 0.51, chondrosarcoma 0.54 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA NR4A3: RNA low tissue specificity; no normal tissue stained high; highest cancer staining liver cancer (2 of 10 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q92570","url":"https://www.uniprot.org/uniprotkb/Q92570/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NR4A3","url":"https://civicdb.org/features/6415","note":"1 evidence items, 1 assertions, 3 variants; diseases: Acinic Cell Carcinoma (GraphQL API, CC0)"},{"label":"Human Protein Atlas NR4A3 tissue","url":"https://www.proteinatlas.org/ENSG00000119508-NR4A3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000119508 associations","url":"https://platform.opentargets.org/target/ENSG00000119508/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7982","ensembl":"ENSG00000119508","uniprot":"Q92570","entrez":"8013","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hedvat C.V. et al, Mol. Endocrinol, 1995, \"The isolation and characterization of MINOR, a novel mitogen-inducible nuclear orphan receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8614405/","biology":"Transcriptional activator that binds to regulatory elements in promoter regions in a cell- and response element (target)-specific manner. Induces gene expression by binding as monomers to the NR4A1 response element (NBRE) 5'-AAAAGGTCA-3' site and as homodimers to the Nur response element (NurRE) site in the promoter of their regulated target genes. Plays a role in the regulation of proliferation, survival and differentiation of many different cell types and also in metabolism and inflammation. Mediates proliferation of vascular smooth muscle, myeloid progenitor cell and type B pancreatic cells; promotes mitogen-induced vascular smooth muscle cell proliferation through transactivation of SKP2 promoter by binding a NBRE site. Upon PDGF stimulation, stimulates vascular smooth muscle cell proliferation by regulating CCND1 and CCND2 expression. In islets, induces type B pancreatic cell proliferation through up-regulation of genes that activate cell cycle, as well as genes that cause degradation of the CDKN1A. Location: Nucleus (UniProt). Locus 9q31.1 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.67 with sarcoma (MONDO_0005089)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Chondrosarcoma: Open Targets association 0.54 with chondrosarcoma (MONDO_0008977)"],"targetClass":"transcription","prevalence":[]},{"id":"nr5a2","kind":"target","name":"NR5A2","aka":["nuclear receptor subfamily 5 group A member 2","Nuclear receptor subfamily 5 group A member 2","FTZ-F1beta","hB1F","LRH-1","FTZ-F1","hB1F-2","B1F2","LRH1"],"tldr":"NR5A2 (Nuclear receptor subfamily 5 group A member 2) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Orphan nuclear receptor that binds DNA as a monomer to the 5'-TCAAGGCCA-3' sequence and controls expression of target genes: regulates key biological processes, such as early embryonic development, cholesterol and bile acid synthesis pathways, as well as liver and pancreas morphogenesis. Ligand-binding causes conformational change which causes recruitment of coactivators, promoting target gene activation. The specific ligand is unknown, but specific phospholipids, such as phosphatidylethanolamine, phosphatidylserine, dilauroyl phosphatidylcholine and diundecanoyl phosphatidylcholine can act as ligand in vitro.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.98, animal model 0.69, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7984","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7984"},{"label":"UniProt O00482","url":"https://www.uniprot.org/uniprotkb/O00482/entry"},{"label":"NCBI Gene 2494","url":"https://www.ncbi.nlm.nih.gov/gene/2494"},{"label":"Ensembl ENSG00000116833","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116833"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NR5A2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7984","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7984","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00482","url":"https://www.uniprot.org/uniprotkb/O00482/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000116833","url":"https://platform.opentargets.org/target/ENSG00000116833/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7984","ensembl":"ENSG00000116833","uniprot":"O00482","entrez":"2494","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Li et al, J. Biol. Chem, 1998, \"Cloning and characterization of a novel human hepatocyte transcription factor, hB1F, which binds and activates enhancer II of hepatitis B virus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9786908/","biology":"Orphan nuclear receptor that binds DNA as a monomer to the 5'-TCAAGGCCA-3' sequence and controls expression of target genes: regulates key biological processes, such as early embryonic development, cholesterol and bile acid synthesis pathways, as well as liver and pancreas morphogenesis. Ligand-binding causes conformational change which causes recruitment of coactivators, promoting target gene activation. The specific ligand is unknown, but specific phospholipids, such as phosphatidylethanolamine, phosphatidylserine, dilauroyl phosphatidylcholine and diundecanoyl phosphatidylcholine can act as ligand in vitro. Acts as a pioneer transcription factor, which unwraps target DNA from histones and elicits local opening of closed chromatin. Plays a central role during preimplantation stages of embryonic development. Plays a minor role in zygotic genome activation (ZGA) by regulating a small set of two-cell stage genes. Location: Nucleus; Chromosome (UniProt). Locus 1q32.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"nras","kind":"target","name":"NRAS","aka":["N-ras","NRAS proto-oncogene, GTPase"],"tldr":"NRAS is one of the three RAS switch proteins that pass growth signals into the cell. When a mutation jams it on, as in a share of melanomas, the cell keeps dividing; today's drugs reach it indirectly through MEK or RAF, and pan-RAS inhibitors that bind the active form are in trials.","summary":"NRAS (chromosome 1p13.2) encodes a small GTPase of the RAS-MAPK pathway that binds GDP and GTP, hydrolyses GTP and relays signals for proliferation and survival; its turnover is controlled by LZTR1-directed ubiquitination through a CUL3 ligase complex (UniProt P01111). In OnCo, NRAS appears as the mutation that defines the melanoma population for the MEK inhibitor tunlametinib (approved in China in 2024 for NRAS-mutant melanoma, a group with no targeted therapy elsewhere) and for the pan-RAF inhibitor naporafenib studied with trametinib; as a resistance marker, with KRAS, that excludes patients from cetuximab in colorectal cancer and that the Tempus xT CDx companion diagnostic reports; and as one of the three isoforms the pan-RAS(ON) inhibitor JYP0015 binds, covering mutations at codons 12, 13, 61, 117 and 146.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:7989","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7989"},{"label":"UniProt P01111","url":"https://www.uniprot.org/uniprotkb/P01111/entry"},{"label":"NCBI Gene 4893","url":"https://www.ncbi.nlm.nih.gov/gene/4893"}],"tags":["wave5-target"],"related":["tunlametinib","naporafenib","cetuximab","tempus-xt-cdx","lenzilumab","kras","mek","nf1"],"cancers":["melanoma","colorectal","cmml"],"sections":[],"technologies":["kras-inhibitors"],"targets":[],"drugs":["jyp0015"],"companies":[],"institutions":[],"pathways":["ras-mapk","melanoma-signalling","colorectal-cancer-signalling"],"terms":["wild-type"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-douillard-prime-panitumumab-ras-nejm-2013"],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted.","Colorectal cancer: mutated in 4 to 9%, and unlike KRAS most of it sits outside exon 2: in crc_msk_2026 the missense records split 137 at codons 59 and 61 against 123 at codons 12 and 13, with Q61K the commonest single allele (cBioPortal). An exon 2-only assay therefore misses nearly all NRAS mutations, which is half the argument for extended RAS testing (Douillard 2013)."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"NRAS","role":[],"sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (JYP0015), an alteration absent from normal cells. HPA NRAS: RNA low tissue specificity; no normal tissue stained high; highest cancer staining ovarian cancer (2 of 9 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Colorectal cancer, Leukaemia); Open Targets associates it with 12 specific cancer types at or above 0.5 (large congenital melanocytic nevus, nevus, epidermal, acute myeloid leukemia, melanoma, autoimmune lymphoproliferative syndrome type 4, nevus and more). (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"ClinicalTrials.gov: trials of JYP0015","url":"https://clinicaltrials.gov/search?intr=JYP0015"},{"label":"Human Protein Atlas NRAS tissue","url":"https://www.proteinatlas.org/ENSG00000213281-NRAS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000213281 associations","url":"https://platform.opentargets.org/target/ENSG00000213281/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7989","ensembl":"ENSG00000213281","uniprot":"P01111","entrez":"4893","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Taparowsky et al, Cell, 1983, \"Structure and activation of the human N-ras gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6616621/","biology":"RAS proteins share the GDP/GTP cycle and intrinsic GTPase activity; neurofibromin (NF1) stimulates that hydrolysis and so switches RAS off (UniProt P21359). Mutant NRAS stays GTP-bound, so the corpus drugs act below it (tunlametinib on MEK, naporafenib on RAF) or on the active state of all RAS isoforms (JYP0015). The lenzilumab record notes that chronic myelomonocytic leukaemia progenitors with NRAS, KRAS or CBL mutations proliferate in response to very low GM-CSF levels.","whereFound":["Melanoma with NRAS mutation (tunlametinib, naporafenib)","Colorectal cancer (RAS testing of KRAS and NRAS exons 2 to 4 before cetuximab; mutant tumours excluded)","Chronic myelomonocytic leukaemia progenitors (lenzilumab rationale)","Colorectal cancer: activating mutation (codon 12, 13, 59, 61 or 117) 4-9%"],"targetClass":"oncogene","prevalence":[{"cancerId":"colorectal","pct":"4-9","measure":"Activating mutation (codon 12, 13, 59, 61 or 117)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 298 of 7,237, 4.1%, in crc_msk_2026; 46 of 1,134, 4.1%, in crc_msk_2017; 66 of 1,516, 4.4%, in crc_eo_2020; 33 of 534, 6.2%, in coadread_tcga_pan_can_atlas_2018; 20 of 224, 8.9%, in coadread_tcga_pub; 27 of 619, 4.4%, in coadread_dfci_2016; 24 of 1,015, 2.4%, in crc_sysucc_2022. NRAS runs the other way from KRAS on codon usage: in crc_msk_2026 the missense records split 137 at codons 59 and 61 against 123 at codons 12 and 13, with Q61K the single commonest allele (63 records), then G12D (54), Q61R (40) and Q61L (20) (cBioPortal)."}]},{"id":"nrg1","kind":"target","name":"NRG1","aka":["neuregulin 1","Pro-neuregulin-1, membrane-bound isoform","NRG1-IT2"],"tldr":"NRG1 (Pro-neuregulin-1, membrane-bound isoform) is a protein on the cell surface. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker, a fusion partner and an antigen, and an approved or late-stage drug is recorded against it. Tied to Lung cancer, Thyroid cancer, Breast cancer and 5 more.","summary":"Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumour cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 3 variants, naming Lapatinib, Afatinib, Gefitinib and Erlotinib and others. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.92, literature 0.99, genetic association 0.70, somatic mutation 0.86, animal model 0.57). IntOGen calls it a driver in 3 cohorts (2 activating, 1 loss-of-function), covering Oesophageal Adenocarcinoma, Papillary Renal Cell Carcinoma, Stomach Adenocarcinoma. In OnCo, 1 product record names it (Zenocutuzumab).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7997","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7997"},{"label":"UniProt Q02297","url":"https://www.uniprot.org/uniprotkb/Q02297/entry"},{"label":"NCBI Gene 3084","url":"https://www.ncbi.nlm.nih.gov/gene/3084"},{"label":"Ensembl ENSG00000157168","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000157168"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen","nrg1-fusion"],"cancers":["lung-cancer","thyroid","breast-cancer","colorectal","ovarian","head-and-neck","gastric","esophageal","pancreatic","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["zenocutuzumab"],"companies":[],"institutions":[],"pathways":[],"terms":["gene-fusion"],"trials":["nct02912949"],"people":[],"bottlenecks":[],"keyPapers":["paper-philip-kras-wild-type-pancreatic-ccr-2022","paper-heining-nrg1-fusions-kras-wild-type-pancreatic-cancer-discov-2018","paper-jones-nrg1-fusions-recurrent-actionable-kras-wild-type-pdac-ccr-2019","paper-enrgy-zenocutuzumab-nrg1-fusion-positive-cancer-nejm-2025","paper-jonna-nrg1-fusions-solid-tumours-ccr-2019","paper-fernandez-cuesta-cd74-nrg1-fusion-lung-cancer-discov-2014"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 12 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 9 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene; a membrane or secreted protein (UniProt keywords) that 1 antibody-based OnCo product name. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Pancreatic ductal adenocarcinoma: NRG1 fusions are found in 0.3 to 1% overall but in 1.3% of KRAS wild-type tumours and in every wild-type tumour of two whole-genome series (Heining 2018, Jones 2019; Philip 2022). Partners include ATP1B1, CD44 and NOTCH2 (cBioPortal pdac_msk_2024). Zenocutuzumab gave responses in 15 of 36 pancreatic patients, 42%, in eNRGy (Schram 2025); afatinib produced rapid responses before it. Detection needs RNA-based or intron-covering sequencing.","Lung cancer: rearranged in about 0.3% of cases, the highest incidence of any tumour type in a 21,858-sample RNA fusion series (Jonna 2019), and concentrated in invasive mucinous adenocarcinoma, the histology with no other driver (Fernandez-Cuesta 2014). The fusion presents the EGF-like domain of neuregulin 1 at the cell surface as a ligand for HER2-HER3 dimers, so it is treated with an antibody against the receptor pair rather than a kinase inhibitor, and it is the alteration most dependent on RNA-based testing."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NRG1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner","antigen"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:7997","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7997","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02297","url":"https://www.uniprot.org/uniprotkb/Q02297/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NRG1","url":"https://civicdb.org/features/2593","note":"9 evidence items, 0 assertions, 3 variants; diseases: Lung Non-small Cell Carcinoma, Colorectal Cancer, Ovarian Cancer, Breast Cancer, Head And Neck Squamous Cell Carcinoma and 1 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000157168","url":"https://platform.opentargets.org/target/ENSG00000157168/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.67, gastric cancer 0.54, oesophageal cancer 0.51, thyroid cancer 0.64, neuroendocrine neoplasm 0.52, skin cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen NRG1","url":"https://www.intogen.org/search?gene=NRG1","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"lineage-antigen","distribution":"many-types","specificityNote":"Lineage antigen shared with normal monocytes: HPA blood lineage lineage enriched at or above 25 nTPM, and 1 antibody (Zenocutuzumab) aim at it, so normal cells of the lineage are hit too. HPA NRG1: RNA tissue enhanced (liver 16 nTPM); blood lineage lineage enriched (monocytes 54 nTPM); no normal tissue stained high; highest cancer staining lymphoma (3 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Thyroid cancer, Breast cancer (all types), Colorectal cancer, Ovarian cancer, Head and neck squamous cell carcinoma, Gastric & gastro-oesophageal junction cancer and more); Open Targets associates it with 5 specific cancer types at or above 0.5 (lung adenocarcinoma, thyroid gland carcinoma, thyroid cancer, thyroid gland papillary carcinoma, non-small cell lung carcinoma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NRG1 tissue","url":"https://www.proteinatlas.org/ENSG00000157168-NRG1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas NRG1 pathology","url":"https://www.proteinatlas.org/ENSG00000157168-NRG1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157168 associations","url":"https://platform.opentargets.org/target/ENSG00000157168/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7997","ensembl":"ENSG00000157168","uniprot":"Q02297","entrez":"3084","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Holmes W.E. et al, Science, 1992, \"Identification of heregulin, a specific activator of p185erbB2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1350381/","biology":"Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. The multiple isoforms perform diverse functions such as inducing growth and differentiation of epithelial, glial, neuronal, and skeletal muscle cells; inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction; stimulating lobuloalveolar budding and milk production in the mammary gland and inducing differentiation of mammary tumour cells; stimulating Schwann cell proliferation; implication in the development of the myocardium such as trabeculation of the developing heart. Isoform 10 may play a role in motor and sensory neuron development. Binds to ERBB4. Binds to ERBB3. Location: Cell membrane; Secreted; Nucleus; Membrane (UniProt). Locus 8p12 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.68 with lung cancer (MONDO_0008903)","Thyroid cancer: Open Targets association 0.64 with thyroid cancer (MONDO_0002108)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Colorectal cancer: CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease","Head and neck squamous cell carcinoma: CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: gene fusion (atp1b1-nrg1, cd44-nrg1 and others) 0.3-1%","Non-small-cell lung cancer: rearrangement, commonly cd74-nrg1, in invasive mucinous adenocarcinoma about 0.3%"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"pancreatic","pct":"0.3-1","measure":"Gene fusion (ATP1B1-NRG1, CD44-NRG1 and others)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal structural variants: 6 of 2,336 samples, 0.26% (ATP1B1-NRG1 2, CD44-NRG1 1, NOTCH2-NRG1 1), in pdac_msk_2024 and 2 of 184, 1.1% (ATP1B1-NRG1, UBXN8-NRG1), in paad_tcga_pan_can_atlas_2018; 1.3% of 266 KRAS wild-type tumours (Philip 2022); recurrent in KRAS wild-type young adults, with ERBB inhibition giving remissions of liver metastases in 2 patients (Heining 2018); present in all 3 KRAS wild-type tumours among 47 whole genomes, with rapid responses to afatinib in 2 (Jones 2019). Zenocutuzumab gave responses in 15 of 36 pancreatic patients, 42%, in eNRGy (Schram 2025)."},{"cancerId":"nsclc","pct":0.3,"measure":"Rearrangement, commonly CD74-NRG1, in invasive mucinous adenocarcinoma","source":"https://doi.org/10.1158/1078-0432.CCR-19-0160","note":"25 of the non-small-cell lung cancers among 21,858 tumours profiled by anchored multiplex RNA sequencing carried an NRG1 fusion, 0.3% of the lung cases and the highest incidence of any tumour type in the series (Jonna 2019). cBioPortal structural variants: 7 of 2,422, 0.3%, in luad_mskcc_2023_met_organotropism; 2 of 232 in lung_nci_2022 (CD74-NRG1 and SLC3A2-NRG1); 2 of 2,621 in nsclc_ctdx_msk_2022. The fusion was discovered by transcriptome sequencing of 25 never-smoker adenocarcinomas, then found in 4 more of 102 driver-negative tumours, all of the invasive mucinous subtype (Fernandez-Cuesta 2014)."}]},{"id":"nrg2","kind":"target","name":"NRG2","aka":["neuregulin 2","Pro-neuregulin-2, membrane-bound isoform","Don-1","HRG2"],"tldr":"NRG2 (Pro-neuregulin-2, membrane-bound isoform) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. May also promote the heterodimerisation with the EGF receptor.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.74, affected pathway 0.95, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7998","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7998"},{"label":"UniProt O14511","url":"https://www.uniprot.org/uniprotkb/O14511/entry"},{"label":"NCBI Gene 9542","url":"https://www.ncbi.nlm.nih.gov/gene/9542"},{"label":"Ensembl ENSG00000158458","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158458"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NRG2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7998","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7998","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14511","url":"https://www.uniprot.org/uniprotkb/O14511/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000158458","url":"https://platform.opentargets.org/target/ENSG00000158458/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7998","ensembl":"ENSG00000158458","uniprot":"O14511","entrez":"9542","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Higashiyama et al, J. Biochem, 1997, \"A novel brain-derived member of the epidermal growth factor family that interacts with ErbB3 and ErbB4\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9348101/","biology":"Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. May also promote the heterodimerisation with the EGF receptor. Location: Cell membrane; Secreted (UniProt). Locus 5q31.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"nrg3","kind":"target","name":"NRG3","aka":["neuregulin 3","Pro-neuregulin-3, membrane-bound isoform"],"tldr":"NRG3 (Pro-neuregulin-3, membrane-bound isoform) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.70, affected pathway 0.95, genetic association 0.53).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7999","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7999"},{"label":"UniProt P56975","url":"https://www.uniprot.org/uniprotkb/P56975/entry"},{"label":"NCBI Gene 10718","url":"https://www.ncbi.nlm.nih.gov/gene/10718"},{"label":"Ensembl ENSG00000185737","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185737"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NRG3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:7999","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7999","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P56975","url":"https://www.uniprot.org/uniprotkb/P56975/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000185737","url":"https://platform.opentargets.org/target/ENSG00000185737/associations","note":"association with cancer (MONDO_0004992) 0.69;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:7999","ensembl":"ENSG00000185737","uniprot":"P56975","entrez":"10718","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, Proc. Natl. Acad. Sci. U.S.A, 1997, \"Neuregulin-3 (NRG3): a novel neural tissue-enriched protein that binds and activates ErbB4\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9275162/","biology":"Direct ligand for the ERBB4 tyrosine kinase receptor. Binding results in ligand-stimulated tyrosine phosphorylation and activation of the receptor. Does not bind to the EGF receptor, ERBB2 or ERBB3 receptors. May be a survival factor for oligodendrocytes. Location: Cell membrane; Secreted (UniProt). Locus 10q23.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"nrg4","kind":"target","name":"NRG4","aka":["neuregulin 4","Pro-neuregulin-4, membrane-bound isoform","HRG4"],"tldr":"NRG4 (Pro-neuregulin-4, membrane-bound isoform) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Low affinity ligand for the ERBB4 tyrosine kinase receptor. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. Does not bind to the ERBB1, ERBB2 and ERBB3 receptors.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.74, affected pathway 0.95, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29862","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29862"},{"label":"UniProt Q8WWG1","url":"https://www.uniprot.org/uniprotkb/Q8WWG1/entry"},{"label":"NCBI Gene 145957","url":"https://www.ncbi.nlm.nih.gov/gene/145957"},{"label":"Ensembl ENSG00000169752","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169752"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NRG4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:29862","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29862","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WWG1","url":"https://www.uniprot.org/uniprotkb/Q8WWG1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000169752","url":"https://platform.opentargets.org/target/ENSG00000169752/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:29862","ensembl":"ENSG00000169752","uniprot":"Q8WWG1","entrez":"145957","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Low affinity ligand for the ERBB4 tyrosine kinase receptor. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. Does not bind to the ERBB1, ERBB2 and ERBB3 receptors. Location: Cell membrane; Secreted (UniProt). Locus 15q24.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"nrip1","kind":"target","name":"NRIP1","aka":["nuclear receptor interacting protein 1","Nuclear receptor-interacting protein 1","RIP140"],"tldr":"NRIP1 (Nuclear receptor-interacting protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription of BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8001","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8001"},{"label":"UniProt P48552","url":"https://www.uniprot.org/uniprotkb/P48552/entry"},{"label":"NCBI Gene 8204","url":"https://www.ncbi.nlm.nih.gov/gene/8204"},{"label":"Ensembl ENSG00000180530","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000180530"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NRIP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8001","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8001","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48552","url":"https://www.uniprot.org/uniprotkb/P48552/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000180530","url":"https://platform.opentargets.org/target/ENSG00000180530/associations","note":"association with cancer (MONDO_0004992) 0.53; per-cancer scores at or above 0.5: breast cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8001","ensembl":"ENSG00000180530","uniprot":"P48552","entrez":"8204","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cavailles et al, EMBO J, 1995, \"Nuclear factor RIP140 modulates transcriptional activation by the estrogen receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7641693/","biology":"Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription of BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC. Involved in the regulation of ovarian function. Plays a role in renal development. Location: Nucleus (UniProt). Locus 21q11.2-q21.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"nrk","kind":"target","name":"NRK","aka":["Nik related kinase","Nik-related protein kinase","DKFZp686A17109"],"tldr":"NRK (Nik-related protein kinase) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"May phosphorylate cofilin-1 and induce actin polymerisation through this process, during the late stages of embryogenesis. Involved in the TNF-induced signalling pathway.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25391","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25391"},{"label":"UniProt Q7Z2Y5","url":"https://www.uniprot.org/uniprotkb/Q7Z2Y5/entry"},{"label":"NCBI Gene 203447","url":"https://www.ncbi.nlm.nih.gov/gene/203447"},{"label":"Ensembl ENSG00000123572","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123572"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NRK","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:25391","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25391","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z2Y5","url":"https://www.uniprot.org/uniprotkb/Q7Z2Y5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NRK","url":"https://www.intogen.org/search?gene=NRK","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:25391","ensembl":"ENSG00000123572","uniprot":"Q7Z2Y5","entrez":"203447","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"May phosphorylate cofilin-1 and induce actin polymerisation through this process, during the late stages of embryogenesis. Involved in the TNF-induced signalling pathway. Locus Xq22.3 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"kinase","prevalence":[]},{"id":"nsd1","kind":"target","name":"NSD1","aka":["nuclear receptor binding SET domain protein 1","Histone-lysine N-methyltransferase, H3 lysine-36 specific","ARA267","FLJ22263","KMT3B"],"tldr":"NSD1 (Histone-lysine N-methyltransferase, H3 lysine-36 specific) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Myeloproliferative neoplasms, Head and neck squamous cell carcinoma and 5 more.","summary":"Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.68, somatic mutation 0.74, genetic literature 0.83). IntOGen calls it a driver in 15 cohorts (3 activating, 12 loss-of-function), covering Bladder Urothelial Carcinoma, Cervical Adenocarcinoma, Oesophageal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Lung Squamous Cell Carcinoma, Melanoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14234","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14234"},{"label":"UniProt Q96L73","url":"https://www.uniprot.org/uniprotkb/Q96L73/entry"},{"label":"NCBI Gene 64324","url":"https://www.ncbi.nlm.nih.gov/gene/64324"},{"label":"Ensembl ENSG00000165671","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165671"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","head-and-neck","endometrial","urothelial","cervical","esophageal","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 12 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NSD1","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14234","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14234","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96L73","url":"https://www.uniprot.org/uniprotkb/Q96L73/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000165671","url":"https://platform.opentargets.org/target/ENSG00000165671/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: head and neck squamous cell carcinoma 0.54, acute myeloid leukaemia 0.66, myeloproliferative neoplasm 0.66, leukaemia 0.67 (GraphQL API, CC0)"},{"label":"IntOGen NSD1","url":"https://www.intogen.org/search?gene=NSD1","note":"driver in 15 cohorts (Act 3, LoF 12); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14234","ensembl":"ENSG00000165671","uniprot":"Q96L73","entrez":"64324","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang et al, J. Biol. Chem, 2001, \"Identification and characterization of a novel androgen receptor coregulator ARA267-alpha in prostate cancer cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11509567/","biology":"Histone methyltransferase that dimethylates Lys-36 of histone H3 (H3K36me2). Transcriptional intermediary factor capable of both negatively or positively influencing transcription, depending on the cellular context. Location: Nucleus; Chromosome (UniProt). Locus 5q35.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.67 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.66 with myeloproliferative neoplasm (MONDO_0020076)","Head and neck squamous cell carcinoma: Open Targets association 0.54 with head and neck squamous cell carcinoma (MONDO_0010150); IntOGen driver in 4 cohorts (HNSC)","Endometrial cancer: IntOGen driver in 2 cohorts (UCEC)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Cervical cancer: IntOGen driver in 1 cohort (CEAD)"],"targetClass":"transcription","prevalence":[]},{"id":"nsd2","kind":"target","name":"NSD2","aka":["nuclear receptor binding SET domain protein 2","Histone-lysine N-methyltransferase NSD2","MMSET","KMT3G","WHSC1"],"tldr":"NSD2 (Histone-lysine N-methyltransferase NSD2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Multiple myeloma, Bladder & urothelial cancer, Lung cancer and 5 more.","summary":"Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro. Does not trimethylate nucleosomal histone H3 at 'Lys-36' (H3K36me3).\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.83). IntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Acute Lymphoblastic Leukaemia, Burkitt Lymphoma, Plasma Cell Myeloma, Upper Tract Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12766","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12766"},{"label":"UniProt O96028","url":"https://www.uniprot.org/uniprotkb/O96028/entry"},{"label":"NCBI Gene 7468","url":"https://www.ncbi.nlm.nih.gov/gene/7468"},{"label":"Ensembl ENSG00000109685","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109685"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["multiple-myeloma","urothelial","lung-cancer","breast-cancer","non-hodgkin-lymphoma","head-and-neck","leukaemia","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NSD2","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12766","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12766","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O96028","url":"https://www.uniprot.org/uniprotkb/O96028/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NSD2","url":"https://civicdb.org/features/6107","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000109685","url":"https://platform.opentargets.org/target/ENSG00000109685/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: colorectal cancer 0.51, head and neck squamous cell carcinoma 0.52, non-Hodgkin lymphoma 0.53, breast cancer 0.54, lung cancer 0.54, leukaemia 0.51 (GraphQL API, CC0)"},{"label":"IntOGen NSD2","url":"https://www.intogen.org/search?gene=NSD2","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA NSD2: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining colorectal cancer (10 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Bladder & urothelial cancer, Lung cancer (all types), Breast cancer (all types), Lymphoma, Head and neck squamous cell carcinoma, Leukaemia and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O96028","url":"https://www.uniprot.org/uniprotkb/O96028/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NSD2","url":"https://civicdb.org/features/6107","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen NSD2","url":"https://www.intogen.org/search?gene=NSD2","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas NSD2 tissue","url":"https://www.proteinatlas.org/ENSG00000109685-NSD2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000109685 associations","url":"https://platform.opentargets.org/target/ENSG00000109685/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12766","ensembl":"ENSG00000109685","uniprot":"O96028","entrez":"7468","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chesi et al, Blood, 1998, \"The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9787135/","biology":"Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at 'Lys-36' (H3K36me2). Also monomethylates nucleosomal histone H3 at 'Lys-36' (H3K36me) in vitro. Does not trimethylate nucleosomal histone H3 at 'Lys-36' (H3K36me3). However, specifically trimethylates histone H3 at 'Lys-36' (H3K36me3) at euchromatic regions in embryonic stem (ES) cells. By methylating histone H3 at 'Lys-36', involved in the regulation of gene transcription during various biological processes. In ES cells, associates with developmental transcription factors such as SALL1 and represses inappropriate gene transcription mediated by histone deacetylation. Location: Nucleus; Chromosome; Cytoplasm; Nucleus, nucleolus (UniProt). Locus 4p16.3 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Non-Hodgkin lymphoma: Open Targets association 0.53 with non-Hodgkin lymphoma (MONDO_0018908)","Head and neck squamous cell carcinoma: Open Targets association 0.52 with head and neck squamous cell carcinoma (MONDO_0010150)"],"targetClass":"transcription","prevalence":[]},{"id":"nsd3","kind":"target","name":"NSD3","aka":["nuclear receptor binding SET domain protein 3","Histone-lysine N-methyltransferase NSD3","FLJ20353","WHISTLE","KMT3F","WHSC1L1"],"tldr":"NSD3 (Histone-lysine N-methyltransferase NSD3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Skin cancer, Colorectal cancer and 1 more.","summary":"Histone methyltransferase. Preferentially dimethylates 'Lys-4' and 'Lys-27' of histone H3 forming H3K4me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.19, somatic mutation 0.83). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12767"},{"label":"UniProt Q9BZ95","url":"https://www.uniprot.org/uniprotkb/Q9BZ95/entry"},{"label":"NCBI Gene 54904","url":"https://www.ncbi.nlm.nih.gov/gene/54904"},{"label":"Ensembl ENSG00000147548","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147548"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","colorectal","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NSD3","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12767","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12767","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BZ95","url":"https://www.uniprot.org/uniprotkb/Q9BZ95/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147548","url":"https://platform.opentargets.org/target/ENSG00000147548/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: colorectal cancer 0.51, skin cancer 0.52, breast cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen NSD3","url":"https://www.intogen.org/search?gene=NSD3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12767","ensembl":"ENSG00000147548","uniprot":"Q9BZ95","entrez":"54904","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xu et al, 2000, \"A novel gene from human dendritic cells\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9BZ95/entry","biology":"Histone methyltransferase. Preferentially dimethylates 'Lys-4' and 'Lys-27' of histone H3 forming H3K4me2 and H3K27me2. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation, while 'Lys-27' is a mark for transcriptional repression. Location: Nucleus; Chromosome (UniProt). Locus 8p11.23 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nt5c2","kind":"target","name":"NT5C2","aka":["5'-nucleotidase, cytosolic II","Cytosolic purine 5'-nucleotidase","PNT5","cN-II","SPG65","NT5B","SPG45"],"tldr":"NT5C2 (Cytosolic purine 5'-nucleotidase) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Breast cancer and 1 more.","summary":"Broad specificity cytosolic 5'-nucleotidase that catalyses the dephosphorylation of 6-hydroxypurine nucleoside 5'-monophosphates. In addition, possesses a phosphotransferase activity by which it can transfer a phosphate from a donor nucleoside monophosphate to an acceptor nucleoside, preferably inosine, deoxyinosine and guanosine. Has the highest activities for IMP and GMP followed by dIMP, dGMP and XMP.\n\nCIViC holds 18 clinical evidence items and 0 assertions across 6 variants, naming Mercaptopurine, Thioguanine, Nelarabine and Arabinosylguanine and others. Open Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.75, genetic association 0.00, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8022","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8022"},{"label":"UniProt P49902","url":"https://www.uniprot.org/uniprotkb/P49902/entry"},{"label":"NCBI Gene 22978","url":"https://www.ncbi.nlm.nih.gov/gene/22978"},{"label":"Ensembl ENSG00000076685","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000076685"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","breast-cancer","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 8 therapies; CIViC holds 18 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Childhood Acute Lymphocytic Leukaemia; T-cell Acute Lymphoblastic Leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NT5C2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8022","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8022","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49902","url":"https://www.uniprot.org/uniprotkb/P49902/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NT5C2","url":"https://civicdb.org/features/9189","note":"18 evidence items, 0 assertions, 6 variants; diseases: Childhood Acute Lymphocytic Leukaemia, T-cell Acute Lymphoblastic Leukaemia, Acute Lymphoblastic Leukaemia, B-lymphoblastic Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000076685","url":"https://platform.opentargets.org/target/ENSG00000076685/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.53, non-Hodgkin lymphoma 0.55, breast cancer 0.50, leukaemia 0.55 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA NT5C2: RNA low tissue specificity; no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NT5C2 tissue","url":"https://www.proteinatlas.org/ENSG00000076685-NT5C2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000076685 associations","url":"https://platform.opentargets.org/target/ENSG00000076685/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8022","ensembl":"ENSG00000076685","uniprot":"P49902","entrez":"22978","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Oka et al, Biochem. Biophys. Res. Commun, 1994, \"Molecular cloning of human cytosolic purine 5'-nucleotidase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7999131/","biology":"Broad specificity cytosolic 5'-nucleotidase that catalyses the dephosphorylation of 6-hydroxypurine nucleoside 5'-monophosphates. In addition, possesses a phosphotransferase activity by which it can transfer a phosphate from a donor nucleoside monophosphate to an acceptor nucleoside, preferably inosine, deoxyinosine and guanosine. Has the highest activities for IMP and GMP followed by dIMP, dGMP and XMP. Could also catalyse the transfer of phosphates from pyrimidine monophosphates but with lower efficiency. Through these activities regulates the purine nucleoside/nucleotide pools within the cell. Location: Cytoplasm, cytosol (UniProt). Locus 10q24.32-q24.33 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.55 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Breast cancer: Open Targets association 0.50 with breast cancer (MONDO_0007254)","Acute lymphoblastic leukaemia: Open Targets association 0.53 with acute lymphoblastic leukaemia (MONDO_0004967); CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"nt5c3a","kind":"target","name":"NT5C3A","aka":["5'-nucleotidase, cytosolic IIIA","Cytosolic 5'-nucleotidase 3A","UMPH1","PSN1","PN-I","P5'N-1","cN-III","p36","hUMP1","NT5C3"],"tldr":"NT5C3A (Cytosolic 5'-nucleotidase 3A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP). CMP seems to be the preferred substrate.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17820"},{"label":"UniProt Q9H0P0","url":"https://www.uniprot.org/uniprotkb/Q9H0P0/entry"},{"label":"NCBI Gene 51251","url":"https://www.ncbi.nlm.nih.gov/gene/51251"},{"label":"Ensembl ENSG00000122643","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122643"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NT5C3A","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:17820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17820","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H0P0","url":"https://www.uniprot.org/uniprotkb/Q9H0P0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NT5C3A","url":"https://www.intogen.org/search?gene=NT5C3A","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:17820","ensembl":"ENSG00000122643","uniprot":"Q9H0P0","entrez":"51251","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rich S.A. et al, J. Biol. Chem, 1996, \"Purification, microsequencing, and immunolocalization of p36, a new interferon-alpha-induced protein that is associated with human lupus inclusions\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8557639/","biology":"Nucleotidase which shows specific activity towards cytidine monophosphate (CMP) and 7-methylguanosine monophosphate (m(7)GMP). CMP seems to be the preferred substrate. Location: Cytoplasm; Endoplasmic reticulum (UniProt). Locus 7p14.3 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"nthl1","kind":"target","name":"NTHL1","aka":["nth like DNA glycosylase 1","Endonuclease III-like protein 1","NTH1","OCTS3"],"tldr":"NTHL1 (Endonuclease III-like protein 1) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyses the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.91, literature 0.93, genetic association 0.61, somatic mutation 0.49, animal model 0.47).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8028","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8028"},{"label":"UniProt P78549","url":"https://www.uniprot.org/uniprotkb/P78549/entry"},{"label":"NCBI Gene 4913","url":"https://www.ncbi.nlm.nih.gov/gene/4913"},{"label":"Ensembl ENSG00000065057","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000065057"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NTHL1","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8028","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8028","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78549","url":"https://www.uniprot.org/uniprotkb/P78549/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000065057","url":"https://platform.opentargets.org/target/ENSG00000065057/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: colorectal cancer 0.58 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8028","ensembl":"ENSG00000065057","uniprot":"P78549","entrez":"4913","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hilbert T.P. et al, J. Biol. Chem, 1997, \"Cloning and expression of the cDNA encoding the human homologue of the DNA repair enzyme, Escherichia coli endonuclease III\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9045706/","biology":"Bifunctional DNA N-glycosylase with associated apurinic/apyrimidinic (AP) lyase function that catalyses the first step in base excision repair (BER), the primary repair pathway for the repair of oxidative DNA damage. The DNA N-glycosylase activity releases the damaged DNA base from DNA by cleaving the N-glycosidic bond, leaving an AP site. The AP-lyase activity cleaves the phosphodiester bond 3' to the AP site by a beta-elimination. Primarily recognises and repairs oxidative base damage of pyrimidines. Also has 8-oxo-7,8-dihydroguanine (8-oxoG) DNA glycosylase activity. Acts preferentially on DNA damage opposite guanine residues in DNA. Location: Nucleus; Mitochondrion (UniProt). Locus 16p13.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.58 with colorectal cancer (MONDO_0005575)"],"targetClass":"enzyme","prevalence":[]},{"id":"ntrk","kind":"target","name":"NTRK","aka":[],"tldr":"Rare gene fusions found across dozens of cancer types; the first target where a drug was approved for any tumour carrying it.","summary":"NTRK1, NTRK2 and NTRK3 encode the neurotrophin receptor kinases TrkA, TrkB and TrkC, and gene fusions lock them permanently on. Fusions are rare, under 1 percent of common adult cancers, yet near-universal in infantile fibrosarcoma (ETV6-NTRK3) and secretory carcinoma of breast and salivary gland, with 2 to 3 percent of thyroid cancers and rare colorectal cases enriched in MSI-high disease. Larotrectinib and entrectinib were the first kinase inhibitors approved on a tumour-agnostic basis (2018 to 2019), meaning any tumour with the fusion qualifies. Repotrectinib addresses acquired resistance mutations in the kinase domain. The open challenge is detection, because fusions this rare are only found when RNA-based or broad DNA panels are used routinely. The plain version: NTRK was the first target where a drug was approved for any cancer carrying it.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Trk_receptor","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Trk_receptor"}],"tags":["driver","tumour-agnostic"],"related":["ntrk-fusion"],"cancers":["sarcoma","thyroid","colorectal","pancreatic","gallbladder","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["trk-950"],"companies":["lucence"],"institutions":[],"pathways":["ras-mapk","thyroid-cancer-signalling"],"terms":["gene-fusion","tumour-agnostic"],"trials":["nct06010342"],"people":[],"bottlenecks":[],"keyPapers":["paper-philip-kras-wild-type-pancreatic-ccr-2022","paper-oreilly-hechtman-ntrk-fusion-pancreatic-larotrectinib-ann-oncol-2019","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-cowzer-biliary-targeted-therapy-determinants-ccr-2026"],"journals":[],"dependsOn":[],"notes":["Pancreatic ductal adenocarcinoma: NTRK fusions in about 0.4% (ETV6-NTRK3 and CTRC-NTRK1 the commonest; cBioPortal pdac_msk_2024), enriched in KRAS wild-type disease. A CTRC-NTRK1 fusion cancer responded to larotrectinib for six months under the tumour-agnostic approval before acquiring resistance (O'Reilly and Hechtman 2019).","Colorectal cancer: NTRK1 and NTRK3 fusions in about 0.2 to 0.3% (LMNA-NTRK1 and ETV6-NTRK3 the commonest; cBioPortal), concentrated in RAS and BRAF wild-type, mismatch repair deficient, right-sided tumours. The approvals, larotrectinib and entrectinib, are tumour-agnostic; the practical rule is to run a fusion assay when a right-sided MSI-high tumour reads wild-type on a DNA panel.","Gallbladder cancer: one LMNA::NTRK1 fusion patient among 233 in cBioPortal gbc_mskcc_2022 (about 0.4%); NTRK-driven biliary tumours retained the driver at progression (Cowzer 2026).","Lung cancer: fusions in about 0.2% of adenocarcinomas (cBioPortal), the rarest of the licensed targets and covered by a tumour-agnostic approval rather than a lung indication. NTRK point mutations read 2 to 8% on exome panels and are passengers."],"symbol":"NTRK1/2/3","role":[],"sources":[],"specificity":"tumour-specific","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (NTRK1/2/3 gene fusion) absent from normal cells. HPA NTRK1: RNA tissue enhanced (adrenal gland 7 nTPM); blood lineage lineage enriched (granulocytes 95 nTPM); no normal tissue stained high. HPA NTRK2: RNA tissue enhanced (brain 233 nTPM, thyroid gland 118 nTPM); high antibody staining in 2 normal tissues. HPA NTRK3: RNA group enriched (blood vessel 67 nTPM, brain 28 nTPM); high antibody staining in 1 normal tissue; highest cancer staining ovarian cancer (1 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Thyroid cancer, Colorectal cancer, Biliary tract cancer (all types)); approvals of single-target medicines aimed at it also list Salivary gland cancers, Lung cancer (all types), Pancreatic ductal adenocarcinoma, not counted; Open Targets associates it with 3 specific cancer types at or above 0.5 (non-small cell lung carcinoma, colorectal cancer, familial medullary thyroid carcinoma). Tissue-agnostic: NTRK1/2/3 gene fusion threshold \"NTRK gene fusion without a known acquired resistance mutation\" for Larotrectinib is tissue-agnostic; NTRK1/2/3 gene fusion threshold \"NTRK gene fusion in tumour or plasma\" for Entrectinib is tissue-agnostic; Entrectinib JP 2019: \"NTRK fusion solid tumours\". (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"NTRK1/2/3 gene fusion label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=0c8ca614-58b2-4aa4-83d3-0387a8f782fd","note":"NTRK gene fusion without a known acquired resistance mutation"},{"label":"Human Protein Atlas NTRK1 tissue","url":"https://www.proteinatlas.org/ENSG00000198400-NTRK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas NTRK2 tissue","url":"https://www.proteinatlas.org/ENSG00000148053-NTRK2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas NTRK3 tissue","url":"https://www.proteinatlas.org/ENSG00000140538-NTRK3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"NTRK1/2/3 gene fusion label","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=c7c71b0c-2549-4495-86b6-c2807fa54908","note":"NTRK gene fusion in tumour or plasma"},{"label":"Open Targets ENSG00000198400 associations","url":"https://platform.opentargets.org/target/ENSG00000198400/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000148053 associations","url":"https://platform.opentargets.org/target/ENSG00000148053/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"NTRK1/2/3 encode the neurotrophin receptor kinases TrkA, TrkB and TrkC.","whereFound":["Infantile fibrosarcoma","Secretory breast/salivary carcinoma","Thyroid, colorectal, lung (rare)","Pancreatic ductal adenocarcinoma: gene fusion (etv6-ntrk3, ctrc-ntrk1) 0.4%","Colorectal cancer: gene fusion (lmna-ntrk1, etv6-ntrk3) 0.2-0.3%","Gallbladder cancer: gene fusion 0.4%","Non-small-cell lung cancer: ntrk1, ntrk2 or ntrk3 rearrangement about 0.2%"],"targetClass":"kinase","prevalence":[{"cancerId":"sarcoma","pct":">90","measure":"Infantile fibrosarcoma (ETV6-NTRK3)","source":"https://en.wikipedia.org/wiki/Trk_receptor","note":"<1% in adult common cancers"},{"cancerId":"thyroid","pct":"2-3","measure":"Fusion","source":"https://en.wikipedia.org/wiki/Trk_receptor"},{"cancerId":"colorectal","pct":"<1","measure":"Fusion","source":"https://en.wikipedia.org/wiki/Trk_receptor","note":"Enriched in MSI-high"},{"cancerId":"pancreatic","pct":"0.4","measure":"Gene fusion (ETV6-NTRK3, CTRC-NTRK1)","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal structural variants: 9 of 2,336, 0.4% (ETV6-NTRK3 3, CTRC-NTRK1 2, EML4-NTRK1, COP1-NTRK1), in pdac_msk_2024; 2 of 184 (CEL-NTRK1, EML4-NTRK3) in paad_tcga_pan_can_atlas_2018; NTRK amplification 1.8% of 266 KRAS wild-type tumours (Philip 2022). A CTRC-NTRK1 fusion cancer responded to larotrectinib for 6 months before resistance (O'Reilly and Hechtman 2019)."},{"cancerId":"colorectal","pct":"0.2-0.3","measure":"Gene fusion (LMNA-NTRK1, ETV6-NTRK3)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal structural variants: NTRK1 in 13 of 7,237, 0.18% (LMNA-NTRK1 6), and NTRK3 in 5, in crc_msk_2026; NTRK1 in 5 of 1,134 (LMNA-NTRK1 4) in crc_msk_2017; NTRK3 in 3 of 594 (ETV6-NTRK3 2) in coadread_tcga_pan_can_atlas_2018; NTRK1 in 4 of 1,516 in crc_eo_2020."},{"cancerId":"gallbladder","pct":"0.4","measure":"Gene fusion","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"One LMNA::NTRK1 fusion patient (four samples) among 233 patients in cBioPortal gbc_mskcc_2022, about 0.4%; NTRK1 fusions named among the actionable alterations (Giraldo 2022); NTRK-driven biliary tumours retained the driver at progression (Cowzer 2026)."},{"cancerId":"nsclc","pct":0.2,"measure":"NTRK1, NTRK2 or NTRK3 rearrangement","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal structural variants: 5 of 2,422, 0.2%, in luad_mskcc_2023_met_organotropism; 1 of 2,621, 0.04%, in nsclc_ctdx_msk_2022; 1 of 510 in luad_tcga_pan_can_atlas_2018."}]},{"id":"nudt15","kind":"target","name":"NUDT15","aka":["nudix hydrolase 15","Nucleotide triphosphate diphosphatase NUDT15","MTH2","FLJ10956"],"tldr":"NUDT15 (Nucleotide triphosphate diphosphatase NUDT15) is an enzyme. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it.","summary":"Catalyses the hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, their oxidised forms like 8-oxo-dGTP and the prodrug thiopurine derivatives 6-thio-dGTP and 6-thio-GTP. Could also catalyse the hydrolysis of some nucleoside diphosphate derivatives. Hydrolyses oxidised nucleosides triphosphates like 8-oxo-dGTP in vitro, but the specificity and efficiency towards these substrates are low.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Mercaptopurine, Thioguanine and Azathioprine. In OnCo, 1 product record names it (Mercaptopurine).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23063","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23063"},{"label":"UniProt Q9NV35","url":"https://www.uniprot.org/uniprotkb/Q9NV35/entry"},{"label":"NCBI Gene 55270","url":"https://www.ncbi.nlm.nih.gov/gene/55270"},{"label":"Ensembl ENSG00000136159","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136159"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["mercaptopurine"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Childhood Acute Lymphocytic Leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NUDT15","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:23063","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23063","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NV35","url":"https://www.uniprot.org/uniprotkb/Q9NV35/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene NUDT15","url":"https://civicdb.org/features/12881","note":"1 evidence items, 0 assertions, 1 variants; diseases: Childhood Acute Lymphocytic Leukaemia (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Mercaptopurine) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA NUDT15: RNA low tissue specificity; high antibody staining in 25 normal tissues; highest cancer staining endometrial cancer (6 of 11 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas NUDT15 tissue","url":"https://www.proteinatlas.org/ENSG00000136159-NUDT15/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136159 associations","url":"https://platform.opentargets.org/target/ENSG00000136159/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:23063","ensembl":"ENSG00000136159","uniprot":"Q9NV35","entrez":"55270","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Catalyses the hydrolysis of nucleoside triphosphates including dGTP, dTTP, dCTP, their oxidised forms like 8-oxo-dGTP and the prodrug thiopurine derivatives 6-thio-dGTP and 6-thio-GTP. Could also catalyse the hydrolysis of some nucleoside diphosphate derivatives. Hydrolyses oxidised nucleosides triphosphates like 8-oxo-dGTP in vitro, but the specificity and efficiency towards these substrates are low. Therefore, the potential in vivo sanitising role of this enzyme, that would consist in removing oxidatively damaged forms of nucleosides to prevent their incorporation into DNA, is unclear. Through the hydrolysis of thioguanosine triphosphates may participate in the catabolism of thiopurine drugs. May also have a role in DNA synthesis and cell cycle progression by stabilising PCNA. Locus 13q14.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"numa1","kind":"target","name":"NUMA1","aka":["nuclear mitotic apparatus protein 1","Nuclear mitotic apparatus protein 1"],"tldr":"NUMA1 (Nuclear mitotic apparatus protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Oesophageal cancer and Oesophageal and junctional adenocarcinoma.","summary":"Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division. Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles. Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8059","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8059"},{"label":"UniProt Q14980","url":"https://www.uniprot.org/uniprotkb/Q14980/entry"},{"label":"NCBI Gene 4926","url":"https://www.ncbi.nlm.nih.gov/gene/4926"},{"label":"Ensembl ENSG00000137497","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137497"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer","esophageal","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NUMA1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8059","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8059","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14980","url":"https://www.uniprot.org/uniprotkb/Q14980/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NUMA1","url":"https://www.intogen.org/search?gene=NUMA1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8059","ensembl":"ENSG00000137497","uniprot":"Q14980","entrez":"4926","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yang C.H. et al, J. Cell Biol, 1992, \"NuMA: an unusually long coiled-coil related protein in the mammalian nucleus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1541630/","biology":"Microtubule (MT)-binding protein that plays a role in the formation and maintenance of the spindle poles and the alignement and the segregation of chromosomes during mitotic cell division. Functions to tether the minus ends of MTs at the spindle poles, which is critical for the establishment and maintenance of the spindle poles. Plays a role in the establishment of the mitotic spindle orientation during metaphase and elongation during anaphase in a dynein-dynactin-dependent manner. In metaphase, part of a ternary complex composed of GPSM2 and G(i) alpha proteins, that regulates the recruitment and anchorage of the dynein-dynactin complex in the mitotic cell cortex regions situated above the two spindle poles, and hence regulates the correct oritentation of the mitotic spindle. During anaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical region through direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulation of the spindle elongation and chromosome segregation. Also binds to other polyanionic phosphoinositides, such as phosphatidylinositol 3-phosphate (PIP), lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate (PIP3), in vitro. Location: Nucleus; Nucleus, nucleoplasm; Nucleus matrix; Chromosome (UniProt). Locus 11q13.4 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nup214","kind":"target","name":"NUP214","aka":["nucleoporin 214","Nuclear pore complex protein Nup214","D9S46E","N214"],"tldr":"NUP214 (Nuclear pore complex protein Nup214) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Non-Hodgkin lymphoma, Renal cell carcinoma and 4 more.","summary":"Part of the nuclear pore complex. Has a critical role in nucleocytoplasmic transport. May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.28, somatic mutation 0.76). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Papillary Renal Cell Carcinoma, Small Intestinal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8064","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064"},{"label":"UniProt P35658","url":"https://www.uniprot.org/uniprotkb/P35658/entry"},{"label":"NCBI Gene 8021","url":"https://www.ncbi.nlm.nih.gov/gene/8021"},{"label":"Ensembl ENSG00000126883","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126883"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","rcc","small-bowel","myeloproliferative-neoplasms","papillary-rcc","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NUP214","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8064","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8064","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35658","url":"https://www.uniprot.org/uniprotkb/P35658/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000126883","url":"https://platform.opentargets.org/target/ENSG00000126883/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.55, non-Hodgkin lymphoma 0.59, myeloproliferative neoplasm 0.53, leukaemia 0.60 (GraphQL API, CC0)"},{"label":"IntOGen NUP214","url":"https://www.intogen.org/search?gene=NUP214","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8064","ensembl":"ENSG00000126883","uniprot":"P35658","entrez":"8021","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Von Lindern et al, Mol. Cell. Biol, 1992, \"The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1549122/","biology":"Part of the nuclear pore complex. Has a critical role in nucleocytoplasmic transport. May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex. Location: Nucleus, nuclear pore complex (UniProt). Locus 9q34.13 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)","Small intestine cancer: IntOGen driver in 1 cohort (SIC)","Myeloproliferative neoplasms: Open Targets association 0.53 with myeloproliferative neoplasm (MONDO_0020076)","Papillary renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)"],"targetClass":"oncogene","prevalence":[]},{"id":"nup98","kind":"target","name":"NUP98","aka":["nucleoporin 98 and 96 precursor","Nuclear pore complex protein Nup98-Nup96","NUP96","Nup98-Nup96","Nup98-96","NUP196"],"tldr":"NUP98 (Nuclear pore complex protein Nup98-Nup96) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer, Lung cancer, Leukaemia and 3 more.","summary":"Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8068","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8068"},{"label":"UniProt P52948","url":"https://www.uniprot.org/uniprotkb/P52948/entry"},{"label":"NCBI Gene 4928","url":"https://www.ncbi.nlm.nih.gov/gene/4928"},{"label":"Ensembl ENSG00000110713","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110713"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","lung-cancer","leukaemia","breast-cancer","nsclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NUP98","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8068","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8068","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P52948","url":"https://www.uniprot.org/uniprotkb/P52948/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000110713","url":"https://platform.opentargets.org/target/ENSG00000110713/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: melanoma 0.52, skin cancer 0.55, breast cancer 0.52, lung cancer 0.54, leukaemia 0.54 (GraphQL API, CC0)"},{"label":"IntOGen NUP98","url":"https://www.intogen.org/search?gene=NUP98","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8068","ensembl":"ENSG00000110713","uniprot":"P52948","entrez":"4928","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Borrow et al, Nat. Genet, 1996, \"The t(7;11)(p15;p15) translocation in acute myeloid leukaemia fuses the genes for nucleoporin NUP98 and class I homeoprotein HOXA9\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8563754/","biology":"Plays a role in the nuclear pore complex (NPC) assembly and/or maintenance. NUP98 and NUP96 are involved in the bidirectional transport across the NPC. May anchor NUP153 and TPR to the NPC. In cooperation with DHX9, plays a role in transcription and alternative splicing activation of a subset of genes. Involved in the localisation of DHX9 in discrete intranuclear foci (GLFG-body). Binding affinity to HIV-1 CA-NC complexes bearing the capsid change Asn-74-Asp is reduced (in vitro). Location: Nucleus membrane; Nucleus, nuclear pore complex; Nucleus, nucleoplasm (UniProt). Locus 11p15.4 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"nutm1","kind":"target","name":"NUTM1","aka":["NUT midline carcinoma family member 1","NUT family member 1","DKFZp434O192","FAM22H","C15orf55"],"tldr":"NUTM1 (NUT family member 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer, Oesophageal cancer, Ovarian cancer and 4 more.","summary":"Plays a role in the regulation of proliferation. Regulates TERT expression by modulating SP1 binding to TERT promoter binding sites.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.84, affected pathway 0.61, genetic association 0.00, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Oesophageal Adenocarcinoma, Ovarian Epithelial Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29919"},{"label":"UniProt Q86Y26","url":"https://www.uniprot.org/uniprotkb/Q86Y26/entry"},{"label":"NCBI Gene 256646","url":"https://www.ncbi.nlm.nih.gov/gene/256646"},{"label":"Ensembl ENSG00000184507","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184507"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","esophageal","ovarian","lung-cancer","oesophageal-adenocarcinoma","melanoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NUTM1","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:29919","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29919","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86Y26","url":"https://www.uniprot.org/uniprotkb/Q86Y26/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184507","url":"https://platform.opentargets.org/target/ENSG00000184507/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.53, melanoma 0.56, skin cancer 0.59, lung cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen NUTM1","url":"https://www.intogen.org/search?gene=NUTM1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:29919","ensembl":"ENSG00000184507","uniprot":"Q86Y26","entrez":"256646","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: French C.A. et al, Cancer Res, 2003, \"BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12543779/","biology":"Plays a role in the regulation of proliferation. Regulates TERT expression by modulating SP1 binding to TERT promoter binding sites. Location: Cytoplasm; Nucleus (UniProt). Locus 15q14 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.59 with skin cancer (MONDO_0002898)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Lung cancer: Open Targets association 0.56 with lung cancer (MONDO_0008903)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)","Melanoma: Open Targets association 0.56 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"nutm2b","kind":"target","name":"NUTM2B","aka":["NUT family member 2B","bA119F19.1","FAM22B"],"tldr":"NUTM2B (NUT family member 2B) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Sarcomas.","summary":"UniProt has no function text for A6NNL0; HGNC names it \"NUT family member 2B\".\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.70, genetic association 0.00, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23445","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23445"},{"label":"UniProt A6NNL0","url":"https://www.uniprot.org/uniprotkb/A6NNL0/entry"},{"label":"NCBI Gene 729262","url":"https://www.ncbi.nlm.nih.gov/gene/729262"},{"label":"Ensembl ENSG00000188199","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000188199"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NUTM2B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23445","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23445","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt A6NNL0","url":"https://www.uniprot.org/uniprotkb/A6NNL0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000188199","url":"https://platform.opentargets.org/target/ENSG00000188199/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: sarcoma 0.58 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:23445","ensembl":"ENSG00000188199","uniprot":"A6NNL0","entrez":"729262","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deloukas et al, Nature, 2004, \"The DNA sequence and comparative analysis of human chromosome 10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15164054/","biology":"UniProt has no function text for A6NNL0; HGNC names it \"NUT family member 2B\". Locus 10q22.3 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.58 with sarcoma (MONDO_0005089)"],"targetClass":"other","prevalence":[]},{"id":"nutm2d","kind":"target","name":"NUTM2D","aka":["NUT family member 2D","FAM22D"],"tldr":"NUTM2D (NUT family member 2D) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Nasopharyngeal carcinoma.","summary":"UniProt has no function text for Q5VT03; HGNC names it \"NUT family member 2D\".\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Nasopharyngeal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23447","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23447"},{"label":"UniProt Q5VT03","url":"https://www.uniprot.org/uniprotkb/Q5VT03/entry"},{"label":"NCBI Gene 728130","url":"https://www.ncbi.nlm.nih.gov/gene/728130"},{"label":"Ensembl ENSG00000214562","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000214562"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nasopharyngeal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NUTM2D","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:23447","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23447","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5VT03","url":"https://www.uniprot.org/uniprotkb/Q5VT03/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NUTM2D","url":"https://www.intogen.org/search?gene=NUTM2D","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:23447","ensembl":"ENSG00000214562","uniprot":"Q5VT03","entrez":"728130","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deloukas et al, Nature, 2004, \"The DNA sequence and comparative analysis of human chromosome 10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15164054/","biology":"UniProt has no function text for Q5VT03; HGNC names it \"NUT family member 2D\". Locus 10q23.2 (HGNC).","whereFound":["Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)"],"targetClass":"oncogene","prevalence":[]},{"id":"nvl","kind":"target","name":"NVL","aka":["nuclear VCP like","Nuclear valosin-containing protein-like","NVL2"],"tldr":"NVL (Nuclear valosin-containing protein-like) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Glioma & glioblastoma.","summary":"Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT. Involved in both early and late stages of the pre-rRNA processing pathways. Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Glioblastoma Multiforme.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8070","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8070"},{"label":"UniProt O15381","url":"https://www.uniprot.org/uniprotkb/O15381/entry"},{"label":"NCBI Gene 4931","url":"https://www.ncbi.nlm.nih.gov/gene/4931"},{"label":"Ensembl ENSG00000143748","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143748"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct05118789","nct06765109"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NVL","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8070","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8070","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15381","url":"https://www.uniprot.org/uniprotkb/O15381/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NVL","url":"https://www.intogen.org/search?gene=NVL","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8070","ensembl":"ENSG00000143748","uniprot":"O15381","entrez":"4931","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Germain-Lee E.L. et al, Genomics, 1997, \"NVL: a new member of the AAA family of ATPases localized to the nucleus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9286697/","biology":"Participates in the assembly of the telomerase holoenzyme and effecting of telomerase activity via its interaction with TERT. Involved in both early and late stages of the pre-rRNA processing pathways. Spatiotemporally regulates 60S ribosomal subunit biogenesis in the nucleolus. Catalyses the release of specific assembly factors, such as WDR74, from pre-60S ribosomal particles through the ATPase activity. Location: Nucleus, nucleoplasm; Nucleus, nucleolus (UniProt). Locus 1q42.11 (HGNC).","whereFound":["Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"oncogene","prevalence":[]},{"id":"nxf1","kind":"target","name":"NXF1","aka":["nuclear RNA export factor 1","Nuclear RNA export factor 1","Mex67","DKFZp667O0311"],"tldr":"NXF1 (Nuclear RNA export factor 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Chronic lymphocytic leukaemia.","summary":"Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex. ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export.\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8071","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8071"},{"label":"UniProt Q9UBU9","url":"https://www.uniprot.org/uniprotkb/Q9UBU9/entry"},{"label":"NCBI Gene 10482","url":"https://www.ncbi.nlm.nih.gov/gene/10482"},{"label":"Ensembl ENSG00000162231","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162231"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"NXF1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8071","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8071","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UBU9","url":"https://www.uniprot.org/uniprotkb/Q9UBU9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen NXF1","url":"https://www.intogen.org/search?gene=NXF1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8071","ensembl":"ENSG00000162231","uniprot":"Q9UBU9","entrez":"10482","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yoon D.-W. et al, Immunity, 1997, \"Tap: a novel cellular protein that interacts with tip of herpesvirus saimiri and induces lymphocyte aggregation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9175835/","biology":"Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex. ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export. Also involved in nuclear export of m6A-containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export. Location: Nucleus; Nucleus, nucleoplasm; Nucleus speckle; Nucleus, nuclear pore complex (UniProt). Locus 11q12.3 (HGNC).","whereFound":["Chronic lymphocytic leukaemia: IntOGen driver in 2 cohorts (CLLSLL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"oca2","kind":"target","name":"OCA2","aka":["OCA2 melanosomal transmembrane protein","P protein","BEY1","BEY2","SLC13B1","D15S12","EYCL3","EYCL2"],"tldr":"OCA2 (P protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Melanoma and Basal cell carcinoma.","summary":"Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation. One of the components of the mammalian pigmentary system. May serve as a key control point at which ethnic skin colour variation is determined.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.45, animal model 0.63, genetic association 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8101","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8101"},{"label":"UniProt Q04671","url":"https://www.uniprot.org/uniprotkb/Q04671/entry"},{"label":"NCBI Gene 4948","url":"https://www.ncbi.nlm.nih.gov/gene/4948"},{"label":"Ensembl ENSG00000104044","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104044"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","melanoma","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"OCA2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8101","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8101","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q04671","url":"https://www.uniprot.org/uniprotkb/Q04671/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104044","url":"https://platform.opentargets.org/target/ENSG00000104044/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: melanoma 0.59, skin cancer 0.63, basal cell carcinoma 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8101","ensembl":"ENSG00000104044","uniprot":"Q04671","entrez":"4948","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gardner J.M. et al, Science, 1992, \"The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1509264/","biology":"Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation. One of the components of the mammalian pigmentary system. May serve as a key control point at which ethnic skin colour variation is determined. Major determinant of brown and/or blue eye colour. Seems to regulate the post-translational processing of tyrosinase, which catalyses the limiting reaction in melanin synthesis. Location: Melanosome membrane (UniProt). Locus 15q12-q13.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.63 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.59 with melanoma (MONDO_0005105)","Basal cell carcinoma: Open Targets association 0.54 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"other","prevalence":[]},{"id":"ogg1","kind":"target","name":"OGG1","aka":["8-oxoguanine DNA glycosylase","N-glycosylase/DNA lyase","HOGG1","OGH1"],"tldr":"OGG1 (N-glycosylase/DNA lyase) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.89, literature 0.98, genetic association 0.01, somatic mutation 0.55, animal model 0.74).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8125","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8125"},{"label":"UniProt O15527","url":"https://www.uniprot.org/uniprotkb/O15527/entry"},{"label":"NCBI Gene 4968","url":"https://www.ncbi.nlm.nih.gov/gene/4968"},{"label":"Ensembl ENSG00000114026","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114026"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"OGG1","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8125","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8125","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15527","url":"https://www.uniprot.org/uniprotkb/O15527/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000114026","url":"https://platform.opentargets.org/target/ENSG00000114026/associations","note":"association with cancer (MONDO_0004992) 0.66;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8125","ensembl":"ENSG00000114026","uniprot":"O15527","entrez":"4968","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aburatani et al, Cancer Res, 1997, \"Cloning and characterization of mammalian 8-hydroxyguanine-specific DNA glycosylase/apurinic, apyrimidinic lyase, a functional mutM homologue\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9187114/","biology":"DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion. Location: Nucleus, nucleoplasm; Nucleus speckle; Nucleus matrix; Nucleus (UniProt). Locus 3p25.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"olig2","kind":"target","name":"OLIG2","aka":["oligodendrocyte transcription factor 2","Oligodendrocyte transcription factor 2","RACK17","OLIGO2","bHLHe19","PRKCBP2","BHLHB1"],"tldr":"OLIG2 (Oligodendrocyte transcription factor 2) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain. Works in coordination with ZNF488 to promote oligodendrocyte differentiation. Orchestrates progenitor cell fates during cortical gliogenesis and gliomagenesis.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.95, animal model 0.38, genetic association 0.00, somatic mutation 0.94).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9398","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9398"},{"label":"UniProt Q13516","url":"https://www.uniprot.org/uniprotkb/Q13516/entry"},{"label":"NCBI Gene 10215","url":"https://www.ncbi.nlm.nih.gov/gene/10215"},{"label":"Ensembl ENSG00000205927","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000205927"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"OLIG2","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9398","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9398","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13516","url":"https://www.uniprot.org/uniprotkb/Q13516/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000205927","url":"https://platform.opentargets.org/target/ENSG00000205927/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: colorectal cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9398","ensembl":"ENSG00000205927","uniprot":"Q13516","entrez":"10215","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kuroda et al, 1996, \"Protein kinase C-binding protein\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q13516/entry","biology":"Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain. Works in coordination with ZNF488 to promote oligodendrocyte differentiation. Orchestrates progenitor cell fates during cortical gliogenesis and gliomagenesis. In cooperation with OLIG2, activates oligodendrocyte precursor cells (OPCs) formation while repressing the generation of olfactory bulb interneuron intermediate progenitors (OBIN) generation through transcriptional regulation of GSX2. Mechanistically, binds and silences multiple conserved enhancer elements of GSX2. Cooperates with OLIG1 to establish the pMN domain of the embryonic neural tube. Location: Nucleus; Cytoplasm (UniProt). Locus 21q22.11 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"orc1","kind":"target","name":"ORC1","aka":["origin recognition complex subunit 1","Origin recognition complex subunit 1","HSORC1","PARC1","ORC1L"],"tldr":"ORC1 (Origin recognition complex subunit 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Triple-negative breast cancer.","summary":"Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cisplatin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8487","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8487"},{"label":"UniProt Q13415","url":"https://www.uniprot.org/uniprotkb/Q13415/entry"},{"label":"NCBI Gene 4998","url":"https://www.ncbi.nlm.nih.gov/gene/4998"},{"label":"Ensembl ENSG00000085840","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085840"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["tnbc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ORC1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8487","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8487","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13415","url":"https://www.uniprot.org/uniprotkb/Q13415/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ORC1","url":"https://civicdb.org/features/4046","note":"1 evidence items, 0 assertions, 1 variants; diseases: Triple-negative Breast Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists ORC1 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA ORC1: RNA tissue enhanced (bone marrow 27 nTPM, lymphoid tissue 11 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ORC1 tissue","url":"https://www.proteinatlas.org/ENSG00000085840-ORC1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000085840 associations","url":"https://platform.opentargets.org/target/ENSG00000085840/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8487","ensembl":"ENSG00000085840","uniprot":"Q13415","entrez":"4998","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gavin K.A. et al, Science, 1995, \"Conserved initiator proteins in eukaryotes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7502077/","biology":"Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Location: Nucleus (UniProt). Locus 1p32.3 (HGNC).","whereFound":["Triple-negative breast cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"osbpl10","kind":"target","name":"OSBPL10","aka":["oxysterol binding protein like 10","Oxysterol-binding protein-related protein 10"],"tldr":"OSBPL10 (Oxysterol-binding protein-related protein 10) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. Its ability to bind phosphatidylserine, suggests that it specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P. Plays a role in negative regulation of lipid biosynthesis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16395","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16395"},{"label":"UniProt Q9BXB5","url":"https://www.uniprot.org/uniprotkb/Q9BXB5/entry"},{"label":"NCBI Gene 114884","url":"https://www.ncbi.nlm.nih.gov/gene/114884"},{"label":"Ensembl ENSG00000144645","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144645"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"OSBPL10","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16395","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16395","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BXB5","url":"https://www.uniprot.org/uniprotkb/Q9BXB5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene OSBPL10","url":"https://civicdb.org/features/17340","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA OSBPL10: RNA low tissue specificity; blood lineage lineage enriched (B-cells 12 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas OSBPL10 tissue","url":"https://www.proteinatlas.org/ENSG00000144645-OSBPL10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000144645 associations","url":"https://platform.opentargets.org/target/ENSG00000144645/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16395","ensembl":"ENSG00000144645","uniprot":"Q9BXB5","entrez":"114884","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jaworski C.J. et al, Genomics, 2001, \"A family of 12 human genes containing oxysterol-binding domains\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11735225/","biology":"Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. Its ability to bind phosphatidylserine, suggests that it specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P. Plays a role in negative regulation of lipid biosynthesis. Interacts with OSBPL9 to function as lipid transfer proteins. Together they form a heterodimer that localises at the ER-trans-Golgi membrane contact sites, and exchanges phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine, PS) for phosphatidylinositol-4-phosphate (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate), PI(4)P) between the two organelles, a step that is critical for sphingomyelin synthesis in the Golgi complex. Negatively regulates APOB secretion from hepatocytes. Location: Cytoplasm, cytoskeleton; Late endosome membrane; Golgi apparatus, trans-Golgi network membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane (UniProt). Locus 3p23 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"otx1","kind":"target","name":"OTX1","aka":["orthodenticle homeobox 1","Homeobox protein OTX1"],"tldr":"OTX1 (Homeobox protein OTX1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.93, animal model 0.57, genetic association 0.73).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8521","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8521"},{"label":"UniProt P32242","url":"https://www.uniprot.org/uniprotkb/P32242/entry"},{"label":"NCBI Gene 5013","url":"https://www.ncbi.nlm.nih.gov/gene/5013"},{"label":"Ensembl ENSG00000115507","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115507"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"OTX1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8521","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8521","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P32242","url":"https://www.uniprot.org/uniprotkb/P32242/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000115507","url":"https://platform.opentargets.org/target/ENSG00000115507/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: prostate cancer 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8521","ensembl":"ENSG00000115507","uniprot":"P32242","entrez":"5013","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Simeone et al, EMBO J, 1993, \"A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8101484/","biology":"Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'. Location: Nucleus (UniProt). Locus 2p15 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.56 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"ovol2","kind":"target","name":"OVOL2","aka":["ovo like zinc finger 2","Transcription factor Ovo-like 2","bA504H3.3","HOVO2","ZNF339","CHED1"],"tldr":"OVOL2 (Transcription factor Ovo-like 2) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Zinc-finger transcription repressor factor. Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer. Positively regulates neuronal differentiation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cisplatin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15804","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15804"},{"label":"UniProt Q9BRP0","url":"https://www.uniprot.org/uniprotkb/Q9BRP0/entry"},{"label":"NCBI Gene 58495","url":"https://www.ncbi.nlm.nih.gov/gene/58495"},{"label":"Ensembl ENSG00000125850","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125850"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Glandular Pattern Ovarian Yolk Sac Tumour."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"OVOL2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:15804","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15804","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BRP0","url":"https://www.uniprot.org/uniprotkb/Q9BRP0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene OVOL2","url":"https://civicdb.org/features/14079","note":"1 evidence items, 0 assertions, 1 variants; diseases: Glandular Pattern Ovarian Yolk Sac Tumour (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA OVOL2: RNA tissue enhanced (salivary gland 7 nTPM, stomach 1 7 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas OVOL2 tissue","url":"https://www.proteinatlas.org/ENSG00000125850-OVOL2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000125850 associations","url":"https://platform.opentargets.org/target/ENSG00000125850/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:15804","ensembl":"ENSG00000125850","uniprot":"Q9BRP0","entrez":"58495","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: 1999.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9BRP0/entry","biology":"Zinc-finger transcription repressor factor. Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer. Positively regulates neuronal differentiation. Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1. Important for the correct development of primordial germ cells in embryos. Plays dual functions in thermogenesis and adipogenesis to maintain energy balance. Location: Nucleus (UniProt). Locus 20p11.23 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"tnfrsf4","kind":"target","name":"OX40 (TNFRSF4)","aka":["OX40","CD134","ACT35","TNF receptor superfamily member 4"],"tldr":"OX40 is an accelerator that appears on T cells once they are switched on; pressing it makes them multiply and survive longer. Agonist antibodies against it are in trials, including a phase 3 in head and neck cancer.","summary":"TNFRSF4 (chromosome 1p36.33) encodes OX40, the receptor for OX40 ligand (TNFSF4) and a costimulatory molecule implicated in long-term T-cell immunity (UniProt P43489). OX40 ligation augments CD4 and CD8 T-cell clonal expansion, effector differentiation and survival, and in some cases abrogates the suppressive activity of regulatory T cells (Croft 2009, Immunol Rev). INBRX-106, a hexavalent OX40 agonist antibody, is in a phase 2/3 study with pembrolizumab in first-line PD-L1-high head and neck squamous cell carcinoma (NCT06295731).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:11918","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11918"},{"label":"UniProt P43489","url":"https://www.uniprot.org/uniprotkb/P43489/entry"},{"label":"NCBI Gene 7293","url":"https://www.ncbi.nlm.nih.gov/gene/7293"},{"label":"Croft 2009, Immunol Rev (Europe PMC)","url":"https://europepmc.org/article/MED/19538134"}],"tags":["checkpoint-map"],"related":["cd137","tnfrsf18","pembrolizumab"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["inbrx-106"],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"TNFRSF4","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:11918","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11918","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P43489","url":"https://www.uniprot.org/uniprotkb/P43489/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:11918","ensembl":"ENSG00000186827","uniprot":"P43489","entrez":"7293","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Latza et al, Eur. J. Immunol, 1994, \"The human OX40 homolog: cDNA structure, expression and chromosomal assignment of the ACT35 antigen\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7510240/","biology":"A TNF-receptor-superfamily costimulator induced on activated T cells; agonists need receptor clustering, which is why hexavalent formats are tried.","whereFound":["Activated T cells (Croft 2009)","Head and neck squamous cell carcinoma trial of INBRX-106 (NCT06295731)"],"targetClass":"surface-antigen","prevalence":[]},{"id":"p2ry8","kind":"target","name":"P2RY8","aka":["P2Y receptor family member 8","S-geranylgeranyl-glutathione receptor P2RY8","P2Y8"],"tldr":"P2RY8 (S-geranylgeranyl-glutathione receptor P2RY8) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Lung cancer, Diffuse large B-cell lymphoma and 1 more.","summary":"G protein-coupled receptor for S-geranylgeranyl-glutathione (GGG), an endogenous metabolite present in lymphoid tissues. Couples the binding of GGG to the activation of GNA13 and downstream repression of AKT activation in lymphocytes defining their positioning and growth within lymphoid organs. In lymphoid follicles, confines B cells and follicular helper T cells in germinal centres (GCs) in response to GGG local gradients established by GGT5 (via GGG catabolism) and ABCC1 (via extracellular transport) with lower concentrations of GGG found in the follicular dendritic cell network region around which germinal centres are formed.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.22, somatic mutation 0.96). IntOGen calls it a driver in 8 cohorts (5 activating, 3 loss-of-function), covering Burkitt Lymphoma, Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15524","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15524"},{"label":"UniProt Q86VZ1","url":"https://www.uniprot.org/uniprotkb/Q86VZ1/entry"},{"label":"NCBI Gene 286530","url":"https://www.ncbi.nlm.nih.gov/gene/286530"},{"label":"Ensembl ENSG00000182162","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182162"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","lung-cancer","dlbcl","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"P2RY8","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:15524","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15524","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86VZ1","url":"https://www.uniprot.org/uniprotkb/Q86VZ1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene P2RY8","url":"https://civicdb.org/features/21634","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000182162","url":"https://platform.opentargets.org/target/ENSG00000182162/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.65, non-Hodgkin lymphoma 0.69, non-Hodgkin lymphoma 0.53, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen P2RY8","url":"https://www.intogen.org/search?gene=P2RY8","note":"driver in 8 cohorts (Act 5, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA P2RY8: RNA group enriched (bone marrow 29 nTPM, lymphoid tissue 37 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q86VZ1","url":"https://www.uniprot.org/uniprotkb/Q86VZ1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene P2RY8","url":"https://civicdb.org/features/21634","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen P2RY8","url":"https://www.intogen.org/search?gene=P2RY8","note":"driver in 8 cohorts (Act 5, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas P2RY8 tissue","url":"https://www.proteinatlas.org/ENSG00000182162-P2RY8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000182162 associations","url":"https://platform.opentargets.org/target/ENSG00000182162/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:15524","ensembl":"ENSG00000182162","uniprot":"Q86VZ1","entrez":"286530","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"G protein-coupled receptor for S-geranylgeranyl-glutathione (GGG), an endogenous metabolite present in lymphoid tissues. Couples the binding of GGG to the activation of GNA13 and downstream repression of AKT activation in lymphocytes defining their positioning and growth within lymphoid organs. In lymphoid follicles, confines B cells and follicular helper T cells in germinal centres (GCs) in response to GGG local gradients established by GGT5 (via GGG catabolism) and ABCC1 (via extracellular transport) with lower concentrations of GGG found in the follicular dendritic cell network region around which germinal centres are formed. In the bone marrow, also in response to GGG gradients established by GGT5 and ABCC1, it restricts chemotactic transmigration of B cells, T cells and NK cells from blood vessels to the bone marrow parenchyma. Contributes to GNA13-dependent pathway that suppresses GC B cell growth. Location: Cell membrane (UniProt). Locus Xp22.33 and Yp11.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.69 with non-Hodgkin lymphoma (MONDO_0018908); Open Targets association 0.53 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Diffuse large B-cell lymphoma: Open Targets association 0.65 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Burkitt lymphoma: CIViC evidence names this disease; IntOGen driver in 2 cohorts (BL)"],"targetClass":"oncogene","prevalence":[]},{"id":"pabpc1","kind":"target","name":"PABPC1","aka":["poly(A) binding protein cytoplasmic 1","Polyadenylate-binding protein 1","PABP1","PABPL1","PAB1","PABPC2"],"tldr":"PABPC1 (Polyadenylate-binding protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Multiple myeloma, Bladder & urothelial cancer and 5 more.","summary":"Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability. Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.69). IntOGen calls it a driver in 8 cohorts (8 activating, 0 loss-of-function), covering Basal Cell Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Hepatocellular Carcinoma, Lung Squamous Cell Carcinoma, Plasma Cell Myeloma, Upper Tract Urothelial Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8554","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8554"},{"label":"UniProt P11940","url":"https://www.uniprot.org/uniprotkb/P11940/entry"},{"label":"NCBI Gene 26986","url":"https://www.ncbi.nlm.nih.gov/gene/26986"},{"label":"Ensembl ENSG00000070756","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000070756"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","multiple-myeloma","urothelial","thyroid","dlbcl","basal-cell-carcinoma","nsclc","papillary-thyroid-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 8 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PABPC1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8554","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8554","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11940","url":"https://www.uniprot.org/uniprotkb/P11940/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000070756","url":"https://platform.opentargets.org/target/ENSG00000070756/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"},{"label":"IntOGen PABPC1","url":"https://www.intogen.org/search?gene=PABPC1","note":"driver in 8 cohorts (Act 8, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8554","ensembl":"ENSG00000070756","uniprot":"P11940","entrez":"26986","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Grange et al, Nucleic Acids Res, 1987, \"Human mRNA polyadenylate binding protein: evolutionary conservation of a nucleic acid binding motif\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2885805/","biology":"Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability. Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Binds to N6-methyladenosine (m6A)-containing mRNAs and contributes to MYC stability by binding to m6A-containing MYC mRNAs. Involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Location: Cytoplasm; Cytoplasm, Stress granule; Nucleus; Cell projection, lamellipodium (UniProt). Locus 8q22.3 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Diffuse large B-cell lymphoma: IntOGen driver in 2 cohorts (DLBCLNOS)","Basal cell carcinoma: IntOGen driver in 1 cohort (BCC)"],"targetClass":"oncogene","prevalence":[]},{"id":"palb2","kind":"target","name":"PALB2","aka":["partner and localizer of BRCA2","Partner and localizer of BRCA2","FLJ21816","FANCN"],"tldr":"PALB2 (Partner and localizer of BRCA2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer, Colorectal cancer and 5 more.","summary":"Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilises the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51.\n\nCIViC holds 12 clinical evidence items and 0 assertions across 7 variants, naming Olaparib, Rucaparib, Talazoparib and Mitomycin. Open Targets scores its association with cancer at 0.91 (direct and indirect evidence; datatypes genetic literature 0.92, affected pathway 0.89, literature 0.99, genetic association 0.96, somatic mutation 0.90). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Ovarian Epithelial Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26144","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26144"},{"label":"UniProt Q86YC2","url":"https://www.uniprot.org/uniprotkb/Q86YC2/entry"},{"label":"NCBI Gene 79728","url":"https://www.ncbi.nlm.nih.gov/gene/79728"},{"label":"Ensembl ENSG00000083093","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083093"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","ovarian","colorectal","biliary-tract-cancer","gastric","prostate","lung-cancer","pancreatic","tnbc","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-couch-tnbc-germline-17-genes-jco-2015","paper-staaf-tnbc-whole-genome-scan-b-nat-med-2019","paper-zheng-nigerian-inherited-breast-cancer-jco-2018","paper-shindo-germline-sporadic-pancreatic-jco-2017","paper-yurgelun-germline-second-hits-resected-pancreatic-genet-med-2019","paper-lowery-prospective-germline-exocrine-pancreatic-jnci-2018","paper-reiss-rucaparib-maintenance-brca-palb2-pancreatic-jco-2021","paper-waddell-whole-genomes-pancreatic-nature-2015","paper-pritchard-inherited-dna-repair-metastatic-prostate-nejm-2016"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 12 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Triple-negative breast cancer: a high-risk TNBC gene (odds ratio above 5; Shimelis 2018) carried by 1.2% of unselected patients (Couch 2015) and 1.0% of Nigerian breast cancer patients (Zheng 2018); biallelic PALB2 loss gives a BRCA2-null mutational phenotype (Staaf 2019). Olaparib's OlympiA label covers germline BRCA only.","Pancreatic ductal adenocarcinoma: germline variants in about 0.2 to 0.6% (Shindo 2017; cBioPortal 15 of 2,336 tumours). Biallelic PALB2 loss produces the unstable genome and repair-deficiency signature that predicts platinum response (Waddell 2015), and 3 of 6 germline PALB2 carriers responded to maintenance rucaparib (Reiss 2021), although no PARP inhibitor label covers PALB2 in this disease."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PALB2","role":["drug-target","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:26144","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26144","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86YC2","url":"https://www.uniprot.org/uniprotkb/Q86YC2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PALB2","url":"https://civicdb.org/features/15013","note":"12 evidence items, 0 assertions, 7 variants; diseases: Breast Cancer, Prostate Cancer, Pancreatic Cancer, Pancreatic Ductal Adenocarcinoma, Pancreatic Adenocarcinoma and 2 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000083093","url":"https://platform.opentargets.org/target/ENSG00000083093/associations","note":"association with cancer (MONDO_0004992) 0.91; per-cancer scores at or above 0.5: colorectal cancer 0.66, gastric cancer 0.63, prostate cancer 0.63, ovarian cancer 0.77, neuroendocrine neoplasm 0.50, acute myeloid leukaemia 0.53 (GraphQL API, CC0)"},{"label":"IntOGen PALB2","url":"https://www.intogen.org/search?gene=PALB2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Breast cancer (BC) under involvement in disease, and the record is a tumour suppressor; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA PALB2: RNA low tissue specificity; high antibody staining in 39 normal tissues; highest cancer staining lung cancer (12 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Breast cancer (all types), Ovarian cancer, Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Prostate cancer, Lung cancer (all types) and more); Open Targets associates it with 12 specific cancer types at or above 0.5 (breast cancer, breast carcinoma, hereditary breast ovarian cancer syndrome, familial pancreatic carcinoma, hereditary breast carcinoma, susceptibility to breast cancer and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q86YC2","url":"https://www.uniprot.org/uniprotkb/Q86YC2/entry","note":"involvement in disease"},{"label":"Human Protein Atlas PALB2 tissue","url":"https://www.proteinatlas.org/ENSG00000083093-PALB2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000083093 associations","url":"https://platform.opentargets.org/target/ENSG00000083093/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:26144","ensembl":"ENSG00000083093","uniprot":"Q86YC2","entrez":"79728","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Martin et al, Nature, 2004, \"The sequence and analysis of duplication-rich human chromosome 16\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15616553/","biology":"Plays a critical role in homologous recombination repair (HRR) through its ability to recruit BRCA2 and RAD51 to DNA breaks. Strongly stimulates the DNA strand-invasion activity of RAD51, stabilises the nucleoprotein filament against a disruptive BRC3-BRC4 polypeptide and helps RAD51 to overcome the suppressive effect of replication protein A (RPA). Functionally cooperates with RAD51AP1 in promoting of D-loop formation by RAD51. Serves as the molecular scaffold in the formation of the BRCA1-PALB2-BRCA2 complex which is essential for homologous recombination. Via its WD repeats is proposed to scaffold a HR complex containing RAD51C and BRCA2 which is thought to play a role in HR-mediated DNA repair. Essential partner of BRCA2 that promotes the localisation and stability of BRCA2. Location: Nucleus (UniProt). Locus 16p12.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.87 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.77 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Colorectal cancer: Open Targets association 0.66 with colorectal cancer (MONDO_0005575)","Biliary tract cancer: Open Targets association 0.64 with biliary tract cancer (MONDO_0003060)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.63 with gastric cancer (MONDO_0001056)","Prostate cancer: Open Targets association 0.63 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Triple-negative breast cancer: germline or biallelic loss 1-2%","Pancreatic ductal adenocarcinoma: germline or somatic pathogenic variant 0.2-0.6%","Gallbladder cancer: mutation 1.6%","Prostate cancer: palb2, chek2, rad51b/c/d, bard1, brip1, fanca, nbn inactivation 0.2-2% depending on disease state"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"tnbc","pct":"1-2","measure":"Germline or biallelic loss","source":"https://doi.org/10.1200/JCO.2014.57.1414","note":"1.2% of 1,824 unselected patients (Couch 2015); 5 pathogenic germline variants among 237 whole genomes, 2.1%, two of them biallelic (Staaf 2019); 1.0% of 1,136 Nigerian breast cancer patients, eleven cases against no controls (Zheng 2018); cBioPortal: 2 of 176, 1.1%, in breast_msk_2018 and 1 of 123 in brca_tcga_pan_can_atlas_2018."},{"cancerId":"pancreatic","pct":"0.2-0.6","measure":"Germline or somatic pathogenic variant","source":"https://doi.org/10.1200/JCO.2017.72.3502","note":"2 of 854 germline, 0.2% (Shindo 2017); listed among the double-strand repair genes in 21 of 289 resected patients (Yurgelun 2019) and the 122 germline carriers of 615 (Lowery 2018); 15 of 2,336 tumours, 0.6%, in pdac_msk_2024 and 4 of 395 in pancreas_msk_2024 (cBioPortal). Six germline PALB2 carriers among 42 evaluable patients responded to maintenance rucaparib at 50%, 3 of 6 (Reiss 2021). Genomic instability co-segregated with BRCA1, BRCA2 or PALB2 inactivation in 100 whole genomes (Waddell 2015)."},{"cancerId":"gallbladder","pct":"1.6","measure":"Mutation","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Mutation in 4 of 244 samples, 1.6%, in cBioPortal gbc_mskcc_2022."},{"cancerId":"prostate","pct":"0.2-2","measure":"PALB2, CHEK2, RAD51B/C/D, BARD1, BRIP1, FANCA, NBN inactivation","source":"https://www.cbioportal.org/study/summary?id=prostate_msk_2024","note":"cBioPortal mutation in prostate_msk_2024 (2,260 samples): PALB2 19 (0.8%), CHEK2 14 (0.6%), BRIP1 17 (0.8%), BARD1 10 (0.4%), FANCA 15 (0.7%), RAD51B 6, RAD51C 3, RAD51D 2. Deep deletion adds a little: FANCA 42 of 2,260 (1.9%), CHEK2 5, PALB2 4, RAD51B 5. Germline in 692 men with metastatic disease: CHEK2 10 of 534 men with data, 1.9%; RAD51D 3, 0.4%; PALB2 3, 0.4% (Pritchard 2016)."}]},{"id":"pald1","kind":"target","name":"PALD1 (paladin)","aka":["phosphatase domain containing paladin 1","Paladin","KIAA1274","PALD"],"tldr":"PALD1 encodes paladin, a protein built like a tyrosine phosphatase that in blood-vessel cells removes a phosphate from a membrane lipid and so tunes VEGF receptor signalling. It is not an established cancer gene: one study ties it to colon cancer spread, and Open Targets records an association with non-Hodgkin lymphoma.","summary":"PALD1 (paladin, earlier KIAA1274) encodes a protein with a tyrosine phosphatase-like domain. UniProt lists no function text for the human protein (Q9ULE6) and HGNC names it 'phosphatase domain containing paladin 1', so what is known comes from animal work. Paladin was first picked out in screens for genes specific to blood vessels. In mice it sits in endosomes and the Golgi, binds vascular endothelial growth factor receptor 2 (VEGFR2) and removes a phosphate from the membrane lipid PI(4,5)P2; without it VEGFR2 is internalised more, ERK1/2 is over-activated and retinal vessels over-sprout (EMBO Reports 2021). Female mice lacking Pald1 develop emphysema-like lungs with endothelial cell death (Scientific Reports 2017). In the chick neural crest it behaves as an 'antiphosphatase': it shapes when Snail2 and Sox10 switch on and how the cells migrate, and mutating its predicted catalytic cysteines does not abolish that function (Developmental Biology 2012).\n\nIn cancer the evidence is thin. A 2022 study found paladin overexpressed in colon cancer, bound to the phosphatase SSH1, and needed for actin remodelling, cell migration and liver metastasis in mouse models (Oncogenesis 2022). Open Targets scores its association with non-Hodgkin lymphoma at 0.55. No drug targets it, no trial selects on it and it is not on any driver-gene list. The 2021 mouse work suggests that inhibiting paladin could be a way to tune VEGFR2 signalling when full blockade of the receptor is unwanted, an idea not yet tested in people.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:23530","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23530"},{"label":"UniProt Q9ULE6","url":"https://www.uniprot.org/uniprotkb/Q9ULE6/entry"},{"label":"NCBI Gene 27143","url":"https://www.ncbi.nlm.nih.gov/gene/27143"},{"label":"Ensembl ENSG00000107719","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107719"},{"label":"Europe PMC: paladin and VEGFR2 (EMBO Reports 2021)","url":"https://europepmc.org/article/MED/33369848"},{"label":"Europe PMC: paladin in colon cancer metastasis (Oncogenesis 2022)","url":"https://europepmc.org/article/MED/35882839"}],"tags":["cancer-genes-wave","reader-edit"],"related":["open-targets","vegf"],"cancers":["non-hodgkin-lymphoma","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Rewritten on 24 September 2026 after issue 64 proposed a GeneCards summary. The proposal's expression profile and its 'inferred' disorder links (Alzheimer disease 7, Hutchinson-Gilford progeria) are GeneCards aggregations with no primary source and were not used; the function, localisation and cancer statements above come from the papers in sources.","Prevalence not recorded: none of the sources gives a positivity rate."],"symbol":"PALD1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23530","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23530","note":"approved symbol, name, aliases and locus"},{"label":"UniProt Q9ULE6","url":"https://www.uniprot.org/uniprotkb/Q9ULE6/entry","note":"protein name and location; no function text"},{"label":"Open Targets ENSG00000107719","url":"https://platform.opentargets.org/target/ENSG00000107719/associations","note":"non-Hodgkin lymphoma association 0.55 (CC0)"},{"label":"Nitzsche et al., EMBO Reports 2021","url":"https://doi.org/10.15252/embr.202050218","note":"paladin is a PI(4,5)P2 phosphatase regulating endosomal VEGFR2 signalling and angiogenesis (mouse)"},{"label":"Oncogenesis 2022","url":"https://doi.org/10.1038/s41389-022-00416-4","note":"paladin overexpressed in colon cancer and required for actin polymerisation and liver metastasis (cell lines and mouse models)"},{"label":"Developmental Biology 2012","url":"https://doi.org/10.1016/j.ydbio.2012.08.007","note":"paladin as an antiphosphatase regulating neural crest formation and migration (chick)"},{"label":"Scientific Reports 2017","url":"https://doi.org/10.1038/s41598-017-14894-9","note":"female Pald1 knockout mice show endothelial apoptosis and emphysema"}],"specificitySources":[],"hgnc":"HGNC:23530","ensembl":"ENSG00000107719","uniprot":"Q9ULE6","entrez":"27143","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10574462/","biology":"Tyrosine phosphatase-like domain; acts as a PI(4,5)P2 lipid phosphatase on endosomal and Golgi membranes in endothelial cells (mouse) and as an antiphosphatase in the chick neural crest. Location: cytoplasm, cytosol (UniProt). Locus 10q22.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Colon cancer: overexpressed, and required for cell migration and liver metastasis in mouse models (Oncogenesis 2022)"],"targetClass":"other","prevalence":[]},{"id":"pappa2","kind":"target","name":"PAPPA2","aka":["pappalysin 2","Pappalysin-2","PAPPE","PAPP-A2","PLAC3"],"tldr":"PAPPA2 (Pappalysin-2) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"Metalloproteinase which specifically cleaves insulin-like growth factor binding protein (IGFBP)-5 at the '163-Ser-|-Lys-164' bond. Shows limited proteolysis toward IGFBP-3.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Pembrolizumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14615","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14615"},{"label":"UniProt Q9BXP8","url":"https://www.uniprot.org/uniprotkb/Q9BXP8/entry"},{"label":"NCBI Gene 60676","url":"https://www.ncbi.nlm.nih.gov/gene/60676"},{"label":"Ensembl ENSG00000116183","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116183"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAPPA2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14615","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14615","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BXP8","url":"https://www.uniprot.org/uniprotkb/Q9BXP8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PAPPA2","url":"https://civicdb.org/features/14195","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PAPPA2: RNA tissue enriched (placenta 53 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PAPPA2 tissue","url":"https://www.proteinatlas.org/ENSG00000116183-PAPPA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116183 associations","url":"https://platform.opentargets.org/target/ENSG00000116183/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14615","ensembl":"ENSG00000116183","uniprot":"Q9BXP8","entrez":"60676","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Farr et al, Biochim. Biophys. Acta, 2000, \"Pregnancy-associated plasma protein-E (PAPP-E)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11018262/","biology":"Metalloproteinase which specifically cleaves insulin-like growth factor binding protein (IGFBP)-5 at the '163-Ser-|-Lys-164' bond. Shows limited proteolysis toward IGFBP-3. Location: Secreted (UniProt). Locus 1q25.2 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"papss1","kind":"target","name":"PAPSS1","aka":["3'-phosphoadenosine 5'-phosphosulfate synthase 1","Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1","ATPSK1","PAPSS"],"tldr":"PAPSS1 (Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.81, affected pathway 0.89, genetic association 0.39).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8603","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8603"},{"label":"UniProt O43252","url":"https://www.uniprot.org/uniprotkb/O43252/entry"},{"label":"NCBI Gene 9061","url":"https://www.ncbi.nlm.nih.gov/gene/9061"},{"label":"Ensembl ENSG00000138801","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138801"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAPSS1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8603","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8603","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43252","url":"https://www.uniprot.org/uniprotkb/O43252/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138801","url":"https://platform.opentargets.org/target/ENSG00000138801/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8603","ensembl":"ENSG00000138801","uniprot":"O43252","entrez":"9061","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deyrup A.T., 1997, \"Human ATP sulfurylase/APS kinase\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/O43252/entry","biology":"Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. Required for normal biosynthesis of sulfated L-selectin ligands in endothelial cells. Locus 4q25 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"parp","kind":"target","name":"PARP","aka":["PARP1/2","Poly [ADP-ribose] polymerase 2"],"tldr":"PARP is a DNA repair enzyme. Cancers that have already lost one repair system (BRCA) die when this second one is blocked; healthy cells survive.","summary":"PARP inhibitors (olaparib, niraparib, rucaparib, talazoparib) exploit synthetic lethality with BRCA1/2 mutations and homologous recombination deficiency in ovarian, breast, prostate, and pancreatic cancer. Olaparib is approved in adjuvant germline-BRCA breast cancer (OlympiA). PARP1-selective inhibitors (saruparib) and PARP PET tracers are the next step.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/PARP_inhibitor","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/PARP_inhibitor"}],"tags":["synthetic-lethality"],"related":[],"cancers":["ovarian","tnbc","breast-hr-positive","prostate","pancreatic","prostate-mcrpc"],"sections":[],"technologies":[],"targets":[],"drugs":["saruparib","palacaparib"],"companies":[],"institutions":[],"pathways":["ddr"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-abida-triton2-rucaparib-brca-jco-2020","paper-quigley-brca2-reversion-cfdna-parp-resistance-cancer-discov-2017"],"journals":[],"dependsOn":[],"notes":["Prostate cancer: four approved routes with four different eligibility gene lists, from BRCA2 alone through BRCA1 and BRCA2 to 12 and 14 gene panels, and response concentrated in BRCA2 (56% objective response in PROfound against 10% for ATM and 6% for CDK12). Resistance is usually reversion of the qualifying gene, found multiclonally in cell-free DNA (Quigley 2017)."],"symbol":"PARP1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 9 medicines aimed at it (Saruparib, Palacaparib, BRACAnalysis CDx and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA PARP1: RNA low tissue specificity; high antibody staining in 16 normal tissues; highest cancer staining glioma (12 of 12 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Breast cancer (all types), Prostate cancer, Pancreatic ductal adenocarcinoma); Open Targets associates it with 7 specific cancer types at or above 0.5 (ovarian cancer, breast cancer, ovarian carcinoma, fallopian tube cancer, prostate cancer, primary peritoneal carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PARP1 tissue","url":"https://www.proteinatlas.org/ENSG00000143799-PARP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143799 associations","url":"https://platform.opentargets.org/target/ENSG00000143799/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:270","ensembl":"ENSG00000143799","uniprot":"P09874","entrez":"142","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Uchida et al, Biochem. Biophys. Res. Commun, 1987, \"Nucleotide sequence of a full-length cDNA for human fibroblast poly(ADP-ribose) polymerase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3120710/","biology":"Poly(ADP-ribose) polymerase 1 senses single-strand breaks; trapping on DNA is the key cytotoxic mechanism.","whereFound":["BRCA/HRD ovarian, breast, prostate, pancreatic cancers"],"targetClass":"enzyme","prevalence":[{"cancerId":"ovarian","pct":"50","measure":"HRD-positive (BRCA or genomic scar)","source":"https://en.wikipedia.org/wiki/PARP_inhibitor","note":"~20% germline/somatic BRCA"},{"cancerId":"tnbc","pct":"15-20","measure":"Germline BRCA1/2","source":"https://en.wikipedia.org/wiki/PARP_inhibitor","note":"~40-50% HRD by scar"},{"cancerId":"prostate","pct":"20-25","measure":"HRR gene alteration (mCRPC)","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"BRCA2 ~8-10%"},{"cancerId":"pancreatic","pct":"5-8","measure":"Germline BRCA1/2 or PALB2","source":"https://www.cbioportal.org/study/summary?id=paad_tcga_pan_can_atlas_2018"}]},{"id":"parp2","kind":"target","name":"PARP2","aka":["poly(ADP-ribose) polymerase 2","Poly [ADP-ribose] polymerase 2","ARTD2","ADPRTL2"],"tldr":"PARP2 (Poly [ADP-ribose] polymerase 2) is an enzyme. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Ovarian cancer, Breast cancer and Prostate cancer.","summary":"Poly-ADP-ribosyltransferase that mediates poly-ADP-ribosylation of proteins and plays a key role in DNA repair. Mediates glutamate, aspartate or serine ADP-ribosylation of proteins: the ADP-D-ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of target residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units. Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.89, animal model 0.32, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:272","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:272"},{"label":"UniProt Q9UGN5","url":"https://www.uniprot.org/uniprotkb/Q9UGN5/entry"},{"label":"NCBI Gene 10038","url":"https://www.ncbi.nlm.nih.gov/gene/10038"},{"label":"Ensembl ENSG00000129484","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129484"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["ovarian","breast-cancer","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PARP2","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:272","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:272","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UGN5","url":"https://www.uniprot.org/uniprotkb/Q9UGN5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000129484","url":"https://platform.opentargets.org/target/ENSG00000129484/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: prostate cancer 0.55, ovarian cancer 0.60, breast cancer 0.57 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PARP2: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining testis cancer (1 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Breast cancer (all types), Prostate cancer); Open Targets associates it with 6 specific cancer types at or above 0.5 (ovarian cancer, breast cancer, fallopian tube cancer, ovarian carcinoma, primary peritoneal carcinoma, prostate cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PARP2 tissue","url":"https://www.proteinatlas.org/ENSG00000129484-PARP2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000129484 associations","url":"https://platform.opentargets.org/target/ENSG00000129484/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:272","ensembl":"ENSG00000129484","uniprot":"Q9UGN5","entrez":"10038","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ame J.-C. et al, J. Biol. Chem, 1999, \"PARP-2, a novel mammalian DNA damage-dependent poly(ADP-ribose) polymerase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10364231/","biology":"Poly-ADP-ribosyltransferase that mediates poly-ADP-ribosylation of proteins and plays a key role in DNA repair. Mediates glutamate, aspartate or serine ADP-ribosylation of proteins: the ADP-D-ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of target residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units. Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage. Mediates glutamate and aspartate ADP-ribosylation of target proteins in absence of HPF1. Following interaction with HPF1, catalyses serine ADP-ribosylation of target proteins; HPF1 conferring serine specificity by completing the PARP2 active site. PARP2 initiates the repair of double-strand DNA breaks: recognises and binds DNA breaks within chromatin and recruits HPF1, licensing serine ADP-ribosylation of target proteins, such as histones, thereby promoting decompaction of chromatin and the recruitment of repair factors leading to the reparation of DNA strand breaks. Location: Nucleus; Chromosome (UniProt). Locus 14q11.2 (HGNC).","whereFound":["Ovarian cancer: Open Targets association 0.60 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254)","Prostate cancer: Open Targets association 0.55 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"parp3","kind":"target","name":"PARP3","aka":["poly(ADP-ribose) polymerase family member 3","Protein mono-ADP-ribosyltransferase PARP3","ADPRT3","IRT1","hPARP-3","pADPRT-3","ARTD3","ADPRTL3"],"tldr":"PARP3 (Protein mono-ADP-ribosyltransferase PARP3) is an enzyme. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Ovarian cancer and Prostate cancer.","summary":"Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins and plays a key role in the response to DNA damage. Mediates mono-ADP-ribosylation of glutamate, aspartate or lysine residues on target proteins. In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.00, clinical 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:273","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:273"},{"label":"UniProt Q9Y6F1","url":"https://www.uniprot.org/uniprotkb/Q9Y6F1/entry"},{"label":"NCBI Gene 10039","url":"https://www.ncbi.nlm.nih.gov/gene/10039"},{"label":"Ensembl ENSG00000041880","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000041880"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["ovarian","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.98; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PARP3","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:273","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:273","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6F1","url":"https://www.uniprot.org/uniprotkb/Q9Y6F1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000041880","url":"https://platform.opentargets.org/target/ENSG00000041880/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: prostate cancer 0.51, ovarian cancer 0.59 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PARP3: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Prostate cancer); Open Targets associates it with 4 specific cancer types at or above 0.5 (ovarian cancer, ovarian carcinoma, fallopian tube cancer, primary peritoneal carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PARP3 tissue","url":"https://www.proteinatlas.org/ENSG00000041880-PARP3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000041880 associations","url":"https://platform.opentargets.org/target/ENSG00000041880/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:273","ensembl":"ENSG00000041880","uniprot":"Q9Y6F1","entrez":"10039","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Koch-Nolte, 1998.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9Y6F1/entry","biology":"Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins and plays a key role in the response to DNA damage. Mediates mono-ADP-ribosylation of glutamate, aspartate or lysine residues on target proteins. In contrast to PARP1 and PARP2, it is not able to mediate poly-ADP-ribosylation. Involved in DNA repair by mediating mono-ADP-ribosylation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism, such as histone H2B, XRCC5 and XRCC6. ADP-ribosylation follows DNA damage and appears as an obligatory step in a detection/signalling pathway leading to the reparation of DNA strand breaks. Involved in single-strand break repair by catalysing mono-ADP-ribosylation of histone H2B on 'Glu-2' (H2BE2ADPr) of nucleosomes containing nicked DNA. Location: Nucleus; Chromosome; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole (UniProt). Locus 3p21.2 (HGNC).","whereFound":["Ovarian cancer: Open Targets association 0.59 with ovarian cancer (MONDO_0008170)","Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"parp4","kind":"target","name":"PARP4","aka":["poly(ADP-ribose) polymerase family member 4","Protein mono-ADP-ribosyltransferase PARP4","VAULT3","p193","VPARP","VWA5C","ARTD4","ADPRTL1"],"tldr":"PARP4 (Protein mono-ADP-ribosyltransferase PARP4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Multiple myeloma and Non-small-cell lung cancer.","summary":"Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins. Component of the vault particle, which is a massive ribonucleoprotein complex that may play a role in cargo transport and signal transduction.\n\nIntOGen calls it a driver in 3 cohorts (3 activating, 0 loss-of-function), covering Colorectal Adenocarcinoma, Lung Adenocarcinoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:271","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:271"},{"label":"UniProt Q9UKK3","url":"https://www.uniprot.org/uniprotkb/Q9UKK3/entry"},{"label":"NCBI Gene 143","url":"https://www.ncbi.nlm.nih.gov/gene/143"},{"label":"Ensembl ENSG00000102699","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102699"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal","multiple-myeloma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PARP4","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:271","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:271","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UKK3","url":"https://www.uniprot.org/uniprotkb/Q9UKK3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PARP4","url":"https://www.intogen.org/search?gene=PARP4","note":"driver in 3 cohorts (Act 3, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:271","ensembl":"ENSG00000102699","uniprot":"Q9UKK3","entrez":"143","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1996, \"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8724849/","biology":"Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins. Component of the vault particle, which is a massive ribonucleoprotein complex that may play a role in cargo transport and signal transduction. Location: Cytoplasm; Nucleus; Cytoplasm, cytoskeleton, spindle (UniProt). Locus 13q12.12 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"patz1","kind":"target","name":"PATZ1","aka":["POZ/BTB and AT hook containing zinc finger 1","POZ-, AT hook-, and zinc finger-containing protein 1","dJ400N23","ZBTB19","ZNF278"],"tldr":"PATZ1 (POZ-, AT hook-, and zinc finger-containing protein 1) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Skin cancer and Colorectal cancer.","summary":"Transcriptional regulator that plays a role in many biological processes such as embryogenesis, senescence, T-cell development or neurogenesis. Interacts with the TP53 protein to control genes that are important in proliferation and in the DNA-damage response. Mechanistically, the interaction inhibits the DNA binding and transcriptional activity of TP53/p53.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13071","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13071"},{"label":"UniProt Q9HBE1","url":"https://www.uniprot.org/uniprotkb/Q9HBE1/entry"},{"label":"NCBI Gene 23598","url":"https://www.ncbi.nlm.nih.gov/gene/23598"},{"label":"Ensembl ENSG00000100105","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100105"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PATZ1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13071","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13071","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HBE1","url":"https://www.uniprot.org/uniprotkb/Q9HBE1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100105","url":"https://platform.opentargets.org/target/ENSG00000100105/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: colorectal cancer 0.50, skin cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:13071","ensembl":"ENSG00000100105","uniprot":"Q9HBE1","entrez":"23598","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Collins J.E. et al, 1999.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9HBE1/entry","biology":"Transcriptional regulator that plays a role in many biological processes such as embryogenesis, senescence, T-cell development or neurogenesis. Interacts with the TP53 protein to control genes that are important in proliferation and in the DNA-damage response. Mechanistically, the interaction inhibits the DNA binding and transcriptional activity of TP53/p53. Part of the transcriptional network modulating regulatory T-cell development and controls the generation of the regulatory T-cell pool under homeostatic conditions. Location: Nucleus (UniProt). Locus 22q12.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"pax3","kind":"target","name":"PAX3","aka":["paired box 3","Paired box protein Pax-3","HUP2","PAX-3","WS1"],"tldr":"PAX3 (Paired box protein Pax-3) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas and Rhabdomyosarcoma.","summary":"Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10.\n\nOpen Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.40, literature 0.96, genetic association 0.75, somatic mutation 0.98, animal model 0.57).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8617","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8617"},{"label":"UniProt P23760","url":"https://www.uniprot.org/uniprotkb/P23760/entry"},{"label":"NCBI Gene 5077","url":"https://www.ncbi.nlm.nih.gov/gene/5077"},{"label":"Ensembl ENSG00000135903","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135903"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","rhabdomyosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAX3","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8617","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8617","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23760","url":"https://www.uniprot.org/uniprotkb/P23760/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135903","url":"https://platform.opentargets.org/target/ENSG00000135903/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: sarcoma 0.77, rhabdomyosarcoma 0.74 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8617","ensembl":"ENSG00000135903","uniprot":"P23760","entrez":"5077","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Burri et al, EMBO J, 1989, \"Conservation of the paired domain in metazoans and its structure in three isolated human genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2501086/","biology":"Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10. Location: Nucleus (UniProt). Locus 2q36.1 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.77 with sarcoma (MONDO_0005089)","Rhabdomyosarcoma: Open Targets association 0.74 with rhabdomyosarcoma (MONDO_0005212)"],"targetClass":"transcription","prevalence":[]},{"id":"pax5","kind":"target","name":"PAX5","aka":["paired box 5","Paired box protein Pax-5","PAX-5"],"tldr":"PAX5 (Paired box protein Pax-5) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 5 more.","summary":"Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage. Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes. In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signalling and promotes development to the mature B-cell stage.\n\nCIViC holds 5 clinical evidence items and 1 assertion across 2 variants. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.98, animal model 0.27, genetic association 0.45, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8619","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8619"},{"label":"UniProt Q02548","url":"https://www.uniprot.org/uniprotkb/Q02548/entry"},{"label":"NCBI Gene 5079","url":"https://www.ncbi.nlm.nih.gov/gene/5079"},{"label":"Ensembl ENSG00000196092","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196092"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","breast-cancer","skin-cancer","prostate","lung-cancer","all-leukemia","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 5 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: B-lymphoblastic Leukaemia With PAX5 P.P80R."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAX5","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8619","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8619","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02548","url":"https://www.uniprot.org/uniprotkb/Q02548/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PAX5","url":"https://civicdb.org/features/4111","note":"5 evidence items, 1 assertions, 2 variants; diseases: B-lymphoblastic Leukaemia With PAX5 P.P80R, B-lymphoblastic Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000196092","url":"https://platform.opentargets.org/target/ENSG00000196092/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: melanoma 0.56, acute lymphoblastic leukaemia 0.67, non-Hodgkin lymphoma 0.71, skin cancer 0.57, breast cancer 0.61, lung cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen PAX5","url":"https://www.intogen.org/search?gene=PAX5","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PAX5: RNA tissue enriched (lymphoid tissue 37 nTPM); blood lineage lineage enriched (B-cells 39 nTPM); high antibody staining in 1 normal tissue; highest cancer staining lymphoma (8 of 11 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Breast cancer (all types), Skin cancer (all types), Prostate cancer, Lung cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (leukemia, acute lymphoblastic, susceptibility to, 3, acute lymphoblastic leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q02548","url":"https://www.uniprot.org/uniprotkb/Q02548/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PAX5","url":"https://civicdb.org/features/4111","note":"5 evidence items, 1 assertions, 2 variants; diseases: B-lymphoblastic Leukaemia With PAX5 P.P80R, B-lymphoblastic Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"IntOGen PAX5","url":"https://www.intogen.org/search?gene=PAX5","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PAX5 tissue","url":"https://www.proteinatlas.org/ENSG00000196092-PAX5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000196092 associations","url":"https://platform.opentargets.org/target/ENSG00000196092/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8619","ensembl":"ENSG00000196092","uniprot":"Q02548","entrez":"5079","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Adams et al, Genes Dev, 1992, \"Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1516825/","biology":"Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage. Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes. In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signalling and promotes development to the mature B-cell stage. Repression of the cohesin-release factor WAPL causes global changes of the chromosomal architecture in pro-B cells to facilitate the generation of a diverse antibody repertoire. Also participates in the inhibition of lytic EBV reactivation by modulating viral BZLF1 activity. Location: Nucleus (UniProt). Locus 9p13.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.71 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.69 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)"],"targetClass":"transcription","prevalence":[]},{"id":"pax6","kind":"target","name":"PAX6","aka":["paired box 6","Paired box protein Pax-6","D11S812E","AN1","AN2"],"tldr":"PAX6 (Paired box protein Pax-6) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Renal cell carcinoma.","summary":"Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters.\n\nOpen Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes literature 0.98, animal model 0.87, genetic association 0.89, genetic literature 0.89).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8620","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620"},{"label":"UniProt P26367","url":"https://www.uniprot.org/uniprotkb/P26367/entry"},{"label":"NCBI Gene 5080","url":"https://www.ncbi.nlm.nih.gov/gene/5080"},{"label":"Ensembl ENSG00000007372","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000007372"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAX6","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8620","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P26367","url":"https://www.uniprot.org/uniprotkb/P26367/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000007372","url":"https://platform.opentargets.org/target/ENSG00000007372/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: renal cell carcinoma 0.82 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8620","ensembl":"ENSG00000007372","uniprot":"P26367","entrez":"5080","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ton C.C.T. et al, Cell, 1991, \"Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1684738/","biology":"Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains. Acts as a transcriptional repressor of NFATC1-mediated gene expression. Location: Nucleus (UniProt). Locus 11p13 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.82 with renal cell carcinoma (MONDO_0005086)"],"targetClass":"transcription","prevalence":[]},{"id":"pax7","kind":"target","name":"PAX7","aka":["paired box 7","Paired box protein Pax-7","Hup1"],"tldr":"PAX7 (Paired box protein Pax-7) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas and Rhabdomyosarcoma.","summary":"Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.93, genetic association 0.43, somatic mutation 0.97, animal model 0.56).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8621","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8621"},{"label":"UniProt P23759","url":"https://www.uniprot.org/uniprotkb/P23759/entry"},{"label":"NCBI Gene 5081","url":"https://www.ncbi.nlm.nih.gov/gene/5081"},{"label":"Ensembl ENSG00000009709","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000009709"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","rhabdomyosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAX7","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8621","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8621","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23759","url":"https://www.uniprot.org/uniprotkb/P23759/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000009709","url":"https://platform.opentargets.org/target/ENSG00000009709/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: sarcoma 0.71, rhabdomyosarcoma 0.68 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8621","ensembl":"ENSG00000009709","uniprot":"P23759","entrez":"5081","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Burri et al, EMBO J, 1989, \"Conservation of the paired domain in metazoans and its structure in three isolated human genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2501086/","biology":"Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration. Location: Nucleus (UniProt). Locus 1p36.13 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.71 with sarcoma (MONDO_0005089)","Rhabdomyosarcoma: Open Targets association 0.68 with rhabdomyosarcoma (MONDO_0005212)"],"targetClass":"transcription","prevalence":[]},{"id":"pax8","kind":"target","name":"PAX8","aka":["paired box 8","Paired box protein Pax-8","PAX-8"],"tldr":"PAX8 (Paired box protein Pax-8) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Thyroid cancer.","summary":"Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes affected pathway 0.37, literature 0.99, genetic association 0.50, somatic mutation 0.95, animal model 0.53).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8622","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8622"},{"label":"UniProt Q06710","url":"https://www.uniprot.org/uniprotkb/Q06710/entry"},{"label":"NCBI Gene 7849","url":"https://www.ncbi.nlm.nih.gov/gene/7849"},{"label":"Ensembl ENSG00000125618","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125618"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Female Reproductive Organ Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAX8","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8622","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8622","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06710","url":"https://www.uniprot.org/uniprotkb/Q06710/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PAX8","url":"https://civicdb.org/features/75","note":"1 evidence items, 0 assertions, 1 variants; diseases: Female Reproductive Organ Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000125618","url":"https://platform.opentargets.org/target/ENSG00000125618/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: thyroid cancer 0.61 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PAX8: RNA group enriched (kidney 241 nTPM, thyroid gland 537 nTPM); high antibody staining in 4 normal tissues; highest cancer staining thyroid cancer (2 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Thyroid cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PAX8 tissue","url":"https://www.proteinatlas.org/ENSG00000125618-PAX8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000125618 associations","url":"https://platform.opentargets.org/target/ENSG00000125618/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8622","ensembl":"ENSG00000125618","uniprot":"Q06710","entrez":"7849","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Poleev et al, Development, 1992, \"PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1337742/","biology":"Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells. Location: Nucleus (UniProt). Locus 2q14.1 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.61 with thyroid cancer (MONDO_0002108)"],"targetClass":"transcription","prevalence":[]},{"id":"pax9","kind":"target","name":"PAX9","aka":["paired box 9","Paired box protein Pax-9"],"tldr":"PAX9 (Paired box protein Pax-9) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.85, animal model 0.48, genetic association 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8623","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8623"},{"label":"UniProt P55771","url":"https://www.uniprot.org/uniprotkb/P55771/entry"},{"label":"NCBI Gene 5083","url":"https://www.ncbi.nlm.nih.gov/gene/5083"},{"label":"Ensembl ENSG00000198807","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198807"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAX9","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8623","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8623","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55771","url":"https://www.uniprot.org/uniprotkb/P55771/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198807","url":"https://platform.opentargets.org/target/ENSG00000198807/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8623","ensembl":"ENSG00000198807","uniprot":"P55771","entrez":"5083","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stapleton et al, Nat. Genet, 1993, \"Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7981748/","biology":"Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs. Location: Nucleus (UniProt). Locus 14q13.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"pbk","kind":"target","name":"PBK","aka":["PDZ binding kinase","Lymphokine-activated killer T-cell-originated protein kinase","FLJ14385","Nori-3","CT84"],"tldr":"PBK (Lymphokine-activated killer T-cell-originated protein kinase) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer and Non-small-cell lung cancer.","summary":"Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Gefitinib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18282","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18282"},{"label":"UniProt Q96KB5","url":"https://www.uniprot.org/uniprotkb/Q96KB5/entry"},{"label":"NCBI Gene 55872","url":"https://www.ncbi.nlm.nih.gov/gene/55872"},{"label":"Ensembl ENSG00000168078","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168078"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["gastric","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PBK","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18282","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18282","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96KB5","url":"https://www.uniprot.org/uniprotkb/Q96KB5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PBK","url":"https://civicdb.org/features/13276","note":"2 evidence items, 0 assertions, 2 variants; diseases: Lung Non-small Cell Carcinoma, Gastric Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PBK: RNA group enriched (lymphoid tissue 21 nTPM, testis 66 nTPM); high antibody staining in 1 normal tissue. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PBK tissue","url":"https://www.proteinatlas.org/ENSG00000168078-PBK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000168078 associations","url":"https://platform.opentargets.org/target/ENSG00000168078/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18282","ensembl":"ENSG00000168078","uniprot":"Q96KB5","entrez":"55872","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Abe et al, J. Biol. Chem, 2000, \"Cloning and expression of a novel MAPKK-like protein kinase, lymphokine-activated killer T-cell-originated protein kinase, specifically expressed in the testis and activated lymphoid cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10781613/","biology":"Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells. When phosphorylated, forms a complex with TP53, leading to TP53 destabilisation and attenuation of G2/M checkpoint during doxorubicin-induced DNA damage. Locus 8p21.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"pbld","kind":"target","name":"PBLD","aka":["phenazine biosynthesis like protein domain containing","Phenazine biosynthesis-like domain-containing protein","MAWBP","MAWDBP","FLJ14767"],"tldr":"PBLD (Phenazine biosynthesis-like domain-containing protein) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma.","summary":"Functions as a positive regulator of the antiviral immune response by modulating innate immunity and viral replication by enhancing type I interferon (IFN-I) response. PBLD enhances IFN-I signalling via multiple pathways. Promotes IRF3-mediated IFN-I production and apoptosis, thereby inhibiting viral replication.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23301","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23301"},{"label":"UniProt P30039","url":"https://www.uniprot.org/uniprotkb/P30039/entry"},{"label":"NCBI Gene 64081","url":"https://www.ncbi.nlm.nih.gov/gene/64081"},{"label":"Ensembl ENSG00000108187","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108187"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PBLD","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:23301","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23301","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30039","url":"https://www.uniprot.org/uniprotkb/P30039/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PBLD","url":"https://civicdb.org/features/14284","note":"1 evidence items, 0 assertions, 1 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PBLD: RNA group enriched (intestine 161 nTPM, kidney 252 nTPM, liver 313 nTPM); high antibody staining in 4 normal tissues; highest cancer staining renal cancer (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PBLD tissue","url":"https://www.proteinatlas.org/ENSG00000108187-PBLD/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108187 associations","url":"https://platform.opentargets.org/target/ENSG00000108187/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:23301","ensembl":"ENSG00000108187","uniprot":"P30039","entrez":"64081","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hochstrasser D.F. et al, Electrophoresis, 1992, \"Human liver protein map: a reference database established by microsequencing and gel comparison\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1286669/","biology":"Functions as a positive regulator of the antiviral immune response by modulating innate immunity and viral replication by enhancing type I interferon (IFN-I) response. PBLD enhances IFN-I signalling via multiple pathways. Promotes IRF3-mediated IFN-I production and apoptosis, thereby inhibiting viral replication. Up-regulates IFN-I response by activating the NF-kappaB signalling pathway, potentially through inhibition of TRIM21-mediated degradation of phosphorylated IKKbeta, thereby sustaining NF-kappaB activation to counteract viral infection. Additionally, promotes the p53-USP4-MAVS signalling axis by stabilising MAVS through USP4-mediated deubiquitination, thereby enhancing the IFN-I response against RNA virus infection. Acts as a tumour suppressor, regulating development of various cancers. Locus 10q21.3 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"pbrm1","kind":"target","name":"PBRM1","aka":["polybromo 1","BAF180","PB1","SMARCH1"],"tldr":"PBRM1 (polybromo 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Skin cancer, Biliary tract cancer and 5 more.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 2 variants, naming Nivolumab, Everolimus, Pembrolizumab and Sunitinib and others. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.83, literature 0.99, genetic association 0.63, somatic mutation 0.97). IntOGen calls it a driver in 23 cohorts (1 activating, 22 loss-of-function), covering Renal Clear Cell Carcinoma, Cervical Adenocarcinoma, Cholangiocarcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Gallbladder Cancer and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30064","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30064"},{"label":"UniProt Q86U86","url":"https://www.uniprot.org/uniprotkb/Q86U86/entry"},{"label":"NCBI Gene 55193","url":"https://www.ncbi.nlm.nih.gov/gene/55193"},{"label":"Ensembl ENSG00000163939","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163939"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["rcc","skin-cancer","biliary-tract-cancer","esophageal","mesothelioma","cervical","colorectal","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 10 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 22 cohorts; CIViC holds 9 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PBRM1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:30064","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30064","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86U86","url":"https://www.uniprot.org/uniprotkb/Q86U86/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PBRM1","url":"https://civicdb.org/features/62","note":"9 evidence items, 0 assertions, 2 variants; diseases: Renal Cell Carcinoma, Clear Cell Renal Cell Carcinoma, Biliary Tract Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000163939","url":"https://platform.opentargets.org/target/ENSG00000163939/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: renal cell carcinoma 0.74, melanoma 0.64, skin cancer 0.64, biliary tract cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen PBRM1","url":"https://www.intogen.org/search?gene=PBRM1","note":"driver in 23 cohorts (Act 1, LoF 22); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PBRM1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining endometrial cancer (2 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Skin cancer (all types), Biliary tract cancer (all types), Oesophageal cancer, Mesothelioma, Cervical cancer, Colorectal cancer and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (clear cell renal carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q86U86","url":"https://www.uniprot.org/uniprotkb/Q86U86/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PBRM1","url":"https://civicdb.org/features/62","note":"9 evidence items, 0 assertions, 2 variants; diseases: Renal Cell Carcinoma, Clear Cell Renal Cell Carcinoma, Biliary Tract Cancer (GraphQL API, CC0)"},{"label":"IntOGen PBRM1","url":"https://www.intogen.org/search?gene=PBRM1","note":"driver in 23 cohorts (Act 1, LoF 22); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PBRM1 tissue","url":"https://www.proteinatlas.org/ENSG00000163939-PBRM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163939 associations","url":"https://platform.opentargets.org/target/ENSG00000163939/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:30064","ensembl":"ENSG00000163939","uniprot":"Q86U86","entrez":"55193","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xue et al, Proc. Natl. Acad. Sci. U.S.A, 2000, \"The human SWI/SNF-B chromatin-remodeling complex is related to yeast rsc and localizes at kinetochores of mitotic chromosomes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11078522/","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). Acts as a negative regulator of cell proliferation. Location: Nucleus (UniProt). Locus 3p21.1 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.74 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease","Skin cancer: Open Targets association 0.64 with skin cancer (MONDO_0002898)","Biliary tract cancer: Open Targets association 0.64 with biliary tract cancer (MONDO_0003060); CIViC evidence names this disease","Oesophageal cancer: IntOGen driver in 3 cohorts (ESCA)","Mesothelioma: IntOGen driver in 2 cohorts (PLMESO)","Cervical cancer: IntOGen driver in 1 cohort (CEAD)"],"targetClass":"transcription","prevalence":[]},{"id":"pbx1","kind":"target","name":"PBX1","aka":["PBX homeobox 1","Pre-B-cell leukemia transcription factor 1"],"tldr":"PBX1 (Pre-B-cell leukaemia transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Non-Hodgkin lymphoma, Leukaemia, Lung cancer and 3 more.","summary":"Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8. Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein. Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.98, animal model 0.50, genetic association 0.00, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8632","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8632"},{"label":"UniProt P40424","url":"https://www.uniprot.org/uniprotkb/P40424/entry"},{"label":"NCBI Gene 5087","url":"https://www.ncbi.nlm.nih.gov/gene/5087"},{"label":"Ensembl ENSG00000185630","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185630"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","leukaemia","lung-cancer","breast-cancer","all-leukemia","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PBX1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8632","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8632","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P40424","url":"https://www.uniprot.org/uniprotkb/P40424/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000185630","url":"https://platform.opentargets.org/target/ENSG00000185630/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.53, acute lymphoblastic leukaemia 0.56, non-Hodgkin lymphoma 0.59, breast cancer 0.54, lung cancer 0.55, leukaemia 0.59 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8632","ensembl":"ENSG00000185630","uniprot":"P40424","entrez":"5087","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kamps M.P. et al, Cell, 1990, \"A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1967983/","biology":"Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8. Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein. Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4. Acts as a transcriptional activator of PF4 in complex with MEIS1. Also activates transcription of SOX3 in complex with MEIS1 by binding to the 5'-TGATTGAC-3' consensus sequence. In natural killer cells, binds to the NFIL3 promoter and acts as a transcriptional activator of NFIL3, promoting natural killer cell development. Location: Nucleus (UniProt). Locus 1q23.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.59 with leukaemia (MONDO_0005059)","Lung cancer: Open Targets association 0.55 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Acute lymphoblastic leukaemia: Open Targets association 0.56 with acute lymphoblastic leukaemia (MONDO_0004967)","Non-small-cell lung cancer: Open Targets association 0.53 with non-small cell lung carcinoma (MONDO_0005233)"],"targetClass":"transcription","prevalence":[]},{"id":"pcbp1","kind":"target","name":"PCBP1","aka":["poly(rC) binding protein 1","Poly(rC)-binding protein 1","HNRPE1","hnRNP-E1","HNRPX","hnRNP-X"],"tldr":"PCBP1 (Poly(rC)-binding protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Non-Hodgkin lymphoma, Renal cell carcinoma and 2 more.","summary":"Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. Together with PCBP2, required for erythropoiesis, possibly by regulating mRNA splicing.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.21, somatic mutation 0.77). IntOGen calls it a driver in 9 cohorts (5 activating, 4 loss-of-function), covering Burkitt Lymphoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Malignant Lymphoma, Papillary Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8647","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8647"},{"label":"UniProt Q15365","url":"https://www.uniprot.org/uniprotkb/Q15365/entry"},{"label":"NCBI Gene 5093","url":"https://www.ncbi.nlm.nih.gov/gene/5093"},{"label":"Ensembl ENSG00000169564","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169564"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","non-hodgkin-lymphoma","rcc","burkitt-lymphoma","papillary-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PCBP1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8647","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8647","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15365","url":"https://www.uniprot.org/uniprotkb/Q15365/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PCBP1","url":"https://civicdb.org/features/4123","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000169564","url":"https://platform.opentargets.org/target/ENSG00000169564/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: colorectal cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen PCBP1","url":"https://www.intogen.org/search?gene=PCBP1","note":"driver in 9 cohorts (Act 5, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PCBP1: RNA low tissue specificity; high antibody staining in 23 normal tissues; highest cancer staining colorectal cancer (10 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lymphoma, Renal cell carcinoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (colorectal adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q15365","url":"https://www.uniprot.org/uniprotkb/Q15365/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PCBP1","url":"https://civicdb.org/features/4123","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen PCBP1","url":"https://www.intogen.org/search?gene=PCBP1","note":"driver in 9 cohorts (Act 5, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PCBP1 tissue","url":"https://www.proteinatlas.org/ENSG00000169564-PCBP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169564 associations","url":"https://platform.opentargets.org/target/ENSG00000169564/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8647","ensembl":"ENSG00000169564","uniprot":"Q15365","entrez":"5093","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aasheim H.-C. et al, Nucleic Acids Res, 1994, \"Tissue specific expression and cDNA structure of a human transcript encoding a nucleic acid binding [oligo(dC)] protein related to the pre-mRNA binding protein K\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8152927/","biology":"Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. Together with PCBP2, required for erythropoiesis, possibly by regulating mRNA splicing. Location: Nucleus; Cytoplasm (UniProt). Locus 2p13.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.58 with colorectal cancer (MONDO_0005575); IntOGen driver in 5 cohorts (COAD, COADREAD)","Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (MLYM)","Renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)","Burkitt lymphoma: CIViC evidence names this disease; IntOGen driver in 2 cohorts (BL)","Papillary renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)"],"targetClass":"oncogene","prevalence":[]},{"id":"pcm1","kind":"target","name":"PCM1","aka":["pericentriolar material 1","Pericentriolar material 1 protein","PTC4"],"tldr":"PCM1 (Pericentriolar material 1 protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Glioma & glioblastoma.","summary":"Required for centrosome assembly and function. Essential for the correct localisation of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2. Required to anchor microtubules to the centrosome.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.81, genetic association 0.46, somatic mutation 0.74). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Glioblastoma Multiforme.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8727","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8727"},{"label":"UniProt Q15154","url":"https://www.uniprot.org/uniprotkb/Q15154/entry"},{"label":"NCBI Gene 5108","url":"https://www.ncbi.nlm.nih.gov/gene/5108"},{"label":"Ensembl ENSG00000078674","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000078674"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PCM1","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8727","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8727","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15154","url":"https://www.uniprot.org/uniprotkb/Q15154/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000078674","url":"https://platform.opentargets.org/target/ENSG00000078674/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"},{"label":"IntOGen PCM1","url":"https://www.intogen.org/search?gene=PCM1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8727","ensembl":"ENSG00000078674","uniprot":"Q15154","entrez":"5108","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Balczon et al, J. Cell Biol, 1994, \"PCM-1, A 228-kD centrosome autoantigen with a distinct cell cycle distribution\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8120099/","biology":"Required for centrosome assembly and function. Essential for the correct localisation of several centrosomal proteins including CEP250, CETN3, PCNT and NEK2. Required to anchor microtubules to the centrosome. Also involved in cilium biogenesis by recruiting the BBSome, a ciliary protein complex involved in cilium biogenesis, to the centriolar satellites. Recruits the tubulin polyglutamylase complex (TPGC) to centriolar satellites. Location: Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasmic granule; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite (UniProt). Locus 8p22 (HGNC).","whereFound":["Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"pcmtd1","kind":"target","name":"PCMTD1","aka":["protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1","Protein-L-isoaspartate O-methyltransferase domain-containing protein 1","FLJ10883"],"tldr":"PCMTD1 (Protein-L-isoaspartate O-methyltransferase domain-containing protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Substrate recognition component of an ECS (Elongin BC-CUL5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Specifically binds to the methyltransferase cofactor S-adenosylmethionine (AdoMet) via the N-terminal AdoMet binding motif, but does not display methyltransferase activity. May provide an alternate maintenance pathway for modified proteins by acting as a damage-specific E3 ubiquitin ligase adaptor protein.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30483","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30483"},{"label":"UniProt Q96MG8","url":"https://www.uniprot.org/uniprotkb/Q96MG8/entry"},{"label":"NCBI Gene 115294","url":"https://www.ncbi.nlm.nih.gov/gene/115294"},{"label":"Ensembl ENSG00000168300","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168300"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PCMTD1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30483","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30483","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96MG8","url":"https://www.uniprot.org/uniprotkb/Q96MG8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PCMTD1","url":"https://www.intogen.org/search?gene=PCMTD1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30483","ensembl":"ENSG00000168300","uniprot":"Q96MG8","entrez":"115294","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Substrate recognition component of an ECS (Elongin BC-CUL5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Specifically binds to the methyltransferase cofactor S-adenosylmethionine (AdoMet) via the N-terminal AdoMet binding motif, but does not display methyltransferase activity. May provide an alternate maintenance pathway for modified proteins by acting as a damage-specific E3 ubiquitin ligase adaptor protein. Location: Cytoplasm; Membrane (UniProt). Locus 8q11.23 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"pcna","kind":"target","name":"PCNA","aka":["proliferating cell nuclear antigen","DNA sliding clamp PCNA"],"tldr":"PCNA (DNA sliding clamp PCNA) is a gene. The public catalogues list it as a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Neuroblastoma.","summary":"Confers DNA tethering and processivity to DNA polymerases and other proteins. Auxiliary protein of DNA polymerase delta and epsilon, is involved in the control of DNA replication by increasing the polymerases' processivity during elongation of the leading strand. Induces a robust stimulatory effect on the 3'-5' exonuclease and 3'-phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8729","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8729"},{"label":"UniProt P12004","url":"https://www.uniprot.org/uniprotkb/P12004/entry"},{"label":"NCBI Gene 5111","url":"https://www.ncbi.nlm.nih.gov/gene/5111"},{"label":"Ensembl ENSG00000132646","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132646"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PCNA","role":["biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8729","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8729","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12004","url":"https://www.uniprot.org/uniprotkb/P12004/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PCNA","url":"https://civicdb.org/features/4137","note":"1 evidence items, 0 assertions, 1 variants; diseases: Neuroblastoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists PCNA among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PCNA: RNA tissue enhanced (bone marrow 362 nTPM); high antibody staining in 7 normal tissues; highest cancer staining cervical cancer (11 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Childhood cancers (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PCNA tissue","url":"https://www.proteinatlas.org/ENSG00000132646-PCNA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000132646 associations","url":"https://platform.opentargets.org/target/ENSG00000132646/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8729","ensembl":"ENSG00000132646","uniprot":"P12004","entrez":"5111","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Almendral J.M. et al, Proc. Natl. Acad. Sci. U.S.A, 1987, \"Cloning and sequence of the human nuclear protein cyclin: homology with DNA-binding proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2882507/","biology":"Confers DNA tethering and processivity to DNA polymerases and other proteins. Auxiliary protein of DNA polymerase delta and epsilon, is involved in the control of DNA replication by increasing the polymerases' processivity during elongation of the leading strand. Induces a robust stimulatory effect on the 3'-5' exonuclease and 3'-phosphodiesterase, but not apurinic-apyrimidinic (AP) endonuclease, APEX2 activities. Has to be loaded onto DNA in order to be able to stimulate APEX2. Plays a key role in DNA damage response (DDR) by being conveniently positioned at the replication fork to coordinate DNA replication with DNA repair and DNA damage tolerance pathways. Acts as a loading platform to recruit DDR proteins that allow completion of DNA replication after DNA damage and promote postreplication repair: monoubiquitinated PCNA leads to recruitment of translesion (TLS) polymerases, while 'Lys-63'-linked polyubiquitination of PCNA is involved in error-free pathway and employs recombination mechanisms to synthesise across the lesion. Location: Nucleus (UniProt). Locus 20p12.3 (HGNC).","whereFound":["Neuroblastoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"pcnx2","kind":"target","name":"PCNX2","aka":["pecanex 2","Pecanex-like protein 2","KIAA0435","FLJ11383","PCNXL2"],"tldr":"PCNX2 (Pecanex-like protein 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"May play a role in tumorigenesis of colorectal carcinomas with high microsatellite instability (MSI-H).\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.63, animal model 0.52, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8736","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8736"},{"label":"UniProt A6NKB5","url":"https://www.uniprot.org/uniprotkb/A6NKB5/entry"},{"label":"NCBI Gene 80003","url":"https://www.ncbi.nlm.nih.gov/gene/80003"},{"label":"Ensembl ENSG00000135749","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135749"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PCNX2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8736","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8736","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt A6NKB5","url":"https://www.uniprot.org/uniprotkb/A6NKB5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135749","url":"https://platform.opentargets.org/target/ENSG00000135749/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8736","ensembl":"ENSG00000135749","uniprot":"A6NKB5","entrez":"80003","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ishikawa et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9455477/","biology":"May play a role in tumorigenesis of colorectal carcinomas with high microsatellite instability (MSI-H). Location: Membrane (UniProt). Locus 1q42.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"pd1","kind":"target","name":"PD-1","aka":[],"tldr":"PD-1 is a brake on T cells. Blocking it releases the immune system against the tumour and has cured some previously incurable cancers.","summary":"PD-1 blockade (pembrolizumab, nivolumab, cemiplimab, dostarlimab and a growing list of biosimilar-adjacent agents) is standard across melanoma, NSCLC, RCC, urothelial, head and neck, MSI-high tumours, TNBC (with chemotherapy), Hodgkin lymphoma, and more. PD-1×VEGF bispecifics (ivonescimab) and PD-1×CTLA-4 combinations are the next wave.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Programmed_cell_death_protein_1","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Programmed_cell_death_protein_1"}],"tags":["checkpoint"],"related":[],"cancers":["melanoma","nsclc","rcc","urothelial","head-and-neck","tnbc","hodgkin-lymphoma","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["tqb2450","bcd-217","tak-928","sasanlimab","ibi363","t3011","ssgj-705","ssgj-706","rilvegostomig","lorigerlimab","ai-081","gc101-til","azd7789","lb1410"],"companies":["cofactor-genomics","compass-therapeutics","insight-molecular-diagnostics","onc-ai","oncohost","ose-immunotherapeutics","xilio-therapeutics"],"institutions":[],"pathways":["pd1-checkpoint","t-cell-exhaustion"],"terms":[],"trials":["nct06631092","nct07266428","nct06492005","nct06144671","nct06244992","nct06107374","nct06631079","nct05023486","nct05838729","nct07444437","nct07293754"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PDCD1","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Immune or microenvironment target: the record's class is immune checkpoint. HPA PDCD1: RNA tissue enhanced (heart muscle 6 nTPM, lymphoid tissue 15 nTPM); blood lineage lineage enriched (T-cells 12 nTPM); high antibody staining in 1 normal tissue. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Lung cancer (all types), Renal cell carcinoma, Bladder & urothelial cancer, Head and neck squamous cell carcinoma, Breast cancer (all types), Lymphoma and more); approvals of single-target medicines aimed at it also list Oesophageal cancer, Hepatocellular carcinoma, Nasopharyngeal carcinoma, Cervical cancer and more, not counted; Open Targets associates it with 16 specific cancer types at or above 0.5 (non-small cell lung carcinoma, melanoma, renal cell carcinoma, esophageal squamous cell carcinoma, nasopharyngeal carcinoma, head and neck squamous cell carcinoma and more). Tissue-agnostic: Dostarlimab US 2021: \"dMMR recurrent/advanced endometrial cancer; dMMR solid tumours\"; Pembrolizumab US 2017: \"MSI-H/dMMR solid tumours (tumour-agnostic)\"; Pucotenlimab CN 2022: \"Previously treated MSI-high or dMMR advanced solid tumours; unresectable or metastatic melanoma after prior therapy\". (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PDCD1 tissue","url":"https://www.proteinatlas.org/ENSG00000188389-PDCD1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q15116","url":"https://www.uniprot.org/uniprotkb/Q15116/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000188389 associations","url":"https://platform.opentargets.org/target/ENSG00000188389/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8760","ensembl":"ENSG00000188389","uniprot":"Q15116","entrez":"5133","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shinohara et al, Genomics, 1994, \"Structure and chromosomal localization of the human PD-1 gene (PDCD1)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7851902/","biology":"Inhibitory receptor on activated T cells; ligands PD-L1/PD-L2. Tumour PD-L1 expression, TMB, and MSI predict response imperfectly.","whereFound":["Exhausted T cells in the tumour microenvironment"],"targetClass":"checkpoint","prevalence":[{"cancerId":"melanoma","pct":"30-40","measure":"Objective response to PD-1 monotherapy (proxy)","source":"https://en.wikipedia.org/wiki/Programmed_cell_death_protein_1","note":"Not an expression prevalence"},{"cancerId":"nsclc","pct":"20-45","measure":"Response by PD-L1 stratum (proxy)","source":"https://en.wikipedia.org/wiki/Programmed_cell_death_protein_1"}]},{"id":"pdl1","kind":"target","name":"PD-L1","aka":[],"tldr":"PD-L1 is the tumour's side of the PD-1 brake, and also the biomarker that decides who gets immunotherapy.","summary":"PD-L1 (CD274) is the tumour-side ligand of the PD-1 brake, expressed on tumour and immune cells and induced by interferon-gamma, so its presence often marks an immune response already under way. Atezolizumab, durvalumab and avelumab block it directly. PD-L1 immunohistochemistry (22C3 CPS, SP142, 28-8) is the companion diagnostic for many indications, including CPS 10 or above for pembrolizumab in triple-negative breast cancer, with prevalence from 25 to 30 percent of NSCLC at TPS 50 percent or more to 80 to 85 percent of head and neck cancers at CPS 1 or more. Differing assays and cut-offs across drugs remain a practical source of confusion. It is now also an ADC and bispecific target (PD-L1×B7-H3 ADC BH4601, PD-L1×VEGF bispecifics). PD-L1 is both the target of immunotherapy and the test that decides who receives it.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/PD-L1","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/PD-L1"},{"label":"Kuppers et al., PNAS 1994: micromanipulated Hodgkin and Reed-Sternberg cells carry clonal immunoglobulin rearrangements","url":"https://doi.org/10.1073/pnas.91.23.10962"},{"label":"Kuppers, Nat Rev Cancer 2009: the biology of Hodgkin's lymphoma","url":"https://doi.org/10.1038/nrc2542"},{"label":"Steidl et al., N Engl J Med 2010: tumour-associated macrophages and survival in classical Hodgkin lymphoma","url":"https://doi.org/10.1056/NEJMoa0905680"}],"tags":["checkpoint","biomarker"],"related":["pd-l1-tps","pd-l1-tc-score","pd-l1-ic-score","pd-l1-cps"],"cancers":["tnbc","nsclc","urothelial","sclc","gallbladder","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["ventana-pd-l1-sp142","pm8002","hlx43","tqb2450","io102-io103","acasunlimab","sasanlimab","pf-08046054","t3011","ssgj-706","hb0036"],"companies":["compass-therapeutics","insight-molecular-diagnostics","io-biotech","onc-ai","oncohost"],"institutions":[],"pathways":["pd1-checkpoint","hepatocellular-carcinoma-signalling","tumor-microenvironment","antigen-presentation-immunoediting","myeloid-suppression-axis"],"terms":["cps"],"trials":["nct06107374","nct07169552","nct06631079","nct07444437","nct07293754"],"people":[],"bottlenecks":[],"keyPapers":["paper-rugo-pd-l1-assay-comparison-impassion130-jnci-2021","paper-sigurjonsdottir-sp142-22c3-tnbc-bcr-2023","paper-impassion130-n-engl-j-med-2018","paper-keynote-355-nejm-2022","paper-neyaz-pdl1-gallbladder-histopathology-2018","paper-albrecht-pdl1-western-gallbladder-cancers-2021","paper-patil-gallbladder-immune-microenvironment-aimm-2021"],"journals":[],"dependsOn":[],"notes":["Triple-negative breast cancer: positivity depends on the assay and score. SP142 IC 1% or more in 46.4% of 614 IMpassion130 samples and 50.9% of 232 early tumours; 22C3 CPS 10 or more in 27.2% of the same early cohort; SP263 and 22C3 read IC 1% in about 74% of IMpassion130 samples and the atezolizumab benefit sat in the SP142-positive cases (Rugo 2021, Sigurjonsdottir 2023). CD274 amplification 6 to 7% (cBioPortal). The IM subtype carries the highest PD-L1 expression and the mesenchymal subtype the lowest (Bareche 2018, Lehmann 2021).","Gallbladder cancer: tumour-cell PD-L1 at a 1% cut-off ranged from 14.7% (131 Western cases, TPS; Albrecht 2021) to 23.0% (174 Indian cases, SP263; Neyaz 2018); no biliary approval uses a PD-L1 threshold.","Lung cancer: the only protein biomarker that changes first-line treatment, and the least standardised measurement in the disease. Four scoring rules (tumour proportion score, tumour-cell score, immune-cell score, combined positive score) sit on five assays, and the thresholds belong to the trials that drew them: 50% or more by 22C3 for first-line pembrolizumab monotherapy (progression-free survival 10.3 against 6.0 months) and 1% or more for pembrolizumab after platinum, against the SP142 tumour-cell and immune-cell read used by atezolizumab (overall survival 20.2 against 13.1 months in the highest expressers). 22C3, 28-8 and SP263 stain tumour cells comparably, SP142 stains less and 73-10 more, so a percentage cannot be moved between assays; and immune-cell scoring is barely reproducible between pathologists (intraclass correlation 0.18 to 0.19 against 0.86 to 0.93 for tumour cells) (Hirsch 2017, Tsao 2018, Rimm 2017).","Lymphoma, The Hodgkin microenvironment, where the cancer cell is a minority: A classical Hodgkin lymph node is mostly not cancer. The Hodgkin and Reed-Sternberg cells are a small minority of the tissue, surrounded by T cells, eosinophils, plasma cells, macrophages and fibrosis that the tumour recruits and then uses. Their identity was only settled by picking single cells off a histological section with a micromanipulator and amplifying the immunoglobulin genes: each case gave a single clonal heavy-chain rearrangement, proving that the scattered giant cells are one clone of B-lineage origin even though they have lost almost every B-cell marker (Kuppers 1994). Because the malignant cells are so rare, bulk genomic assays on a Hodgkin biopsy mostly measure the infiltrate, which is why the 9p24.1 work needed laser capture and fluorescence in situ hybridisation rather than sequencing. Frequency: An increased number of CD68-positive macrophages, measured by immunohistochemistry in an independent cohort of 166 patients, tracked shorter progression-free survival, a higher chance of relapse after autologous transplant and shorter disease-specific survival, and outperformed the International Prognostic Score in multivariable analysis (Steidl 2010). What it changes about treatment: No test on the infiltrate is used to choose treatment. The practical consequences are methodological: a Hodgkin biopsy needs enough tissue for architecture, a core needle sample is often not enough, and interim PET rather than a molecular marker is what the treatment is adapted to."],"symbol":"CD274","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Immune or microenvironment target: the record's class is immune checkpoint. HPA CD274: RNA tissue enhanced (lung 16 nTPM); blood lineage lineage enriched (granulocytes 7 nTPM); high antibody staining in 2 normal tissues; highest cancer staining cervical cancer (1 of 11 high). Distribution: 9 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Head and neck squamous cell carcinoma, Bladder & urothelial cancer, Biliary tract cancer (all types), Gastric & gastro-oesophageal junction cancer, Oesophageal cancer and more); approvals of single-target medicines aimed at it also list Hepatocellular carcinoma, Sarcomas (soft tissue, bone, GIST), Renal cell carcinoma, Skin cancer (all types) and more, not counted; Open Targets associates it with 8 specific cancer types at or above 0.5 (non-small cell lung carcinoma, Merkel cell skin cancer, small cell lung carcinoma, hepatocellular carcinoma, urothelial carcinoma, head and neck squamous cell carcinoma and more). Tissue-agnostic: Envafolimab China 2021: \"Previously treated MSI-H or dMMR advanced solid tumours\". (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas CD274 tissue","url":"https://www.proteinatlas.org/ENSG00000120217-CD274/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q9NZQ7","url":"https://www.uniprot.org/uniprotkb/Q9NZQ7/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000120217 associations","url":"https://platform.opentargets.org/target/ENSG00000120217/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17635","ensembl":"ENSG00000120217","uniprot":"Q9NZQ7","entrez":"29126","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dong et al, Nat. Med, 1999, \"B7-H1, a third member of the B7 family, co-stimulates T-cell proliferation and interleukin-10 secretion\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10581077/","biology":"Expressed on tumour and immune cells; induced by interferon-gamma.","whereFound":["Tumour cells and immune cells across most cancers","Triple-negative breast cancer: ic 1% or more (sp142) 41-51%","Triple-negative breast cancer: cps 10 or more (22c3) 27-38%","Gallbladder cancer: protein expression (ihc) 15-23%"],"targetClass":"checkpoint","prevalence":[{"cancerId":"tnbc","pct":"35-40","measure":"CPS >=10 (22C3), metastatic","source":"https://en.wikipedia.org/wiki/PD-L1","note":"KEYNOTE-355 screening"},{"cancerId":"nsclc","pct":"25-30","measure":"TPS >=50%","source":"https://en.wikipedia.org/wiki/PD-L1","note":"~60-65% TPS >=1%"},{"cancerId":"urothelial","pct":"25-30","measure":"CPS >=10","source":"https://en.wikipedia.org/wiki/PD-L1"},{"cancerId":"sclc","pct":"15-20","measure":"Any tumour-cell expression","source":"https://en.wikipedia.org/wiki/PD-L1"},{"cancerId":"head-and-neck","pct":"80-85","measure":"CPS >=1","source":"https://en.wikipedia.org/wiki/PD-L1","note":"KEYNOTE-048"},{"cancerId":"tnbc","pct":"41-51","measure":"IC 1% or more (SP142)","source":"https://doi.org/10.1093/jnci/djab108","note":"46.4% of 614 centrally scored IMpassion130 samples (Rugo 2021); 50.9% of 232 population-based early TNBCs (Sigurjonsdottir 2023); the IMpassion130 PD-L1-positive subgroup was defined by this score (Schmid 2018)."},{"cancerId":"tnbc","pct":"27-38","measure":"CPS 10 or more (22C3)","source":"https://doi.org/10.1056/NEJMoa2202809","note":"The CPS-10 subgroup of KEYNOTE-355 carried the overall survival benefit, 23.0 versus 16.1 months (Cortes 2022); 27.2% of 232 early TNBCs, with CPS 1 or more in 53.9% (Sigurjonsdottir 2023); harmonised CPS 10 concordance with SP142 IC 1% was about 75% in IMpassion130 (Rugo 2021). cBioPortal: CD274 amplification in 8 of 119, 6.7%, in brca_tcga_pan_can_atlas_2018 and 20 of 320, 6.2%, in brca_metabric."},{"cancerId":"gallbladder","pct":"15-23","measure":"Protein expression (IHC)","source":"https://doi.org/10.1111/his.13669","note":"Tumour cells positive at 1% or more in 23.0% of 174 Indian cases (SP263; 14.9% at 10% and 7.5% at 50%), with PD-L1 on immune cells in 24.1% (Neyaz 2018); tumour proportion score 1% or more in 14.7% of 131 Western cases, 4.7% above 10% and 3.1% above 25% (Albrecht 2021); 98% of 47 United States adenocarcinomas stained with a different antibody and scoring (Patil 2021)."}]},{"id":"pdcd1lg2","kind":"target","name":"PDCD1LG2","aka":["programmed cell death 1 ligand 2","Programmed cell death 1 ligand 2","PD-L2","Btdc","PDL2","bA574F11.2","CD273","B7-DC","B7DC"],"tldr":"PDCD1LG2 (Programmed cell death 1 ligand 2) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and an antigen, and an approved or late-stage drug is recorded against it. Tied to Head and neck squamous cell carcinoma, Thyroid cancer, Breast cancer and 2 more.","summary":"Plays a critical role in induction and maintenance of immune tolerance to self. Acts as a ligand for the inhibitory receptor PDCD1/PD-1, inhibiting T-cell proliferation by blocking cell cycle progression and cytokine production.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Pembrolizumab. Open Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.00, somatic mutation 0.82). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Melanoma, Well-Differentiated Thyroid Cancer. In OnCo, 3 product records name it (Retifanlimab, Sintilimab and Sasanlimab).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18731","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18731"},{"label":"UniProt Q9BQ51","url":"https://www.uniprot.org/uniprotkb/Q9BQ51/entry"},{"label":"NCBI Gene 80380","url":"https://www.ncbi.nlm.nih.gov/gene/80380"},{"label":"Ensembl ENSG00000197646","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197646"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["head-and-neck","thyroid","breast-cancer","melanoma","papillary-thyroid-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":["retifanlimab","sasanlimab","sintilimab"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants; a membrane or secreted protein (UniProt keywords) that 3 antibody-based OnCo products name. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PDCD1LG2","role":["drug-target","oncogene-driver","biomarker","antigen","immune-checkpoint"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:18731","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18731","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BQ51","url":"https://www.uniprot.org/uniprotkb/Q9BQ51/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PDCD1LG2","url":"https://civicdb.org/features/15403","note":"1 evidence items, 0 assertions, 1 variants; diseases: Head And Neck Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000197646","url":"https://platform.opentargets.org/target/ENSG00000197646/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: breast cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen PDCD1LG2","url":"https://www.intogen.org/search?gene=PDCD1LG2","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal lymphoid tissue cells: HPA blood lineage low lineage specificity at or above 25 nTPM, and 3 antibodies (Retifanlimab, Sasanlimab, Sintilimab) aim at it, so normal cells of the lineage are hit too. HPA PDCD1LG2: RNA tissue enhanced (lymphoid tissue 14 nTPM); high antibody staining in 18 normal tissues; highest cancer staining liver cancer (4 of 12 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma, Thyroid cancer, Breast cancer (all types), Skin cancer (all types)); approvals of single-target medicines aimed at it also list Anal cancer (squamous cell carcinoma), Lung cancer (all types), Hepatocellular carcinoma, Oesophageal cancer and more, not counted; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PDCD1LG2 tissue","url":"https://www.proteinatlas.org/ENSG00000197646-PDCD1LG2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PDCD1LG2 pathology","url":"https://www.proteinatlas.org/ENSG00000197646-PDCD1LG2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197646 associations","url":"https://platform.opentargets.org/target/ENSG00000197646/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18731","ensembl":"ENSG00000197646","uniprot":"Q9BQ51","entrez":"80380","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tseng S.-Y. et al, J. Exp. Med, 2001, \"B7-DC, a new dendritic cell molecule with potent costimulatory properties for T cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11283156/","biology":"Plays a critical role in induction and maintenance of immune tolerance to self. Acts as a ligand for the inhibitory receptor PDCD1/PD-1, inhibiting T-cell proliferation by blocking cell cycle progression and cytokine production. Location: Secreted; Endomembrane system; Cell membrane (UniProt). Locus 9p24.1 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: CIViC evidence names this disease","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Melanoma: IntOGen driver in 1 cohort (MEL)","Papillary thyroid cancer: IntOGen driver in 1 cohort (WDTC)"],"targetClass":"oncogene","prevalence":[]},{"id":"pdcd4","kind":"target","name":"PDCD4","aka":["programmed cell death 4","Programmed cell death protein 4","H731"],"tldr":"PDCD4 (Programmed cell death protein 4) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer.","summary":"Inhibits translation initiation and cap-dependent translation. May excert its function by hindering the interaction between EIF4A1 and EIF4G. Inhibits the helicase activity of EIF4A.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Paclitaxel.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8763","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8763"},{"label":"UniProt Q53EL6","url":"https://www.uniprot.org/uniprotkb/Q53EL6/entry"},{"label":"NCBI Gene 27250","url":"https://www.ncbi.nlm.nih.gov/gene/27250"},{"label":"Ensembl ENSG00000150593","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000150593"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PDCD4","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8763","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8763","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q53EL6","url":"https://www.uniprot.org/uniprotkb/Q53EL6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PDCD4","url":"https://civicdb.org/features/10573","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PDCD4: RNA tissue enhanced (pancreas 477 nTPM); high antibody staining in 32 normal tissues; highest cancer staining ovarian cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PDCD4 tissue","url":"https://www.proteinatlas.org/ENSG00000150593-PDCD4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000150593 associations","url":"https://platform.opentargets.org/target/ENSG00000150593/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8763","ensembl":"ENSG00000150593","uniprot":"Q53EL6","entrez":"27250","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Matsuhashi et al, Res. Commun. Biochem. Cell Mol. Biol, 1997, \"Isolation of a novel gene from a human cell line with Pr-28 MAb which recognizes a nuclear antigen involved in the cell cycle\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q53EL6/entry","biology":"Inhibits translation initiation and cap-dependent translation. May excert its function by hindering the interaction between EIF4A1 and EIF4G. Inhibits the helicase activity of EIF4A. Modulates the activation of JUN kinase. Down-regulates the expression of MAP4K1, thus inhibiting events important in driving invasion, namely, MAPK85 activation and consequent JUN-dependent transcription. May play a role in apoptosis. Location: Nucleus; Cytoplasm (UniProt). Locus 10q25.2 (HGNC).","whereFound":["Lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"pde3a","kind":"target","name":"PDE3A","aka":["phosphodiesterase 3A","cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A","CGI-PDE"],"tldr":"PDE3A (cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms and Essential thrombocythaemia.","summary":"Cyclic nucleotide phosphodiesterase with specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Also has activity toward cUMP. Independently of its catalytic activity it is part of an E2/17beta-estradiol-induced pro-apoptotic signalling pathway.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.53, somatic mutation 0.23, clinical 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8778","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8778"},{"label":"UniProt Q14432","url":"https://www.uniprot.org/uniprotkb/Q14432/entry"},{"label":"NCBI Gene 5139","url":"https://www.ncbi.nlm.nih.gov/gene/5139"},{"label":"Ensembl ENSG00000172572","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172572"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["myeloproliferative-neoplasms","essential-thrombocythaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PDE3A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:8778","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8778","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14432","url":"https://www.uniprot.org/uniprotkb/Q14432/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172572","url":"https://platform.opentargets.org/target/ENSG00000172572/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: myeloproliferative neoplasm 0.59, essential thrombocythemia 0.58 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PDE3A: RNA tissue enhanced (blood vessel 20 nTPM, heart muscle 28 nTPM); high antibody staining in 1 normal tissue; highest cancer staining prostate cancer (10 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (essential thrombocythemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PDE3A tissue","url":"https://www.proteinatlas.org/ENSG00000172572-PDE3A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000172572 associations","url":"https://platform.opentargets.org/target/ENSG00000172572/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8778","ensembl":"ENSG00000172572","uniprot":"Q14432","entrez":"5139","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Meacci et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Molecular cloning and expression of human myocardial cGMP-inhibited cAMP phosphodiesterase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1315035/","biology":"Cyclic nucleotide phosphodiesterase with specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes. Also has activity toward cUMP. Independently of its catalytic activity it is part of an E2/17beta-estradiol-induced pro-apoptotic signalling pathway. E2 stabilises the PDE3A/SLFN12 complex in the cytosol, promoting the dephosphorylation of SLFN12 and activating its pro-apoptotic ribosomal RNA/rRNA ribonuclease activity. This apoptotic pathway might be relevant in tissues with high concentration of E2 and be for instance involved in placenta remodeling. Location: Membrane; Cytoplasm, cytosol (UniProt). Locus 12p12.2 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Essential thrombocythaemia: Open Targets association 0.58 with essential thrombocythemia (MONDO_0005029)"],"targetClass":"enzyme","prevalence":[]},{"id":"pde3b","kind":"target","name":"PDE3B","aka":["phosphodiesterase 3B","cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B","HcGIP1"],"tldr":"PDE3B (cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms and Essential thrombocythaemia.","summary":"Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological process. Regulates angiogenesis by inhibiting the cAMP-dependent guanine nucleotide exchange factor RAPGEF3 and downstream phosphatidylinositol 3-kinase gamma-mediated signalling. Controls cardiac contractility by reducing cAMP concentration in cardiocytes.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.75, animal model 0.36, genetic association 0.16, clinical 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8779","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8779"},{"label":"UniProt Q13370","url":"https://www.uniprot.org/uniprotkb/Q13370/entry"},{"label":"NCBI Gene 5140","url":"https://www.ncbi.nlm.nih.gov/gene/5140"},{"label":"Ensembl ENSG00000152270","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000152270"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["myeloproliferative-neoplasms","essential-thrombocythaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PDE3B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:8779","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8779","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13370","url":"https://www.uniprot.org/uniprotkb/Q13370/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000152270","url":"https://platform.opentargets.org/target/ENSG00000152270/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: myeloproliferative neoplasm 0.58, essential thrombocythemia 0.58 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PDE3B: RNA tissue enhanced (adipose tissue 61 nTPM); blood lineage group enriched (granulocytes 4 nTPM, T-cells 6 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (essential thrombocythemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PDE3B tissue","url":"https://www.proteinatlas.org/ENSG00000152270-PDE3B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000152270 associations","url":"https://platform.opentargets.org/target/ENSG00000152270/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8779","ensembl":"ENSG00000152270","uniprot":"Q13370","entrez":"5140","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miki et al, Genomics, 1996, \"Characterization of the cDNA and gene encoding human PDE3B, the cGIP1 isoform of the human cyclic GMP-inhibited cyclic nucleotide phosphodiesterase family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8884271/","biology":"Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological process. Regulates angiogenesis by inhibiting the cAMP-dependent guanine nucleotide exchange factor RAPGEF3 and downstream phosphatidylinositol 3-kinase gamma-mediated signalling. Controls cardiac contractility by reducing cAMP concentration in cardiocytes. Location: Membrane (UniProt). Locus 11p15.2 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.58 with myeloproliferative neoplasm (MONDO_0020076)","Essential thrombocythaemia: Open Targets association 0.58 with essential thrombocythemia (MONDO_0005029)"],"targetClass":"enzyme","prevalence":[]},{"id":"pdgfb","kind":"target","name":"PDGFB","aka":["platelet derived growth factor subunit B","Platelet-derived growth factor subunit B"],"tldr":"PDGFB (Platelet-derived growth factor subunit B) is a gene. The public catalogues list it as a drug target, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas and Dermatofibrosarcoma protuberans.","summary":"Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Imatinib Mesylate and Sorafenib Tosylate. Open Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.97, genetic association 0.20, somatic mutation 0.97, animal model 0.47).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8800","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8800"},{"label":"UniProt P01127","url":"https://www.uniprot.org/uniprotkb/P01127/entry"},{"label":"NCBI Gene 5155","url":"https://www.ncbi.nlm.nih.gov/gene/5155"},{"label":"Ensembl ENSG00000100311","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100311"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["sarcoma","dermatofibrosarcoma-protuberans"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 3 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PDGFB","role":["drug-target","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8800","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8800","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01127","url":"https://www.uniprot.org/uniprotkb/P01127/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PDGFB","url":"https://civicdb.org/features/4173","note":"3 evidence items, 0 assertions, 1 variants; diseases: Dermatofibrosarcoma Protuberans (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000100311","url":"https://platform.opentargets.org/target/ENSG00000100311/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: sarcoma 0.63 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PDGFB: RNA low tissue specificity; blood lineage lineage enriched (T-cells 10 nTPM); high antibody staining in 14 normal tissues; highest cancer staining prostate cancer (6 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P01127","url":"https://www.uniprot.org/uniprotkb/P01127/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PDGFB","url":"https://civicdb.org/features/4173","note":"3 evidence items, 0 assertions, 1 variants; diseases: Dermatofibrosarcoma Protuberans (GraphQL API, CC0)"},{"label":"Human Protein Atlas PDGFB tissue","url":"https://www.proteinatlas.org/ENSG00000100311-PDGFB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100311 associations","url":"https://platform.opentargets.org/target/ENSG00000100311/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8800","ensembl":"ENSG00000100311","uniprot":"P01127","entrez":"5155","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Waterfield M.D. et al, Nature, 1983, \"Platelet-derived growth factor is structurally related to the putative transforming protein p28sis of simian sarcoma virus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6306471/","biology":"Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Required for normal proliferation and recruitment of pericytes and vascular smooth muscle cells in the central nervous system, skin, lung, heart and placenta. Required for normal blood vessel development, and for normal development of kidney glomeruli. Plays an important role in wound healing. Signalling is modulated by the formation of heterodimers with PDGFA. Location: Secreted (UniProt). Locus 22q13.1 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.63 with sarcoma (MONDO_0005089)","Dermatofibrosarcoma protuberans: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"pdgfra","kind":"target","name":"PDGFRA","aka":[],"tldr":"PDGFRA is a growth-factor receptor mutated in about 10% of GISTs, including the D842V mutation that resists imatinib but responds to avapritinib.","summary":"PDGFRA activating mutations (exons 12, 14, 18) define KIT-wild-type GIST with gastric location and epithelioid morphology; D842V (~60% of PDGFRA-mutant GIST) is imatinib-resistant but responds to avapritinib (~90% response, 2020). FIP1L1-PDGFRA fusions cause hypereosinophilic syndrome/chronic eosinophilic leukaemia that is exquisitely imatinib-sensitive; PDGFRA amplification occurs in glioblastoma (~15%) without a proven therapy. Olaratumab (anti-PDGFRα) failed in sarcoma (ANNOUNCE).","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/PDGFRA","links":[{"label":"Heinrich 2003 (Science)","url":"https://doi.org/10.1126/science.1079666"}],"tags":["gap-fill"],"related":["kit","pdgfra-exon-18-d842v"],"cancers":["gist","glioblastoma","sarcoma"],"sections":[],"technologies":["kinase-inhibitors"],"targets":[],"drugs":["avapritinib","imatinib","ripretinib","sunitinib","chiauranib"],"companies":[],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor","glioma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PDGFRA","role":[],"sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (PDGFRA exon 18 mutation (D842V)) absent from normal cells. HPA PDGFRA: RNA tissue enhanced (ovary 188 nTPM); high antibody staining in 5 normal tissues. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Brain and spinal cord tumours (all types)); approvals of single-target medicines aimed at it also list Myeloid neoplasms, Leukaemia, Skin cancer (all types), not counted; Open Targets associates it with 7 specific cancer types at or above 0.5 (gastrointestinal stromal tumor, acute myeloid leukemia, soft tissue sarcoma, renal cell carcinoma, non-small cell lung carcinoma, colorectal cancer and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"PDGFRA exon 18 mutation (D842V) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=645c887c-8cd4-4623-8da9-ac223d71a8b9","note":"PDGFRA exon 18 mutation including D842V"},{"label":"Human Protein Atlas PDGFRA tissue","url":"https://www.proteinatlas.org/ENSG00000134853-PDGFRA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000134853 associations","url":"https://platform.opentargets.org/target/ENSG00000134853/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8803","ensembl":"ENSG00000134853","uniprot":"P16234","entrez":"5156","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Claesson-Welsh et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"cDNA cloning and expression of the human A-type platelet-derived growth factor (PDGF) receptor establishes structural similarity to the B-type PDGF receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2544881/","biology":"Type III receptor tyrosine kinase (with KIT, CSF1R, FLT3); ligand PDGF-AA/BB dimerises the receptor, activating RAS/MAPK, PI3K and STAT pathways; D842V in the activation loop stabilises the active conformation.","whereFound":["GIST (~10%, gastric, KIT-wild-type)","Chronic eosinophilic leukaemia (FIP1L1-PDGFRA)","Glioblastoma (amplification ~15%)","Dermatofibrosarcoma protuberans (COL1A1-PDGFB, ligand-driven)"],"targetClass":"kinase","prevalence":[{"cancerId":"gist","pct":"10","measure":"PDGFRA mutation","source":"https://doi.org/10.1126/science.1079666"},{"cancerId":"glioblastoma","pct":"15","measure":"amplification"}]},{"id":"pdgfrb","kind":"target","name":"PDGFRB","aka":[],"tldr":"A growth receptor on connective-tissue and blood-vessel cells. Imatinib works in rare cancers driven by PDGFRB fusions, such as dermatofibrosarcoma protuberans and some chronic myeloid neoplasms with eosinophilia.","summary":"Platelet-derived growth factor receptor beta signals in fibroblasts, pericytes and smooth muscle. The COL1A1::PDGFB fusion of dermatofibrosarcoma protuberans drives the receptor through its own ligand, and PDGFRB rearrangements define a group of myeloid and lymphoid neoplasms with eosinophilia; both respond to imatinib, which inhibits PDGFRB alongside KIT, ABL1 and PDGFRA. Sunitinib, pazopanib and other multi-kinase inhibitors also block it, contributing to their anti-angiogenic effect through pericytes. In most solid tumours PDGFRB is a stromal rather than a tumour-cell target.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/PDGFRB","links":[{"label":"UniProt P09619: PDGFRB","url":"https://www.uniprot.org/uniprotkb/P09619/entry"}],"tags":[],"related":[],"cancers":["sarcoma","cmml"],"sections":[],"technologies":[],"targets":[],"drugs":["imatinib","sunitinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PDGFRB","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Imatinib, Sunitinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA PDGFRB: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining glioma (3 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Leukaemia); approvals of single-target medicines aimed at it also list Skin cancer (all types), not counted; Open Targets associates it with 14 specific cancer types at or above 0.5 (myofibromatosis, infantile, 1, infantile myofibromatosis, hepatocellular carcinoma, gastrointestinal stromal tumor, chronic myeloid leukemia, acute myeloid leukemia and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PDGFRB tissue","url":"https://www.proteinatlas.org/ENSG00000113721-PDGFRB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113721 associations","url":"https://platform.opentargets.org/target/ENSG00000113721/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8804","ensembl":"ENSG00000113721","uniprot":"P09619","entrez":"5159","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gronwald R.G.K. et al, Proc. Natl. Acad. Sci. U.S.A, 1988, \"Cloning and expression of a cDNA coding for the human platelet-derived growth factor receptor: evidence for more than one receptor class\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2835772/","biology":"Receptor tyrosine kinase of mesenchymal cells and pericytes; oncogenic through fusions in dermatofibrosarcoma protuberans and myeloid neoplasms with eosinophilia.","whereFound":["Dermatofibrosarcoma protuberans (COL1A1::PDGFB)","Myeloid or lymphoid neoplasms with PDGFRB rearrangement","Tumour stroma and pericytes"],"targetClass":"kinase","prevalence":[{"cancerId":"sarcoma","pct":"more than 90","measure":"COL1A1-PDGFB fusion in dermatofibrosarcoma protuberans, the PDGFRB-driven sarcoma imatinib treats","source":"https://doi.org/10.1038/ng0997-95"}]},{"id":"pdgfrl","kind":"target","name":"PDGFRL","aka":["platelet derived growth factor receptor like","Platelet-derived growth factor receptor-like protein","PRLTS"],"tldr":"PDGFRL (Platelet-derived growth factor receptor-like protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"UniProt has no function text for Q15198; HGNC names it \"platelet derived growth factor receptor like\".\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.30, genetic association 0.47, somatic mutation 0.55, animal model 0.43).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8805","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8805"},{"label":"UniProt Q15198","url":"https://www.uniprot.org/uniprotkb/Q15198/entry"},{"label":"NCBI Gene 5157","url":"https://www.ncbi.nlm.nih.gov/gene/5157"},{"label":"Ensembl ENSG00000104213","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104213"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PDGFRL","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8805","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8805","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15198","url":"https://www.uniprot.org/uniprotkb/Q15198/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104213","url":"https://platform.opentargets.org/target/ENSG00000104213/associations","note":"association with cancer (MONDO_0004992) 0.51; per-cancer scores at or above 0.5: colorectal cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8805","ensembl":"ENSG00000104213","uniprot":"Q15198","entrez":"5157","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fujiwara et al, Oncogene, 1995, \"Isolation of a candidate tumor suppressor gene on chromosome 8p21.3-p22 that is homologous to an extracellular domain of the PDGF receptor beta gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7898930/","biology":"UniProt has no function text for Q15198; HGNC names it \"platelet derived growth factor receptor like\". Location: Secreted (UniProt). Locus 8p22 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"pdlim5","kind":"target","name":"PDLIM5","aka":["PDZ and LIM domain 5","PDZ and LIM domain protein 5","Enh"],"tldr":"PDLIM5 (PDZ and LIM domain protein 5) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Isoforms lacking the LIM domains may negatively modulate the scaffolding activity of isoform 1.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.61, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17468","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17468"},{"label":"UniProt Q96HC4","url":"https://www.uniprot.org/uniprotkb/Q96HC4/entry"},{"label":"NCBI Gene 10611","url":"https://www.ncbi.nlm.nih.gov/gene/10611"},{"label":"Ensembl ENSG00000163110","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163110"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PDLIM5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17468","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17468","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96HC4","url":"https://www.uniprot.org/uniprotkb/Q96HC4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163110","url":"https://platform.opentargets.org/target/ENSG00000163110/associations","note":"association with cancer (MONDO_0004992) 0.50; per-cancer scores at or above 0.5: prostate cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17468","ensembl":"ENSG00000163110","uniprot":"Q96HC4","entrez":"10611","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ueki et al, J. Hum. Genet, 1999, \"Isolation, tissue expression, and chromosomal assignment of a human LIM protein gene, showing homology to rat enigma homologue (ENH)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10429367/","biology":"May play an important role in the heart development by scaffolding PKC to the Z-disk region. May play a role in the regulation of cardiomyocyte expansion. Isoforms lacking the LIM domains may negatively modulate the scaffolding activity of isoform 1. Overexpression promotes the development of heart hypertrophy. Contributes to the regulation of dendritic spine morphogenesis in neurons. May be required to restrain postsynaptic growth of excitatory synapses. Location: Postsynaptic density; Presynapse; Postsynapse; Cytoplasm, cytosol (UniProt). Locus 4q22.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.50 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"pdpk1","kind":"target","name":"PDPK1","aka":["3-phosphoinositide dependent protein kinase 1","3-phosphoinositide-dependent protein kinase 1","PDK1"],"tldr":"PDPK1 (3-phosphoinositide-dependent protein kinase 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), TSSK3, protein kinase PKN (PKN1 and PKN2). Plays a central role in the transduction of signals from insulin by providing the activating phosphorylation to PKB/AKT1, thus propagating the signal to downstream targets controlling cell proliferation and survival, as well as glucose and amino acid uptake and storage.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.81, genetic association 0.00, clinical 0.19).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8816","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8816"},{"label":"UniProt O15530","url":"https://www.uniprot.org/uniprotkb/O15530/entry"},{"label":"NCBI Gene 5170","url":"https://www.ncbi.nlm.nih.gov/gene/5170"},{"label":"Ensembl ENSG00000140992","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140992"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.19. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PDPK1","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8816","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8816","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15530","url":"https://www.uniprot.org/uniprotkb/O15530/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140992","url":"https://platform.opentargets.org/target/ENSG00000140992/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA lists PDPK1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PDPK1: RNA low tissue specificity; high antibody staining in 4 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PDPK1 tissue","url":"https://www.proteinatlas.org/ENSG00000140992-PDPK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000140992 associations","url":"https://platform.opentargets.org/target/ENSG00000140992/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8816","ensembl":"ENSG00000140992","uniprot":"O15530","entrez":"5170","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Alessi D.R. et al, Curr. Biol, 1997, \"Characterization of a 3-phosphoinositide-dependent protein kinase which phosphorylates and activates protein kinase B alpha\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9094314/","biology":"Serine/threonine kinase which acts as a master kinase, phosphorylating and activating a subgroup of the AGC family of protein kinases. Its targets include: protein kinase B (PKB/AKT1, PKB/AKT2, PKB/AKT3), p70 ribosomal protein S6 kinase (RPS6KB1), p90 ribosomal protein S6 kinase (RPS6KA1, RPS6KA2 and RPS6KA3), cyclic AMP-dependent protein kinase (PRKACA), protein kinase C (PRKCD and PRKCZ), serum and glucocorticoid-inducible kinase (SGK1, SGK2 and SGK3), p21-activated kinase-1 (PAK1), TSSK3, protein kinase PKN (PKN1 and PKN2). Plays a central role in the transduction of signals from insulin by providing the activating phosphorylation to PKB/AKT1, thus propagating the signal to downstream targets controlling cell proliferation and survival, as well as glucose and amino acid uptake and storage. Negatively regulates the TGF-beta-induced signalling by: modulating the association of SMAD3 and SMAD7 with TGF-beta receptor, phosphorylating SMAD2, SMAD3, SMAD4 and SMAD7, preventing the nuclear translocation of SMAD3 and SMAD4 and the translocation of SMAD7 from the nucleus to the cytoplasm in response to TGF-beta. Activates PPARG transcriptional activity and promotes adipocyte differentiation. Activates the NF-kappa-B pathway via phosphorylation of IKKB. Location: Cytoplasm; Nucleus; Cell membrane; Cell junction, focal adhesion (UniProt). Locus 16p13.3 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"pdzd2","kind":"target","name":"PDZD2","aka":["PDZ domain containing 2","PDZ domain-containing protein 2","KIAA0300","PDZK3"],"tldr":"PDZD2 (PDZ domain-containing protein 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma and Pleural mesothelioma.","summary":"UniProt has no function text for O15018; HGNC names it \"PDZ domain containing 2\".\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18486","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18486"},{"label":"UniProt O15018","url":"https://www.uniprot.org/uniprotkb/O15018/entry"},{"label":"NCBI Gene 23037","url":"https://www.ncbi.nlm.nih.gov/gene/23037"},{"label":"Ensembl ENSG00000133401","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000133401"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["mesothelioma","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PDZD2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18486","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18486","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15018","url":"https://www.uniprot.org/uniprotkb/O15018/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PDZD2","url":"https://www.intogen.org/search?gene=PDZD2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18486","ensembl":"ENSG00000133401","uniprot":"O15018","entrez":"23037","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9205841/","biology":"UniProt has no function text for O15018; HGNC names it \"PDZ domain containing 2\". Location: Nucleus; Cytoplasm; Endoplasmic reticulum; Secreted (UniProt). Locus 5p13.3 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"peg3","kind":"target","name":"PEG3","aka":["paternally expressed 3","Paternally-expressed gene 3 protein","ZKSCAN22","KIAA0287","ZNF904","ZSCAN24"],"tldr":"PEG3 (Paternally-expressed gene 3 protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma.","summary":"Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8826","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8826"},{"label":"UniProt Q9GZU2","url":"https://www.uniprot.org/uniprotkb/Q9GZU2/entry"},{"label":"NCBI Gene 5178","url":"https://www.ncbi.nlm.nih.gov/gene/5178"},{"label":"Ensembl ENSG00000198300","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198300"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PEG3","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8826","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8826","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9GZU2","url":"https://www.uniprot.org/uniprotkb/Q9GZU2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PEG3","url":"https://www.intogen.org/search?gene=PEG3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8826","ensembl":"ENSG00000198300","uniprot":"Q9GZU2","entrez":"5178","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kim et al, Genome Res, 1997, \"The human homolog of a mouse-imprinted gene, Peg3, maps to a zinc finger gene-rich region of human chromosome 19q13.4\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9149948/","biology":"Induces apoptosis in cooperation with SIAH1A. Acts as a mediator between p53/TP53 and BAX in a neuronal death pathway that is activated by DNA damage. Acts synergistically with TRAF2 and inhibits TNF induced apoptosis through activation of NF-kappa-B. Possesses a tumour suppressing activity in glioma cells. Location: Nucleus; Cytoplasm (UniProt). Locus 19q13.43 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"per1","kind":"target","name":"PER1","aka":["period circadian regulator 1","Period circadian protein homolog 1","RIGUI"],"tldr":"PER1 (Period circadian protein homolog 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Lung cancer, Gastric & gastro-oesophageal junction cancer and 2 more.","summary":"Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behaviour. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8845","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8845"},{"label":"UniProt O15534","url":"https://www.uniprot.org/uniprotkb/O15534/entry"},{"label":"NCBI Gene 5187","url":"https://www.ncbi.nlm.nih.gov/gene/5187"},{"label":"Ensembl ENSG00000179094","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000179094"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","lung-cancer","gastric","colorectal","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PER1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8845","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8845","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15534","url":"https://www.uniprot.org/uniprotkb/O15534/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000179094","url":"https://platform.opentargets.org/target/ENSG00000179094/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: colorectal cancer 0.50, gastric cancer 0.51, melanoma 0.56, skin cancer 0.56, lung cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:8845","ensembl":"ENSG00000179094","uniprot":"O15534","entrez":"5187","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sun Z.S. et al, Cell, 1997, \"Rigui, a putative mammalian ortholog of the Drosophila period gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9323128/","biology":"Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behaviour. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. Location: Nucleus; Cytoplasm (UniProt). Locus 17p13.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.56 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"per3","kind":"target","name":"PER3","aka":["period circadian regulator 3","Period circadian protein homolog 3"],"tldr":"PER3 (Period circadian protein homolog 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"Originally described as a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behaviour. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8847","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8847"},{"label":"UniProt P56645","url":"https://www.uniprot.org/uniprotkb/P56645/entry"},{"label":"NCBI Gene 8863","url":"https://www.ncbi.nlm.nih.gov/gene/8863"},{"label":"Ensembl ENSG00000049246","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000049246"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PER3","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8847","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8847","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P56645","url":"https://www.uniprot.org/uniprotkb/P56645/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PER3","url":"https://www.intogen.org/search?gene=PER3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8847","ensembl":"ENSG00000049246","uniprot":"P56645","entrez":"8863","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rhodes et al, 2000.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P56645/entry","biology":"Originally described as a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behaviour. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. Location: Cytoplasm; Nucleus (UniProt). Locus 1p36.23 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"pgap3","kind":"target","name":"PGAP3","aka":["post-GPI attachment to proteins phospholipase 3","PERLD1","CAB2"],"tldr":"PGAP3 is an enzyme gene in the HER2 amplicon that remodels the lipid anchors of cell-surface proteins.","summary":"17q12 HER2 amplicon neighbour: co-amplified and co-expressed with ERBB2 in HER2-positive breast and gastric cancer, so it appears in HER2-enriched expression signatures as a passenger of the amplification rather than a driver of its own. UniProt describes PGAP3 as acting in the fatty acid remodelling of GPI anchors, replacing an unsaturated acyl chain with a saturated one.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:23719","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23719"},{"label":"UniProt Q96FM1","url":"https://www.uniprot.org/uniprotkb/Q96FM1/entry"}],"tags":["cansim-terms"],"related":["her2"],"cancers":["breast-cancer","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["co-amplification","cancer-ai-vocabulary"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"PGAP3","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23719","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23719","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt Q96FM1","url":"https://www.uniprot.org/uniprotkb/Q96FM1/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:23719","ensembl":"ENSG00000161395","uniprot":"Q96FM1","entrez":"93210","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nezu et al, Jpn. J. Cancer Res, 2002, \"Identification of the CAB2/hCOS16 gene required for the repair of DNA double-strand breaks on a core amplified region of the 17q12 locus in breast and gastric cancers\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12460457/","biology":"Phospholipase involved in the fatty acid remodelling steps of GPI-anchor maturation; ubiquitously expressed, highest in thyroid and placenta (UniProt Q96FM1).","whereFound":["Locus 17q12 (HGNC)."],"targetClass":"enzyme","prevalence":[]},{"id":"phf6","kind":"target","name":"PHF6","aka":["PHD finger protein 6","KIAA1823","MGC14797","CENP-31"],"tldr":"PHF6 (PHD finger protein 6) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Non-Hodgkin lymphoma, Myeloproliferative neoplasms and 5 more.","summary":"Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.97, animal model 0.29, genetic association 0.00, somatic mutation 0.91). IntOGen calls it a driver in 5 cohorts (2 activating, 3 loss-of-function), covering Acute Lymphoblastic Leukaemia, Acute Myeloid Leukaemia, Burkitt Lymphoma, Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18145","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18145"},{"label":"UniProt Q8IWS0","url":"https://www.uniprot.org/uniprotkb/Q8IWS0/entry"},{"label":"NCBI Gene 84295","url":"https://www.ncbi.nlm.nih.gov/gene/84295"},{"label":"Ensembl ENSG00000156531","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156531"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","myeloproliferative-neoplasms","breast-cancer","aml","all-leukemia","burkitt-lymphoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PHF6","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18145","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18145","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IWS0","url":"https://www.uniprot.org/uniprotkb/Q8IWS0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000156531","url":"https://platform.opentargets.org/target/ENSG00000156531/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.53, acute lymphoblastic leukaemia 0.56, non-Hodgkin lymphoma 0.61, myeloproliferative neoplasm 0.55, breast cancer 0.52, leukaemia 0.65 (GraphQL API, CC0)"},{"label":"IntOGen PHF6","url":"https://www.intogen.org/search?gene=PHF6","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18145","ensembl":"ENSG00000156531","uniprot":"Q8IWS0","entrez":"84295","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11347906/","biology":"Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription. Location: Nucleus; Nucleus, nucleolus; Chromosome, centromere, kinetochore (UniProt). Locus Xq26.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.65 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Myeloproliferative neoplasms: Open Targets association 0.55 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Acute myeloid leukaemia: Open Targets association 0.53 with acute myeloid leukaemia (MONDO_0018874); IntOGen driver in 2 cohorts (AML)","Acute lymphoblastic leukaemia: Open Targets association 0.56 with acute lymphoblastic leukaemia (MONDO_0004967); IntOGen driver in 1 cohort (ALL)"],"targetClass":"transcription","prevalence":[]},{"id":"phlda1","kind":"target","name":"PHLDA1","aka":["pleckstrin homology like domain family A member 1","TDAG51"],"tldr":"PHLDA1 is a growth-factor-responsive gene involved in cell death; it is high in benign moles and falls as melanoma progresses.","summary":"UniProt describes PHLDA1 (TDAG51) as an apoptosis regulator whose protein is strong in benign naevi and progressively lost in melanoma. The PHLDA family genes are induced downstream of receptor tyrosine kinase and MAPK signalling, which puts them among the MAPK-responsive output genes read from expression.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:8933","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8933"},{"label":"UniProt Q8WV24","url":"https://www.uniprot.org/uniprotkb/Q8WV24/entry"}],"tags":["cansim-terms"],"related":[],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ras-mapk"],"terms":["co-amplification","cancer-ai-vocabulary"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"PHLDA1","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8933","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8933","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt Q8WV24","url":"https://www.uniprot.org/uniprotkb/Q8WV24/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:8933","ensembl":"ENSG00000139289","uniprot":"Q8WV24","entrez":"22822","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wagner F.F. et al, 1995, \"A cDNA, which predicts a protein with PQ-rich repeats, isolated from a phage library of human fetal liver tissue\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8WV24/entry","biology":"Involved in regulation of apoptosis, possibly detachment-mediated cell death, and in the anti-apoptotic effects of IGF1; widely expressed, strongly in benign melanocytic naevi and progressively reduced in primary and metastatic melanoma at the protein level (UniProt Q8WV24).","whereFound":["Locus 12q21.2 (HGNC)."],"targetClass":"other","prevalence":[]},{"id":"phlpp2","kind":"target","name":"PHLPP2","aka":["PH domain and leucine rich repeat protein phosphatase 2","PHLPPL","PPM3B"],"tldr":"PHLPP2 is a phosphatase that switches AKT off; it is lost in most colorectal cancers, which leaves the survival pathway on.","summary":"UniProt describes PHLPP2 as the phosphatase that removes the activating Ser-473 phosphate from AKT1 and equivalent sites on PKC, and records that its protein is lost in about four in five colorectal cancers. It is a case where the protein, not the transcript, tells the story: a PI3K/AKT activation state that RNA alone cannot see.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:29149","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29149"},{"label":"UniProt Q6ZVD8","url":"https://www.uniprot.org/uniprotkb/Q6ZVD8/entry"}],"tags":["cansim-terms"],"related":[],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["pi3k-akt-mtor"],"terms":["co-amplification","cancer-ai-vocabulary","pathway-activation-state","mrna-protein-concordance"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"PHLPP2","role":["tumour-suppressor","biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:29149","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29149","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt Q6ZVD8","url":"https://www.uniprot.org/uniprotkb/Q6ZVD8/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:29149","ensembl":"ENSG00000040199","uniprot":"Q6ZVD8","entrez":"23035","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10231032/","biology":"Protein phosphatase that dephosphorylates Ser-473 of AKT1 and hydrophobic-motif sites of PKC isoforms; expression lost or significantly decreased in about 80 percent of tested colorectal tumours at the protein level (UniProt Q6ZVD8).","whereFound":["Locus 16q22.2 (HGNC)."],"targetClass":"enzyme","prevalence":[]},{"id":"phox2b","kind":"target","name":"PHOX2B","aka":["paired like homeobox 2B","Paired mesoderm homeobox protein 2B","NBPhox","PMX2B"],"tldr":"PHOX2B (Paired mesoderm homeobox protein 2B) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Colorectal cancer, Lung cancer and 2 more.","summary":"Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.62, animal model 0.55, genetic association 0.02, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9143","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9143"},{"label":"UniProt Q99453","url":"https://www.uniprot.org/uniprotkb/Q99453/entry"},{"label":"NCBI Gene 8929","url":"https://www.ncbi.nlm.nih.gov/gene/8929"},{"label":"Ensembl ENSG00000109132","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109132"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","colorectal","lung-cancer","neuroblastoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PHOX2B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9143","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9143","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99453","url":"https://www.uniprot.org/uniprotkb/Q99453/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000109132","url":"https://platform.opentargets.org/target/ENSG00000109132/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: colorectal cancer 0.53, melanoma 0.57, neuroblastoma 0.63, skin cancer 0.56, lung cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9143","ensembl":"ENSG00000109132","uniprot":"Q99453","entrez":"8929","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yokoyama et al, DNA Res, 1996, \"Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9039501/","biology":"Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element. Location: Nucleus (UniProt). Locus 4p13 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Neuroblastoma: Open Targets association 0.63 with neuroblastoma (MONDO_0005072)","Melanoma: Open Targets association 0.57 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"pik3cd","kind":"target","name":"PI3K delta (PIK3CD)","aka":[],"tldr":"The blood-cell version of the PI3K survival signal that keeps B cells alive. Idelalisib, duvelisib and copanlisib block it in chronic lymphocytic leukaemia and follicular lymphoma, at the price of immune-related colitis, liver inflammation and infections that have limited their use.","summary":"The delta isoform of PI3K is restricted to white blood cells and relays B-cell receptor signalling, so blocking it starves malignant B cells of a survival signal. Idelalisib was approved in 2014 for relapsed CLL with rituximab and for follicular lymphoma, duvelisib in 2018 and copanlisib in 2017, but autoimmune-type toxicities, opportunistic infections and unfavourable survival signals in confirmatory trials led to the withdrawal of the follicular lymphoma indications in 2022 and of copanlisib in 2023. BTK inhibitors and venetoclax have largely taken their place, and the class is a case study in the limits of accelerated approval.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/PIK3CD","links":[{"label":"UniProt O00329: PIK3CD","url":"https://www.uniprot.org/uniprotkb/O00329/entry"}],"tags":[],"related":[],"cancers":["cll","follicular-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["idelalisib","duvelisib","copanlisib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PIK3CD","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal bone marrow cells and lymphoid tissue cells: HPA finds the gene tissue enhanced in bone marrow, lymphoid tissue, and the 3 medicines aimed at it (Idelalisib, Duvelisib, Copanlisib) act on the wild-type protein, so the normal lineage is hit too. HPA PIK3CD: RNA tissue enhanced (bone marrow 44 nTPM, lymphoid tissue 45 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 4 specific cancer types at or above 0.5 (B-cell chronic lymphocytic leukemia, follicular lymphoma, non-Hodgkin lymphoma, marginal zone lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PIK3CD tissue","url":"https://www.proteinatlas.org/ENSG00000171608-PIK3CD/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PIK3CD pathology","url":"https://www.proteinatlas.org/ENSG00000171608-PIK3CD/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171608 associations","url":"https://platform.opentargets.org/target/ENSG00000171608/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8977","ensembl":"ENSG00000171608","uniprot":"O00329","entrez":"5293","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vanhaesebroeck B.A.M. et al, Proc. Natl. Acad. Sci. U.S.A, 1997, \"P110delta, a novel phosphoinositide 3-kinase in leukocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9113989/","biology":"Leukocyte-restricted class I PI3K catalytic subunit downstream of the B-cell receptor; isoform-selective inhibitors spare the ubiquitous alpha and beta isoforms.","whereFound":["Chronic lymphocytic leukaemia","Follicular lymphoma"],"targetClass":"kinase","prevalence":[{"cancerId":"cll","pct":"all","measure":"PI3K delta is the B-cell form of the enzyme, present in essentially every B-cell malignancy; drugs are chosen by disease, not by a test","source":"https://www.cancer.gov/types/leukemia/hp/cll-treatment-pdq"}]},{"id":"pi4ka","kind":"target","name":"PI4KA","aka":["phosphatidylinositol 4-kinase alpha","Phosphatidylinositol 4-kinase alpha","PI4K-ALPHA","pi4K230","PIK4CA"],"tldr":"PI4KA (Phosphatidylinositol 4-kinase alpha) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma and Pleural mesothelioma.","summary":"Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8983","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8983"},{"label":"UniProt P42356","url":"https://www.uniprot.org/uniprotkb/P42356/entry"},{"label":"NCBI Gene 5297","url":"https://www.ncbi.nlm.nih.gov/gene/5297"},{"label":"Ensembl ENSG00000241973","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000241973"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["mesothelioma","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PI4KA","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:8983","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8983","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42356","url":"https://www.uniprot.org/uniprotkb/P42356/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PI4KA","url":"https://www.intogen.org/search?gene=PI4KA","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:8983","ensembl":"ENSG00000241973","uniprot":"P42356","entrez":"5297","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wong et al, J. Biol. Chem, 1994, \"Cloning and characterization of a human phosphatidylinositol 4-kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7961848/","biology":"Acts on phosphatidylinositol (PtdIns) in the first committed step in the production of the second messenger inositol-1,4,5,-trisphosphate. Location: Cytoplasm; Cell membrane (UniProt). Locus 22q11.21 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"kinase","prevalence":[]},{"id":"picalm","kind":"target","name":"PICALM","aka":["phosphatidylinositol binding clathrin assembly protein","Phosphatidylinositol-binding clathrin assembly protein"],"tldr":"PICALM (Phosphatidylinositol-binding clathrin assembly protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Thyroid cancer and Papillary thyroid cancer.","summary":"Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalisation of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly. Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Well-Differentiated Thyroid Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15514","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15514"},{"label":"UniProt Q13492","url":"https://www.uniprot.org/uniprotkb/Q13492/entry"},{"label":"NCBI Gene 8301","url":"https://www.ncbi.nlm.nih.gov/gene/8301"},{"label":"Ensembl ENSG00000073921","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000073921"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["thyroid","papillary-thyroid-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PICALM","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:15514","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15514","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13492","url":"https://www.uniprot.org/uniprotkb/Q13492/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PICALM","url":"https://www.intogen.org/search?gene=PICALM","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:15514","ensembl":"ENSG00000073921","uniprot":"Q13492","entrez":"8301","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dreyling M.H. et al, Proc. Natl. Acad. Sci. U.S.A, 1996, \"The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8643484/","biology":"Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalisation of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly. Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature. In addition to binding to clathrin, mediates the endocytosis of small R-SNARES (Soluble NSF Attachment Protein REceptors) between plasma membranes and endosomes including VAMP2, VAMP3, VAMP4, VAMP7 or VAMP8. In turn, PICALM-dependent SNARE endocytosis is required for the formation and maturation of autophagic precursors. Modulates thereby autophagy and the turnover of autophagy substrates such as MAPT/TAU or amyloid precursor protein cleaved C-terminal fragment (APP-CTF). Location: Cell membrane; Membrane, clathrin-coated pit; Golgi apparatus; Cytoplasmic vesicle, clathrin-coated vesicle (UniProt). Locus 11q14.2 (HGNC).","whereFound":["Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Papillary thyroid cancer: IntOGen driver in 1 cohort (WDTC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"pik3ca","kind":"target","name":"PIK3CA / PI3K-alpha","aka":[],"tldr":"PIK3CA is the most commonly mutated gene in hormone-driven breast cancer. Drugs against it work, but hitting it cleanly without raising blood sugar took years.","summary":"PIK3CA mutations occur in ~40% of HR+ breast cancer. Alpelisib (SOLAR-1), inavolisib (INAVO120, mutant-selective, with palbociclib and fulvestrant), and capivasertib (AKT) are approved. Gedatolisib (pan-PI3K/mTOR, Revtorpyk) was approved in 2026. Mutant-selective and allosteric inhibitors (RLY-2608) aim to avoid hyperglycaemia.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/P110α","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/P110α"}],"tags":["driver","kinase"],"related":["pik3ca-hotspot-mutation"],"cancers":["breast-hr-positive","endometrial","head-and-neck","tnbc","colorectal","gallbladder","nsclc","prostate"],"sections":[],"technologies":["pi3k-akt-mtor-inhibitors"],"targets":[],"drugs":["therascreen-cdx","tersolisib","zovegalisib","serabelisib"],"companies":["bridgebio-oncology-therapeutics","cogent-biosciences","relay-therapeutics","scorpion-therapeutics"],"institutions":[],"pathways":["pi3k-akt-mtor","breast-cancer-signalling","chemical-carcinogenesis-receptor-activation","colorectal-cancer-signalling","endometrial-cancer-signalling","gastric-cancer-signalling","glioma-signalling","pancreatic-cancer-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-breast-molecular-portraits-nature-2012","paper-bareche-tnbc-multiomic-heterogeneity-ann-oncol-2018","paper-jiang-fuscc-tnbc-landscape-cancer-cell-2019","paper-narayan-gallbladder-regional-mutations-cancer-2019","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-kris-lung-cancer-mutation-consortium-jama-2014","paper-tcga-lung-squamous-nature-2012","paper-tcga-molecular-taxonomy-primary-prostate-cell-2015","paper-carver-pi3k-ar-reciprocal-feedback-prostate-cancer-cell-2011"],"journals":[],"dependsOn":[],"notes":["Colorectal cancer: hotspot mutation in 20 to 28% (E545K, H1047R and E542K the commonest), enriched on the right (32.4% against 15.5%) and in mismatch repair deficient tumours (45.2% against 17.6%; cBioPortal). No PI3K or AKT inhibitor is approved in this disease; the interest is as a co-mutation that blunts EGFR antibody benefit and as the basis of the aspirin hypothesis.","Lung cancer: hotspot mutated in 5 to 7% of adenocarcinomas, where it is usually a passenger alongside a real driver, and in 11 to 16% of squamous tumours with high-level amplification on top in 37.8%, part of the 3q26 gain that also carries SOX2 (cBioPortal). The pathway was altered in 47% of squamous tumours in the founding analysis and has the longest record of failed trials in that histology (Cancer Genome Atlas Research Network 2012)."],"symbol":"PIK3CA","role":[],"sources":[],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (PIK3CA mutation) absent from normal cells. HPA PIK3CA: RNA low tissue specificity; high antibody staining in 20 normal tissues; highest cancer staining colorectal cancer (11 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Endometrial cancer, Head and neck squamous cell carcinoma, Biliary tract cancer (all types), Colorectal cancer); approvals of single-target medicines aimed at it also list Lymphoma, Leukaemia, not counted; Open Targets associates it with 23 specific cancer types at or above 0.5 (CLOVES syndrome, breast cancer, ovarian cancer, breast adenocarcinoma, hepatocellular carcinoma, non-small cell lung carcinoma and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"PIK3CA mutation label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=b20b4e18-7a4b-4500-a08f-06c6dab0ee5b","note":"PIK3CA-mutated"},{"label":"Human Protein Atlas PIK3CA tissue","url":"https://www.proteinatlas.org/ENSG00000121879-PIK3CA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000121879 associations","url":"https://platform.opentargets.org/target/ENSG00000121879/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8975","ensembl":"ENSG00000121879","uniprot":"P42336","entrez":"5290","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Volinia et al, Genomics, 1994, \"Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110 alpha (PIK3CA) gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7713498/","biology":"PIK3CA encodes the catalytic subunit of PI3K; H1047R and E545K are the hotspots.","whereFound":["HR+ breast cancer (~40%)","Endometrial","Head and neck","Colorectal","Triple-negative breast cancer: mutation (amplification in a further tenth) 10-18%","Colorectal cancer: hotspot mutation (e542k, e545k, h1047r) 20-28%","Gallbladder cancer: mutation about 11%","Non-small-cell lung cancer: hotspot mutation (e545k, e542k, h1047r) 5-7%","Non-small-cell lung cancer: hotspot mutation and high-level amplification 11-38%","Prostate cancer: activating mutation, plus amplification of pik3ca or pik3cb 2-9% depending on disease state"],"targetClass":"kinase","prevalence":[{"cancerId":"breast-hr-positive","pct":"35-40","measure":"Activating mutation","source":"https://www.cbioportal.org/study/summary?id=brca_tcga_pan_can_atlas_2018"},{"cancerId":"endometrial","pct":"45-55","measure":"Activating mutation","source":"https://www.cbioportal.org/study/summary?id=ucec_tcga_pan_can_atlas_2018"},{"cancerId":"head-and-neck","pct":"15-20","measure":"Activating mutation","source":"https://www.cbioportal.org/study/summary?id=hnsc_tcga_pan_can_atlas_2018","note":"HPV+ enriched"},{"cancerId":"colorectal","pct":"15-20","measure":"Activating mutation","source":"https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018"},{"cancerId":"tnbc","pct":"10-18","measure":"Mutation (amplification in a further tenth)","source":"https://doi.org/10.1038/nature11412","note":"9% of basal-like tumours (Cancer Genome Atlas 2012); 20% of 447 sequenced TNBCs, 55% within the LAR subtype (Bareche 2018); cBioPortal: 9 of 84, 10.7%, in brca_tcga_pub and 14 of 123, 11.4%, on the 2018 calls; 53 of 299, 17.7%, in brca_metabric; 23 of 176, 13.1%, in breast_msk_2018. PIK3CA amplification in 10 of 119, 8.4%, (brca_tcga_pan_can_atlas_2018) and 34 of 320, 10.6%, (brca_metabric)."},{"cancerId":"colorectal","pct":"20-28","measure":"Hotspot mutation (E542K, E545K, H1047R)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 1,486 of 7,237, 20.5%, in crc_msk_2026 (E545K 331, H1047R 232, E542K 216 samples); 229 of 1,134, 20.2%, in crc_msk_2017; 298 of 1,516, 19.7%, in crc_eo_2020; 147 of 534, 27.5%, in coadread_tcga_pan_can_atlas_2018; 45 of 224, 20.1%, in coadread_tcga_pub; 132 of 619, 21.3%, in coadread_dfci_2016; 130 of 1,015, 12.8%, in crc_sysucc_2022."},{"cancerId":"gallbladder","pct":11,"measure":"Mutation","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Mutation in 26 of 244 samples, 10.7%, in cBioPortal gbc_mskcc_2022 and 11 of 103, 10.7%, in gbc_msk_2018; 6.2% of 32 exomes in gbc_shanghai_2014; absent from the 11 Japanese tumours in Narayan 2019; named among the actionable variants in 35% of patients (Giraldo 2022)."},{"cancerId":"nsclc","pct":"5-7","measure":"Hotspot mutation (E545K, E542K, H1047R)","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal: 159 of 2,653, 6.0%, in luad_mskcc_2023_met_organotropism (E545K 53, E542K 20, H1047R 16 records); 65 of 915, 7.1%, in lung_msk_2017; 28 of 566, 4.9%, in luad_tcga_pan_can_atlas_2018; 12 of 302, 4.0%, in luad_oncosg_2020. It was the driver in 6 of 733 fully genotyped adenocarcinomas, under 1% (Kris 2014)."},{"cancerId":"nsclc","pct":"11-38","measure":"Hotspot mutation and high-level amplification","source":"https://www.cbioportal.org/study/summary?id=lusc_tcga_pan_can_atlas_2018","note":"cBioPortal: mutation in 53 of 484, 11.0%, plus high-level amplification in 184 of 487, 37.8%, in lusc_tcga_pan_can_atlas_2018; mutation 28 of 178, 15.7%, plus amplification 68 of 178, 38.2%, in lusc_tcga_pub; mutation 11 of 108, 10.2%, in lusc_cptac_2021; amplification 208 of 1,144, 18.2%, in nsclc_tcga_broad_2016. E545K (13 records) and E542K (13) lead, with H1047R (5) behind, the reverse of the breast cancer pattern. PTEN is mutated in 51 of 484, 10.5%, with deep deletion in 48 of 487, 9.9%. The founding paper counted the phosphatidylinositol-3-kinase pathway altered in 47% of tumours (Cancer Genome Atlas Research Network 2012)."},{"cancerId":"prostate","pct":"2-9","measure":"Activating mutation, plus amplification of PIK3CA or PIK3CB","source":"https://www.cbioportal.org/study/summary?id=prostate_msk_2024","note":"cBioPortal mutation: PIK3CA 110 of 2,260, 4.9%, in prostate_msk_2024; 24 of 424, 5.7%, in prad_mcspc_mskcc_2020; 14 of 444, 3.2%, in prad_su2c_2019; 10 of 494, 2.0%, in prad_tcga_pan_can_atlas_2018. PIK3CB mutation 31 of 2,260, 1.4%, with amplification 17; AKT1 mutation 42 of 2,260, 1.9%. PIK3CA hotspot records in prostate_msk_2024: E545K 18, E542K 16, H1047R 12 of 116 records. The TCGA taxonomy paper counted a presumed actionable lesion in the PI3K or MAPK pathways in 25% of 333 primary tumours once PTEN was included (Cancer Genome Atlas Research Network 2015)."}]},{"id":"pik3cb","kind":"target","name":"PIK3CB","aka":["phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta","Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform","PIK3C1"],"tldr":"PIK3CB is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol derivatives at position 3 of the inositol ring to produce 3-phosphoinositides. Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signalling cascades involved in cell growth, survival, proliferation, motility and morphology.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Doxorubicin. Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes clinical 0.67, affected pathway 0.86, literature 0.99, genetic association 0.31, somatic mutation 0.86, animal model 0.39). IntOGen calls it a driver in 5 cohorts (4 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma, Glioblastoma Multiforme, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8976","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8976"},{"label":"UniProt P42338","url":"https://www.uniprot.org/uniprotkb/P42338/entry"},{"label":"NCBI Gene 5291","url":"https://www.ncbi.nlm.nih.gov/gene/5291"},{"label":"Ensembl ENSG00000051382","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000051382"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","sarcoma","prostate","urothelial","skin-cancer","lung-cancer","ovarian","head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67; IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PIK3CB","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8976","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8976","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42338","url":"https://www.uniprot.org/uniprotkb/P42338/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PIK3CB","url":"https://civicdb.org/features/4285","note":"2 evidence items, 0 assertions, 2 variants; diseases: Sarcoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000051382","url":"https://platform.opentargets.org/target/ENSG00000051382/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.51, ovarian cancer 0.51, head and neck squamous cell carcinoma 0.50, skin cancer 0.55, breast cancer 0.67, lung cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen PIK3CB","url":"https://www.intogen.org/search?gene=PIK3CB","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PIK3CB: RNA low tissue specificity; no normal tissue stained high; highest cancer staining carcinoid (2 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Sarcomas (soft tissue, bone, GIST), Prostate cancer, Bladder & urothelial cancer, Skin cancer (all types), Lung cancer (all types), Ovarian cancer and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P42338","url":"https://www.uniprot.org/uniprotkb/P42338/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PIK3CB","url":"https://civicdb.org/features/4285","note":"2 evidence items, 0 assertions, 2 variants; diseases: Sarcoma (GraphQL API, CC0)"},{"label":"IntOGen PIK3CB","url":"https://www.intogen.org/search?gene=PIK3CB","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PIK3CB tissue","url":"https://www.proteinatlas.org/ENSG00000051382-PIK3CB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000051382 associations","url":"https://platform.opentargets.org/target/ENSG00000051382/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8976","ensembl":"ENSG00000051382","uniprot":"P42338","entrez":"5291","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hu et al, Mol. Cell. Biol, 1993, \"Cloning of a novel, ubiquitously expressed human phosphatidylinositol 3-kinase and identification of its binding site on p85\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8246984/","biology":"Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol derivatives at position 3 of the inositol ring to produce 3-phosphoinositides. Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signalling cascades involved in cell growth, survival, proliferation, motility and morphology. Involved in the activation of AKT1 upon stimulation by G protein-coupled receptor (GPCR) ligands such as CXCL12, sphingosine 1-phosphate, and lysophosphatidic acid. May also act downstream receptor tyrosine kinases. Required in different signalling pathways for stable platelet adhesion and aggregation. Location: Cytoplasm; Nucleus (UniProt). Locus 3q22.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.67 with breast cancer (MONDO_0007254)","Sarcomas: CIViC evidence names this disease","Prostate cancer: IntOGen driver in 2 cohorts (PRAD)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)"],"targetClass":"kinase","prevalence":[]},{"id":"pik3cg","kind":"target","name":"PIK3CG","aka":["phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma","Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform"],"tldr":"PIK3CG (Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma, Leukaemia, Acute lymphoblastic leukaemia and 2 more.","summary":"Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signalling cascades involved in cell growth, survival, proliferation, motility and morphology. Links G protein coupled receptor activation to PIP3 production.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes clinical 0.67, affected pathway 0.61, literature 0.99, genetic association 0.30, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8978","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8978"},{"label":"UniProt P48736","url":"https://www.uniprot.org/uniprotkb/P48736/entry"},{"label":"NCBI Gene 5294","url":"https://www.ncbi.nlm.nih.gov/gene/5294"},{"label":"Ensembl ENSG00000105851","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105851"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","leukaemia","all-leukemia","cll","follicular-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.95. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PIK3CG","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:8978","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8978","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48736","url":"https://www.uniprot.org/uniprotkb/P48736/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105851","url":"https://platform.opentargets.org/target/ENSG00000105851/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.58, B-cell chronic lymphocytic leukaemia 0.57, non-Hodgkin lymphoma 0.61, follicular lymphoma 0.55, leukaemia 0.58 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PIK3CG: RNA group enriched (bone marrow 41 nTPM, lymphoid tissue 18 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia); Open Targets associates it with 2 specific cancer types at or above 0.5 (B-cell chronic lymphocytic leukemia, follicular lymphoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PIK3CG tissue","url":"https://www.proteinatlas.org/ENSG00000105851-PIK3CG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105851 associations","url":"https://platform.opentargets.org/target/ENSG00000105851/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8978","ensembl":"ENSG00000105851","uniprot":"P48736","entrez":"5294","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stoyanov et al, Science, 1995, \"Cloning and characterization of a G protein-activated human phosphoinositide-3 kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7624799/","biology":"Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signalling cascades involved in cell growth, survival, proliferation, motility and morphology. Links G protein coupled receptor activation to PIP3 production. Involved in immune, inflammatory and allergic responses. Modulates leukocyte chemotaxis to inflammatory sites and in response to chemoattractant agents. May control leukocyte polarisation and migration by regulating the spatial accumulation of PIP3 and by regulating the organisation of F-actin formation and integrin-based adhesion at the leading edge. Location: Cytoplasm; Cell membrane (UniProt). Locus 7q22.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.58 with leukaemia (MONDO_0005059)","Acute lymphoblastic leukaemia: Open Targets association 0.58 with acute lymphoblastic leukaemia (MONDO_0004967)","Chronic lymphocytic leukaemia: Open Targets association 0.57 with B-cell chronic lymphocytic leukaemia (MONDO_0004948)","Follicular lymphoma: Open Targets association 0.55 with follicular lymphoma (MONDO_0018906)"],"targetClass":"kinase","prevalence":[]},{"id":"pik3r1","kind":"target","name":"PIK3R1","aka":["phosphoinositide-3-kinase regulatory subunit 1","Phosphatidylinositol 3-kinase regulatory subunit alpha","GRB1","p85-ALPHA","p85","p85alpha"],"tldr":"PIK3R1 (Phosphatidylinositol 3-kinase regulatory subunit alpha) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Colorectal cancer, Breast cancer and 5 more.","summary":"Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signalling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 2 variants, naming Doxorubicin, Buparlisib, MTOR Kinase Inhibitor PP242 and Aspirin. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes clinical 0.67, affected pathway 0.85, literature 0.98, genetic association 0.71, somatic mutation 0.91). IntOGen calls it a driver in 24 cohorts (9 activating, 14 loss-of-function), covering Adenoid Cystic Carcinoma, Invasive Breast Carcinoma, Cholangiocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Glioblastoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8979","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8979"},{"label":"UniProt P27986","url":"https://www.uniprot.org/uniprotkb/P27986/entry"},{"label":"NCBI Gene 5295","url":"https://www.ncbi.nlm.nih.gov/gene/5295"},{"label":"Ensembl ENSG00000145675","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145675"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["endometrial","colorectal","breast-cancer","skin-cancer","sarcoma","gastric","leukaemia","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67; IntOGen calls it an activating (Act) driver in 9 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 14 cohorts; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PIK3R1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8979","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8979","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P27986","url":"https://www.uniprot.org/uniprotkb/P27986/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PIK3R1","url":"https://civicdb.org/features/4289","note":"4 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Glioblastoma, Breast Cancer, Sarcoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000145675","url":"https://platform.opentargets.org/target/ENSG00000145675/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: colorectal cancer 0.68, ovarian cancer 0.56, endometrial cancer 0.71, melanoma 0.57, glioblastoma 0.59, skin cancer 0.63 (GraphQL API, CC0)"},{"label":"IntOGen PIK3R1","url":"https://www.intogen.org/search?gene=PIK3R1","note":"driver in 24 cohorts (Act 9, LoF 14); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PIK3R1: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining lymphoma (9 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Endometrial cancer, Colorectal cancer, Breast cancer (all types), Skin cancer (all types), Sarcomas (soft tissue, bone, GIST), Gastric & gastro-oesophageal junction cancer, Leukaemia and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (endometrial cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P27986","url":"https://www.uniprot.org/uniprotkb/P27986/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PIK3R1","url":"https://civicdb.org/features/4289","note":"4 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Glioblastoma, Breast Cancer, Sarcoma (GraphQL API, CC0)"},{"label":"IntOGen PIK3R1","url":"https://www.intogen.org/search?gene=PIK3R1","note":"driver in 24 cohorts (Act 9, LoF 14); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PIK3R1 tissue","url":"https://www.proteinatlas.org/ENSG00000145675-PIK3R1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000145675 associations","url":"https://platform.opentargets.org/target/ENSG00000145675/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8979","ensembl":"ENSG00000145675","uniprot":"P27986","entrez":"5295","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Skolnik E.Y. et al, Cell, 1991, \"Cloning of PI3 kinase-associated p85 utilizing a novel method for expression/cloning of target proteins for receptor tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1849461/","biology":"Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signalling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signalling. Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement. Location: Cytoplasm (UniProt). Locus 5q13.1 (HGNC).","whereFound":["Endometrial cancer: Open Targets association 0.71 with endometrial cancer (MONDO_0011962); IntOGen driver in 4 cohorts (UCEC)","Colorectal cancer: Open Targets association 0.68 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Breast cancer: Open Targets association 0.60 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Skin cancer: Open Targets association 0.63 with skin cancer (MONDO_0002898)","Sarcomas: CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 2 cohorts (STAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"pik3r2","kind":"target","name":"PIK3R2","aka":["phosphoinositide-3-kinase regulatory subunit 2","Phosphatidylinositol 3-kinase regulatory subunit beta","P85B","p85","p85beta","p85-BETA"],"tldr":"PIK3R2 (Phosphatidylinositol 3-kinase regulatory subunit beta) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signalling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants, naming Vemurafenib. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes clinical 0.67, affected pathway 0.86, literature 0.91, genetic association 0.00, somatic mutation 0.50).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8980","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8980"},{"label":"UniProt O00459","url":"https://www.uniprot.org/uniprotkb/O00459/entry"},{"label":"NCBI Gene 5296","url":"https://www.ncbi.nlm.nih.gov/gene/5296"},{"label":"Ensembl ENSG00000105647","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105647"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PIK3R2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8980","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8980","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00459","url":"https://www.uniprot.org/uniprotkb/O00459/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PIK3R2","url":"https://civicdb.org/features/4290","note":"3 evidence items, 0 assertions, 3 variants; diseases: Melanoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000105647","url":"https://platform.opentargets.org/target/ENSG00000105647/associations","note":"association with cancer (MONDO_0004992) 0.71;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PIK3R2: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining breast cancer (8 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PIK3R2 tissue","url":"https://www.proteinatlas.org/ENSG00000105647-PIK3R2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105647 associations","url":"https://platform.opentargets.org/target/ENSG00000105647/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8980","ensembl":"ENSG00000105647","uniprot":"O00459","entrez":"5296","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Volinia et al, Oncogene, 1992, \"Chromosomal localization of human p85 alpha, a subunit of phosphatidylinositol 3-kinase, and its homologue p85 beta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1314371/","biology":"Regulatory subunit of phosphoinositide-3-kinase (PI3K), a kinase that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signalling cascades involved in cell growth, survival, proliferation, motility and morphology. Binds to activated (phosphorylated) protein-tyrosine kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Indirectly regulates autophagy. Promotes nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement. Locus 19p13.11 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"pik3r3","kind":"target","name":"PIK3R3","aka":["phosphoinositide-3-kinase regulatory subunit 3","Phosphatidylinositol 3-kinase regulatory subunit gamma","p55"],"tldr":"PIK3R3 (Phosphatidylinositol 3-kinase regulatory subunit gamma) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes clinical 0.67, affected pathway 0.76, literature 0.97, genetic association 0.49, somatic mutation 0.50).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8981","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8981"},{"label":"UniProt Q92569","url":"https://www.uniprot.org/uniprotkb/Q92569/entry"},{"label":"NCBI Gene 8503","url":"https://www.ncbi.nlm.nih.gov/gene/8503"},{"label":"Ensembl ENSG00000117461","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000117461"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PIK3R3","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8981","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8981","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92569","url":"https://www.uniprot.org/uniprotkb/Q92569/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000117461","url":"https://platform.opentargets.org/target/ENSG00000117461/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: breast cancer 0.51 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PIK3R3: RNA low tissue specificity; blood lineage group enriched (granulocytes 6 nTPM, monocytes 2 nTPM, T-cells 2 nTPM); high antibody staining in 10 normal tissues; highest cancer staining melanoma (1 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PIK3R3 tissue","url":"https://www.proteinatlas.org/ENSG00000117461-PIK3R3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000117461 associations","url":"https://platform.opentargets.org/target/ENSG00000117461/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8981","ensembl":"ENSG00000117461","uniprot":"Q92569","entrez":"8503","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Suzuki, 1996, \"Molecular cloning of human p55pik\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q92569/entry","biology":"Binds to activated (phosphorylated) protein-tyrosine kinases through its SH2 domain and regulates their kinase activity. During insulin stimulation, it also binds to IRS-1. Locus 1p34.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"other","prevalence":[]},{"id":"pik3r5","kind":"target","name":"PIK3R5","aka":["phosphoinositide-3-kinase regulatory subunit 5","Phosphoinositide 3-kinase regulatory subunit 5","P101-PI3K","p101"],"tldr":"PIK3R5 (Phosphoinositide 3-kinase regulatory subunit 5) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.71, affected pathway 0.61, genetic association 0.00, clinical 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30035","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30035"},{"label":"UniProt Q8WYR1","url":"https://www.uniprot.org/uniprotkb/Q8WYR1/entry"},{"label":"NCBI Gene 23533","url":"https://www.ncbi.nlm.nih.gov/gene/23533"},{"label":"Ensembl ENSG00000141506","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141506"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PIK3R5","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:30035","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30035","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WYR1","url":"https://www.uniprot.org/uniprotkb/Q8WYR1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141506","url":"https://platform.opentargets.org/target/ENSG00000141506/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PIK3R5: RNA tissue enhanced (bone marrow 84 nTPM); no normal tissue stained high; highest cancer staining pancreatic cancer (3 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PIK3R5 tissue","url":"https://www.proteinatlas.org/ENSG00000141506-PIK3R5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000141506 associations","url":"https://platform.opentargets.org/target/ENSG00000141506/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:30035","ensembl":"ENSG00000141506","uniprot":"Q8WYR1","entrez":"23533","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yazaki et al, 1999, \"Molecular cloning of a human novel gene, FOAP-2, which are highly expressed in macrophages\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8WYR1/entry","biology":"Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG. Location: Nucleus; Cytoplasm; Cell membrane (UniProt). Locus 17p13.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"pim1","kind":"target","name":"PIM1","aka":["Pim-1 proto-oncogene, serine/threonine kinase","Serine/threonine-protein kinase pim-1"],"tldr":"PIM1 is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation and thus providing a selective advantage in tumorigenesis. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression and by phosphorylation and inhibition of proapoptotic proteins (BAD, MAP3K5, FOXO3). Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase of transcriptional activity.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 5 variants, naming Ibrutinib. Open Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.48, somatic mutation 0.83, clinical 0.12). IntOGen calls it a driver in 6 cohorts (3 activating, 3 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Non-Hodgkin Lymphoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8986","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8986"},{"label":"UniProt P11309","url":"https://www.uniprot.org/uniprotkb/P11309/entry"},{"label":"NCBI Gene 5292","url":"https://www.ncbi.nlm.nih.gov/gene/5292"},{"label":"Ensembl ENSG00000137193","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137193"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma","dlbcl","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.12; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Diffuse Large B-cell Lymphoma Activated B-cell Type."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PIM1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8986","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8986","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11309","url":"https://www.uniprot.org/uniprotkb/P11309/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PIM1","url":"https://civicdb.org/features/4286","note":"5 evidence items, 0 assertions, 5 variants; diseases: Diffuse Large B-cell Lymphoma Activated B-cell Type, Lung Non-small Cell Carcinoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000137193","url":"https://platform.opentargets.org/target/ENSG00000137193/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.65, non-Hodgkin lymphoma 0.67 (GraphQL API, CC0)"},{"label":"IntOGen PIM1","url":"https://www.intogen.org/search?gene=PIM1","note":"driver in 6 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PIM1: RNA tissue enhanced (bone marrow 207 nTPM); blood lineage lineage enriched (granulocytes 323 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P11309","url":"https://www.uniprot.org/uniprotkb/P11309/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PIM1","url":"https://civicdb.org/features/4286","note":"5 evidence items, 0 assertions, 5 variants; diseases: Diffuse Large B-cell Lymphoma Activated B-cell Type, Lung Non-small Cell Carcinoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen PIM1","url":"https://www.intogen.org/search?gene=PIM1","note":"driver in 6 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PIM1 tissue","url":"https://www.proteinatlas.org/ENSG00000137193-PIM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137193 associations","url":"https://platform.opentargets.org/target/ENSG00000137193/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8986","ensembl":"ENSG00000137193","uniprot":"P11309","entrez":"5292","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zakut-Houri et al, Gene, 1987, \"The cDNA sequence and gene analysis of the human pim oncogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3475233/","biology":"Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation and thus providing a selective advantage in tumorigenesis. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression and by phosphorylation and inhibition of proapoptotic proteins (BAD, MAP3K5, FOXO3). Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase of transcriptional activity. The stabilisation of MYC exerted by PIM1 might explain partly the strong synergism between these two oncogenes in tumorigenesis. Mediates survival signalling through phosphorylation of BAD, which induces release of the anti-apoptotic protein Bcl-X(L)/BCL2L1. Phosphorylation of MAP3K5, another proapoptotic protein, by PIM1, significantly decreases MAP3K5 kinase activity and inhibits MAP3K5-mediated phosphorylation of JNK and JNK/p38MAPK subsequently reducing caspase-3 activation and cell apoptosis. Location: Cytoplasm; Nucleus; Cell membrane (UniProt). Locus 6p21.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.67 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (NHL)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Diffuse large B-cell lymphoma: Open Targets association 0.65 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"pim2","kind":"target","name":"PIM2","aka":["Pim-2 proto-oncogene, serine/threonine kinase","Serine/threonine-protein kinase pim-2"],"tldr":"PIM2 (Serine/threonine-protein kinase pim-2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression, the regulation of cap-dependent protein translation and through survival signalling by phosphorylation of a pro-apoptotic protein, BAD. Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase transcriptional activity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8987","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8987"},{"label":"UniProt Q9P1W9","url":"https://www.uniprot.org/uniprotkb/Q9P1W9/entry"},{"label":"NCBI Gene 11040","url":"https://www.ncbi.nlm.nih.gov/gene/11040"},{"label":"Ensembl ENSG00000102096","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102096"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PIM2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8987","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8987","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9P1W9","url":"https://www.uniprot.org/uniprotkb/Q9P1W9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PIM2","url":"https://civicdb.org/features/8813","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PIM2: RNA tissue enhanced (bone marrow 97 nTPM, intestine 82 nTPM, lymphoid tissue 153 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PIM2 tissue","url":"https://www.proteinatlas.org/ENSG00000102096-PIM2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000102096 associations","url":"https://platform.opentargets.org/target/ENSG00000102096/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8987","ensembl":"ENSG00000102096","uniprot":"Q9P1W9","entrez":"11040","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Baytel et al, Biochim. Biophys. Acta, 1998, \"The human Pim-2 proto-oncogene and its testicular expression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9804974/","biology":"Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression, the regulation of cap-dependent protein translation and through survival signalling by phosphorylation of a pro-apoptotic protein, BAD. Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase transcriptional activity. The stabilisation of MYC exerted by PIM2 might explain partly the strong synergism between these 2 oncogenes in tumorigenesis. Regulates cap-dependent protein translation in a mammalian target of rapamycin complex 1 (mTORC1)-independent manner and in parallel to the PI3K-Akt pathway. Mediates survival signalling through phosphorylation of BAD, which induces release of the anti-apoptotic protein Bcl-X(L)/BCL2L1. Locus Xp11.23 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"plag1","kind":"target","name":"PLAG1","aka":["PLAG1 zinc finger","Zinc finger protein PLAG1","ZNF912"],"tldr":"PLAG1 (Zinc finger protein PLAG1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Melanoma and Oral cavity cancer.","summary":"Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.33, somatic mutation 0.87). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Invasive Breast Carcinoma, Cutaneous Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9045","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9045"},{"label":"UniProt Q6DJT9","url":"https://www.uniprot.org/uniprotkb/Q6DJT9/entry"},{"label":"NCBI Gene 5324","url":"https://www.ncbi.nlm.nih.gov/gene/5324"},{"label":"Ensembl ENSG00000181690","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000181690"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","melanoma","oral-cavity-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PLAG1","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9045","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9045","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6DJT9","url":"https://www.uniprot.org/uniprotkb/Q6DJT9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000181690","url":"https://platform.opentargets.org/target/ENSG00000181690/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: breast cancer 0.57, oral cavity cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen PLAG1","url":"https://www.intogen.org/search?gene=PLAG1","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9045","ensembl":"ENSG00000181690","uniprot":"Q6DJT9","entrez":"5324","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kas et al, Nat. Genet, 1997, \"Promoter swapping between the genes for a novel zinc finger protein and beta-catenin in pleiomorphic adenomas with t(3;8)(p21;q12) translocations\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9020842/","biology":"Transcription factor whose activation results in up-regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Overexpression is associated with up-regulation of IGFII, is frequently observed in hepatoblastoma, common primary liver tumour in childhood. Cooperates with CBFB-MYH11, a fusion gene important for myeloid leukaemia. Location: Nucleus (UniProt). Locus 8q12.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Melanoma: IntOGen driver in 1 cohort (SKCM)","Oral cavity cancer: Open Targets association 0.52 with oral cavity cancer (MONDO_0005515)"],"targetClass":"oncogene","prevalence":[]},{"id":"plcg1","kind":"target","name":"PLCG1","aka":["phospholipase C gamma 1","1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1","PLC148","PLC-II","PLCgamma1","NCKAP3","PLC1"],"tldr":"PLCG1 (1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas, Renal cell carcinoma, Non-Hodgkin lymphoma and 5 more.","summary":"Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signalling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, EGFR, FGFR1, FGFR2, FGFR3 and FGFR4.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.97, genetic association 0.17, somatic mutation 0.91). IntOGen calls it a driver in 4 cohorts (4 activating, 0 loss-of-function), covering Angiosarcoma, Low-Grade Glioma, NOS, Renal Cell Carcinoma, Soft Tissue.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9065","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9065"},{"label":"UniProt P19174","url":"https://www.uniprot.org/uniprotkb/P19174/entry"},{"label":"NCBI Gene 5335","url":"https://www.ncbi.nlm.nih.gov/gene/5335"},{"label":"Ensembl ENSG00000124181","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124181"},{"label":"Kataoka et al., Nat Genet 2015: integrated molecular analysis of 426 adult T-cell leukaemia/lymphoma cases","url":"https://doi.org/10.1038/ng.3415"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["sarcoma","rcc","non-hodgkin-lymphoma","skin-cancer","leukaemia","gastric","angiosarcoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["oncogenic-viruses","inflammation-nfkb"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Adult T-cell Leukaemia/lymphoma; Low-Grade Glioma, NOS.","Lymphoma, HTLV-1, Tax and HBZ: Human T-lymphotropic virus 1 integrates into the genome of a CD4 T cell and expresses Tax, which switches on NF-kB and interferes with the DNA-damage response and the spindle checkpoint, and HBZ, encoded on the opposite strand, which is retained when Tax expression is switched off under immune pressure. The host genome then acquires the rest of the lesions, and they are not random: the alterations found across 426 cases overlap significantly with the proteins Tax itself binds, and are concentrated in T-cell receptor and NF-kB signalling, T-cell trafficking and immune surveillance, with activating mutations in PLCG1, PRKCB, CARD11, VAV1, IRF4, FYN, CCR4 and CCR7, CTLA4-CD28 and ICOS-CD28 fusions, and intragenic deletions of IKZF2, CARD11 and TP73 (Kataoka 2015). Frequency: Across 426 adult T-cell leukaemia/lymphoma cases analysed by whole-genome, exome, transcriptome and targeted sequencing with copy-number and methylation arrays (Kataoka 2015). Most people infected with HTLV-1 never develop the disease, and the latency between infection, usually in infancy through breastfeeding, and the leukaemia is measured in decades. What it changes about treatment: The CCR4 finding is the practical one: CCR4 is both frequently expressed and frequently mutated, and mogamulizumab is used in this disease. The virus itself is not a drug target, and antiretroviral treatment does not cure the leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PLCG1","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9065","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9065","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P19174","url":"https://www.uniprot.org/uniprotkb/P19174/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PLCG1","url":"https://civicdb.org/features/4326","note":"1 evidence items, 0 assertions, 1 variants; diseases: Adult T-cell Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000124181","url":"https://platform.opentargets.org/target/ENSG00000124181/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: gastric cancer 0.50, melanoma 0.52, sarcoma 0.58, non-Hodgkin lymphoma 0.56, skin cancer 0.55, leukaemia 0.52 (GraphQL API, CC0)"},{"label":"IntOGen PLCG1","url":"https://www.intogen.org/search?gene=PLCG1","note":"driver in 4 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PLCG1: RNA low tissue specificity; blood lineage group enriched (NK-cells 3 nTPM, T-cells 6 nTPM); high antibody staining in 20 normal tissues; highest cancer staining testis cancer (12 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Renal cell carcinoma, Lymphoma, Skin cancer (all types), Leukaemia, Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P19174","url":"https://www.uniprot.org/uniprotkb/P19174/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PLCG1","url":"https://civicdb.org/features/4326","note":"1 evidence items, 0 assertions, 1 variants; diseases: Adult T-cell Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"IntOGen PLCG1","url":"https://www.intogen.org/search?gene=PLCG1","note":"driver in 4 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PLCG1 tissue","url":"https://www.proteinatlas.org/ENSG00000124181-PLCG1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000124181 associations","url":"https://platform.opentargets.org/target/ENSG00000124181/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9065","ensembl":"ENSG00000124181","uniprot":"P19174","entrez":"5335","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Burgess W.H. et al, Mol. Cell. Biol, 1990, \"Characterization and cDNA cloning of phospholipase C-gamma, a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2167438/","biology":"Mediates the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). Plays an important role in the regulation of intracellular signalling cascades. Becomes activated in response to ligand-mediated activation of receptor-type tyrosine kinases, such as PDGFRA, PDGFRB, EGFR, FGFR1, FGFR2, FGFR3 and FGFR4. Plays a role in actin reorganisation and cell migration. Guanine nucleotide exchange factor that binds the GTPase DNM1 and catalyses the dissociation of GDP, allowing a GTP molecule to bind in its place, therefore enhancing DNM1-dependent endocytosis. Location: Cell projection, lamellipodium; Cell projection, ruffle (UniProt). Locus 20q12 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.58 with sarcoma (MONDO_0005089); IntOGen driver in 1 cohort (SOFT_TISSUE)","Renal cell carcinoma: IntOGen driver in 1 cohort (RCC)","Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.52 with leukaemia (MONDO_0005059)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.50 with gastric cancer (MONDO_0001056)"],"targetClass":"oncogene","prevalence":[]},{"id":"plcg2","kind":"target","name":"PLCG2","aka":["phospholipase C gamma 2","1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2"],"tldr":"PLCG2 (1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Chronic lymphocytic leukaemia.","summary":"The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signalling.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants, naming Venetoclax.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9066","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9066"},{"label":"UniProt P16885","url":"https://www.uniprot.org/uniprotkb/P16885/entry"},{"label":"NCBI Gene 5336","url":"https://www.ncbi.nlm.nih.gov/gene/5336"},{"label":"Ensembl ENSG00000197943","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197943"},{"label":"Davis et al., Nature 2010: chronic active B-cell receptor signalling in diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/nature08638"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["cll","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","inflammation-nfkb"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, Chronic active B-cell receptor signalling, and BTK: The B-cell receptor normally signals only when it meets antigen. In activated B-cell-like lymphoma it signals continuously: the receptors cluster in the membrane and diffuse slowly, exactly as they do in an antigen-stimulated normal B cell, and knocking down IgM, Ig-kappa, CD79A, CD79B or BTK kills the cell. The signal runs CD79a/b to SYK to BTK to PLC-gamma-2 to protein kinase C beta to the CARD11-BCL10-MALT1 complex and into NF-kB. Mutations of the ITAM module of CD79B raise surface receptor expression and blunt LYN, the feedback brake (Davis 2010). Frequency: Mutations of the first ITAM tyrosine of CD79B in 18% of activated B-cell-like cases, frequent in that subtype and rare in other diffuse large B-cell lymphomas, absent from Burkitt and MALT lymphoma; activating CARD11 mutations in roughly 10% of activated B-cell-like cases (Davis 2010). What it changes about treatment: This is the one pathway in lymphoma where the biology picks the drug today. BTK inhibitors are standard in mantle cell lymphoma and Waldenstrom macroglobulinaemia and have activity in primary CNS lymphoma and in the MCD genetic subtype of diffuse large B-cell lymphoma; they do little in germinal-centre disease."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PLCG2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9066","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9066","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16885","url":"https://www.uniprot.org/uniprotkb/P16885/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PLCG2","url":"https://civicdb.org/features/4327","note":"3 evidence items, 0 assertions, 3 variants; diseases: Chronic Lymphocytic Leukaemia (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PLCG2: RNA tissue enhanced (lymphoid tissue 42 nTPM); high antibody staining in 8 normal tissues; highest cancer staining lymphoma (11 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PLCG2 tissue","url":"https://www.proteinatlas.org/ENSG00000197943-PLCG2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197943 associations","url":"https://platform.opentargets.org/target/ENSG00000197943/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9066","ensembl":"ENSG00000197943","uniprot":"P16885","entrez":"5336","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohta et al, FEBS Lett, 1988, \"Complete cDNA encoding a putative phospholipase C from transformed human lymphocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2849563/","biology":"The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signalling. Location: Membrane raft (UniProt). Locus 16q24.1 (HGNC).","whereFound":["Chronic lymphocytic leukaemia: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"plk1","kind":"target","name":"PLK1","aka":["polo like kinase 1","Serine/threonine-protein kinase PLK1"],"tldr":"PLK1 (Serine/threonine-protein kinase PLK1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Glioma & glioblastoma.","summary":"Serine/threonine-protein kinase that performs several important functions throughout M phase of the cell cycle, including the regulation of centrosome maturation and spindle assembly, the removal of cohesins from chromosome arms, the inactivation of anaphase-promoting complex/cyclosome (APC/C) inhibitors, and the regulation of mitotic exit and cytokinesis. Polo-like kinase proteins act by binding and phosphorylating proteins that are already phosphorylated on a specific motif recognised by the POLO box domains. Phosphorylates BORA, BUB1B/BUBR1, CCNB1, CDC25C, CEP55, ECT2, ERCC6L, FBXO5/EMI1, FOXM1, KIF20A/MKLP2, CENPU, NEDD1, NINL, NPM1, NUDC, PKMYT1/MYT1, KIZ, MRE11, PPP1R12A/MYPT1, POLQ, PRC1, RACGAP1/CYK4, RAD51, RHNO1, SGO1, STAG2/SA2, TEX14, TOPORS, p73/TP73, TPT1, WEE1 and HNRNPU.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9077","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9077"},{"label":"UniProt P53350","url":"https://www.uniprot.org/uniprotkb/P53350/entry"},{"label":"NCBI Gene 5347","url":"https://www.ncbi.nlm.nih.gov/gene/5347"},{"label":"Ensembl ENSG00000166851","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166851"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["mitotic-spindle-checkpoint","myc"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PLK1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9077","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9077","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P53350","url":"https://www.uniprot.org/uniprotkb/P53350/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PLK1","url":"https://civicdb.org/features/4337","note":"1 evidence items, 0 assertions, 1 variants; diseases: Glioblastoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists PLK1 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PLK1: RNA tissue enhanced (bone marrow 30 nTPM, lymphoid tissue 41 nTPM, testis 32 nTPM); blood lineage lineage enriched (T-cells 6 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PLK1 tissue","url":"https://www.proteinatlas.org/ENSG00000166851-PLK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000166851 associations","url":"https://platform.opentargets.org/target/ENSG00000166851/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9077","ensembl":"ENSG00000166851","uniprot":"P53350","entrez":"5347","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lake R.J. et al, Mol. Cell. Biol, 1993, \"Cell cycle- and terminal differentiation-associated regulation of the mouse mRNA encoding a conserved mitotic protein kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7902533/","biology":"Serine/threonine-protein kinase that performs several important functions throughout M phase of the cell cycle, including the regulation of centrosome maturation and spindle assembly, the removal of cohesins from chromosome arms, the inactivation of anaphase-promoting complex/cyclosome (APC/C) inhibitors, and the regulation of mitotic exit and cytokinesis. Polo-like kinase proteins act by binding and phosphorylating proteins that are already phosphorylated on a specific motif recognised by the POLO box domains. Phosphorylates BORA, BUB1B/BUBR1, CCNB1, CDC25C, CEP55, ECT2, ERCC6L, FBXO5/EMI1, FOXM1, KIF20A/MKLP2, CENPU, NEDD1, NINL, NPM1, NUDC, PKMYT1/MYT1, KIZ, MRE11, PPP1R12A/MYPT1, POLQ, PRC1, RACGAP1/CYK4, RAD51, RHNO1, SGO1, STAG2/SA2, TEX14, TOPORS, p73/TP73, TPT1, WEE1 and HNRNPU. Plays a key role in centrosome functions and the assembly of bipolar spindles by phosphorylating KIZ, NEDD1 and NINL. NEDD1 phosphorylation promotes subsequent targeting of the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation. Phosphorylation of NINL component of the centrosome leads to NINL dissociation from other centrosomal proteins. Location: Nucleus; Chromosome, centromere, kinetochore; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, spindle (UniProt). Locus 16p12.2 (HGNC).","whereFound":["Glioma & glioblastoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"plxnb2","kind":"target","name":"PLXNB2","aka":["plexin B2","Plexin-B2","MM1","KIAA0315","PLEXB2","lncFAL"],"tldr":"PLXNB2 (Plexin-B2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Cell surface receptor for SEMA4C, SEMA4D and SEMA4G that plays an important role in cell-cell signalling. Plays a role in glutamatergic synapse development and is required for SEMA4A-mediated excitatory synapse development. Binding to class 4 semaphorins promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.93, animal model 0.55, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9104","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9104"},{"label":"UniProt O15031","url":"https://www.uniprot.org/uniprotkb/O15031/entry"},{"label":"NCBI Gene 23654","url":"https://www.ncbi.nlm.nih.gov/gene/23654"},{"label":"Ensembl ENSG00000196576","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196576"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PLXNB2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9104","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9104","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15031","url":"https://www.uniprot.org/uniprotkb/O15031/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196576","url":"https://platform.opentargets.org/target/ENSG00000196576/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9104","ensembl":"ENSG00000196576","uniprot":"O15031","entrez":"23654","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9205841/","biology":"Cell surface receptor for SEMA4C, SEMA4D and SEMA4G that plays an important role in cell-cell signalling. Plays a role in glutamatergic synapse development and is required for SEMA4A-mediated excitatory synapse development. Binding to class 4 semaphorins promotes downstream activation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'. Also acts as a cell surface receptor for angiogenin (ANG); promoting ANG endocytosis and translocation to the cytoplasm or nucleus. Required for normal differentiation and migration of neuronal cells during brain corticogenesis and for normal embryonic brain development. Regulates the migration of cerebellar granule cells in the developing brain. Location: Cell membrane (UniProt). Locus 22q13.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"plxnc1","kind":"target","name":"PLXNC1","aka":["plexin C1","Plexin-C1","VESPR","CD232"],"tldr":"PLXNC1 (Plexin-C1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Melanoma.","summary":"Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9106"},{"label":"UniProt O60486","url":"https://www.uniprot.org/uniprotkb/O60486/entry"},{"label":"NCBI Gene 10154","url":"https://www.ncbi.nlm.nih.gov/gene/10154"},{"label":"Ensembl ENSG00000136040","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136040"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PLXNC1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9106","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60486","url":"https://www.uniprot.org/uniprotkb/O60486/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PLXNC1","url":"https://www.intogen.org/search?gene=PLXNC1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9106","ensembl":"ENSG00000136040","uniprot":"O60486","entrez":"10154","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Comeau M.R. et al, Immunity, 1998, \"A poxvirus-encoded semaphorin induces cytokine production from monocytes and binds to a novel cellular semaphorin receptor, VESPR\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9586637/","biology":"Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8. Location: Membrane (UniProt). Locus 12q22 (HGNC).","whereFound":["Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"pml","kind":"target","name":"PML","aka":["PML nuclear body scaffold","TRIM19","RNF71"],"tldr":"PML (PML nuclear body scaffold) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor, a biomarker and a fusion partner, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Thyroid cancer, Lung cancer and 3 more.","summary":"Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumour suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. Acts as the scaffold of PML-NBs allowing other proteins to shuttle in and out, a process which is regulated by SUMO-mediated modifications and interactions. Inhibits EIF4E-mediated mRNA nuclear export by reducing EIF4E affinity for the 5' 7-methylguanosine (m7G) cap of target mRNAs.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 6 variants, naming Tretinoin, Arsenic Trioxide and Tamibarotene. Open Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.87, genetic association 0.63, somatic mutation 0.80). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung. In OnCo, 2 product records name it (Arsenic trioxide and Tretinoin (all-trans retinoic acid, ATRA)).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9113","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113"},{"label":"UniProt P29590","url":"https://www.uniprot.org/uniprotkb/P29590/entry"},{"label":"NCBI Gene 5371","url":"https://www.ncbi.nlm.nih.gov/gene/5371"},{"label":"Ensembl ENSG00000140464","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140464"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","thyroid","lung-cancer","skin-cancer","myeloproliferative-neoplasms","apl"],"sections":[],"technologies":[],"targets":[],"drugs":["arsenic-trioxide","tretinoin-atra"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 7 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PML","role":["drug-target","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9113","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9113","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29590","url":"https://www.uniprot.org/uniprotkb/P29590/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PML","url":"https://civicdb.org/features/39","note":"7 evidence items, 0 assertions, 6 variants; diseases: Acute Promyelocytic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000140464","url":"https://platform.opentargets.org/target/ENSG00000140464/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: thyroid cancer 0.57, skin cancer 0.53, myeloproliferative neoplasm 0.52, leukaemia 0.58 (GraphQL API, CC0)"},{"label":"IntOGen PML","url":"https://www.intogen.org/search?gene=PML","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Arsenic trioxide, Tretinoin (all-trans retinoic acid, ATRA)) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA PML: RNA low tissue specificity; high antibody staining in 25 normal tissues; highest cancer staining head and neck cancer (3 of 3 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Thyroid cancer, Lung cancer (all types), Skin cancer (all types), Myeloid neoplasms); Open Targets associates it with 2 specific cancer types at or above 0.5 (thyroid gland carcinoma, uterine corpus leiomyoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PML tissue","url":"https://www.proteinatlas.org/ENSG00000140464-PML/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000140464 associations","url":"https://platform.opentargets.org/target/ENSG00000140464/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9113","ensembl":"ENSG00000140464","uniprot":"P29590","entrez":"5371","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: de The et al, Cell, 1991, \"The PML-RAR alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1652369/","biology":"Functions via its association with PML-nuclear bodies (PML-NBs) in a wide range of important cellular processes, including tumour suppression, transcriptional regulation, apoptosis, senescence, DNA damage response, and viral defense mechanisms. Acts as the scaffold of PML-NBs allowing other proteins to shuttle in and out, a process which is regulated by SUMO-mediated modifications and interactions. Inhibits EIF4E-mediated mRNA nuclear export by reducing EIF4E affinity for the 5' 7-methylguanosine (m7G) cap of target mRNAs. Isoform PML-4 has a multifaceted role in the regulation of apoptosis and growth suppression: activates RB1 and inhibits AKT1 via interactions with PP1 and PP2A phosphatases respectively, negatively affects the PI3K pathway by inhibiting MTOR and activating PTEN, and positively regulates p53/TP53 by acting at different levels (by promoting its acetylation and phosphorylation and by inhibiting its MDM2-dependent degradation). Isoform PML-4 also: acts as a transcriptional repressor of TBX2 during cellular senescence and the repression is dependent on a functional RBL2/E2F4 repressor complex, regulates double-strand break repair in gamma-irradiation-induced DNA damage responses via its interaction with WRN, acts as a negative regulator of telomerase by interacting with TERT, and regulates PER2 nuclear localisation and circadian function. Isoform PML-6 inhibits specifically the activity of the tetrameric form of PKM. Location: Nucleus; Nucleus, nucleoplasm; Cytoplasm; Nucleus, PML body (UniProt). Locus 15q24.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.58 with leukaemia (MONDO_0005059)","Thyroid cancer: Open Targets association 0.57 with thyroid cancer (MONDO_0002108)","Lung cancer: IntOGen driver in 1 cohort (LUNG)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Myeloproliferative neoplasms: Open Targets association 0.52 with myeloproliferative neoplasm (MONDO_0020076)","Acute promyelocytic leukaemia: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"pms1","kind":"target","name":"PMS1","aka":["PMS1 homolog 1, mismatch repair system component","PMS1 protein homolog 1","MLH2","PMSL1"],"tldr":"PMS1 (PMS1 protein homolog 1) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Probably involved in the repair of mismatches in DNA.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.38, genetic association 0.76, somatic mutation 0.50, genetic literature 0.01).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9121","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9121"},{"label":"UniProt P54277","url":"https://www.uniprot.org/uniprotkb/P54277/entry"},{"label":"NCBI Gene 5378","url":"https://www.ncbi.nlm.nih.gov/gene/5378"},{"label":"Ensembl ENSG00000064933","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000064933"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PMS1","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9121","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9121","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54277","url":"https://www.uniprot.org/uniprotkb/P54277/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000064933","url":"https://platform.opentargets.org/target/ENSG00000064933/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: colorectal cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9121","ensembl":"ENSG00000064933","uniprot":"P54277","entrez":"5378","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nicolaides N.C. et al, Nature, 1994, \"Mutations of two PMS homologues in hereditary nonpolyposis colon cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8072530/","biology":"Probably involved in the repair of mismatches in DNA. Location: Nucleus (UniProt). Locus 2q32.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"pms2","kind":"target","name":"PMS2","aka":["PMS1 homolog 2, mismatch repair system component","Mismatch repair endonuclease PMS2","H_DJ0042M02.9","HNPCC4","MLH4","PMS-2","PMSL2"],"tldr":"PMS2 (Mismatch repair endonuclease PMS2) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Endometrial cancer, Ovarian cancer and 5 more.","summary":"Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerises with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants, naming Nivolumab. Open Targets scores its association with cancer at 0.89 (direct and indirect evidence; datatypes genetic literature 0.86, affected pathway 0.61, literature 0.96, genetic association 0.94, somatic mutation 0.90). IntOGen calls it a driver in 1 cohort (0 activating, 0 loss-of-function), covering Hepatocellular Carcinoma. In OnCo, 1 product record names it (VENTANA MMR RxDx Panel).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9122","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9122"},{"label":"UniProt P54278","url":"https://www.uniprot.org/uniprotkb/P54278/entry"},{"label":"NCBI Gene 5395","url":"https://www.ncbi.nlm.nih.gov/gene/5395"},{"label":"Ensembl ENSG00000122512","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122512"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","endometrial","ovarian","breast-cancer","gastric","hcc","non-hodgkin-lymphoma","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":["ventana-mmr-rxdx"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PMS2","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9122","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9122","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54278","url":"https://www.uniprot.org/uniprotkb/P54278/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PMS2","url":"https://civicdb.org/features/4371","note":"3 evidence items, 0 assertions, 3 variants; diseases: Glioblastoma, Endometrial Cancer, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000122512","url":"https://platform.opentargets.org/target/ENSG00000122512/associations","note":"association with cancer (MONDO_0004992) 0.89; per-cancer scores at or above 0.5: colorectal cancer 0.88, gastric cancer 0.62, ovarian cancer 0.66, endometrial cancer 0.67, melanoma 0.52, sarcoma 0.51 (GraphQL API, CC0)"},{"label":"IntOGen PMS2","url":"https://www.intogen.org/search?gene=PMS2","note":"driver in 1 cohort (Act 0, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Lynch syndrome 4 (LYNCH4) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA PMS2: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining glioma (3 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Endometrial cancer, Ovarian cancer, Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Hepatocellular carcinoma, Lymphoma and more); Open Targets associates it with 12 specific cancer types at or above 0.5 (Lynch syndrome, mismatch repair cancer syndrome, mismatch repair cancer syndrome 1, endometrial carcinoma, Non-polyposis Turcot syndrome, hereditary neoplastic syndrome and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P54278","url":"https://www.uniprot.org/uniprotkb/P54278/entry","note":"involvement in disease"},{"label":"Human Protein Atlas PMS2 tissue","url":"https://www.proteinatlas.org/ENSG00000122512-PMS2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000122512 associations","url":"https://platform.opentargets.org/target/ENSG00000122512/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9122","ensembl":"ENSG00000122512","uniprot":"P54278","entrez":"5395","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nicolaides N.C. et al, Nature, 1994, \"Mutations of two PMS homologues in hereditary nonpolyposis colon cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8072530/","biology":"Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerises with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. Location: Nucleus (UniProt). Locus 7p22.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.88 with colorectal cancer (MONDO_0005575)","Endometrial cancer: Open Targets association 0.67 with endometrial cancer (MONDO_0011962); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.66 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.66 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.62 with gastric cancer (MONDO_0001056)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)"],"targetClass":"enzyme","prevalence":[]},{"id":"pnmt","kind":"target","name":"PNMT","aka":["phenylethanolamine N-methyltransferase","PENT"],"tldr":"PNMT makes adrenaline from noradrenaline in the adrenal gland; in breast cancer it matters only because it lies inside the HER2 amplicon.","summary":"17q12 HER2 amplicon neighbour: co-amplified and co-expressed with ERBB2 in HER2-positive breast and gastric cancer, so it appears in HER2-enriched expression signatures as a passenger of the amplification rather than a driver of its own. UniProt describes PNMT as the enzyme that converts noradrenaline to adrenaline; its expression in HER2-positive tumours reflects gene dosage, not adrenal biology.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:9160","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9160"},{"label":"UniProt P11086","url":"https://www.uniprot.org/uniprotkb/P11086/entry"}],"tags":["cansim-terms"],"related":["her2"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["co-amplification","cancer-ai-vocabulary"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"PNMT","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9160","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9160","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt P11086","url":"https://www.uniprot.org/uniprotkb/P11086/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:9160","ensembl":"ENSG00000141744","uniprot":"P11086","entrez":"5409","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kaneda et al, J. Biol. Chem, 1988, \"Molecular cloning of cDNA and chromosomal assignment of the gene for human phenylethanolamine N-methyltransferase, the enzyme for epinephrine biosynthesis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3372503/","biology":"Catalyses the transmethylation of noradrenaline to adrenaline using S-adenosyl-L-methionine (UniProt P11086).","whereFound":["Locus 17q12 (HGNC)."],"targetClass":"enzyme","prevalence":[]},{"id":"pnpla3","kind":"target","name":"PNPLA3","aka":["patatin like domain 3, 1-acylglycerol-3-phosphate O-acyltransferase ","1-acylglycerol-3-phosphate O-acyltransferase PNPLA3","dJ796I17.1","FLJ22012","adiponutrin","iPLA2epsilon","C22orf20"],"tldr":"PNPLA3 (1-acylglycerol-3-phosphate O-acyltransferase PNPLA3) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Hepatocellular carcinoma.","summary":"Specifically catalyses coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18590"},{"label":"UniProt Q9NST1","url":"https://www.uniprot.org/uniprotkb/Q9NST1/entry"},{"label":"NCBI Gene 80339","url":"https://www.ncbi.nlm.nih.gov/gene/80339"},{"label":"Ensembl ENSG00000100344","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100344"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PNPLA3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18590","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NST1","url":"https://www.uniprot.org/uniprotkb/Q9NST1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100344","url":"https://platform.opentargets.org/target/ENSG00000100344/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: hepatocellular carcinoma 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:18590","ensembl":"ENSG00000100344","uniprot":"Q9NST1","entrez":"80339","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dunham et al, Nature, 1999, \"The DNA sequence of human chromosome 22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10591208/","biology":"Specifically catalyses coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA. Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides. In vitro may express hydrolytic activity against glycerolipids triacylglycerol, diacylglycerol and monoacylglycerol, with a strong preference for oleic acid as the acyl moiety. However, the triacylglycerol hydrolase activity is controversial and may be very low. Location: Membrane; Lipid droplet (UniProt). Locus 22q13.31 (HGNC).","whereFound":["Hepatocellular carcinoma: Open Targets association 0.52 with hepatocellular carcinoma (MONDO_0007256)"],"targetClass":"enzyme","prevalence":[]},{"id":"poglut3","kind":"target","name":"POGLUT3","aka":["protein O-glucosyltransferase 3","Protein O-glucosyltransferase 3","MGC33424","KDELC2"],"tldr":"POGLUT3 (Protein O-glucosyltransferase 3) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Protein glucosyltransferase that catalyses the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C. Can also catalyse the transfer of xylose from UDP-xylose but less efficiently. Specifically targets extracellular EGF repeats of proteins such as NOTCH1, NOTCH3, FBN1, FBN2 and LTBP1.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.85, genetic association 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28496","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28496"},{"label":"UniProt Q7Z4H8","url":"https://www.uniprot.org/uniprotkb/Q7Z4H8/entry"},{"label":"NCBI Gene 143888","url":"https://www.ncbi.nlm.nih.gov/gene/143888"},{"label":"Ensembl ENSG00000178202","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178202"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POGLUT3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:28496","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28496","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z4H8","url":"https://www.uniprot.org/uniprotkb/Q7Z4H8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000178202","url":"https://platform.opentargets.org/target/ENSG00000178202/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: prostate cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:28496","ensembl":"ENSG00000178202","uniprot":"Q7Z4H8","entrez":"143888","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ding et al, 2002.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q7Z4H8/entry","biology":"Protein glucosyltransferase that catalyses the transfer of glucose from UDP-glucose to a serine residue within the consensus sequence peptide C-X-N-T-X-G-S-F-X-C. Can also catalyse the transfer of xylose from UDP-xylose but less efficiently. Specifically targets extracellular EGF repeats of proteins such as NOTCH1, NOTCH3, FBN1, FBN2 and LTBP1. May regulate the transport of NOTCH1 and NOTCH3 to the plasma membrane and thereby the Notch signalling pathway. Location: Endoplasmic reticulum lumen (UniProt). Locus 11q22.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"pola2","kind":"target","name":"POLA2","aka":["DNA polymerase alpha 2, accessory subunit","DNA polymerase alpha subunit B","FLJ21662"],"tldr":"POLA2 (DNA polymerase alpha subunit B) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 5 more.","summary":"Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.85, affected pathway 0.61, genetic association 0.06, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30073","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30073"},{"label":"UniProt Q14181","url":"https://www.uniprot.org/uniprotkb/Q14181/entry"},{"label":"NCBI Gene 23649","url":"https://www.ncbi.nlm.nih.gov/gene/23649"},{"label":"Ensembl ENSG00000014138","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000014138"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","lung-cancer","myeloproliferative-neoplasms","breast-cancer","ovarian","mds","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLA2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:30073","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30073","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14181","url":"https://www.uniprot.org/uniprotkb/Q14181/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000014138","url":"https://platform.opentargets.org/target/ENSG00000014138/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, ovarian cancer 0.58, acute myeloid leukaemia 0.59, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.60 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists POLA2 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA POLA2: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining melanoma (4 of 11 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Lung cancer (all types), Myeloid neoplasms, Breast cancer (all types), Ovarian cancer); Open Targets associates it with 10 specific cancer types at or above 0.5 (non-small cell lung carcinoma, acute lymphoblastic leukemia, acute myeloid leukemia, B-cell chronic lymphocytic leukemia, exocrine pancreatic carcinoma, ovarian carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas POLA2 tissue","url":"https://www.proteinatlas.org/ENSG00000014138-POLA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000014138 associations","url":"https://platform.opentargets.org/target/ENSG00000014138/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:30073","ensembl":"ENSG00000014138","uniprot":"Q14181","entrez":"23649","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Collins K.L. et al, EMBO J, 1993, \"The role of the 70 kDa subunit of human DNA polymerase alpha in DNA replication\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8223465/","biology":"Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. Location: Nucleus (UniProt). Locus 11q13.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)"],"targetClass":"other","prevalence":[]},{"id":"pold1","kind":"target","name":"POLD1","aka":["DNA polymerase delta 1, catalytic subunit","DNA polymerase delta catalytic subunit","CDC2"],"tldr":"POLD1 (DNA polymerase delta catalytic subunit) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor, a biomarker and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Colorectal cancer, Lung cancer, Breast cancer and 5 more.","summary":"As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities. Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity.\n\nCIViC holds 7 clinical evidence items and 0 assertions across 4 variants, naming Pembrolizumab, ATR Inhibitor and Chk1 Inhibitor. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.83, clinical 0.99, literature 0.97, genetic association 0.72, somatic mutation 0.86). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9175","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9175"},{"label":"UniProt P28340","url":"https://www.uniprot.org/uniprotkb/P28340/entry"},{"label":"NCBI Gene 5424","url":"https://www.ncbi.nlm.nih.gov/gene/5424"},{"label":"Ensembl ENSG00000062822","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000062822"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","lung-cancer","breast-cancer","leukaemia","non-hodgkin-lymphoma","ovarian","myeloproliferative-neoplasms","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["pole-ultramutation","hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-palles-germline-pole-pold1-proofreading-nat-genet-2013"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 7 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: the rarer twin of POLE. Germline p.Ser478Asn predisposes to multiple adenomas, colorectal cancer and endometrial cancer (Palles 2013); somatic exonuclease-domain hotspots appear in about 0.03% of sequenced tumours (2 of 7,237 in crc_msk_2026), against 5.1% for any POLD1 mutation, most of which are passengers in hypermutated tumours."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLD1","role":["drug-target","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9175","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9175","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P28340","url":"https://www.uniprot.org/uniprotkb/P28340/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POLD1","url":"https://civicdb.org/features/4384","note":"7 evidence items, 0 assertions, 4 variants; diseases: Colorectal Cancer, Lung Adenocarcinoma, Pancreatic Cancer, Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000062822","url":"https://platform.opentargets.org/target/ENSG00000062822/associations","note":"association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.71, colorectal cancer 0.76, urinary bladder cancer 0.51, ovarian cancer 0.69, endometrial cancer 0.60, melanoma 0.57 (GraphQL API, CC0)"},{"label":"IntOGen POLD1","url":"https://www.intogen.org/search?gene=POLD1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Colorectal cancer 10 (CRCS10) under involvement in disease, and the record is a tumour suppressor; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA POLD1: RNA low tissue specificity; high antibody staining in 24 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types), Breast cancer (all types), Leukaemia, Lymphoma, Ovarian cancer, Myeloid neoplasms and more); Open Targets associates it with 13 specific cancer types at or above 0.5 (non-small cell lung carcinoma, acute lymphoblastic leukemia, colorectal cancer, acute myeloid leukemia, B-cell chronic lymphocytic leukemia, colorectal cancer, susceptibility to, 10 and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P28340","url":"https://www.uniprot.org/uniprotkb/P28340/entry","note":"involvement in disease"},{"label":"Human Protein Atlas POLD1 tissue","url":"https://www.proteinatlas.org/ENSG00000062822-POLD1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000062822 associations","url":"https://platform.opentargets.org/target/ENSG00000062822/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9175","ensembl":"ENSG00000062822","uniprot":"P28340","entrez":"5424","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chung D.W. et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Primary structure of the catalytic subunit of human DNA polymerase delta and chromosomal location of the gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1722322/","biology":"As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities. Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity. Depending upon the absence (Pol-delta3) or the presence of POLD4 (Pol-delta4), displays differences in catalytic activity. Most notably, expresses higher proofreading activity in the context of Pol-delta3 compared with that of Pol-delta4. Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Location: Nucleus (UniProt). Locus 19q13.33 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.76 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Lung cancer: Open Targets association 0.73 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.73 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Leukaemia: Open Targets association 0.71 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.71 with non-Hodgkin lymphoma (MONDO_0018908)","Ovarian cancer: Open Targets association 0.69 with ovarian cancer (MONDO_0008170)","Colorectal cancer: exonuclease domain hotspot mutation; germline p.ser478asn 0.03%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"colorectal","pct":"0.03","measure":"Exonuclease domain hotspot mutation; germline p.Ser478Asn","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal, exonuclease hotspots: 2 of 7,237 in crc_msk_2026 and 1 of 619 in coadread_dfci_2016; any POLD1 mutation reads 366 of 7,237, 5.1%, in crc_msk_2026, almost all passengers in hypermutated tumours. Germline POLD1 p.Ser478Asn and POLE p.Leu424Val were identified as high-penetrance predisposition variants in families with multiple adenomas and early-onset colorectal cancer, with POLD1 also predisposing to endometrial cancer (Palles 2013)."}]},{"id":"pold2","kind":"target","name":"POLD2","aka":["DNA polymerase delta 2, accessory subunit","DNA polymerase delta subunit 2"],"tldr":"POLD2 (DNA polymerase delta subunit 2) is a gene. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 5 more.","summary":"Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex. As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Pol-delta3 and Pol-delta4 are characterised by the absence or the presence of POLD4.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.73, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9176","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9176"},{"label":"UniProt P49005","url":"https://www.uniprot.org/uniprotkb/P49005/entry"},{"label":"NCBI Gene 5425","url":"https://www.ncbi.nlm.nih.gov/gene/5425"},{"label":"Ensembl ENSG00000106628","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106628"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","lung-cancer","myeloproliferative-neoplasms","breast-cancer","ovarian","mds","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLD2","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9176","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9176","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49005","url":"https://www.uniprot.org/uniprotkb/P49005/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000106628","url":"https://platform.opentargets.org/target/ENSG00000106628/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, ovarian cancer 0.58, acute myeloid leukaemia 0.59, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.60 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists POLD2 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA POLD2: RNA low tissue specificity; high antibody staining in 23 normal tissues; highest cancer staining stomach cancer (6 of 10 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Lung cancer (all types), Myeloid neoplasms, Breast cancer (all types), Ovarian cancer); Open Targets associates it with 10 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, acute myeloid leukemia, non-small cell lung carcinoma, B-cell chronic lymphocytic leukemia, exocrine pancreatic carcinoma, ovarian carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas POLD2 tissue","url":"https://www.proteinatlas.org/ENSG00000106628-POLD2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106628 associations","url":"https://platform.opentargets.org/target/ENSG00000106628/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9176","ensembl":"ENSG00000106628","uniprot":"P49005","entrez":"5425","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, Genomics, 1995, \"Cloning of the cDNAs for the small subunits of bovine and human DNA polymerase delta and chromosomal location of the human gene (POLD2)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8530069/","biology":"Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex. As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Pol-delta3 and Pol-delta4 are characterised by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4. Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Location: Nucleus (UniProt). Locus 7p13 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)"],"targetClass":"other","prevalence":[]},{"id":"pold3","kind":"target","name":"POLD3","aka":["DNA polymerase delta 3, accessory subunit","DNA polymerase delta subunit 3","P66","KIAA0039","P68","PPP1R128"],"tldr":"POLD3 (DNA polymerase delta subunit 3) is a gene. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 5 more.","summary":"Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex. As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Required for optimal Pol-delta activity.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.43, genetic association 0.49, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20932","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20932"},{"label":"UniProt Q15054","url":"https://www.uniprot.org/uniprotkb/Q15054/entry"},{"label":"NCBI Gene 10714","url":"https://www.ncbi.nlm.nih.gov/gene/10714"},{"label":"Ensembl ENSG00000077514","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077514"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","lung-cancer","myeloproliferative-neoplasms","breast-cancer","ovarian","mds","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLD3","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20932","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20932","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15054","url":"https://www.uniprot.org/uniprotkb/Q15054/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000077514","url":"https://platform.opentargets.org/target/ENSG00000077514/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.59, ovarian cancer 0.58, acute myeloid leukaemia 0.59, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.60 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists POLD3 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA POLD3: RNA low tissue specificity; high antibody staining in 16 normal tissues; highest cancer staining colorectal cancer (9 of 10 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Lung cancer (all types), Myeloid neoplasms, Breast cancer (all types), Ovarian cancer); Open Targets associates it with 10 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, non-small cell lung carcinoma, acute myeloid leukemia, B-cell chronic lymphocytic leukemia, exocrine pancreatic carcinoma, ovarian carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas POLD3 tissue","url":"https://www.proteinatlas.org/ENSG00000077514-POLD3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000077514 associations","url":"https://platform.opentargets.org/target/ENSG00000077514/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20932","ensembl":"ENSG00000077514","uniprot":"Q15054","entrez":"10714","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584026/","biology":"Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex. As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Required for optimal Pol-delta activity. Stabilises the Pol-delta complex and plays a major role in Pol-delta stimulation by PCNA. Pol-delta3 and Pol-delta4 are characterised by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Location: Cytoplasm; Nucleus (UniProt). Locus 11q13.4 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.59 with lung cancer (MONDO_0008903)","Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)"],"targetClass":"other","prevalence":[]},{"id":"pold4","kind":"target","name":"POLD4","aka":["DNA polymerase delta 4, accessory subunit","DNA polymerase delta subunit 4","p12","POLDS"],"tldr":"POLD4 (DNA polymerase delta subunit 4) is a gene. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 5 more.","summary":"As a component of the tetrameric DNA polymerase delta complex (Pol-delta4), plays a role in high fidelity genome replication and repair. Within this complex, increases the rate of DNA synthesis and decreases fidelity by regulating POLD1 polymerase and proofreading 3' to 5' exonuclease activity. Pol-delta4 participates in Okazaki fragment processing, through both the short flap pathway, as well as a nick translation system.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14106"},{"label":"UniProt Q9HCU8","url":"https://www.uniprot.org/uniprotkb/Q9HCU8/entry"},{"label":"NCBI Gene 57804","url":"https://www.ncbi.nlm.nih.gov/gene/57804"},{"label":"Ensembl ENSG00000175482","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175482"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","lung-cancer","myeloproliferative-neoplasms","breast-cancer","ovarian","mds","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLD4","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:14106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14106","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HCU8","url":"https://www.uniprot.org/uniprotkb/Q9HCU8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000175482","url":"https://platform.opentargets.org/target/ENSG00000175482/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.59, ovarian cancer 0.58, acute myeloid leukaemia 0.59, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.60 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, dna-repair; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA POLD4: RNA tissue enhanced (liver 198 nTPM); no normal tissue stained high. Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Lung cancer (all types), Myeloid neoplasms, Breast cancer (all types), Ovarian cancer); Open Targets associates it with 10 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, non-small cell lung carcinoma, B-cell chronic lymphocytic leukemia, acute myeloid leukemia, exocrine pancreatic carcinoma, ovarian carcinoma and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas POLD4 tissue","url":"https://www.proteinatlas.org/ENSG00000175482-POLD4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000175482 associations","url":"https://platform.opentargets.org/target/ENSG00000175482/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14106","ensembl":"ENSG00000175482","uniprot":"Q9HCU8","entrez":"57804","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Liu et al, J. Biol. Chem, 2000, \"Identification of a fourth subunit of mammalian DNA polymerase delta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10751307/","biology":"As a component of the tetrameric DNA polymerase delta complex (Pol-delta4), plays a role in high fidelity genome replication and repair. Within this complex, increases the rate of DNA synthesis and decreases fidelity by regulating POLD1 polymerase and proofreading 3' to 5' exonuclease activity. Pol-delta4 participates in Okazaki fragment processing, through both the short flap pathway, as well as a nick translation system. Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR), a mechanism that may induce segmental genomic duplications of up to 200 kb. Involved in Pol-delta4 translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites. Its degradation in response to DNA damage is required for the inhibition of fork progression and cell survival. Location: Nucleus (UniProt). Locus 11q13.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)"],"targetClass":"other","prevalence":[]},{"id":"pole","kind":"target","name":"POLE","aka":["DNA polymerase epsilon, catalytic subunit","DNA polymerase epsilon catalytic subunit A","POLE1"],"tldr":"POLE (DNA polymerase epsilon catalytic subunit A) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Colorectal cancer, Ovarian cancer, Lung cancer and 5 more.","summary":"Catalytic component of the DNA polymerase epsilon complex. Participates in chromosomal DNA replication. Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork.\n\nCIViC holds 14 clinical evidence items and 0 assertions across 8 variants, naming Pembrolizumab. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.78, clinical 0.99, affected pathway 0.76, literature 0.98, genetic association 0.82, somatic mutation 0.80). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Adrenocortical Carcinoma, Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9177","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9177"},{"label":"UniProt Q07864","url":"https://www.uniprot.org/uniprotkb/Q07864/entry"},{"label":"NCBI Gene 5426","url":"https://www.ncbi.nlm.nih.gov/gene/5426"},{"label":"Ensembl ENSG00000177084","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177084"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","ovarian","lung-cancer","breast-cancer","non-hodgkin-lymphoma","leukaemia","myeloproliferative-neoplasms","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["pole-ultramutation","tmb","mss-pmmr"],"trials":["rainbo"],"people":[],"bottlenecks":[],"keyPapers":["paper-domingo-somatic-pole-proofreading-colorectal-lancet-gastro-2016"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; IntOGen calls it an activating (Act) driver in 2 cohorts; CIViC holds 14 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Endometrial Adenocarcinoma; High Grade Glioma.","Colorectal cancer: exonuclease-domain hotspot mutations in 0.7 to 2% of tumours, 1.0% of 6,517 in the largest pooled series (Domingo 2016). These are the ultramutated cases, median 172 mutations per megabase against 5.7 in microsatellite-stable disease (cBioPortal crc_msk_2026), and they are microsatellite stable, so neither a mismatch repair immunohistochemistry panel nor an MSI assay finds them. They are mutually exclusive with mismatch repair deficiency, occur in younger patients, carry CD8 infiltration as high as MSI-high tumours and have an excellent prognosis (recurrence hazard ratio 0.34). Germline POLE p.Leu424Val is a high-penetrance polyposis and colorectal cancer predisposition variant (Palles 2013). Case series report checkpoint inhibitor responses, but there is no colorectal approval on a POLE result alone."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLE","role":["drug-target","oncogene-driver","biomarker","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9177","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9177","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q07864","url":"https://www.uniprot.org/uniprotkb/Q07864/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POLE","url":"https://civicdb.org/features/4386","note":"14 evidence items, 0 assertions, 8 variants; diseases: Colorectal Cancer, Endometrial Cancer, Glioblastoma, Endometrial Adenocarcinoma, High Grade Glioma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000177084","url":"https://platform.opentargets.org/target/ENSG00000177084/associations","note":"association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.70, colorectal cancer 0.77, gastric cancer 0.53, urinary bladder cancer 0.52, ovarian cancer 0.75, endometrial cancer 0.62 (GraphQL API, CC0)"},{"label":"IntOGen POLE","url":"https://www.intogen.org/search?gene=POLE","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA POLE: RNA tissue enhanced (bone marrow 21 nTPM); no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Ovarian cancer, Lung cancer (all types), Breast cancer (all types), Lymphoma, Leukaemia, Myeloid neoplasms and more); Open Targets associates it with 16 specific cancer types at or above 0.5 (colorectal cancer, susceptibility to, 12, non-small cell lung carcinoma, B-cell chronic lymphocytic leukemia, acute myeloid leukemia, exocrine pancreatic carcinoma, acute lymphoblastic leukemia and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q07864","url":"https://www.uniprot.org/uniprotkb/Q07864/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POLE","url":"https://civicdb.org/features/4386","note":"14 evidence items, 0 assertions, 8 variants; diseases: Colorectal Cancer, Endometrial Cancer, Glioblastoma, Endometrial Adenocarcinoma, High Grade Glioma (GraphQL API, CC0)"},{"label":"IntOGen POLE","url":"https://www.intogen.org/search?gene=POLE","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas POLE tissue","url":"https://www.proteinatlas.org/ENSG00000177084-POLE/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000177084 associations","url":"https://platform.opentargets.org/target/ENSG00000177084/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9177","ensembl":"ENSG00000177084","uniprot":"Q07864","entrez":"5426","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kesti et al, J. Biol. Chem, 1993, \"Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8486689/","biology":"Catalytic component of the DNA polymerase epsilon complex. Participates in chromosomal DNA replication. Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork. Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication. Involved in DNA synthesis during DNA repair. Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) synthesis following UV irradiation. Location: Nucleus (UniProt). Locus 12q24.33 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.77 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.75 with ovarian cancer (MONDO_0008170)","Lung cancer: Open Targets association 0.73 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.71 with breast cancer (MONDO_0007254)","Non-Hodgkin lymphoma: Open Targets association 0.71 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.71 with leukaemia (MONDO_0005059)","Colorectal cancer: exonuclease (proofreading) domain hotspot mutation, ultramutated tumours 0.7-2%"],"targetClass":"oncogene","prevalence":[{"cancerId":"colorectal","pct":"0.7-2","measure":"Exonuclease (proofreading) domain hotspot mutation, ultramutated tumours","source":"https://doi.org/10.1016/S2468-1253(16)30014-0","note":"Pathogenic somatic POLE mutations in 66 of 6,517 colorectal cancers, 1.0%, across nine trials and cohorts (Domingo 2016). cBioPortal, counting only exonuclease hotspots (P286R, V411L, S297F, S459F and their neighbours): 52 of 7,237, 0.7%, in crc_msk_2026; 8 of 1,134 in crc_msk_2017; 11 of 534, 2.1%, in coadread_tcga_pan_can_atlas_2018; 6 of 224 in coadread_tcga_pub; 5 of 619 in coadread_dfci_2016; 12 of 1,015 in crc_sysucc_2022. The studies' own molecular subtype attributes agree: POLE in 8 of 1,134 (crc_msk_2017) and 13 of 1,468 (crc_eo_2020)."}]},{"id":"pole2","kind":"target","name":"POLE2","aka":["DNA polymerase epsilon 2, accessory subunit","DNA polymerase epsilon subunit 2","DPE2"],"tldr":"POLE2 (DNA polymerase epsilon subunit 2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Non-Hodgkin lymphoma, Leukaemia, Lung cancer and 5 more.","summary":"Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.93, animal model 0.43, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9178","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9178"},{"label":"UniProt P56282","url":"https://www.uniprot.org/uniprotkb/P56282/entry"},{"label":"NCBI Gene 5427","url":"https://www.ncbi.nlm.nih.gov/gene/5427"},{"label":"Ensembl ENSG00000100479","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100479"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","leukaemia","lung-cancer","myeloproliferative-neoplasms","breast-cancer","ovarian","mds","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLE2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9178","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9178","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P56282","url":"https://www.uniprot.org/uniprotkb/P56282/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100479","url":"https://platform.opentargets.org/target/ENSG00000100479/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, ovarian cancer 0.58, acute myeloid leukaemia 0.59, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.61 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists POLE2 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA POLE2: RNA tissue enhanced (bone marrow 17 nTPM); no normal tissue stained high. Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Lung cancer (all types), Myeloid neoplasms, Breast cancer (all types), Ovarian cancer); Open Targets associates it with 10 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, non-small cell lung carcinoma, B-cell chronic lymphocytic leukemia, acute myeloid leukemia, exocrine pancreatic carcinoma, ovarian carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas POLE2 tissue","url":"https://www.proteinatlas.org/ENSG00000100479-POLE2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100479 associations","url":"https://platform.opentargets.org/target/ENSG00000100479/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9178","ensembl":"ENSG00000100479","uniprot":"P56282","entrez":"5427","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Li et al, J. Biol. Chem, 1997, \"Purification, cDNA cloning, and gene mapping of the small subunit of human DNA polymerase epsilon\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9405441/","biology":"Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication. Location: Nucleus (UniProt). Locus 14q21.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Myeloproliferative neoplasms: Open Targets association 0.60 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.59 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)"],"targetClass":"other","prevalence":[]},{"id":"pole3","kind":"target","name":"POLE3","aka":["DNA polymerase epsilon 3, accessory subunit","DNA polymerase epsilon subunit 3","CHRAC17","Ybl1","p17","CHARAC17","CHRAC2"],"tldr":"POLE3 (DNA polymerase epsilon subunit 3) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 5 more.","summary":"Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication. Forms a complex with CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.14, genetic association 0.03, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13546","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13546"},{"label":"UniProt Q9NRF9","url":"https://www.uniprot.org/uniprotkb/Q9NRF9/entry"},{"label":"NCBI Gene 54107","url":"https://www.ncbi.nlm.nih.gov/gene/54107"},{"label":"Ensembl ENSG00000148229","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148229"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","lung-cancer","myeloproliferative-neoplasms","breast-cancer","ovarian","mds","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLE3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:13546","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13546","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NRF9","url":"https://www.uniprot.org/uniprotkb/Q9NRF9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000148229","url":"https://platform.opentargets.org/target/ENSG00000148229/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.59, ovarian cancer 0.58, acute myeloid leukaemia 0.59, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.60 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA POLE3: RNA low tissue specificity; no normal tissue stained high; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Lung cancer (all types), Myeloid neoplasms, Breast cancer (all types), Ovarian cancer); Open Targets associates it with 10 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, non-small cell lung carcinoma, acute myeloid leukemia, B-cell chronic lymphocytic leukemia, exocrine pancreatic carcinoma, ovarian carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas POLE3 tissue","url":"https://www.proteinatlas.org/ENSG00000148229-POLE3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000148229 associations","url":"https://platform.opentargets.org/target/ENSG00000148229/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13546","ensembl":"ENSG00000148229","uniprot":"Q9NRF9","entrez":"54107","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Poot R.A. et al, EMBO J, 2000, \"HuCHRAC, a human ISWI chromatin remodelling complex contains hACF1 and two novel histone-fold proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10880450/","biology":"Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication. Forms a complex with CHRAC1 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome-remodeling activity of ISWI/SNF2H and ACF1. Does not enhance nucleosome sliding activity of the ACF-5 ISWI chromatin remodeling complex. Location: Nucleus (UniProt). Locus 9q32 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.59 with lung cancer (MONDO_0008903)","Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)"],"targetClass":"other","prevalence":[]},{"id":"pole4","kind":"target","name":"POLE4","aka":["DNA polymerase epsilon 4, accessory subunit","DNA polymerase epsilon subunit 4","p12"],"tldr":"POLE4 (DNA polymerase epsilon subunit 4) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Pembrolizumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18755","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18755"},{"label":"UniProt Q9NR33","url":"https://www.uniprot.org/uniprotkb/Q9NR33/entry"},{"label":"NCBI Gene 56655","url":"https://www.ncbi.nlm.nih.gov/gene/56655"},{"label":"Ensembl ENSG00000115350","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115350"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLE4","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18755","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18755","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NR33","url":"https://www.uniprot.org/uniprotkb/Q9NR33/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POLE4","url":"https://civicdb.org/features/13465","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Adenocarcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA POLE4: RNA low tissue specificity; high antibody staining in 7 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas POLE4 tissue","url":"https://www.proteinatlas.org/ENSG00000115350-POLE4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115350 associations","url":"https://platform.opentargets.org/target/ENSG00000115350/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18755","ensembl":"ENSG00000115350","uniprot":"Q9NR33","entrez":"56655","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Li et al, J. Biol. Chem, 2000, \"Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10801849/","biology":"Accessory component of the DNA polymerase epsilon complex. Participates in DNA repair and in chromosomal DNA replication. Location: Nucleus (UniProt). Locus 2p12 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"polk","kind":"target","name":"POLK","aka":["DNA polymerase kappa","DINB1"],"tldr":"POLK (DNA polymerase kappa) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.85, genetic association 0.00, somatic mutation 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9183","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9183"},{"label":"UniProt Q9UBT6","url":"https://www.uniprot.org/uniprotkb/Q9UBT6/entry"},{"label":"NCBI Gene 51426","url":"https://www.ncbi.nlm.nih.gov/gene/51426"},{"label":"Ensembl ENSG00000122008","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122008"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ddr","homologous-recombination-repair","synthetic-lethality-map"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLK","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9183","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9183","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UBT6","url":"https://www.uniprot.org/uniprotkb/Q9UBT6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000122008","url":"https://platform.opentargets.org/target/ENSG00000122008/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: prostate cancer 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9183","ensembl":"ENSG00000122008","uniprot":"Q9UBT6","entrez":"51426","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ogi et al, Genes Cells, 1999, \"Mutation enhancement by DINB1, a mammalian homologue of the Escherichia coli mutagenesis protein dinB\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10620008/","biology":"DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity. Location: Nucleus (UniProt). Locus 5q13.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.56 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"polq","kind":"target","name":"POLQ","aka":["DNA polymerase theta"],"tldr":"POLQ (DNA polymerase theta) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Lung cancer, Endometrial cancer, Breast cancer and 5 more.","summary":"Low-fidelity DNA polymerase with a putative helicase activity that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery required to repair double-strand breaks in DNA during mitosis. MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation. MMEJ is required during mitosis to repair persistent double-strand breaks that originate in S-phase.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.18, somatic mutation 0.84, genetic literature 0.30). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Lung Squamous Cell Carcinoma, Melanoma, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9186","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9186"},{"label":"UniProt O75417","url":"https://www.uniprot.org/uniprotkb/O75417/entry"},{"label":"NCBI Gene 10721","url":"https://www.ncbi.nlm.nih.gov/gene/10721"},{"label":"Ensembl ENSG00000051341","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000051341"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","endometrial","breast-cancer","skin-cancer","colorectal","gastric","ovarian","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ddr","homologous-recombination-repair","synthetic-lethality-map"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt keyword \"DNA repair\". Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POLQ","role":["oncogene-driver","tumour-suppressor","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9186","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9186","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75417","url":"https://www.uniprot.org/uniprotkb/O75417/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000051341","url":"https://platform.opentargets.org/target/ENSG00000051341/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.53, colorectal cancer 0.55, gastric cancer 0.52, ovarian cancer 0.50, melanoma 0.60, skin cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen POLQ","url":"https://www.intogen.org/search?gene=POLQ","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9186","ensembl":"ENSG00000051341","uniprot":"O75417","entrez":"10721","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Harris P.V. et al, 1998, \"Catalytic activity of Pol eta, a new human DNA polymerase related to the bacterial DNA polymerase I family and Drosophila Mus308\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/O75417/entry","biology":"Low-fidelity DNA polymerase with a putative helicase activity that promotes microhomology-mediated end-joining (MMEJ), an alternative non-homologous end-joining (NHEJ) machinery required to repair double-strand breaks in DNA during mitosis. MMEJ is an error-prone repair pathway that produces deletions of sequences from the strand being repaired and promotes genomic rearrangements, such as telomere fusions, some of them leading to cellular transformation. MMEJ is required during mitosis to repair persistent double-strand breaks that originate in S-phase. Although error-prone, MMEJ protects against chromosomal instability and tumorigenesis. The polymerase acts by binding directly the 2 ends of resected double-strand breaks, allowing microhomologous sequences in the overhangs to form base pairs. It then extends each strand from the base-paired region using the opposing overhang as a template. Location: Nucleus; Chromosome (UniProt). Locus 3q13.33 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.59 with lung cancer (MONDO_0008903)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)"],"targetClass":"enzyme","prevalence":[]},{"id":"pot1","kind":"target","name":"POT1","aka":["protection of telomeres 1","Protection of telomeres protein 1","hPot1","DKFZp586D211"],"tldr":"POT1 (Protection of telomeres protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 5 more.","summary":"Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.89, genetic association 0.70, somatic mutation 0.87, animal model 0.27). IntOGen calls it a driver in 9 cohorts (5 activating, 4 loss-of-function), covering Angiosarcoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Low-Grade Glioma, NOS, Melanoma, Soft Tissue.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17284","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17284"},{"label":"UniProt Q9NUX5","url":"https://www.uniprot.org/uniprotkb/Q9NUX5/entry"},{"label":"NCBI Gene 25913","url":"https://www.ncbi.nlm.nih.gov/gene/25913"},{"label":"Ensembl ENSG00000128513","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128513"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","lung-cancer","skin-cancer","sarcoma","breast-cancer","melanoma","cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POT1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17284","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17284","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NUX5","url":"https://www.uniprot.org/uniprotkb/Q9NUX5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POT1","url":"https://civicdb.org/features/9935","note":"1 evidence items, 0 assertions, 1 variants; diseases: Chronic Lymphocytic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000128513","url":"https://platform.opentargets.org/target/ENSG00000128513/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: melanoma 0.71, acute lymphoblastic leukaemia 0.64, B-cell chronic lymphocytic leukaemia 0.62, non-Hodgkin lymphoma 0.68, skin cancer 0.59, breast cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen POT1","url":"https://www.intogen.org/search?gene=POT1","note":"driver in 9 cohorts (Act 5, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA POT1: RNA low tissue specificity; no normal tissue stained high. Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Lung cancer (all types), Skin cancer (all types), Sarcomas (soft tissue, bone, GIST), Breast cancer (all types)); Open Targets associates it with 4 specific cancer types at or above 0.5 (tumor predisposition syndrome 3, B-cell chronic lymphocytic leukemia, familial melanoma, hereditary neoplastic syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9NUX5","url":"https://www.uniprot.org/uniprotkb/Q9NUX5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POT1","url":"https://civicdb.org/features/9935","note":"1 evidence items, 0 assertions, 1 variants; diseases: Chronic Lymphocytic Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen POT1","url":"https://www.intogen.org/search?gene=POT1","note":"driver in 9 cohorts (Act 5, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas POT1 tissue","url":"https://www.proteinatlas.org/ENSG00000128513-POT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000128513 associations","url":"https://platform.opentargets.org/target/ENSG00000128513/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17284","ensembl":"ENSG00000128513","uniprot":"Q9NUX5","entrez":"25913","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Baumann et al, Science, 2001, \"Pot1, the putative telomere end-binding protein in fission yeast and humans\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11349150/","biology":"Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Location: Nucleus; Chromosome, telomere (UniProt). Locus 7q31.33 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.70 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.68 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.62 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.59 with skin cancer (MONDO_0002898)","Sarcomas: IntOGen driver in 1 cohort (SOFT_TISSUE)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"oncogene","prevalence":[]},{"id":"pou2af1","kind":"target","name":"POU2AF1","aka":["POU class 2 homeobox associating factor 1","POU domain class 2-associating factor 1","OBF1","BOB1","OCA-B"],"tldr":"POU2AF1 (POU domain class 2-associating factor 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Lung cancer, Skin cancer and 1 more.","summary":"Transcriptional coactivator that specifically associates with either POU2F1/OCT1 or POU2F2/OCT2. It boosts the POU2F1/OCT1 mediated promoter activity and to a lesser extent, that of POU2F2/OCT2. It recognises the POU domains of POU2F1/OCT1 and POU2F2/OCT2.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.46, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9211","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9211"},{"label":"UniProt Q16633","url":"https://www.uniprot.org/uniprotkb/Q16633/entry"},{"label":"NCBI Gene 5450","url":"https://www.ncbi.nlm.nih.gov/gene/5450"},{"label":"Ensembl ENSG00000110777","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110777"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["non-hodgkin-lymphoma","lung-cancer","skin-cancer","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POU2AF1","role":["biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9211","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9211","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16633","url":"https://www.uniprot.org/uniprotkb/Q16633/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POU2AF1","url":"https://civicdb.org/features/4409","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000110777","url":"https://platform.opentargets.org/target/ENSG00000110777/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.54, skin cancer 0.50, lung cancer 0.51 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA POU2AF1: RNA group enriched (intestine 41 nTPM, lymphoid tissue 112 nTPM, stomach 1 38 nTPM); blood lineage lineage enriched (B-cells 34 nTPM); high antibody staining in 3 normal tissues; highest cancer staining melanoma (4 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Lung cancer (all types), Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q16633","url":"https://www.uniprot.org/uniprotkb/Q16633/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POU2AF1","url":"https://civicdb.org/features/4409","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Human Protein Atlas POU2AF1 tissue","url":"https://www.proteinatlas.org/ENSG00000110777-POU2AF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000110777 associations","url":"https://platform.opentargets.org/target/ENSG00000110777/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9211","ensembl":"ENSG00000110777","uniprot":"Q16633","entrez":"5450","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Strubin et al, Cell, 1995, \"OBF-1, a novel B cell-specific coactivator that stimulates immunoglobulin promoter activity through association with octamer-binding proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7859290/","biology":"Transcriptional coactivator that specifically associates with either POU2F1/OCT1 or POU2F2/OCT2. It boosts the POU2F1/OCT1 mediated promoter activity and to a lesser extent, that of POU2F2/OCT2. It recognises the POU domains of POU2F1/OCT1 and POU2F2/OCT2. It is essential for the response of B-cells to antigens and required for the formation of germinal centres. Regulates IL6 expression in B cells as POU2F2/OCT2 coactivator. Location: Nucleus (UniProt). Locus 11q23.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.54 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"pou2f2","kind":"target","name":"POU2F2","aka":["POU class 2 homeobox 2","POU domain, class 2, transcription factor 2","OCT2","OTF2"],"tldr":"POU2F2 (POU domain, class 2, transcription factor 2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma and Diffuse large B-cell lymphoma.","summary":"Transcription factor that specifically binds to the octamer motif (5'-ATTTGCAT-3'). Regulates IL6 expression in B cells with POU2AF1. Regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9213","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9213"},{"label":"UniProt P09086","url":"https://www.uniprot.org/uniprotkb/P09086/entry"},{"label":"NCBI Gene 5452","url":"https://www.ncbi.nlm.nih.gov/gene/5452"},{"label":"Ensembl ENSG00000028277","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000028277"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POU2F2","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9213","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9213","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P09086","url":"https://www.uniprot.org/uniprotkb/P09086/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POU2F2","url":"https://civicdb.org/features/4411","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000028277","url":"https://platform.opentargets.org/target/ENSG00000028277/associations","note":"per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.51 (GraphQL API, CC0)"},{"label":"IntOGen POU2F2","url":"https://www.intogen.org/search?gene=POU2F2","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA POU2F2: RNA tissue enriched (lymphoid tissue 47 nTPM); high antibody staining in 2 normal tissues; highest cancer staining lymphoma (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P09086","url":"https://www.uniprot.org/uniprotkb/P09086/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POU2F2","url":"https://civicdb.org/features/4411","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen POU2F2","url":"https://www.intogen.org/search?gene=POU2F2","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas POU2F2 tissue","url":"https://www.proteinatlas.org/ENSG00000028277-POU2F2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000028277 associations","url":"https://platform.opentargets.org/target/ENSG00000028277/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9213","ensembl":"ENSG00000028277","uniprot":"P09086","entrez":"5452","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Clerc R.G. et al, Genes Dev, 1988, \"The B-cell-specific Oct-2 protein contains POU box- and homeo box-type domains\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3265124/","biology":"Transcription factor that specifically binds to the octamer motif (5'-ATTTGCAT-3'). Regulates IL6 expression in B cells with POU2AF1. Regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression. Modulates transcription transactivation by NR3C1, AR and PGR. Activates the U2 small nuclear RNA (snRNA) promoter. Location: Cytoplasm; Nucleus (UniProt). Locus 19q13.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 2 cohorts (DLBCLNOS)"],"targetClass":"transcription","prevalence":[]},{"id":"pou5f1","kind":"target","name":"POU5F1","aka":["POU class 5 homeobox 1","POU domain, class 5, transcription factor 1","OCT3","Oct4","MGC22487","OCT-4","Oct3/4","OTF3"],"tldr":"POU5F1 (POU domain, class 5, transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Lung cancer.","summary":"Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 or SOX15 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Oxaliplatin. Open Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 1.00, affected pathway 0.36, genetic association 0.00, somatic mutation 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9221","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9221"},{"label":"UniProt Q01860","url":"https://www.uniprot.org/uniprotkb/Q01860/entry"},{"label":"NCBI Gene 5460","url":"https://www.ncbi.nlm.nih.gov/gene/5460"},{"label":"Ensembl ENSG00000204531","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204531"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POU5F1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9221","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9221","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01860","url":"https://www.uniprot.org/uniprotkb/Q01860/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene POU5F1","url":"https://civicdb.org/features/4419","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colon Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000204531","url":"https://platform.opentargets.org/target/ENSG00000204531/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: lung cancer 0.53 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA POU5F1: RNA tissue enhanced (kidney 17 nTPM); high antibody staining in 3 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas POU5F1 tissue","url":"https://www.proteinatlas.org/ENSG00000204531-POU5F1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000204531 associations","url":"https://platform.opentargets.org/target/ENSG00000204531/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9221","ensembl":"ENSG00000204531","uniprot":"Q01860","entrez":"5460","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeda et al, Nucleic Acids Res, 1992, \"Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1408763/","biology":"Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 or SOX15 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency. Location: Cytoplasm; Nucleus (UniProt). Locus 6p21.33 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)"],"targetClass":"transcription","prevalence":[]},{"id":"pou5f1b","kind":"target","name":"POU5F1B","aka":["POU class 5 homeobox 1B","POU domain, class 5, transcription factor 1B","OTF3C","OTF3P1","POU5F1P1"],"tldr":"POU5F1B (POU domain, class 5, transcription factor 1B) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer and Colorectal cancer.","summary":"Shows weak transcriptional activator activity.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.85).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9223","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9223"},{"label":"UniProt Q06416","url":"https://www.uniprot.org/uniprotkb/Q06416/entry"},{"label":"NCBI Gene 5462","url":"https://www.ncbi.nlm.nih.gov/gene/5462"},{"label":"Ensembl ENSG00000212993","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000212993"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"POU5F1B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9223","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9223","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06416","url":"https://www.uniprot.org/uniprotkb/Q06416/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000212993","url":"https://platform.opentargets.org/target/ENSG00000212993/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: colorectal cancer 0.56, prostate cancer 0.64 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9223","ensembl":"ENSG00000212993","uniprot":"Q06416","entrez":"5462","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeda et al, Nucleic Acids Res, 1992, \"Human Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissues\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1408763/","biology":"Shows weak transcriptional activator activity. Location: Nucleus; Cytoplasm (UniProt). Locus 8q24.21 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.64 with prostate cancer (MONDO_0008315)","Colorectal cancer: Open Targets association 0.56 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"pparg","kind":"target","name":"PPARG","aka":["peroxisome proliferator activated receptor gamma","Peroxisome proliferator-activated receptor gamma","PPARG1","PPARG2","NR1C3","PPARgamma"],"tldr":"PPARG (Peroxisome proliferator-activated receptor gamma) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Thyroid cancer and Endometrial cancer.","summary":"Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid metabolism, glucose homeostasis and beta-oxidation of fatty acids. Activated by lipid ligands: binds peroxisome proliferators, such as hypolipidemic drugs, and fatty acids, such as prostaglandin J2 metabolites. Ligand-binding results in a conformational change in the receptor, promoting dissociation of repressors and recruitment of coactivators, and subsequent activation of target gene expression.\n\nOpen Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.30, clinical 0.58, affected pathway 0.25, literature 1.00, genetic association 0.50, somatic mutation 0.93, animal model 0.38).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9236","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9236"},{"label":"UniProt P37231","url":"https://www.uniprot.org/uniprotkb/P37231/entry"},{"label":"NCBI Gene 5468","url":"https://www.ncbi.nlm.nih.gov/gene/5468"},{"label":"Ensembl ENSG00000132170","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132170"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","thyroid","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.58. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPARG","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9236","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9236","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P37231","url":"https://www.uniprot.org/uniprotkb/P37231/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000132170","url":"https://platform.opentargets.org/target/ENSG00000132170/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: colorectal cancer 0.59, endometrial cancer 0.54, thyroid cancer 0.56 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PPARG: RNA tissue enhanced (adipose tissue 153 nTPM, breast 84 nTPM); high antibody staining in 11 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Thyroid cancer, Endometrial cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (colon carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PPARG tissue","url":"https://www.proteinatlas.org/ENSG00000132170-PPARG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000132170 associations","url":"https://platform.opentargets.org/target/ENSG00000132170/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9236","ensembl":"ENSG00000132170","uniprot":"P37231","entrez":"5468","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Greene M.E. et al, Gene Expr, 1995, \"Isolation of the human peroxisome proliferator activated receptor gamma cDNA: expression in hematopoietic cells and chromosomal mapping\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7787419/","biology":"Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid metabolism, glucose homeostasis and beta-oxidation of fatty acids. Activated by lipid ligands: binds peroxisome proliferators, such as hypolipidemic drugs, and fatty acids, such as prostaglandin J2 metabolites. Ligand-binding results in a conformational change in the receptor, promoting dissociation of repressors and recruitment of coactivators, and subsequent activation of target gene expression. Specifically binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated pro-inflammatory responses. Plays a role in the regulation of cardiovascular circadian rhythms by regulating the transcription of BMAL1 in the blood vessels. Location: Nucleus; Cytoplasm (UniProt). Locus 3p25.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.59 with colorectal cancer (MONDO_0005575)","Thyroid cancer: Open Targets association 0.56 with thyroid cancer (MONDO_0002108)","Endometrial cancer: Open Targets association 0.54 with endometrial cancer (MONDO_0011962)"],"targetClass":"transcription","prevalence":[]},{"id":"ppat","kind":"target","name":"PPAT","aka":["phosphoribosyl pyrophosphate amidotransferase","Amidophosphoribosyltransferase"],"tldr":"PPAT (Amidophosphoribosyltransferase) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Non-Hodgkin lymphoma and Acute lymphoblastic leukaemia.","summary":"Catalyses the formation of phosphoribosylamine from phosphoribosylpyrophosphate (PRPP) and glutamine.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.89, animal model 0.56, genetic association 0.60, clinical 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9238","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9238"},{"label":"UniProt Q06203","url":"https://www.uniprot.org/uniprotkb/Q06203/entry"},{"label":"NCBI Gene 5471","url":"https://www.ncbi.nlm.nih.gov/gene/5471"},{"label":"Ensembl ENSG00000128059","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128059"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.98. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPAT","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9238","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9238","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06203","url":"https://www.uniprot.org/uniprotkb/Q06203/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000128059","url":"https://platform.opentargets.org/target/ENSG00000128059/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.59, non-Hodgkin lymphoma 0.59, leukaemia 0.60 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PPAT among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PPAT: RNA low tissue specificity; high antibody staining in 1 normal tissue. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute lymphoblastic leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PPAT tissue","url":"https://www.proteinatlas.org/ENSG00000128059-PPAT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000128059 associations","url":"https://platform.opentargets.org/target/ENSG00000128059/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9238","ensembl":"ENSG00000128059","uniprot":"Q06203","entrez":"5471","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Iwahana et al, Biochem. Biophys. Res. Commun, 1993, \"Molecular cloning of human amidophosphoribosyltransferase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8380692/","biology":"Catalyses the formation of phosphoribosylamine from phosphoribosylpyrophosphate (PRPP) and glutamine. Locus 4q12 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Acute lymphoblastic leukaemia: Open Targets association 0.59 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"enzyme","prevalence":[]},{"id":"ppfibp1","kind":"target","name":"PPFIBP1","aka":["PPFIB scaffold protein 1","Liprin-beta-1","L2","hSGT2","hSgt2p","SGT2","liprin-beta1"],"tldr":"PPFIBP1 (Liprin-beta-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.79, affected pathway 0.76, genetic association 0.04, somatic mutation 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9249","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9249"},{"label":"UniProt Q86W92","url":"https://www.uniprot.org/uniprotkb/Q86W92/entry"},{"label":"NCBI Gene 8496","url":"https://www.ncbi.nlm.nih.gov/gene/8496"},{"label":"Ensembl ENSG00000110841","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110841"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPFIBP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9249","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9249","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86W92","url":"https://www.uniprot.org/uniprotkb/Q86W92/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000110841","url":"https://platform.opentargets.org/target/ENSG00000110841/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9249","ensembl":"ENSG00000110841","uniprot":"Q86W92","entrez":"8496","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Serra-Pages et al, J. Biol. Chem, 1998, \"Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9624153/","biology":"May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A. Location: Cytoplasm, cell cortex (UniProt). Locus 12p11.23-p11.22 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ppm1b","kind":"target","name":"PPM1B","aka":["protein phosphatase, Mg2+/Mn2+ dependent 1B","Protein phosphatase 1B","PPC2BETAX","PP2CB","PP2CBETA"],"tldr":"PPM1B (Protein phosphatase 1B) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Enzyme with a broad specificity. Dephosphorylates CDK2 and CDK6 in vitro. Dephosphorylates PRKAA1 and PRKAA2.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.78, affected pathway 0.83, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9276","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9276"},{"label":"UniProt O75688","url":"https://www.uniprot.org/uniprotkb/O75688/entry"},{"label":"NCBI Gene 5495","url":"https://www.ncbi.nlm.nih.gov/gene/5495"},{"label":"Ensembl ENSG00000138032","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138032"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPM1B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9276","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9276","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75688","url":"https://www.uniprot.org/uniprotkb/O75688/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138032","url":"https://platform.opentargets.org/target/ENSG00000138032/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9276","ensembl":"ENSG00000138032","uniprot":"O75688","entrez":"5495","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Marely A.E. et al, FEBS Lett, 1998, \"The cloning expression and tissue distribution of human PP2Cbeta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9684878/","biology":"Enzyme with a broad specificity. Dephosphorylates CDK2 and CDK6 in vitro. Dephosphorylates PRKAA1 and PRKAA2. Inhibits TBK1-mediated antiviral signalling by dephosphorylating it at 'Ser-172'. Plays an important role in the termination of TNF-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB. Location: Cytoplasm, cytosol; Membrane (UniProt). Locus 2p21 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"ppm1d","kind":"target","name":"PPM1D","aka":["protein phosphatase, Mg2+/Mn2+ dependent 1D","Protein phosphatase 1D","Wip1","PP2C-DELTA"],"tldr":"PPM1D (Protein phosphatase 1D) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Ovarian cancer, Myeloproliferative neoplasms and 5 more.","summary":"Involved in the negative regulation of p53 expression. Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins.\n\nOpen Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.38, affected pathway 0.34, literature 0.99, genetic association 0.72, somatic mutation 0.93, animal model 0.29). IntOGen calls it a driver in 6 cohorts (0 activating, 6 loss-of-function), covering Basal Cell Carcinoma, Invasive Breast Carcinoma, High-Grade Glioma, NOS, Lung Adenocarcinoma, Pilocytic Astrocytoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9277","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9277"},{"label":"UniProt O15297","url":"https://www.uniprot.org/uniprotkb/O15297/entry"},{"label":"NCBI Gene 8493","url":"https://www.ncbi.nlm.nih.gov/gene/8493"},{"label":"Ensembl ENSG00000170836","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170836"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","ovarian","myeloproliferative-neoplasms","skin-cancer","colorectal","nsclc","basal-cell-carcinoma","paediatric-low-grade-glioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["clonal-haematopoiesis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: High-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPM1D","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9277","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9277","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15297","url":"https://www.uniprot.org/uniprotkb/O15297/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000170836","url":"https://platform.opentargets.org/target/ENSG00000170836/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: colorectal cancer 0.51, ovarian cancer 0.58, skin cancer 0.52, myeloproliferative neoplasm 0.56, breast cancer 0.71 (GraphQL API, CC0)"},{"label":"IntOGen PPM1D","url":"https://www.intogen.org/search?gene=PPM1D","note":"driver in 6 cohorts (Act 0, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9277","ensembl":"ENSG00000170836","uniprot":"O15297","entrez":"8493","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fiscella et al, Proc. Natl. Acad. Sci. U.S.A, 1997, \"Wip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent manner\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9177166/","biology":"Involved in the negative regulation of p53 expression. Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins. Mediates MAPK14 dephosphorylation and inactivation. Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity. Location: Nucleus; Cytoplasm, cytosol (UniProt). Locus 17q23.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.71 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)","Myeloproliferative neoplasms: Open Targets association 0.56 with myeloproliferative neoplasm (MONDO_0020076)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Non-small-cell lung cancer: IntOGen driver in 2 cohorts (LUAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ppp1r14a","kind":"target","name":"PPP1R14A","aka":["protein phosphatase 1 regulatory inhibitor subunit 14A","Protein phosphatase 1 regulatory subunit 14A","CPI-17","PPP1INL"],"tldr":"PPP1R14A (Protein phosphatase 1 regulatory subunit 14A) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Inhibitor of PPP1CA. Has over 1000-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.78, genetic association 0.74).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14871","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14871"},{"label":"UniProt Q96A00","url":"https://www.uniprot.org/uniprotkb/Q96A00/entry"},{"label":"NCBI Gene 94274","url":"https://www.ncbi.nlm.nih.gov/gene/94274"},{"label":"Ensembl ENSG00000167641","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167641"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP1R14A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:14871","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14871","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96A00","url":"https://www.uniprot.org/uniprotkb/Q96A00/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000167641","url":"https://platform.opentargets.org/target/ENSG00000167641/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: prostate cancer 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:14871","ensembl":"ENSG00000167641","uniprot":"Q96A00","entrez":"94274","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cui W.C. et al, 1999, \"Cloning a new human cDNA homologous to Sus scrofa mRNA for 17-KDa PKC-potentiated inhibitory protein of PP1\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96A00/entry","biology":"Inhibitor of PPP1CA. Has over 1000-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction. Location: Cytoplasm (UniProt). Locus 19q13.1 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.56 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"ppp1r15a","kind":"target","name":"PPP1R15A","aka":["protein phosphatase 1 regulatory subunit 15A","Protein phosphatase 1 regulatory subunit 15A","GADD34"],"tldr":"PPP1R15A (Protein phosphatase 1 regulatory subunit 15A) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Recruits the serine/threonine-protein phosphatase PPP1CA to prevents excessive phosphorylation of the translation initiation factor eIF-2A/EIF2S1, thereby reversing the shut-off of protein synthesis initiated by stress-inducible kinases and facilitating recovery of cells from stress. Down-regulates the TGF-beta signalling pathway by promoting dephosphorylation of TGFB1 by PP1. May promote apoptosis by inducing p53/TP53 phosphorylation on 'Ser-15'.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Bevacizumab and FOLFIRI Regimen.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14375","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14375"},{"label":"UniProt O75807","url":"https://www.uniprot.org/uniprotkb/O75807/entry"},{"label":"NCBI Gene 23645","url":"https://www.ncbi.nlm.nih.gov/gene/23645"},{"label":"Ensembl ENSG00000087074","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000087074"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP1R15A","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14375","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14375","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75807","url":"https://www.uniprot.org/uniprotkb/O75807/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PPP1R15A","url":"https://civicdb.org/features/9722","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PPP1R15A: RNA tissue enhanced (bone marrow 529 nTPM); blood lineage group enriched (dendritic cells 114 nTPM, granulocytes 335 nTPM); high antibody staining in 2 normal tissues; highest cancer staining endometrial cancer (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PPP1R15A tissue","url":"https://www.proteinatlas.org/ENSG00000087074-PPP1R15A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000087074 associations","url":"https://platform.opentargets.org/target/ENSG00000087074/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14375","ensembl":"ENSG00000087074","uniprot":"O75807","entrez":"23645","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hollander M.C. et al, J. Biol. Chem, 1997, \"Mammalian GADD34, an apoptosis- and DNA damage-inducible gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9153226/","biology":"Recruits the serine/threonine-protein phosphatase PPP1CA to prevents excessive phosphorylation of the translation initiation factor eIF-2A/EIF2S1, thereby reversing the shut-off of protein synthesis initiated by stress-inducible kinases and facilitating recovery of cells from stress. Down-regulates the TGF-beta signalling pathway by promoting dephosphorylation of TGFB1 by PP1. May promote apoptosis by inducing p53/TP53 phosphorylation on 'Ser-15'. Plays an essential role in autophagy by tuning translation during starvation, thus enabling lysosomal biogenesis and a sustained autophagic flux. Also acts a viral restriction factor by attenuating HIV-1 and influenza A virus replication. Mechanistically, mediates the inhibition of HIV-1 TAR RNA-mediated translation. Location: Endoplasmic reticulum membrane; Mitochondrion outer membrane (UniProt). Locus 19q13.2 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ppp2ca","kind":"target","name":"PPP2CA","aka":["protein phosphatase 2 catalytic subunit alpha","Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform","PP2Calpha","PP2AC"],"tldr":"PPP2CA (Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform) is an enzyme. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Catalytic subunit of protein phosphatase 2A (PP2A), a serine/threonine phosphatase involved in the regulation of a wide variety of enzymes, signal transduction pathways, and cellular events. PP2A is the major phosphatase for microtubule-associated proteins (MAPs). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes clinical 0.13, affected pathway 0.78, literature 0.87, genetic association 0.00, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9299","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9299"},{"label":"UniProt P67775","url":"https://www.uniprot.org/uniprotkb/P67775/entry"},{"label":"NCBI Gene 5515","url":"https://www.ncbi.nlm.nih.gov/gene/5515"},{"label":"Ensembl ENSG00000113575","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113575"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.13. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2CA","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9299","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9299","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P67775","url":"https://www.uniprot.org/uniprotkb/P67775/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000113575","url":"https://platform.opentargets.org/target/ENSG00000113575/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA lists PPP2CA among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PPP2CA: RNA low tissue specificity; no normal tissue stained high; highest cancer staining glioma (2 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PPP2CA tissue","url":"https://www.proteinatlas.org/ENSG00000113575-PPP2CA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113575 associations","url":"https://platform.opentargets.org/target/ENSG00000113575/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9299","ensembl":"ENSG00000113575","uniprot":"P67775","entrez":"5515","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stone S.R. et al, Nucleic Acids Res, 1988, \"The nucleotide sequence of the cDNA encoding the human lung protein phosphatase 2A alpha catalytic subunit\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2849764/","biology":"Catalytic subunit of protein phosphatase 2A (PP2A), a serine/threonine phosphatase involved in the regulation of a wide variety of enzymes, signal transduction pathways, and cellular events. PP2A is the major phosphatase for microtubule-associated proteins (MAPs). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Cooperates with SGO2 to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I. Can dephosphorylate various proteins, such as SV40 large T antigen, AXIN1, p53/TP53, PIM3, WEE1. Activates RAF1 by dephosphorylating it at 'Ser-259'. Location: Cytoplasm; Nucleus; Chromosome; Chromosome, centromere (UniProt). Locus 5q31.1 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"ppp2cb","kind":"target","name":"PPP2CB","aka":["protein phosphatase 2 catalytic subunit beta","Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform","PP2Abeta"],"tldr":"PPP2CB (Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform) is an enzyme. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Catalytic subunit of protein phosphatase 2A (PP2A), a serine/threonine phosphatase involved in the regulation of a wide variety of enzymes, signal transduction pathways, and cellular events. PP2A can modulate the activity of phosphorylase B kinase, casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes clinical 0.13, affected pathway 0.89, literature 0.38, genetic association 0.03, animal model 0.47).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9300","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9300"},{"label":"UniProt P62714","url":"https://www.uniprot.org/uniprotkb/P62714/entry"},{"label":"NCBI Gene 5516","url":"https://www.ncbi.nlm.nih.gov/gene/5516"},{"label":"Ensembl ENSG00000104695","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104695"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.13. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2CB","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9300","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9300","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62714","url":"https://www.uniprot.org/uniprotkb/P62714/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104695","url":"https://platform.opentargets.org/target/ENSG00000104695/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PPP2CB: RNA low tissue specificity; high antibody staining in 22 normal tissues; highest cancer staining glioma (2 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PPP2CB tissue","url":"https://www.proteinatlas.org/ENSG00000104695-PPP2CB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000104695 associations","url":"https://platform.opentargets.org/target/ENSG00000104695/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9300","ensembl":"ENSG00000104695","uniprot":"P62714","entrez":"5516","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hemmings B.A. et al, Nucleic Acids Res, 1988, \"The nucleotide sequence of the cDNA encoding the human lung protein phosphatase 2A beta catalytic subunit\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2849765/","biology":"Catalytic subunit of protein phosphatase 2A (PP2A), a serine/threonine phosphatase involved in the regulation of a wide variety of enzymes, signal transduction pathways, and cellular events. PP2A can modulate the activity of phosphorylase B kinase, casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signalling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation. Location: Cytoplasm; Nucleus; Chromosome, centromere; Cytoplasm, cytoskeleton, spindle pole (UniProt). Locus 8p12 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"ppp2r1a","kind":"target","name":"PPP2R1A","aka":["protein phosphatase 2 scaffold subunit Aalpha","Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform","PR65A","PP2A-Aalpha","PP2AA"],"tldr":"PPP2R1A is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT. Required for proper chromosome segregation and for centromeric localisation of SGO1 in mitosis.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Ipilimumab/Nivolumab Regimen and Durvalumab/Tremelimumab Regimen. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes affected pathway 0.89, literature 0.89, genetic association 0.00, somatic mutation 0.97, animal model 0.69). IntOGen calls it a driver in 11 cohorts (10 activating, 1 loss-of-function), covering Adenoid Cystic Carcinoma, Colorectal Adenocarcinoma, Ovarian Epithelial Tumour, Small Cell Lung Cancer, Endometrial Carcinoma, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumour and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9302","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9302"},{"label":"UniProt P30153","url":"https://www.uniprot.org/uniprotkb/P30153/entry"},{"label":"NCBI Gene 5518","url":"https://www.ncbi.nlm.nih.gov/gene/5518"},{"label":"Ensembl ENSG00000105568","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105568"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["endometrial","colorectal","ovarian","salivary-gland","thyroid","lung-cancer","skin-cancer","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 10 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Ovarian Clear Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2R1A","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9302","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9302","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30153","url":"https://www.uniprot.org/uniprotkb/P30153/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PPP2R1A","url":"https://civicdb.org/features/4463","note":"2 evidence items, 0 assertions, 2 variants; diseases: Ovarian Clear Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000105568","url":"https://platform.opentargets.org/target/ENSG00000105568/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: colorectal cancer 0.54, gastric cancer 0.50, ovarian cancer 0.51, endometrial cancer 0.68, melanoma 0.55, skin cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen PPP2R1A","url":"https://www.intogen.org/search?gene=PPP2R1A","note":"driver in 11 cohorts (Act 10, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PPP2R1A: RNA low tissue specificity; no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Endometrial cancer, Colorectal cancer, Ovarian cancer, Salivary gland cancers, Thyroid cancer, Lung cancer (all types), Skin cancer (all types) and more); Open Targets associates it with 1 specific cancer type at or above 0.5 (endometrial cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P30153","url":"https://www.uniprot.org/uniprotkb/P30153/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PPP2R1A","url":"https://civicdb.org/features/4463","note":"2 evidence items, 0 assertions, 2 variants; diseases: Ovarian Clear Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen PPP2R1A","url":"https://www.intogen.org/search?gene=PPP2R1A","note":"driver in 11 cohorts (Act 10, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PPP2R1A tissue","url":"https://www.proteinatlas.org/ENSG00000105568-PPP2R1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105568 associations","url":"https://platform.opentargets.org/target/ENSG00000105568/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9302","ensembl":"ENSG00000105568","uniprot":"P30153","entrez":"5518","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Walter et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"Molecular cloning and sequence of cDNA encoding polyoma medium tumor antigen-associated 61-kDa protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2554323/","biology":"The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT. Required for proper chromosome segregation and for centromeric localisation of SGO1 in mitosis. Together with RACK1 adapter, mediates dephosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signalling pathway. Dephosphorylation of AKT1 is essential for regulatory T-cells (Treg) homeostasis and stability. Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. Location: Cytoplasm; Nucleus; Chromosome; Chromosome, centromere (UniProt). Locus 19q13.41 (HGNC).","whereFound":["Endometrial cancer: Open Targets association 0.68 with endometrial cancer (MONDO_0011962); IntOGen driver in 4 cohorts (UCEC)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Salivary gland cancers: IntOGen driver in 1 cohort (ACYC)","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Lung cancer: Open Targets association 0.56 with lung cancer (MONDO_0008903)"],"targetClass":"oncogene","prevalence":[]},{"id":"ppp2r1b","kind":"target","name":"PPP2R1B","aka":["protein phosphatase 2 scaffold subunit Abeta","Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform","PR65B","PP2A-Abeta"],"tldr":"PPP2R1B (Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.74, affected pathway 0.89, genetic association 0.51, somatic mutation 0.55).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9303","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9303"},{"label":"UniProt P30154","url":"https://www.uniprot.org/uniprotkb/P30154/entry"},{"label":"NCBI Gene 5519","url":"https://www.ncbi.nlm.nih.gov/gene/5519"},{"label":"Ensembl ENSG00000137713","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137713"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2R1B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9303","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9303","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30154","url":"https://www.uniprot.org/uniprotkb/P30154/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137713","url":"https://platform.opentargets.org/target/ENSG00000137713/associations","note":"association with cancer (MONDO_0004992) 0.68;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9303","ensembl":"ENSG00000137713","uniprot":"P30154","entrez":"5519","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hemmings B.A. et al, Biochemistry, 1990, \"Alpha- and beta-forms of the 65-kDa subunit of protein phosphatase 2A have a similar 39 amino acid repeating structure\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2159327/","biology":"The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. Locus 11q23.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ppp2r2a","kind":"target","name":"PPP2R2A","aka":["protein phosphatase 2 regulatory subunit Balpha","Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform","PR52A","PR55A","B55A","PR55alpha","B55alpha"],"tldr":"PPP2R2A (Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Substrate-recognition subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit. Involved in chromosome clustering during late mitosis by mediating dephosphorylation of MKI67. Essential for serine/threonine-protein phosphatase 2A-mediated dephosphorylation of WEE1, preventing its ubiquitin-mediated proteolysis, increasing WEE1 protein levels, and promoting the G2/M checkpoint.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Olaparib and PARP Inhibitor ABT-888.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9304","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9304"},{"label":"UniProt P63151","url":"https://www.uniprot.org/uniprotkb/P63151/entry"},{"label":"NCBI Gene 5520","url":"https://www.ncbi.nlm.nih.gov/gene/5520"},{"label":"Ensembl ENSG00000221914","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000221914"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2R2A","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9304","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9304","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P63151","url":"https://www.uniprot.org/uniprotkb/P63151/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PPP2R2A","url":"https://civicdb.org/features/4465","note":"2 evidence items, 0 assertions, 2 variants; diseases: Cancer, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PPP2R2A: RNA low tissue specificity; high antibody staining in 12 normal tissues; highest cancer staining melanoma (3 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PPP2R2A tissue","url":"https://www.proteinatlas.org/ENSG00000221914-PPP2R2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000221914 associations","url":"https://platform.opentargets.org/target/ENSG00000221914/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9304","ensembl":"ENSG00000221914","uniprot":"P63151","entrez":"5520","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mayer R.E. et al, Biochemistry, 1991, \"Structure of the 55-kDa regulatory subunit of protein phosphatase 2A: evidence for a neuronal-specific isoform\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1849734/","biology":"Substrate-recognition subunit of protein phosphatase 2A (PP2A) that plays a key role in cell cycle by controlling mitosis entry and exit. Involved in chromosome clustering during late mitosis by mediating dephosphorylation of MKI67. Essential for serine/threonine-protein phosphatase 2A-mediated dephosphorylation of WEE1, preventing its ubiquitin-mediated proteolysis, increasing WEE1 protein levels, and promoting the G2/M checkpoint. Locus 8p21.2 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ppp2r5a","kind":"target","name":"PPP2R5A","aka":["protein phosphatase 2 regulatory subunit B'alpha","Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform","PR61A","B56A","B56alpha"],"tldr":"PPP2R5A (Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localisation of the catalytic enzyme to a particular subcellular compartment.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.69, affected pathway 0.89, animal model 0.62, genetic association 0.19).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9309","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9309"},{"label":"UniProt Q15172","url":"https://www.uniprot.org/uniprotkb/Q15172/entry"},{"label":"NCBI Gene 5525","url":"https://www.ncbi.nlm.nih.gov/gene/5525"},{"label":"Ensembl ENSG00000066027","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000066027"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2R5A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9309","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9309","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15172","url":"https://www.uniprot.org/uniprotkb/Q15172/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000066027","url":"https://platform.opentargets.org/target/ENSG00000066027/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9309","ensembl":"ENSG00000066027","uniprot":"Q15172","entrez":"5525","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McCright et al, J. Biol. Chem, 1995, \"Identification of a new family of protein phosphatase 2A regulatory subunits\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7592815/","biology":"The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localisation of the catalytic enzyme to a particular subcellular compartment. Location: Cytoplasm; Nucleus; Chromosome, centromere (UniProt). Locus 1q32.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ppp2r5b","kind":"target","name":"PPP2R5B","aka":["protein phosphatase 2 regulatory subunit B'beta","Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform","FLJ35411","B56B","PR61B","B56beta"],"tldr":"PPP2R5B (Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"As the regulatory component of the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localisation, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.27, affected pathway 0.89, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9310","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9310"},{"label":"UniProt Q15173","url":"https://www.uniprot.org/uniprotkb/Q15173/entry"},{"label":"NCBI Gene 5526","url":"https://www.ncbi.nlm.nih.gov/gene/5526"},{"label":"Ensembl ENSG00000068971","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000068971"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2R5B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9310","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9310","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15173","url":"https://www.uniprot.org/uniprotkb/Q15173/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000068971","url":"https://platform.opentargets.org/target/ENSG00000068971/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9310","ensembl":"ENSG00000068971","uniprot":"Q15173","entrez":"5526","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McCright et al, J. Biol. Chem, 1995, \"Identification of a new family of protein phosphatase 2A regulatory subunits\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7592815/","biology":"As the regulatory component of the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localisation, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation. Location: Cytoplasm (UniProt). Locus 11q13.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ppp2r5c","kind":"target","name":"PPP2R5C","aka":["protein phosphatase 2 regulatory subunit B'gamma","Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform","B56G","PR61G","B56gamma"],"tldr":"PPP2R5C (Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localisation of the catalytic enzyme to a particular subcellular compartment. The PP2A-PPP2R5C holoenzyme may specifically dephosphorylate and activate TP53 and play a role in DNA damage-induced inhibition of cell proliferation. PP2A-PPP2R5C may also regulate the ERK signalling pathway through ERK dephosphorylation.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes affected pathway 0.89, literature 0.82, genetic association 0.00, somatic mutation 0.23, animal model 0.32). In OnCo, 1 product record names it (Cologuard Plus).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9311","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9311"},{"label":"UniProt Q13362","url":"https://www.uniprot.org/uniprotkb/Q13362/entry"},{"label":"NCBI Gene 5527","url":"https://www.ncbi.nlm.nih.gov/gene/5527"},{"label":"Ensembl ENSG00000078304","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000078304"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["cologuard-plus"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2R5C","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9311","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9311","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13362","url":"https://www.uniprot.org/uniprotkb/Q13362/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000078304","url":"https://platform.opentargets.org/target/ENSG00000078304/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Cologuard Plus) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA PPP2R5C: RNA low tissue specificity; high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PPP2R5C tissue","url":"https://www.proteinatlas.org/ENSG00000078304-PPP2R5C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000078304 associations","url":"https://platform.opentargets.org/target/ENSG00000078304/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9311","ensembl":"ENSG00000078304","uniprot":"Q13362","entrez":"5527","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584044/","biology":"The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localisation of the catalytic enzyme to a particular subcellular compartment. The PP2A-PPP2R5C holoenzyme may specifically dephosphorylate and activate TP53 and play a role in DNA damage-induced inhibition of cell proliferation. PP2A-PPP2R5C may also regulate the ERK signalling pathway through ERK dephosphorylation. Location: Nucleus; Chromosome, centromere (UniProt). Locus 14q32.31 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ppp2r5d","kind":"target","name":"PPP2R5D","aka":["protein phosphatase 2 regulatory subunit B'delta","Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform","B56D","B56delta"],"tldr":"PPP2R5D (Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localisation of the catalytic enzyme to a particular subcellular compartment.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.53, affected pathway 0.89, animal model 0.33, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9312","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9312"},{"label":"UniProt Q14738","url":"https://www.uniprot.org/uniprotkb/Q14738/entry"},{"label":"NCBI Gene 5528","url":"https://www.ncbi.nlm.nih.gov/gene/5528"},{"label":"Ensembl ENSG00000112640","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112640"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2R5D","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9312","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9312","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14738","url":"https://www.uniprot.org/uniprotkb/Q14738/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000112640","url":"https://platform.opentargets.org/target/ENSG00000112640/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9312","ensembl":"ENSG00000112640","uniprot":"Q14738","entrez":"5528","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McCright et al, J. Biol. Chem, 1996, \"The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8703017/","biology":"The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localisation of the catalytic enzyme to a particular subcellular compartment. Location: Cytoplasm; Nucleus (UniProt). Locus 6p21.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ppp2r5e","kind":"target","name":"PPP2R5E","aka":["protein phosphatase 2 regulatory subunit B'epsilon","Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform","B56E","B56epsilon"],"tldr":"PPP2R5E (Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localisation of the catalytic enzyme to a particular subcellular compartment.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.81, affected pathway 0.89, genetic association 0.07).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9313","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9313"},{"label":"UniProt Q16537","url":"https://www.uniprot.org/uniprotkb/Q16537/entry"},{"label":"NCBI Gene 5529","url":"https://www.ncbi.nlm.nih.gov/gene/5529"},{"label":"Ensembl ENSG00000154001","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000154001"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP2R5E","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9313","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9313","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16537","url":"https://www.uniprot.org/uniprotkb/Q16537/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000154001","url":"https://platform.opentargets.org/target/ENSG00000154001/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9313","ensembl":"ENSG00000154001","uniprot":"Q16537","entrez":"5529","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zolnierowicz et al, Biochem. J, 1996, \"The variable subunit associated with protein phosphatase 2A0 defines a novel multimember family of regulatory subunits\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8694763/","biology":"The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localisation of the catalytic enzyme to a particular subcellular compartment. Location: Cytoplasm (UniProt). Locus 14q23.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ppp3ca","kind":"target","name":"PPP3CA","aka":["protein phosphatase 3 catalytic subunit alpha","Protein phosphatase 3 catalytic subunit alpha","CNA1","PPP2B","CALNA"],"tldr":"PPP3CA (Protein phosphatase 3 catalytic subunit alpha) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals. Many of the substrates contain a PxIxIT motif and/or a LxVP motif. In response to increased Ca(2+) levels, dephosphorylates and activates phosphatase SSH1 which results in cofilin dephosphorylation.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9314","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9314"},{"label":"UniProt Q08209","url":"https://www.uniprot.org/uniprotkb/Q08209/entry"},{"label":"NCBI Gene 5530","url":"https://www.ncbi.nlm.nih.gov/gene/5530"},{"label":"Ensembl ENSG00000138814","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138814"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP3CA","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9314","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9314","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q08209","url":"https://www.uniprot.org/uniprotkb/Q08209/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PPP3CA","url":"https://www.intogen.org/search?gene=PPP3CA","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9314","ensembl":"ENSG00000138814","uniprot":"Q08209","entrez":"5530","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Muramatsu et al, Biochim. Biophys. Acta, 1993, \"Molecular cloning of a full-length cDNA encoding the catalytic subunit of human calmodulin-dependent protein phosphatase (calcineurin A alpha)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8392375/","biology":"Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals. Many of the substrates contain a PxIxIT motif and/or a LxVP motif. In response to increased Ca(2+) levels, dephosphorylates and activates phosphatase SSH1 which results in cofilin dephosphorylation. In response to increased Ca(2+) levels following mitochondrial depolarisation, dephosphorylates DNM1L inducing DNM1L translocation to the mitochondrion. Positively regulates the CACNA1B/CAV2.2-mediated Ca(2+) release probability at hippocampal neuronal soma and synaptic terminals. Dephosphorylates heat shock protein HSPB1. Location: Cytoplasm; Cell membrane; Cell membrane, sarcolemma; Cytoplasm, myofibril, sarcomere, Z line (UniProt). Locus 4q24 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ppp6c","kind":"target","name":"PPP6C","aka":["protein phosphatase 6 catalytic subunit","Serine/threonine-protein phosphatase 6 catalytic subunit","PP6"],"tldr":"PPP6C (Serine/threonine-protein phosphatase 6 catalytic subunit) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer, Melanoma and Basal cell carcinoma.","summary":"Catalytic subunit of protein phosphatase 6 (PP6). PP6 is a component of a signalling pathway regulating cell cycle progression in response to IL2 receptor stimulation. N-terminal domain restricts G1 to S phase progression in cancer cells, in part through control of cyclin D1.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.84, genetic association 0.00, somatic mutation 0.91). IntOGen calls it a driver in 5 cohorts (3 activating, 2 loss-of-function), covering Basal Cell Carcinoma, Melanoma, Cutaneous Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9323","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9323"},{"label":"UniProt O00743","url":"https://www.uniprot.org/uniprotkb/O00743/entry"},{"label":"NCBI Gene 5537","url":"https://www.ncbi.nlm.nih.gov/gene/5537"},{"label":"Ensembl ENSG00000119414","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119414"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","melanoma","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PPP6C","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9323","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9323","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00743","url":"https://www.uniprot.org/uniprotkb/O00743/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000119414","url":"https://platform.opentargets.org/target/ENSG00000119414/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: melanoma 0.70, skin cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen PPP6C","url":"https://www.intogen.org/search?gene=PPP6C","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9323","ensembl":"ENSG00000119414","uniprot":"O00743","entrez":"5537","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bastians et al, J. Cell Sci, 1996, \"The novel human protein serine/threonine phosphatase 6 is a functional homologue of budding yeast Sit4p and fission yeast ppe1, which are involved in cell cycle regulation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9013334/","biology":"Catalytic subunit of protein phosphatase 6 (PP6). PP6 is a component of a signalling pathway regulating cell cycle progression in response to IL2 receptor stimulation. N-terminal domain restricts G1 to S phase progression in cancer cells, in part through control of cyclin D1. During mitosis, regulates spindle positioning. Down-regulates MAP3K7 kinase activation of the IL1 signalling pathway by dephosphorylation of MAP3K7. Also participates in the innate immune defense against viruses by desphosphorylating RIGI, an essential step that triggers RIGI-mediated signalling activation. Location: Mitochondrion; Cytoplasm (UniProt). Locus 9q33.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.64 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.70 with melanoma (MONDO_0005105); IntOGen driver in 4 cohorts (MEL, SKCM)","Basal cell carcinoma: IntOGen driver in 1 cohort (BCC)"],"targetClass":"enzyme","prevalence":[]},{"id":"prame","kind":"target","name":"PRAME","aka":[],"tldr":"PRAME is a cancer-testis antigen: a protein normally confined to the testis that about 90% of cutaneous melanomas and substantial fractions of ovarian, lung, endometrial and uveal cancers switch on. Because it sits inside the cell, drugs reach it only as peptide fragments displayed on HLA, through T-cell receptor bispecifics such as brenetafusp and TCR-T cells such as IMA203.","summary":"Preferentially Expressed Antigen in Melanoma is a cancer-testis antigen expressed in ~90% of cutaneous melanomas and in substantial fractions of ovarian, lung, endometrial, and uveal cancers. Intracellular, so reachable only via peptide-HLA recognition: brenetafusp (ImmTAC), IMA203 (Immatics TCR-T, phase 3 in melanoma), and other TCR programmes. PRAME immunohistochemistry is also a diagnostic aid for distinguishing melanoma from naevi.","asOf":"2026-09-07","wikipedia":"https://en.wikipedia.org/wiki/PRAME","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/PRAME"}],"tags":["tcr-target"],"related":[],"cancers":["melanoma","ovarian","nsclc","sarcoma"],"sections":[],"technologies":["t-cell-engager","tcr-t"],"targets":[],"drugs":["brenetafusp","ima203"],"companies":["immunocore","immatics"],"institutions":[],"pathways":[],"terms":["hla-a02-restriction"],"trials":["nct05958121"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PRAME","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Skin Cutaneous Melanoma (TCGA)) and tissue enriched in normal testis, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA PRAME: RNA tissue enriched (testis 102 nTPM); high antibody staining in 1 normal tissue. Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Ovarian cancer, Lung cancer (all types), Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRAME tissue","url":"https://www.proteinatlas.org/ENSG00000185686-PRAME/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PRAME pathology","url":"https://www.proteinatlas.org/ENSG00000185686-PRAME/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185686 associations","url":"https://platform.opentargets.org/target/ENSG00000185686/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9336","ensembl":"ENSG00000185686","uniprot":"P78395","entrez":"23532","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ikeda et al, Immunity, 1997, \"Characterization of an antigen that is recognized on a melanoma showing partial HLA loss by CTL expressing an NK inhibitory receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9047241/","biology":"Represses retinoic acid receptor signalling; drives proliferation and blocks differentiation; presented on HLA class I as peptides such as PRAME 425-433 on A*02:01.","whereFound":["Cutaneous melanoma (~90%)","Uveal melanoma (subset, associated with metastasis)","Ovarian, endometrial, NSCLC, breast (subsets)","Synovial sarcoma"],"targetClass":"other","prevalence":[{"cancerId":"melanoma","pct":"~90","measure":"IHC positivity in cutaneous melanoma","source":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234029/"}]},{"id":"prc1","kind":"target","name":"PRC1","aka":["protein regulator of cytokinesis 1","Protein regulator of cytokinesis 1","ASE1","MAP65"],"tldr":"PRC1 (Protein regulator of cytokinesis 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Key regulator of cytokinesis that cross-links antiparrallel microtubules at an average distance of 35 nM. Essential for controlling the spatiotemporal formation of the midzone and successful cytokinesis. Required for KIF14 localisation to the central spindle and midbody.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.98, animal model 0.53, genetic association 0.75).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9341","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9341"},{"label":"UniProt O43663","url":"https://www.uniprot.org/uniprotkb/O43663/entry"},{"label":"NCBI Gene 9055","url":"https://www.ncbi.nlm.nih.gov/gene/9055"},{"label":"Ensembl ENSG00000198901","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198901"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRC1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9341","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9341","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43663","url":"https://www.uniprot.org/uniprotkb/O43663/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198901","url":"https://platform.opentargets.org/target/ENSG00000198901/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: breast cancer 0.57 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9341","ensembl":"ENSG00000198901","uniprot":"O43663","entrez":"9055","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jiang et al, Mol. Cell, 1998, \"PRC1: a human mitotic spindle-associated CDK substrate protein required for cytokinesis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9885575/","biology":"Key regulator of cytokinesis that cross-links antiparrallel microtubules at an average distance of 35 nM. Essential for controlling the spatiotemporal formation of the midzone and successful cytokinesis. Required for KIF14 localisation to the central spindle and midbody. Required to recruit PLK1 to the spindle. Stimulates PLK1 phosphorylation of RACGAP1 to allow recruitment of ECT2 to the central spindle. Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression. Location: Nucleus; Cytoplasm; Cytoplasm, cytoskeleton, spindle pole; Midbody (UniProt). Locus 15q26.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254)"],"targetClass":"other","prevalence":[]},{"id":"prcc","kind":"target","name":"PRCC","aka":["proline rich mitotic checkpoint control factor","Proline-rich protein PRCC","RCCP1"],"tldr":"PRCC (Proline-rich protein PRCC) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"May regulate cell cycle progression through interaction with MAD2L2.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.23, somatic mutation 0.80).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9343","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9343"},{"label":"UniProt Q92733","url":"https://www.uniprot.org/uniprotkb/Q92733/entry"},{"label":"NCBI Gene 5546","url":"https://www.ncbi.nlm.nih.gov/gene/5546"},{"label":"Ensembl ENSG00000143294","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143294"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct03091192","nct05043090"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRCC","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9343","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9343","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92733","url":"https://www.uniprot.org/uniprotkb/Q92733/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143294","url":"https://platform.opentargets.org/target/ENSG00000143294/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9343","ensembl":"ENSG00000143294","uniprot":"Q92733","entrez":"5546","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sidhar S.K. et al, Hum. Mol. Genet, 1996, \"The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8872474/","biology":"May regulate cell cycle progression through interaction with MAD2L2. Location: Nucleus (UniProt). Locus 1q23.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"prdm1","kind":"target","name":"PRDM1","aka":["PR/SET domain 1","PR domain zinc finger protein 1","PRDI-BF1","Blimp-1","BLIMP1"],"tldr":"PRDM1 (PR domain zinc finger protein 1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Multiple myeloma, Prostate cancer and 5 more.","summary":"Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection. Binds specifically to the PRDI element in the promoter of the beta-interferon gene.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.10, somatic mutation 0.88). IntOGen calls it a driver in 7 cohorts (3 activating, 4 loss-of-function), covering Acute Myeloid Leukaemia, Diffuse Large B-Cell Lymphoma, NOS, Non-Hodgkin Lymphoma, Plasma Cell Myeloma, Prostate.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9346","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9346"},{"label":"UniProt O75626","url":"https://www.uniprot.org/uniprotkb/O75626/entry"},{"label":"NCBI Gene 639","url":"https://www.ncbi.nlm.nih.gov/gene/639"},{"label":"Ensembl ENSG00000057657","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000057657"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma","prostate","skin-cancer","colorectal","ovarian","dlbcl","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRDM1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9346","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9346","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75626","url":"https://www.uniprot.org/uniprotkb/O75626/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRDM1","url":"https://civicdb.org/features/593","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000057657","url":"https://platform.opentargets.org/target/ENSG00000057657/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.52, ovarian cancer 0.50, melanoma 0.55, diffuse large B-cell lymphoma 0.59, non-Hodgkin lymphoma 0.62, skin cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen PRDM1","url":"https://www.intogen.org/search?gene=PRDM1","note":"driver in 7 cohorts (Act 3, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PRDM1: RNA tissue enhanced (esophagus 52 nTPM); blood lineage group enriched (granulocytes 13 nTPM, T-cells 34 nTPM); high antibody staining in 11 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma, Prostate cancer, Skin cancer (all types), Colorectal cancer, Ovarian cancer, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O75626","url":"https://www.uniprot.org/uniprotkb/O75626/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRDM1","url":"https://civicdb.org/features/593","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen PRDM1","url":"https://www.intogen.org/search?gene=PRDM1","note":"driver in 7 cohorts (Act 3, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PRDM1 tissue","url":"https://www.proteinatlas.org/ENSG00000057657-PRDM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000057657 associations","url":"https://platform.opentargets.org/target/ENSG00000057657/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9346","ensembl":"ENSG00000057657","uniprot":"O75626","entrez":"639","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Keller A.D. et al, Genes Dev, 1991, \"Identification and characterization of a novel repressor of beta-interferon gene expression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1851123/","biology":"Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection. Binds specifically to the PRDI element in the promoter of the beta-interferon gene. Drives the maturation of B-lymphocytes into Ig secreting cells. Associates with the transcriptional repressor ZNF683 to chromatin at gene promoter regions. Binds to the promoter and acts as a transcriptional repressor of IRF8, thereby promotes transcription of osteoclast differentiation factors such as NFATC1 and EEIG1. Location: Nucleus; Cytoplasm (UniProt). Locus 6q21 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.62 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (NHL)","Multiple myeloma: IntOGen driver in 2 cohorts (PCM)","Prostate cancer: IntOGen driver in 1 cohort (PROSTATE)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Ovarian cancer: Open Targets association 0.50 with ovarian cancer (MONDO_0008170)"],"targetClass":"transcription","prevalence":[]},{"id":"prdm16","kind":"target","name":"PRDM16","aka":["PR/SET domain 16","Histone-lysine N-methyltransferase PRDM16","MEL1","PFM13","KIAA1675","MGC166915","KMT8F"],"tldr":"PRDM16 (Histone-lysine N-methyltransferase PRDM16) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma, Breast cancer, Neuroendocrine tumours and 4 more.","summary":"Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context. In the cytoplasm, acts as a histone methyltransferase, which catalyses monomethylation of 'Lys-9' of free histone H3 (H3K9me1) during translation. Monomethylated histone H3 is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases (SUV39H1 and SUV39H2) use it as a substrate to catalyse histone H3 'Lys-9' trimethylation (H3K9me3).\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.93, animal model 0.63, genetic association 0.55, somatic mutation 0.83). IntOGen calls it a driver in 1 cohort (0 activating, 0 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14000","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14000"},{"label":"UniProt Q9HAZ2","url":"https://www.uniprot.org/uniprotkb/Q9HAZ2/entry"},{"label":"NCBI Gene 63976","url":"https://www.ncbi.nlm.nih.gov/gene/63976"},{"label":"Ensembl ENSG00000142611","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142611"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["multiple-myeloma","breast-cancer","neuroendocrine","skin-cancer","lung-cancer","sarcoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRDM16","role":["fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14000","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14000","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HAZ2","url":"https://www.uniprot.org/uniprotkb/Q9HAZ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000142611","url":"https://platform.opentargets.org/target/ENSG00000142611/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: melanoma 0.50, sarcoma 0.51, neuroendocrine neoplasm 0.55, skin cancer 0.55, breast cancer 0.56, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen PRDM16","url":"https://www.intogen.org/search?gene=PRDM16","note":"driver in 1 cohort (Act 0, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14000","ensembl":"ENSG00000142611","uniprot":"Q9HAZ2","entrez":"63976","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mochizuki et al, Blood, 2000, \"A novel gene, MEL1, mapped to 1p36.3 is highly homologous to the MDS1/EVI1 gene and is transcriptionally activated in t(1;3)(p36;q21)-positive leukemia cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11050005/","biology":"Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context. In the cytoplasm, acts as a histone methyltransferase, which catalyses monomethylation of 'Lys-9' of free histone H3 (H3K9me1) during translation. Monomethylated histone H3 is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases (SUV39H1 and SUV39H2) use it as a substrate to catalyse histone H3 'Lys-9' trimethylation (H3K9me3). Probably one of the primary histone methyltransferases along with MECOM/PRDM3 that direct cytoplasmic H3K9me1 methylation. In the nucleus, acts as a key chromatin adapter that mediates differentiation of brown and beige adipocytes, which are specialised in dissipating chemical energy in the form of heat in response to cold or excess feeding. Following recruitment to chromatin by PPARG nuclear receptor, promotes differentiation of myoblastic precursors into brown adipose cells. Location: Nucleus; Chromosome; Cytoplasm (UniProt). Locus 1p36.32 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Neuroendocrine tumours: Open Targets association 0.55 with neuroendocrine neoplasm (MONDO_0019496)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Sarcomas: Open Targets association 0.51 with sarcoma (MONDO_0005089)"],"targetClass":"transcription","prevalence":[]},{"id":"prdm2","kind":"target","name":"PRDM2","aka":["PR/SET domain 2","PR domain zinc finger protein 2","RIZ1","RIZ2","KMT8","MTB-ZF","HUMHOXY1","KMT8A"],"tldr":"PRDM2 (PR domain zinc finger protein 2) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Renal cell carcinoma, Neuroblastoma and 1 more.","summary":"S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene.\n\nIntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Hepatocellular Carcinoma, Neuroblastoma, Papillary Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9347","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9347"},{"label":"UniProt Q13029","url":"https://www.uniprot.org/uniprotkb/Q13029/entry"},{"label":"NCBI Gene 7799","url":"https://www.ncbi.nlm.nih.gov/gene/7799"},{"label":"Ensembl ENSG00000116731","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116731"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["hcc","rcc","neuroblastoma","papillary-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRDM2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9347","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9347","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13029","url":"https://www.uniprot.org/uniprotkb/Q13029/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PRDM2","url":"https://www.intogen.org/search?gene=PRDM2","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9347","ensembl":"ENSG00000116731","uniprot":"Q13029","entrez":"7799","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Buyse I.M. et al, Proc. Natl. Acad. Sci. U.S.A, 1995, \"The retinoblastoma protein binds to RIZ, a zinc-finger protein that shares an epitope with the adenovirus E1A protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7538672/","biology":"S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene. Location: Nucleus (UniProt). Locus 1p36.21 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)","Neuroblastoma: IntOGen driver in 1 cohort (NBL)","Papillary renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)"],"targetClass":"transcription","prevalence":[]},{"id":"prex2","kind":"target","name":"PREX2","aka":["phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2","Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein","DEP.2","FLJ12987","P-REX2","PPP1R129","DEPDC2"],"tldr":"PREX2 is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Functions as a RAC1 guanine nucleotide exchange factor (GEF), activating Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. Mediates the activation of RAC1 in a PI3K-dependent manner.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Vemurafenib. Open Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.91, animal model 0.42, genetic association 0.45, somatic mutation 0.82). IntOGen calls it a driver in 13 cohorts (10 activating, 3 loss-of-function), covering Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Colon Adenocarcinoma, Diffuse Large B-Cell Lymphoma, NOS, Oesophageal Adenocarcinoma, Oesophageal Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:22950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22950"},{"label":"UniProt Q70Z35","url":"https://www.uniprot.org/uniprotkb/Q70Z35/entry"},{"label":"NCBI Gene 80243","url":"https://www.ncbi.nlm.nih.gov/gene/80243"},{"label":"Ensembl ENSG00000046889","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000046889"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["esophageal","colorectal","gastric","breast-cancer","urothelial","hcc","ovarian","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 10 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PREX2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:22950","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22950","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q70Z35","url":"https://www.uniprot.org/uniprotkb/Q70Z35/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PREX2","url":"https://civicdb.org/features/15344","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000046889","url":"https://platform.opentargets.org/target/ENSG00000046889/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: colorectal cancer 0.55, gastric cancer 0.51, oesophageal cancer 0.52, melanoma 0.60, skin cancer 0.57, breast cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen PREX2","url":"https://www.intogen.org/search?gene=PREX2","note":"driver in 13 cohorts (Act 10, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PREX2: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining colorectal cancer (9 of 9 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Oesophageal cancer, Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Breast cancer (all types), Bladder & urothelial cancer, Hepatocellular carcinoma, Ovarian cancer and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q70Z35","url":"https://www.uniprot.org/uniprotkb/Q70Z35/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PREX2","url":"https://civicdb.org/features/15344","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"},{"label":"IntOGen PREX2","url":"https://www.intogen.org/search?gene=PREX2","note":"driver in 13 cohorts (Act 10, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PREX2 tissue","url":"https://www.proteinatlas.org/ENSG00000046889-PREX2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000046889 associations","url":"https://platform.opentargets.org/target/ENSG00000046889/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:22950","ensembl":"ENSG00000046889","uniprot":"Q70Z35","entrez":"80243","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Joseph R.E. et al, 2003, \"Cloning and characterization of P-Rex2: an inositol polyphosphate 4-phosphatase domain containing guanine nucleotide exchange factor\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q70Z35/entry","biology":"Functions as a RAC1 guanine nucleotide exchange factor (GEF), activating Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. Mediates the activation of RAC1 in a PI3K-dependent manner. May be an important mediator of Rac signalling, acting directly downstream of both G protein-coupled receptors and phosphoinositide 3-kinase. Locus 8q13.2 (HGNC).","whereFound":["Oesophageal cancer: Open Targets association 0.52 with oesophageal cancer (MONDO_0007576); IntOGen driver in 3 cohorts (ESCA, ESCC)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COAD)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)"],"targetClass":"oncogene","prevalence":[]},{"id":"prf1","kind":"target","name":"PRF1","aka":["perforin 1","Perforin-1","P1","HPLH2"],"tldr":"PRF1 (Perforin-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Non-Hodgkin lymphoma, Leukaemia, Skin cancer and 2 more.","summary":"Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognised as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerise and form large pores.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.91, animal model 0.52, genetic association 0.41, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9360","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9360"},{"label":"UniProt P14222","url":"https://www.uniprot.org/uniprotkb/P14222/entry"},{"label":"NCBI Gene 5551","url":"https://www.ncbi.nlm.nih.gov/gene/5551"},{"label":"Ensembl ENSG00000180644","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000180644"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","leukaemia","skin-cancer","gastric","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRF1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9360","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9360","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14222","url":"https://www.uniprot.org/uniprotkb/P14222/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000180644","url":"https://platform.opentargets.org/target/ENSG00000180644/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: gastric cancer 0.50, melanoma 0.53, non-Hodgkin lymphoma 0.68, skin cancer 0.55, leukaemia 0.63 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9360","ensembl":"ENSG00000180644","uniprot":"P14222","entrez":"5551","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lichtenheld M.G. et al, Nature, 1988, \"Structure and function of human perforin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3419519/","biology":"Pore-forming protein that plays a key role in granzyme-mediated programmed cell death, and in defense against virus-infected or neoplastic cells. Plays an important role in killing other cells that are recognised as non-self by the immune system, e.g. in transplant rejection or some forms of autoimmune disease. Can insert into the membrane of target cells in its calcium-bound form, oligomerise and form large pores. Promotes cytolysis and apoptosis of target cells by mediating the passage and uptake of cytotoxic granzymes. Facilitates the delivery of cationic cargo protein, while anionic or neural proteins are not delivered efficiently. Perforin pores allow the release of mature caspase-7 (CASP7) into the extracellular milieu. Location: Cytolytic granule; Secreted; Cell membrane; Endosome lumen (UniProt). Locus 10q22.1 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.68 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.50 with gastric cancer (MONDO_0001056)","Melanoma: Open Targets association 0.53 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},{"id":"prim1","kind":"target","name":"PRIM1","aka":["DNA primase subunit 1","DNA primase small subunit"],"tldr":"PRIM1 (DNA primase small subunit) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Leukaemia, Non-Hodgkin lymphoma and 5 more.","summary":"Catalytic subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex - primosome/replisome) which play an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.90, affected pathway 0.61, genetic association 0.42, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9369","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9369"},{"label":"UniProt P49642","url":"https://www.uniprot.org/uniprotkb/P49642/entry"},{"label":"NCBI Gene 5557","url":"https://www.ncbi.nlm.nih.gov/gene/5557"},{"label":"Ensembl ENSG00000198056","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198056"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","leukaemia","non-hodgkin-lymphoma","lung-cancer","myeloproliferative-neoplasms","ovarian","mds","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRIM1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9369","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9369","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49642","url":"https://www.uniprot.org/uniprotkb/P49642/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198056","url":"https://platform.opentargets.org/target/ENSG00000198056/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.59, ovarian cancer 0.58, acute myeloid leukaemia 0.59, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.60 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists PRIM1 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PRIM1: RNA tissue enhanced (bone marrow 26 nTPM); no normal tissue stained high; highest cancer staining renal cancer (7 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Leukaemia, Lymphoma, Lung cancer (all types), Myeloid neoplasms, Ovarian cancer); Open Targets associates it with 10 specific cancer types at or above 0.5 (breast cancer, acute lymphoblastic leukemia, non-small cell lung carcinoma, acute myeloid leukemia, B-cell chronic lymphocytic leukemia, exocrine pancreatic carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRIM1 tissue","url":"https://www.proteinatlas.org/ENSG00000198056-PRIM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198056 associations","url":"https://platform.opentargets.org/target/ENSG00000198056/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9369","ensembl":"ENSG00000198056","uniprot":"P49642","entrez":"5557","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stadlbauer et al, Eur. J. Biochem, 1994, \"DNA replication in vitro by recombinant DNA-polymerase-alpha-primase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8026492/","biology":"Catalytic subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex - primosome/replisome) which play an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. In the primase complex, both subunits are necessary for the initial di-nucleotide formation, but the extension of the primer depends only on the catalytic subunit. Synthesises 9-mer RNA primers (also known as the 'unit length' RNA primers). Locus 12q13.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.67 with breast cancer (MONDO_0007254)","Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.59 with lung cancer (MONDO_0008903)","Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)"],"targetClass":"transcription","prevalence":[]},{"id":"prim2","kind":"target","name":"PRIM2","aka":["DNA primase subunit 2","DNA primase large subunit","PRIM2A"],"tldr":"PRIM2 (DNA primase large subunit) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Lung cancer, Leukaemia, Non-Hodgkin lymphoma and 5 more.","summary":"Regulatory subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which play an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.87, affected pathway 0.61, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9370","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9370"},{"label":"UniProt P49643","url":"https://www.uniprot.org/uniprotkb/P49643/entry"},{"label":"NCBI Gene 5558","url":"https://www.ncbi.nlm.nih.gov/gene/5558"},{"label":"Ensembl ENSG00000146143","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000146143"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer","leukaemia","non-hodgkin-lymphoma","myeloproliferative-neoplasms","breast-cancer","ovarian","mds","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRIM2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9370","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9370","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49643","url":"https://www.uniprot.org/uniprotkb/P49643/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000146143","url":"https://platform.opentargets.org/target/ENSG00000146143/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.59, ovarian cancer 0.58, acute myeloid leukaemia 0.59, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.60 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists PRIM2 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PRIM2: RNA tissue enhanced (prostate 30 nTPM); no normal tissue stained high. Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Leukaemia, Lymphoma, Myeloid neoplasms, Breast cancer (all types), Ovarian cancer); Open Targets associates it with 10 specific cancer types at or above 0.5 (acute lymphoblastic leukemia, acute myeloid leukemia, non-small cell lung carcinoma, B-cell chronic lymphocytic leukemia, exocrine pancreatic carcinoma, ovarian carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRIM2 tissue","url":"https://www.proteinatlas.org/ENSG00000146143-PRIM2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000146143 associations","url":"https://platform.opentargets.org/target/ENSG00000146143/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9370","ensembl":"ENSG00000146143","uniprot":"P49643","entrez":"5558","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stadlbauer et al, Eur. J. Biochem, 1994, \"DNA replication in vitro by recombinant DNA-polymerase-alpha-primase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8026492/","biology":"Regulatory subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which play an essential role in the initiation of DNA synthesis. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. In the primase complex, both subunits are necessary for the initial di-nucleotide formation, but the extension of the primer depends only on the catalytic subunit. Binds RNA:DNA duplex and coordinates the catalytic activities of PRIM1 and POLA2 during primase-to-polymerase switch. Locus 6p11.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.62 with lung cancer (MONDO_0008903)","Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)"],"targetClass":"other","prevalence":[]},{"id":"prkaa2","kind":"target","name":"PRKAA2","aka":["protein kinase AMP-activated catalytic subunit alpha 2","5'-AMP-activated protein kinase catalytic subunit alpha-2","AMPKa2","PRKAA"],"tldr":"PRKAA2 (5'-AMP-activated protein kinase catalytic subunit alpha-2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming ACLY SiRNA.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9377","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9377"},{"label":"UniProt P54646","url":"https://www.uniprot.org/uniprotkb/P54646/entry"},{"label":"NCBI Gene 5563","url":"https://www.ncbi.nlm.nih.gov/gene/5563"},{"label":"Ensembl ENSG00000162409","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162409"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["autophagy","lipid-metabolism-cancer"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKAA2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9377","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9377","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54646","url":"https://www.uniprot.org/uniprotkb/P54646/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRKAA2","url":"https://civicdb.org/features/4503","note":"1 evidence items, 0 assertions, 1 variants; diseases: Cancer (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PRKAA2: RNA tissue enhanced (heart muscle 38 nTPM, skeletal muscle 36 nTPM, tongue 34 nTPM); high antibody staining in 3 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PRKAA2 tissue","url":"https://www.proteinatlas.org/ENSG00000162409-PRKAA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162409 associations","url":"https://platform.opentargets.org/target/ENSG00000162409/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9377","ensembl":"ENSG00000162409","uniprot":"P54646","entrez":"5563","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aguan et al, Gene, 1994, \"Characterization and chromosomal localization of the human homologue of a rat AMP-activated protein kinase-encoding gene: a major regulator of lipid metabolism in mammals\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7959015/","biology":"Catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Regulates lipid synthesis by phosphorylating and inactivating lipid metabolic enzymes such as ACACA, ACACB, GYS1, HMGCR and LIPE; regulates fatty acid and cholesterol synthesis by phosphorylating acetyl-CoA carboxylase (ACACA and ACACB) and hormone-sensitive lipase (LIPE) enzymes, respectively. Promotes lipolysis of lipid droplets by mediating phosphorylation of isoform 1 of CHKA (CHKalpha2). Regulates insulin-signalling and glycolysis by phosphorylating IRS1, PFKFB2 and PFKFB3. Location: Cytoplasm; Nucleus; Late endosome (UniProt). Locus 1p32.2 (HGNC).","whereFound":[],"targetClass":"kinase","prevalence":[]},{"id":"prkaca","kind":"target","name":"PRKACA","aka":["protein kinase cAMP-activated catalytic subunit alpha","cAMP-dependent protein kinase catalytic subunit alpha","PKACa"],"tldr":"PRKACA (cAMP-dependent protein kinase catalytic subunit alpha) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. In the public catalogues the evidence so far is association rather than a proven role. Tied to Hepatocellular carcinoma.","summary":"Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, histone H1.4 (H1-4), PSMC5/RPT6, PJA2, RYR2, RORA, SLC6A6, SOX9, UHRF1 and VASP. Regulates the abundance of compartmentalised pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.00, somatic mutation 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9380","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9380"},{"label":"UniProt P17612","url":"https://www.uniprot.org/uniprotkb/P17612/entry"},{"label":"NCBI Gene 5566","url":"https://www.ncbi.nlm.nih.gov/gene/5566"},{"label":"Ensembl ENSG00000072062","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072062"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKACA","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9380","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9380","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P17612","url":"https://www.uniprot.org/uniprotkb/P17612/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000072062","url":"https://platform.opentargets.org/target/ENSG00000072062/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: hepatocellular carcinoma 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9380","ensembl":"ENSG00000072062","uniprot":"P17612","entrez":"5566","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Maldonado et al, Nucleic Acids Res, 1988, \"A cDNA clone encoding human cAMP-dependent protein kinase catalytic subunit C alpha\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2843813/","biology":"Phosphorylates a large number of substrates in the cytoplasm and the nucleus. Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, histone H1.4 (H1-4), PSMC5/RPT6, PJA2, RYR2, RORA, SLC6A6, SOX9, UHRF1 and VASP. Regulates the abundance of compartmentalised pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis. RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts. Involved in chondrogenesis by mediating phosphorylation of SOX9. Location: Cytoplasm; Cell membrane; Membrane; Nucleus (UniProt). Locus 19p13.12 (HGNC).","whereFound":["Hepatocellular carcinoma: Open Targets association 0.51 with hepatocellular carcinoma (MONDO_0007256)"],"targetClass":"kinase","prevalence":[]},{"id":"prkar1a","kind":"target","name":"PRKAR1A","aka":["protein kinase cAMP-dependent type I regulatory subunit alpha","cAMP-dependent protein kinase type I-alpha regulatory subunit","CNC1","PRKAR1","TSE1","PKR1","Prkar1alpha"],"tldr":"PRKAR1A (cAMP-dependent protein kinase type I-alpha regulatory subunit) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Adrenocortical carcinoma, Thyroid cancer, Renal cell carcinoma and 2 more.","summary":"Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signalling in cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.85, affected pathway 0.83, literature 0.86, genetic association 0.01, somatic mutation 0.85, animal model 0.73). IntOGen calls it a driver in 4 cohorts (2 activating, 2 loss-of-function), covering Adrenocortical Carcinoma, Medulloblastoma, Pilocytic Astrocytoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9388","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9388"},{"label":"UniProt P10644","url":"https://www.uniprot.org/uniprotkb/P10644/entry"},{"label":"NCBI Gene 5573","url":"https://www.ncbi.nlm.nih.gov/gene/5573"},{"label":"Ensembl ENSG00000108946","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108946"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["adrenocortical","thyroid","rcc","medulloblastoma","paediatric-low-grade-glioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Melanotic Neurilemmoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKAR1A","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9388","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9388","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10644","url":"https://www.uniprot.org/uniprotkb/P10644/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRKAR1A","url":"https://civicdb.org/features/4511","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanotic Neurilemmoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000108946","url":"https://platform.opentargets.org/target/ENSG00000108946/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: renal cell carcinoma 0.52, thyroid cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen PRKAR1A","url":"https://www.intogen.org/search?gene=PRKAR1A","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PRKAR1A: RNA low tissue specificity; no normal tissue stained high; highest cancer staining melanoma (1 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Adrenocortical carcinoma, Thyroid cancer, Renal cell carcinoma, Brain and spinal cord tumours (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (familial atrial myxoma, hereditary neoplastic syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P10644","url":"https://www.uniprot.org/uniprotkb/P10644/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRKAR1A","url":"https://civicdb.org/features/4511","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanotic Neurilemmoma (GraphQL API, CC0)"},{"label":"IntOGen PRKAR1A","url":"https://www.intogen.org/search?gene=PRKAR1A","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PRKAR1A tissue","url":"https://www.proteinatlas.org/ENSG00000108946-PRKAR1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108946 associations","url":"https://platform.opentargets.org/target/ENSG00000108946/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9388","ensembl":"ENSG00000108946","uniprot":"P10644","entrez":"5573","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sandberg et al, Biochem. Biophys. Res. Commun, 1987, \"Molecular cloning, cDNA structure and deduced amino acid sequence for a type I regulatory subunit of cAMP-dependent protein kinase from human testis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3426618/","biology":"Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signalling in cells. Location: Cell membrane (UniProt). Locus 17q24.2 (HGNC).","whereFound":["Adrenocortical carcinoma: IntOGen driver in 1 cohort (ACC)","Thyroid cancer: Open Targets association 0.54 with thyroid cancer (MONDO_0002108)","Renal cell carcinoma: Open Targets association 0.52 with renal cell carcinoma (MONDO_0005086)","Medulloblastoma: IntOGen driver in 2 cohorts (MBL)","Paediatric low-grade glioma: IntOGen driver in 1 cohort (PAST)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"prkcb","kind":"target","name":"PRKCB","aka":["protein kinase C beta","Protein kinase C beta type","PKCβ","PRKCB2","PRKCB1"],"tldr":"PRKCB (Protein kinase C beta type) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Head and neck squamous cell carcinoma and 5 more.","summary":"Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis, androgen receptor-dependent transcription regulation, insulin signalling and endothelial cells proliferation. Plays a key role in B-cell activation by regulating BCR-induced NF-kappa-B activation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11/CARMA1 at 'Ser-559', 'Ser-644' and 'Ser-652'.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.86, genetic association 0.00, somatic mutation 0.45, clinical 0.92). IntOGen calls it a driver in 4 cohorts (4 activating, 0 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Head and Neck Squamous Cell Carcinoma, Prostate Adenocarcinoma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9395","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9395"},{"label":"UniProt P05771","url":"https://www.uniprot.org/uniprotkb/P05771/entry"},{"label":"NCBI Gene 5579","url":"https://www.ncbi.nlm.nih.gov/gene/5579"},{"label":"Ensembl ENSG00000166501","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166501"},{"label":"Davis et al., Nature 2010: chronic active B-cell receptor signalling in diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/nature08638"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","head-and-neck","prostate","gastric","systemic-mastocytosis","aml","dlbcl","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","inflammation-nfkb"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94; IntOGen calls it an activating (Act) driver in 4 cohorts; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Adult T-cell Leukaemia/lymphoma.","Lymphoma, Chronic active B-cell receptor signalling, and BTK: The B-cell receptor normally signals only when it meets antigen. In activated B-cell-like lymphoma it signals continuously: the receptors cluster in the membrane and diffuse slowly, exactly as they do in an antigen-stimulated normal B cell, and knocking down IgM, Ig-kappa, CD79A, CD79B or BTK kills the cell. The signal runs CD79a/b to SYK to BTK to PLC-gamma-2 to protein kinase C beta to the CARD11-BCL10-MALT1 complex and into NF-kB. Mutations of the ITAM module of CD79B raise surface receptor expression and blunt LYN, the feedback brake (Davis 2010). Frequency: Mutations of the first ITAM tyrosine of CD79B in 18% of activated B-cell-like cases, frequent in that subtype and rare in other diffuse large B-cell lymphomas, absent from Burkitt and MALT lymphoma; activating CARD11 mutations in roughly 10% of activated B-cell-like cases (Davis 2010). What it changes about treatment: This is the one pathway in lymphoma where the biology picks the drug today. BTK inhibitors are standard in mantle cell lymphoma and Waldenstrom macroglobulinaemia and have activity in primary CNS lymphoma and in the MCD genetic subtype of diffuse large B-cell lymphoma; they do little in germinal-centre disease."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKCB","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9395","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9395","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P05771","url":"https://www.uniprot.org/uniprotkb/P05771/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRKCB","url":"https://civicdb.org/features/4517","note":"3 evidence items, 0 assertions, 2 variants; diseases: Adult T-cell Leukaemia/lymphoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000166501","url":"https://platform.opentargets.org/target/ENSG00000166501/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.60, myeloproliferative neoplasm 0.60, systemic mastocytosis 0.54, leukaemia 0.65 (GraphQL API, CC0)"},{"label":"IntOGen PRKCB","url":"https://www.intogen.org/search?gene=PRKCB","note":"driver in 4 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PRKCB: RNA tissue enhanced (brain 105 nTPM, lymphoid tissue 44 nTPM); high antibody staining in 3 normal tissues; highest cancer staining breast cancer (6 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Head and neck squamous cell carcinoma, Prostate cancer, Gastric & gastro-oesophageal junction cancer, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P05771","url":"https://www.uniprot.org/uniprotkb/P05771/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRKCB","url":"https://civicdb.org/features/4517","note":"3 evidence items, 0 assertions, 2 variants; diseases: Adult T-cell Leukaemia/lymphoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen PRKCB","url":"https://www.intogen.org/search?gene=PRKCB","note":"driver in 4 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PRKCB tissue","url":"https://www.proteinatlas.org/ENSG00000166501-PRKCB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000166501 associations","url":"https://platform.opentargets.org/target/ENSG00000166501/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9395","ensembl":"ENSG00000166501","uniprot":"P05771","entrez":"5579","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Coussens et al, Science, 1986, \"Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3755548/","biology":"Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase involved in various cellular processes such as regulation of the B-cell receptor (BCR) signalosome, oxidative stress-induced apoptosis, androgen receptor-dependent transcription regulation, insulin signalling and endothelial cells proliferation. Plays a key role in B-cell activation by regulating BCR-induced NF-kappa-B activation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11/CARMA1 at 'Ser-559', 'Ser-644' and 'Ser-652'. Phosphorylation induces CARD11/CARMA1 association with lipid rafts and recruitment of the BCL10-MALT1 complex as well as MAP3K7/TAK1, which then activates IKK complex, resulting in nuclear translocation and activation of NFKB1. Plays a direct role in the negative feedback regulation of the BCR signalling, by down-modulating BTK function via direct phosphorylation of BTK at 'Ser-180', which results in the alteration of BTK plasma membrane localisation and in turn inhibition of BTK activity. Involved in apoptosis following oxidative damage: in case of oxidative conditions, specifically phosphorylates 'Ser-36' of isoform p66Shc of SHC1, leading to mitochondrial accumulation of p66Shc, where p66Shc acts as a reactive oxygen species producer. Location: Cytoplasm; Nucleus; Membrane (UniProt). Locus 16p12.2-p12.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.65 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.60 with myeloproliferative neoplasm (MONDO_0020076)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)"],"targetClass":"kinase","prevalence":[]},{"id":"prkcd","kind":"target","name":"PRKCD","aka":["protein kinase C delta","Protein kinase C delta type"],"tldr":"PRKCD (Protein kinase C delta type) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a tumour suppressor, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 2 more.","summary":"Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti-apoptotic protein during cytokine receptor-initiated cell death, is involved in tumour suppression as well as survival of several cancers, is required for oxygen radical production by NADPH oxidase and acts as positive or negative regulator in platelet functional responses. Negatively regulates B cell proliferation and also has an important function in self-antigen induced B cell tolerance induction. Upon DNA damage, activates the promoter of the death-promoting transcription factor BCLAF1/Btf to trigger BCLAF1-mediated p53/TP53 gene transcription and apoptosis.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, clinical 0.92). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9399","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9399"},{"label":"UniProt Q05655","url":"https://www.uniprot.org/uniprotkb/Q05655/entry"},{"label":"NCBI Gene 5580","url":"https://www.ncbi.nlm.nih.gov/gene/5580"},{"label":"Ensembl ENSG00000163932","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163932"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","non-hodgkin-lymphoma","systemic-mastocytosis","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKCD","role":["drug-target","tumour-suppressor"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9399","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9399","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q05655","url":"https://www.uniprot.org/uniprotkb/Q05655/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163932","url":"https://platform.opentargets.org/target/ENSG00000163932/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.57, myeloproliferative neoplasm 0.58, systemic mastocytosis 0.54, leukaemia 0.59 (GraphQL API, CC0)"},{"label":"IntOGen PRKCD","url":"https://www.intogen.org/search?gene=PRKCD","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PRKCD: RNA low tissue specificity; blood lineage group enriched (dendritic cells 55 nTPM, granulocytes 50 nTPM, monocytes 72 nTPM); high antibody staining in 16 normal tissues; highest cancer staining thyroid cancer (4 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (autoimmune lymphoproliferative syndrome, acute myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q05655","url":"https://www.uniprot.org/uniprotkb/Q05655/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PRKCD","url":"https://www.intogen.org/search?gene=PRKCD","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PRKCD tissue","url":"https://www.proteinatlas.org/ENSG00000163932-PRKCD/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163932 associations","url":"https://platform.opentargets.org/target/ENSG00000163932/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9399","ensembl":"ENSG00000163932","uniprot":"Q05655","entrez":"5580","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aris J.P. et al, Biochim. Biophys. Acta, 1993, \"Molecular and biochemical characterization of a recombinant human PKC-delta family member\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8357834/","biology":"Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays contrasting roles in cell death and cell survival by functioning as a pro-apoptotic protein during DNA damage-induced apoptosis, but acting as an anti-apoptotic protein during cytokine receptor-initiated cell death, is involved in tumour suppression as well as survival of several cancers, is required for oxygen radical production by NADPH oxidase and acts as positive or negative regulator in platelet functional responses. Negatively regulates B cell proliferation and also has an important function in self-antigen induced B cell tolerance induction. Upon DNA damage, activates the promoter of the death-promoting transcription factor BCLAF1/Btf to trigger BCLAF1-mediated p53/TP53 gene transcription and apoptosis. In response to oxidative stress, interact with and activate CHUK/IKKA in the nucleus, causing the phosphorylation of p53/TP53. In the case of ER stress or DNA damage-induced apoptosis, can form a complex with the tyrosine-protein kinase ABL1 which trigger apoptosis independently of p53/TP53. In cytosol can trigger apoptosis by activating MAPK11 or MAPK14, inhibiting AKT1 and decreasing the level of X-linked inhibitor of apoptosis protein (XIAP), whereas in nucleus induces apoptosis via the activation of MAPK8 or MAPK9. Location: Cytoplasm; Cytoplasm, perinuclear region; Nucleus; Cell membrane (UniProt). Locus 3p21.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.59 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.58 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (NHL)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)","Acute myeloid leukaemia: Open Targets association 0.57 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"kinase","prevalence":[]},{"id":"prkce","kind":"target","name":"PRKCE","aka":["protein kinase C epsilon","Protein kinase C epsilon type"],"tldr":"PRKCE (Protein kinase C epsilon type) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Systemic mastocytosis and 1 more.","summary":"Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signalling, by mediating angiotensin-2-induced activation of integrin beta-1 (ITGB1) in cardiac fibroblasts. Phosphorylates MARCKS, which phosphorylates and activates PTK2/FAK, leading to the spread of cardiomyocytes.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.45, clinical 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9401","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9401"},{"label":"UniProt Q02156","url":"https://www.uniprot.org/uniprotkb/Q02156/entry"},{"label":"NCBI Gene 5581","url":"https://www.ncbi.nlm.nih.gov/gene/5581"},{"label":"Ensembl ENSG00000171132","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171132"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","systemic-mastocytosis","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKCE","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9401","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9401","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02156","url":"https://www.uniprot.org/uniprotkb/Q02156/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171132","url":"https://platform.opentargets.org/target/ENSG00000171132/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.58, myeloproliferative neoplasm 0.58, systemic mastocytosis 0.54, leukaemia 0.59 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PRKCE: RNA tissue enhanced (brain 29 nTPM); high antibody staining in 2 normal tissues. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PRKCE tissue","url":"https://www.proteinatlas.org/ENSG00000171132-PRKCE/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171132 associations","url":"https://platform.opentargets.org/target/ENSG00000171132/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9401","ensembl":"ENSG00000171132","uniprot":"Q02156","entrez":"5581","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Basta et al, Biochim. Biophys. Acta, 1992, \"Sequence and expression of human protein kinase C-epsilon\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1382605/","biology":"Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays essential roles in the regulation of multiple cellular processes linked to cytoskeletal proteins, such as cell adhesion, motility, migration and cell cycle, functions in neuron growth and ion channel regulation, and is involved in immune response, cancer cell invasion and regulation of apoptosis. Mediates cell adhesion to the extracellular matrix via integrin-dependent signalling, by mediating angiotensin-2-induced activation of integrin beta-1 (ITGB1) in cardiac fibroblasts. Phosphorylates MARCKS, which phosphorylates and activates PTK2/FAK, leading to the spread of cardiomyocytes. Involved in the control of the directional transport of ITGB1 in mesenchymal cells by phosphorylating vimentin (VIM), an intermediate filament (IF) protein. In epithelial cells, associates with and phosphorylates keratin-8 (KRT8), which induces targeting of desmoplakin at desmosomes and regulates cell-cell contact. Phosphorylates IQGAP1, which binds to CDC42, mediating epithelial cell-cell detachment prior to migration. Location: Cytoplasm; Cytoplasm, cytoskeleton; Cell membrane; Cytoplasm, perinuclear region (UniProt). Locus 2p21 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.59 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.58 with myeloproliferative neoplasm (MONDO_0020076)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)","Acute myeloid leukaemia: Open Targets association 0.58 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"kinase","prevalence":[]},{"id":"prkcg","kind":"target","name":"PRKCG","aka":["protein kinase C gamma","Protein kinase C gamma type","MGC57564","PKCγ","SCA14"],"tldr":"PRKCG (Protein kinase C gamma type) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Systemic mastocytosis and 1 more.","summary":"Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation of receptors and neuronal functions related to sensitivity to opiates, pain and alcohol, mediation of synaptic function and cell survival after ischemia, and inhibition of gap junction activity after oxidative stress. Binds and phosphorylates GRIA4/GLUR4 glutamate receptor and regulates its function by increasing plasma membrane-associated GRIA4 expression. In primary cerebellar neurons treated with the agonist 3,5-dihyidroxyphenylglycine, functions downstream of the metabotropic glutamate receptor GRM5/MGLUR5 and phosphorylates GRIN1/NMDAR1 receptor which plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.89, animal model 0.47, genetic association 0.00, clinical 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9402","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9402"},{"label":"UniProt P05129","url":"https://www.uniprot.org/uniprotkb/P05129/entry"},{"label":"NCBI Gene 5582","url":"https://www.ncbi.nlm.nih.gov/gene/5582"},{"label":"Ensembl ENSG00000126583","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126583"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","systemic-mastocytosis","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKCG","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9402","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9402","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P05129","url":"https://www.uniprot.org/uniprotkb/P05129/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000126583","url":"https://platform.opentargets.org/target/ENSG00000126583/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.56, myeloproliferative neoplasm 0.56, systemic mastocytosis 0.54, leukaemia 0.57 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PRKCG: RNA tissue enriched (brain 50 nTPM); high antibody staining in 2 normal tissues. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PRKCG tissue","url":"https://www.proteinatlas.org/ENSG00000126583-PRKCG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000126583 associations","url":"https://platform.opentargets.org/target/ENSG00000126583/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9402","ensembl":"ENSG00000126583","uniprot":"P05129","entrez":"5582","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Coussens et al, Science, 1986, \"Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3755548/","biology":"Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that plays diverse roles in neuronal cells and eye tissues, such as regulation of the neuronal receptors GRIA4/GLUR4 and GRIN1/NMDAR1, modulation of receptors and neuronal functions related to sensitivity to opiates, pain and alcohol, mediation of synaptic function and cell survival after ischemia, and inhibition of gap junction activity after oxidative stress. Binds and phosphorylates GRIA4/GLUR4 glutamate receptor and regulates its function by increasing plasma membrane-associated GRIA4 expression. In primary cerebellar neurons treated with the agonist 3,5-dihyidroxyphenylglycine, functions downstream of the metabotropic glutamate receptor GRM5/MGLUR5 and phosphorylates GRIN1/NMDAR1 receptor which plays a key role in synaptic plasticity, synaptogenesis, excitotoxicity, memory acquisition and learning. May be involved in the regulation of hippocampal long-term potentiation (LTP), but may be not necessary for the process of synaptic plasticity. May be involved in desensitisation of mu-type opioid receptor-mediated G protein activation in the spinal cord, and may be critical for the development and/or maintenance of morphine-induced reinforcing effects in the limbic forebrain. May modulate the functionality of mu-type-opioid receptors by participating in a signalling pathway which leads to the phosphorylation and degradation of opioid receptors. Location: Cytoplasm; Cytoplasm, perinuclear region; Cell membrane; Synapse, synaptosome (UniProt). Locus 19q13.42 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.56 with myeloproliferative neoplasm (MONDO_0020076)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)","Acute myeloid leukaemia: Open Targets association 0.56 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"kinase","prevalence":[]},{"id":"prkch","kind":"target","name":"PRKCH","aka":["protein kinase C eta","PRKCH upstream open reading frame 2","PKC-L","PRKCL"],"tldr":"PRKCH (PRKCH upstream open reading frame 2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Systemic mastocytosis and 1 more.","summary":"Product of an upstream open reading frame (ORF) of PRKCH which regulates translation of the downstream protein kinase C eta (PKC-eta) ORF. Functions as a repressive element that maintains low basal levels of PKC-eta in growing cells but enhances its expression during stress conditions induced by amino acid starvation in a EIF2AK4/GCN2-dependent manner. In addition to its role in regulating PKC-eta translation, also inhibits the kinase activity of PKC-eta as well as other protein kinases including PRKCD, PRKCQ and PRKCE but not PRKCA, PRKCG or PRKCZ.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes clinical 0.92, affected pathway 0.76, literature 0.92, genetic association 0.07, animal model 0.42).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9403","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9403"},{"label":"UniProt C0HM02","url":"https://www.uniprot.org/uniprotkb/C0HM02/entry"},{"label":"NCBI Gene 5583","url":"https://www.ncbi.nlm.nih.gov/gene/5583"},{"label":"Ensembl ENSG00000027075","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000027075"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","systemic-mastocytosis","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKCH","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9403","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9403","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt C0HM02","url":"https://www.uniprot.org/uniprotkb/C0HM02/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000027075","url":"https://platform.opentargets.org/target/ENSG00000027075/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.56, myeloproliferative neoplasm 0.62, systemic mastocytosis 0.54, leukaemia 0.63 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PRKCH: RNA low tissue specificity; blood lineage group enriched (NK-cells 113 nTPM, T-cells 136 nTPM); high antibody staining in 19 normal tissues; highest cancer staining stomach cancer (2 of 8 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRKCH tissue","url":"https://www.proteinatlas.org/ENSG00000027075-PRKCH/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000027075 associations","url":"https://platform.opentargets.org/target/ENSG00000027075/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9403","ensembl":"ENSG00000027075","uniprot":"C0HM02","entrez":"5583","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Heilig et al, Nature, 2003, \"The DNA sequence and analysis of human chromosome 14\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12508121/","biology":"Product of an upstream open reading frame (ORF) of PRKCH which regulates translation of the downstream protein kinase C eta (PKC-eta) ORF. Functions as a repressive element that maintains low basal levels of PKC-eta in growing cells but enhances its expression during stress conditions induced by amino acid starvation in a EIF2AK4/GCN2-dependent manner. In addition to its role in regulating PKC-eta translation, also inhibits the kinase activity of PKC-eta as well as other protein kinases including PRKCD, PRKCQ and PRKCE but not PRKCA, PRKCG or PRKCZ. Locus 14q23.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.63 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.62 with myeloproliferative neoplasm (MONDO_0020076)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)","Acute myeloid leukaemia: Open Targets association 0.56 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"other","prevalence":[]},{"id":"prkci","kind":"target","name":"PRKCI","aka":["protein kinase C iota","Protein kinase C iota type","DXS1179E"],"tldr":"PRKCI (Protein kinase C iota type) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Systemic mastocytosis and 1 more.","summary":"Calcium- and diacylglycerol-independent serine/ threonine-protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukaemia cells, protecting leukaemia cells against drug-induced apoptosis. In cultured neurons, prevents amyloid beta protein-induced apoptosis by interrupting cell death process at a very early step.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.54, clinical 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9404","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9404"},{"label":"UniProt P41743","url":"https://www.uniprot.org/uniprotkb/P41743/entry"},{"label":"NCBI Gene 5584","url":"https://www.ncbi.nlm.nih.gov/gene/5584"},{"label":"Ensembl ENSG00000163558","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163558"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","systemic-mastocytosis","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKCI","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9404","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9404","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P41743","url":"https://www.uniprot.org/uniprotkb/P41743/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163558","url":"https://platform.opentargets.org/target/ENSG00000163558/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.56, myeloproliferative neoplasm 0.56, systemic mastocytosis 0.54, leukaemia 0.57 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PRKCI: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining ovarian cancer (4 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRKCI tissue","url":"https://www.proteinatlas.org/ENSG00000163558-PRKCI/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163558 associations","url":"https://platform.opentargets.org/target/ENSG00000163558/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9404","ensembl":"ENSG00000163558","uniprot":"P41743","entrez":"5584","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Selbie L.A. et al, J. Biol. Chem, 1993, \"Molecular cloning and characterization of PKC iota, an atypical isoform of protein kinase C derived from insulin-secreting cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8226978/","biology":"Calcium- and diacylglycerol-independent serine/ threonine-protein kinase that plays a general protective role against apoptotic stimuli, is involved in NF-kappa-B activation, cell survival, differentiation and polarity, and contributes to the regulation of microtubule dynamics in the early secretory pathway. Is necessary for BCR-ABL oncogene-mediated resistance to apoptotic drug in leukaemia cells, protecting leukaemia cells against drug-induced apoptosis. In cultured neurons, prevents amyloid beta protein-induced apoptosis by interrupting cell death process at a very early step. In glioblastoma cells, may function downstream of phosphatidylinositol 3-kinase (PI(3)K) and PDPK1 in the promotion of cell survival by phosphorylating and inhibiting the pro-apoptotic factor BAD. Can form a protein complex in non-small cell lung cancer (NSCLC) cells with PARD6A and ECT2 and regulate ECT2 oncogenic activity by phosphorylation, which in turn promotes transformed growth and invasion. In response to nerve growth factor (NGF), acts downstream of SRC to phosphorylate and activate IRAK1, allowing the subsequent activation of NF-kappa-B and neuronal cell survival. Location: Cytoplasm; Membrane; Endosome; Nucleus (UniProt). Locus 3q26.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.56 with myeloproliferative neoplasm (MONDO_0020076)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)","Acute myeloid leukaemia: Open Targets association 0.56 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"kinase","prevalence":[]},{"id":"prkcq","kind":"target","name":"PRKCQ","aka":["protein kinase C theta","Protein kinase C theta type"],"tldr":"PRKCQ (Protein kinase C theta type) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Systemic mastocytosis and 1 more.","summary":"Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that mediates non-redundant functions in T-cell receptor (TCR) signalling, including T-cells activation, proliferation, differentiation and survival, by mediating activation of multiple transcription factors such as NF-kappa-B, JUN, NFATC1 and NFATC2. In TCR-CD3/CD28-co-stimulated T-cells, is required for the activation of NF-kappa-B and JUN, which in turn are essential for IL2 production, and participates in the calcium-dependent NFATC1 and NFATC2 transactivation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11 on several serine residues, inducing CARD11 association with lipid rafts and recruitment of the BCL10-MALT1 complex, which then activates IKK complex, resulting in nuclear translocation and activation of NFKB1.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.93, animal model 0.80, genetic association 0.17, clinical 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9410","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9410"},{"label":"UniProt Q04759","url":"https://www.uniprot.org/uniprotkb/Q04759/entry"},{"label":"NCBI Gene 5588","url":"https://www.ncbi.nlm.nih.gov/gene/5588"},{"label":"Ensembl ENSG00000065675","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000065675"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","systemic-mastocytosis","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKCQ","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9410","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9410","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q04759","url":"https://www.uniprot.org/uniprotkb/Q04759/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000065675","url":"https://platform.opentargets.org/target/ENSG00000065675/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.56, myeloproliferative neoplasm 0.56, systemic mastocytosis 0.54, leukaemia 0.57 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PRKCQ: RNA group enriched (lymphoid tissue 31 nTPM, skeletal muscle 115 nTPM, tongue 105 nTPM); blood lineage group enriched (NK-cells 13 nTPM, T-cells 40 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PRKCQ tissue","url":"https://www.proteinatlas.org/ENSG00000065675-PRKCQ/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000065675 associations","url":"https://platform.opentargets.org/target/ENSG00000065675/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9410","ensembl":"ENSG00000065675","uniprot":"Q04759","entrez":"5588","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chang J.D. et al, J. Biol. Chem, 1993, \"Molecular cloning and expression of a cDNA encoding a novel isoenzyme of protein kinase C (nPKC). A new member of the nPKC family expressed in skeletal muscle, megakaryoblastic cells, and platelets\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7686153/","biology":"Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that mediates non-redundant functions in T-cell receptor (TCR) signalling, including T-cells activation, proliferation, differentiation and survival, by mediating activation of multiple transcription factors such as NF-kappa-B, JUN, NFATC1 and NFATC2. In TCR-CD3/CD28-co-stimulated T-cells, is required for the activation of NF-kappa-B and JUN, which in turn are essential for IL2 production, and participates in the calcium-dependent NFATC1 and NFATC2 transactivation. Mediates the activation of the canonical NF-kappa-B pathway (NFKB1) by direct phosphorylation of CARD11 on several serine residues, inducing CARD11 association with lipid rafts and recruitment of the BCL10-MALT1 complex, which then activates IKK complex, resulting in nuclear translocation and activation of NFKB1. May also play an indirect role in activation of the non-canonical NF-kappa-B (NFKB2) pathway. In the signalling pathway leading to JUN activation, acts by phosphorylating the mediator STK39/SPAK and may not act through MAP kinases signalling. Plays a critical role in TCR/CD28-induced NFATC1 and NFATC2 transactivation by participating in the regulation of reduced inositol 1,4,5-trisphosphate generation and intracellular calcium mobilisation. Location: Cytoplasm; Cell membrane (UniProt). Locus 10p15.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.56 with myeloproliferative neoplasm (MONDO_0020076)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)","Acute myeloid leukaemia: Open Targets association 0.56 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"kinase","prevalence":[]},{"id":"prkcz","kind":"target","name":"PRKCZ","aka":["protein kinase C zeta","Protein kinase C zeta type","PKC2"],"tldr":"PRKCZ (Protein kinase C zeta type) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Systemic mastocytosis and 1 more.","summary":"Calcium- and diacylglycerol-independent serine/threonine-protein kinase that functions in phosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activated protein (MAP) kinase cascade, and is involved in NF-kappa-B activation, mitogenic signalling, cell proliferation, cell polarity, inflammatory response and maintenance of long-term potentiation (LTP). Upon lipopolysaccharide (LPS) treatment in macrophages, or following mitogenic stimuli, functions downstream of PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signalling cascade independently of RAF1 activation. Required for insulin-dependent activation of AKT3, but may function as an adapter rather than a direct activator.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.93, animal model 0.32, genetic association 0.37, clinical 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9412","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9412"},{"label":"UniProt Q05513","url":"https://www.uniprot.org/uniprotkb/Q05513/entry"},{"label":"NCBI Gene 5590","url":"https://www.ncbi.nlm.nih.gov/gene/5590"},{"label":"Ensembl ENSG00000067606","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000067606"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","systemic-mastocytosis","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKCZ","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9412","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9412","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q05513","url":"https://www.uniprot.org/uniprotkb/Q05513/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000067606","url":"https://platform.opentargets.org/target/ENSG00000067606/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.56, myeloproliferative neoplasm 0.56, systemic mastocytosis 0.54, leukaemia 0.57 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PRKCZ: RNA tissue enhanced (brain 137 nTPM); blood lineage lineage enriched (granulocytes 16 nTPM); high antibody staining in 2 normal tissues; highest cancer staining melanoma (1 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PRKCZ tissue","url":"https://www.proteinatlas.org/ENSG00000067606-PRKCZ/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000067606 associations","url":"https://platform.opentargets.org/target/ENSG00000067606/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9412","ensembl":"ENSG00000067606","uniprot":"Q05513","entrez":"5590","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Barbee J.L. et al, Gene, 1993, \"The cDNA sequence encoding human protein kinase C-zeta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8224878/","biology":"Calcium- and diacylglycerol-independent serine/threonine-protein kinase that functions in phosphatidylinositol 3-kinase (PI3K) pathway and mitogen-activated protein (MAP) kinase cascade, and is involved in NF-kappa-B activation, mitogenic signalling, cell proliferation, cell polarity, inflammatory response and maintenance of long-term potentiation (LTP). Upon lipopolysaccharide (LPS) treatment in macrophages, or following mitogenic stimuli, functions downstream of PI3K to activate MAP2K1/MEK1-MAPK1/ERK2 signalling cascade independently of RAF1 activation. Required for insulin-dependent activation of AKT3, but may function as an adapter rather than a direct activator. Upon insulin treatment may act as a downstream effector of PI3K and contribute to the activation of translocation of the glucose transporter SLC2A4/GLUT4 and subsequent glucose transport in adipocytes. In EGF-induced cells, binds and activates MAP2K5/MEK5-MAPK7/ERK5 independently of its kinase activity and can activate JUN promoter through MEF2C. Through binding with SQSTM1/p62, functions in interleukin-1 signalling and activation of NF-kappa-B with the specific adapters RIPK1 and TRAF6. Location: Cytoplasm; Endosome; Cell junction; Membrane (UniProt). Locus 1p36.33 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.56 with myeloproliferative neoplasm (MONDO_0020076)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)","Acute myeloid leukaemia: Open Targets association 0.56 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"kinase","prevalence":[]},{"id":"prkd1","kind":"target","name":"PRKD1","aka":["protein kinase D1","Serine/threonine-protein kinase D1","PKD1","PKC-mu","PRKCM"],"tldr":"PRKD1 (Serine/threonine-protein kinase D1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver and a tumour suppressor, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Colorectal cancer and 4 more.","summary":"Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signalling, Golgi membrane integrity and trafficking, cell survival through NF-kappa-B activation, cell migration, cell differentiation by mediating HDAC7 nuclear export, cell proliferation via MAPK1/3 (ERK1/2) signalling, and plays a role in cardiac hypertrophy, VEGFA-induced angiogenesis, genotoxic-induced apoptosis and flagellin-stimulated inflammatory response. Phosphorylates the epidermal growth factor receptor (EGFR) on dual threonine residues, which leads to the suppression of epidermal growth factor (EGF)-induced MAPK8/JNK1 activation and subsequent JUN phosphorylation. Phosphorylates RIN1, inducing RIN1 binding to 14-3-3 proteins YWHAB, YWHAE and YWHAZ and increased competition with RAF1 for binding to GTP-bound form of Ras proteins (NRAS, HRAS and KRAS).\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.41, somatic mutation 0.46, clinical 0.92). IntOGen calls it a driver in 3 cohorts (2 activating, 1 loss-of-function), covering Cholangiocarcinoma, Colorectal Adenocarcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9407","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9407"},{"label":"UniProt Q15139","url":"https://www.uniprot.org/uniprotkb/Q15139/entry"},{"label":"NCBI Gene 5587","url":"https://www.ncbi.nlm.nih.gov/gene/5587"},{"label":"Ensembl ENSG00000184304","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184304"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","colorectal","prostate","systemic-mastocytosis","aml","cholangiocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKD1","role":["drug-target","oncogene-driver","tumour-suppressor"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9407","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9407","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15139","url":"https://www.uniprot.org/uniprotkb/Q15139/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184304","url":"https://platform.opentargets.org/target/ENSG00000184304/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.60, myeloproliferative neoplasm 0.60, systemic mastocytosis 0.54, leukaemia 0.64 (GraphQL API, CC0)"},{"label":"IntOGen PRKD1","url":"https://www.intogen.org/search?gene=PRKD1","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PRKD1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining carcinoid (2 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Colorectal cancer, Prostate cancer, Biliary tract cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q15139","url":"https://www.uniprot.org/uniprotkb/Q15139/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PRKD1","url":"https://www.intogen.org/search?gene=PRKD1","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PRKD1 tissue","url":"https://www.proteinatlas.org/ENSG00000184304-PRKD1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184304 associations","url":"https://platform.opentargets.org/target/ENSG00000184304/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9407","ensembl":"ENSG00000184304","uniprot":"Q15139","entrez":"5587","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Johannes F.-J. et al, J. Biol. Chem, 1994, \"PKCmu is a novel, atypical member of the protein kinase C family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8119958/","biology":"Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signalling, Golgi membrane integrity and trafficking, cell survival through NF-kappa-B activation, cell migration, cell differentiation by mediating HDAC7 nuclear export, cell proliferation via MAPK1/3 (ERK1/2) signalling, and plays a role in cardiac hypertrophy, VEGFA-induced angiogenesis, genotoxic-induced apoptosis and flagellin-stimulated inflammatory response. Phosphorylates the epidermal growth factor receptor (EGFR) on dual threonine residues, which leads to the suppression of epidermal growth factor (EGF)-induced MAPK8/JNK1 activation and subsequent JUN phosphorylation. Phosphorylates RIN1, inducing RIN1 binding to 14-3-3 proteins YWHAB, YWHAE and YWHAZ and increased competition with RAF1 for binding to GTP-bound form of Ras proteins (NRAS, HRAS and KRAS). Acts downstream of the heterotrimeric G protein beta/gamma-subunit complex to maintain the structural integrity of the Golgi membranes, and is required for protein transport along the secretory pathway. In the trans-Golgi network (TGN), regulates the fission of transport vesicles that are on their way to the plasma membrane. May act by activating the lipid kinase phosphatidylinositol 4-kinase beta (PI4KB) at the TGN for the local synthesis of phosphorylated inositol lipids, which induces a sequential production of DAG, phosphatidic acid (PA) and lyso-PA (LPA) that are necessary for membrane fission and generation of specific transport carriers to the cell surface. Location: Cytoplasm; Cell membrane; Golgi apparatus, trans-Golgi network (UniProt). Locus 14q12 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.64 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.60 with myeloproliferative neoplasm (MONDO_0020076)","Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)","Acute myeloid leukaemia: Open Targets association 0.60 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"kinase","prevalence":[]},{"id":"prkd2","kind":"target","name":"PRKD2","aka":["protein kinase D2","Serine/threonine-protein kinase D2","PKD2","HSPC187","DKFZP586E0820"],"tldr":"PRKD2 (Serine/threonine-protein kinase D2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.","summary":"Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of cell proliferation via MAPK1/3 (ERK1/2) signalling, oxidative stress-induced NF-kappa-B activation, inhibition of HDAC7 transcriptional repression, signalling downstream of T-cell antigen receptor (TCR) and cytokine production, and plays a role in Golgi membrane trafficking, angiogenesis, secretory granule release and cell adhesion. May potentiate mitogenesis induced by the neuropeptide bombesin by mediating an increase in the duration of MAPK1/3 (ERK1/2) signalling, which leads to accumulation of immediate-early gene products including FOS that stimulate cell cycle progression. In response to oxidative stress, is phosphorylated at Tyr-438 and Tyr-717 by ABL1, which leads to the activation of PRKD2 without increasing its catalytic activity, and mediates activation of NF-kappa-B.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17293","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17293"},{"label":"UniProt Q9BZL6","url":"https://www.uniprot.org/uniprotkb/Q9BZL6/entry"},{"label":"NCBI Gene 25865","url":"https://www.ncbi.nlm.nih.gov/gene/25865"},{"label":"Ensembl ENSG00000105287","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105287"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKD2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:17293","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17293","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BZL6","url":"https://www.uniprot.org/uniprotkb/Q9BZL6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PRKD2","url":"https://www.intogen.org/search?gene=PRKD2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:17293","ensembl":"ENSG00000105287","uniprot":"Q9BZL6","entrez":"25865","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang Q.-H. et al, Genome Res, 2000, \"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11042152/","biology":"Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of cell proliferation via MAPK1/3 (ERK1/2) signalling, oxidative stress-induced NF-kappa-B activation, inhibition of HDAC7 transcriptional repression, signalling downstream of T-cell antigen receptor (TCR) and cytokine production, and plays a role in Golgi membrane trafficking, angiogenesis, secretory granule release and cell adhesion. May potentiate mitogenesis induced by the neuropeptide bombesin by mediating an increase in the duration of MAPK1/3 (ERK1/2) signalling, which leads to accumulation of immediate-early gene products including FOS that stimulate cell cycle progression. In response to oxidative stress, is phosphorylated at Tyr-438 and Tyr-717 by ABL1, which leads to the activation of PRKD2 without increasing its catalytic activity, and mediates activation of NF-kappa-B. In response to the activation of the gastrin receptor CCKBR, is phosphorylated at Ser-244 by CSNK1D and CSNK1E, translocates to the nucleus, phosphorylates HDAC7, leading to nuclear export of HDAC7 and inhibition of HDAC7 transcriptional repression of NR4A1/NUR77. Upon TCR stimulation, is activated independently of ZAP70, translocates from the cytoplasm to the nucleus and is required for interleukin-2 (IL2) promoter up-regulation. During adaptive immune responses, is required in peripheral T-lymphocytes for the production of the effector cytokines IL2 and IFNG after TCR engagement and for optimal induction of antibody responses to antigens. Location: Cytoplasm; Cell membrane; Nucleus; Golgi apparatus, trans-Golgi network (UniProt). Locus 19q13.32 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"kinase","prevalence":[]},{"id":"prkd3","kind":"target","name":"PRKD3","aka":["protein kinase D3","Serine/threonine-protein kinase D3","PKD3","EPK2","PRKCN"],"tldr":"PRKD3 (Serine/threonine-protein kinase D3) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Systemic mastocytosis and 1 more.","summary":"Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.96, animal model 0.42, genetic association 0.00, clinical 0.92).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9408","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9408"},{"label":"UniProt O94806","url":"https://www.uniprot.org/uniprotkb/O94806/entry"},{"label":"NCBI Gene 23683","url":"https://www.ncbi.nlm.nih.gov/gene/23683"},{"label":"Ensembl ENSG00000115825","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115825"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","systemic-mastocytosis","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.94. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKD3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9408","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9408","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O94806","url":"https://www.uniprot.org/uniprotkb/O94806/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000115825","url":"https://platform.opentargets.org/target/ENSG00000115825/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.56, myeloproliferative neoplasm 0.56, systemic mastocytosis 0.54, leukaemia 0.57 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PRKD3: RNA low tissue specificity; no normal tissue stained high; highest cancer staining lymphoma (5 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRKD3 tissue","url":"https://www.proteinatlas.org/ENSG00000115825-PRKD3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115825 associations","url":"https://platform.opentargets.org/target/ENSG00000115825/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9408","ensembl":"ENSG00000115825","uniprot":"O94806","entrez":"23683","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hayashi et al, Biochim. Biophys. Acta, 1999, \"PKCnu, a new member of the protein kinase C family, composes a fourth subfamily with PKCmu\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10231560/","biology":"Converts transient diacylglycerol (DAG) signals into prolonged physiological effects, downstream of PKC. Involved in resistance to oxidative stress. Location: Cytoplasm; Membrane (UniProt). Locus 2p22.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.56 with myeloproliferative neoplasm (MONDO_0020076)","Systemic mastocytosis: Open Targets association 0.54 with systemic mastocytosis (MONDO_0016586)","Acute myeloid leukaemia: Open Targets association 0.56 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"kinase","prevalence":[]},{"id":"prkdc","kind":"target","name":"PRKDC","aka":["protein kinase, DNA-activated, catalytic subunit","DNA-dependent protein kinase catalytic subunit","DNPK1","p350","DNAPK","XRCC7","DNA-PKcs","DNAPKc","DNA-PKC","p460","HYRC1"],"tldr":"PRKDC (DNA-dependent protein kinase catalytic subunit) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma, Non-small-cell lung cancer and Diffuse large B-cell lymphoma.","summary":"Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Anti-CTLA-4 Monoclonal Antibody and Anti-PD1 Monoclonal Antibody.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9413","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9413"},{"label":"UniProt P78527","url":"https://www.uniprot.org/uniprotkb/P78527/entry"},{"label":"NCBI Gene 5591","url":"https://www.ncbi.nlm.nih.gov/gene/5591"},{"label":"Ensembl ENSG00000253729","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000253729"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma","nsclc","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKDC","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9413","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9413","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78527","url":"https://www.uniprot.org/uniprotkb/P78527/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRKDC","url":"https://civicdb.org/features/4529","note":"3 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PRKDC among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PRKDC: RNA low tissue specificity; high antibody staining in 43 normal tissues; highest cancer staining breast cancer (12 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Lung cancer (all types), Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRKDC tissue","url":"https://www.proteinatlas.org/ENSG00000253729-PRKDC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000253729 associations","url":"https://platform.opentargets.org/target/ENSG00000253729/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9413","ensembl":"ENSG00000253729","uniprot":"P78527","entrez":"5591","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hartley K.O. et al, Cell, 1995, \"DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7671312/","biology":"Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). Recruited by XRCC5 and XRCC6 to DNA ends and is required to (1) protect and align broken ends of DNA, thereby preventing their degradation, (2) and sequester the DSB for repair by NHEJ. Acts as a scaffold protein to aid the localisation of DNA repair proteins to the site of damage. Location: Nucleus; Nucleus, nucleolus; Cytoplasm, cytosol (UniProt). Locus 8q11.21 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease","Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"prkn","kind":"target","name":"PRKN","aka":["parkin RBR E3 ubiquitin protein ligase","E3 ubiquitin-protein ligase parkin","AR-JP","parkin","PARK2"],"tldr":"PRKN (E3 ubiquitin-protein ligase parkin) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer and Ovarian cancer.","summary":"Functions within a multiprotein E3 ubiquitin ligase complex, catalysing the covalent attachment of ubiquitin moieties onto substrate proteins. Substrates include SYT11 and VDAC1. Other substrates are BCL2, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPTIN5, TOMM20, USP30, ZNF746, MIRO1 and AIMP2.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Phosphatidylinositide 3-Kinase Inhibitor. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.85).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8607","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8607"},{"label":"UniProt O60260","url":"https://www.uniprot.org/uniprotkb/O60260/entry"},{"label":"NCBI Gene 5071","url":"https://www.ncbi.nlm.nih.gov/gene/5071"},{"label":"Ensembl ENSG00000185345","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185345"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["lung-cancer","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRKN","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8607","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8607","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60260","url":"https://www.uniprot.org/uniprotkb/O60260/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRKN","url":"https://civicdb.org/features/4103","note":"2 evidence items, 0 assertions, 2 variants; diseases: Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000185345","url":"https://platform.opentargets.org/target/ENSG00000185345/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: ovarian cancer 0.57, lung cancer 0.58 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PRKN: RNA tissue enhanced (skeletal muscle 27 nTPM, tongue 15 nTPM); high antibody staining in 5 normal tissues; highest cancer staining pancreatic cancer (2 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Ovarian cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (lung cancer, ovarian cancer). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PRKN tissue","url":"https://www.proteinatlas.org/ENSG00000185345-PRKN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185345 associations","url":"https://platform.opentargets.org/target/ENSG00000185345/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8607","ensembl":"ENSG00000185345","uniprot":"O60260","entrez":"5071","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kitada et al, Nature, 1998, \"Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9560156/","biology":"Functions within a multiprotein E3 ubiquitin ligase complex, catalysing the covalent attachment of ubiquitin moieties onto substrate proteins. Substrates include SYT11 and VDAC1. Other substrates are BCL2, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPTIN5, TOMM20, USP30, ZNF746, MIRO1 and AIMP2. Mediates monoubiquitination as well as 'Lys-6', 'Lys-11', 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination of substrates depending on the context. Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating 'Lys-63'-linked polyubiquitination of misfolded proteins such as PARK7: 'Lys-63'-linked polyubiquitinated misfolded proteins are then recognised by HDAC6, leading to their recruitment to aggresomes, followed by degradation. Mediates 'Lys-63'-linked polyubiquitination of a 22 kDa O-linked glycosylated isoform of SNCAIP, possibly playing a role in Lewy-body formation. Location: Cytoplasm, cytosol; Nucleus; Endoplasmic reticulum; Mitochondrion (UniProt). Locus 6q26 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.58 with lung cancer (MONDO_0008903)","Ovarian cancer: Open Targets association 0.57 with ovarian cancer (MONDO_0008170)"],"targetClass":"transcription","prevalence":[]},{"id":"prmt5-mtap","kind":"target","name":"PRMT5 (MTAP-deleted cancers)","aka":[],"tldr":"An enzyme that cancers lacking the MTAP gene (about 10-15% of all tumours) depend on more than normal cells do; new inhibitors designed to exploit that difference are in late trials.","summary":"Homozygous deletion of MTAP (co-deleted with CDKN2A on 9p21) causes accumulation of MTA, which partially inhibits PRMT5, leaving MTAP-null cells hypersensitive to further PRMT5 inhibition. MTA-cooperative PRMT5 inhibitors (AMG 193, MRTX1719/BMS-986504, TNG908, TNG462, AZD3470) exploit this synthetic lethality with a wide therapeutic window compared with first-generation PRMT5 inhibitors (which caused thrombocytopenia). Responses have been reported in MTAP-deleted NSCLC, mesothelioma, pancreatic and biliary cancers; combination with KRAS G12C inhibitors is being tested and phase 3 trials began in 2025-26. MTAP deletion occurs in ~40% of mesothelioma and glioblastoma, ~20% of pancreatic cancer and bladder cancer, ~15% of NSCLC.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/PRMT5","links":[{"label":"MRTX1719 first-in-human (Cancer Discov 2023)","url":"https://doi.org/10.1158/2159-8290.CD-23-0669"}],"tags":["gap-fill"],"related":[],"cancers":["mesothelioma","glioblastoma","pancreatic","nsclc","urothelial","cholangiocarcinoma"],"sections":[],"technologies":["synthetic-lethality-approaches","cgp","cancer-cell-line-encyclopedias"],"targets":[],"drugs":["navlimetostat","tng462","azd3470","anvumetostat","tng456"],"companies":["amgen","bms","astrazeneca"],"institutions":[],"pathways":[],"terms":["synthetic-lethality"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-engstrom-cancer-discov"],"journals":[],"dependsOn":[],"notes":[],"symbol":"PRMT5","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists PRMT5 among essential proteins and finds the RNA at low tissue specificity; the 5 medicines aimed at it (Navlimetostat, TNG462, AZD3470 and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA PRMT5: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining breast cancer (7 of 11 high). HPA MTAP: RNA low tissue specificity; high antibody staining in 8 normal tissues; highest cancer staining ovarian cancer (3 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Mesothelioma, Brain and spinal cord tumours (all types), Lung cancer (all types), Pancreatic ductal adenocarcinoma, Bladder & urothelial cancer, Biliary tract cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (diaphyseal medullary stenosis-bone malignancy syndrome, cutaneous melanoma, melanoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRMT5 tissue","url":"https://www.proteinatlas.org/ENSG00000100462-PRMT5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MTAP tissue","url":"https://www.proteinatlas.org/ENSG00000099810-MTAP/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100462 associations","url":"https://platform.opentargets.org/target/ENSG00000100462/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000099810 associations","url":"https://platform.opentargets.org/target/ENSG00000099810/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10894","ensembl":"ENSG00000100462","uniprot":"O14744","entrez":"10419","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Krapivinsky et al, J. Biol. Chem, 1998, \"pICln binds to a mammalian homolog of a yeast protein involved in regulation of cell morphology\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9556550/","biology":"Type II protein arginine methyltransferase forming symmetric dimethylarginine on histones (H4R3, H3R8) and splicing factors (SmD3); essential for spliceosome function; MTA is a competitive SAM-site inhibitor accumulating when MTAP is lost.","whereFound":["Mesothelioma (~40% MTAP deletion)","Glioblastoma (~40%)","Pancreatic adenocarcinoma (~20%)","Urothelial carcinoma (~20%)","NSCLC (~15%)","Cholangiocarcinoma, melanoma, sarcoma (subsets)"],"targetClass":"enzyme","prevalence":[{"cancerId":"mesothelioma","pct":"40","measure":"MTAP homozygous deletion"},{"cancerId":"glioblastoma","pct":"40","measure":"MTAP deletion"},{"cancerId":"nsclc","pct":"15","measure":"MTAP deletion"},{"cancerId":"pancreatic","pct":"20","measure":"MTAP deletion"}]},{"id":"prncr1","kind":"target","name":"PRNCR1","aka":["prostate cancer associated non-coding RNA 1","PCAT8"],"tldr":"PRNCR1 (prostate cancer associated non-coding RNA 1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"UniProt has no function text for this gene; HGNC names it \"prostate cancer associated non-coding RNA 1\".\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:48942","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:48942"},{"label":"NCBI Gene 101867536","url":"https://www.ncbi.nlm.nih.gov/gene/101867536"},{"label":"Ensembl ENSG00000282961","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000282961"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRNCR1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:48942","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:48942","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"CIViC gene PRNCR1","url":"https://civicdb.org/features/41522","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: the Human Protein Atlas has no row for PRNCR1 and no corpus medicine is aimed at it. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Open Targets ENSG00000282961 associations","url":"https://platform.opentargets.org/target/ENSG00000282961/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:48942","ensembl":"ENSG00000282961","entrez":"101867536","biology":"UniProt has no function text for this gene; HGNC names it \"prostate cancer associated non-coding RNA 1\". Locus 8q24.21 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"pgr","kind":"target","name":"Progesterone receptor (PGR)","aka":[],"tldr":"The progesterone receptor is the hormone receptor that, alongside the oestrogen receptor, marks breast cancers likely to respond to hormone therapy, and it is the target of the progestins megestrol and medroxyprogesterone used in endometrial and breast cancer.","summary":"The progesterone receptor (PR, gene PGR) is a nuclear receptor whose expression is switched on by oestrogen signalling, so PR positivity in a breast cancer indicates an intact, functioning oestrogen receptor pathway and a better response to endocrine therapy; it is reported with ER and HER2 on every breast cancer pathology report. Progestins such as megestrol acetate and medroxyprogesterone act through the receptor and are used as hormonal treatment for advanced endometrial cancer and as later-line therapy in hormone receptor-positive breast cancer, and progestin-containing intrauterine systems are used for fertility-sparing treatment of early endometrial cancer.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Progesterone_receptor","links":[{"label":"UniProt P06401: PGR","url":"https://www.uniprot.org/uniprotkb/P06401/entry"},{"label":"HGNC:8910 PGR","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8910"}],"tags":[],"related":["estrogen-receptor","pr-status"],"cancers":["breast-hr-positive","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":["megestrol","megestrol-progestins"],"companies":[],"institutions":[],"pathways":[],"terms":["ihc"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PGR","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression or amplification: 1 of 1 label readouts filed under it score protein level or gene copies (PR status (progesterone receptor by IHC)), so the medicines rely on the tumour carrying more of it than normal tissue. HPA PGR: RNA group enriched (cervix 60 nTPM, endometrium 1 97 nTPM, fallopian tube 32 nTPM); high antibody staining in 4 normal tissues; highest cancer staining endometrial cancer (3 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Endometrial cancer); Open Targets associates it with 4 specific cancer types at or above 0.5 (breast cancer, leiomyoma, uterine corpus leiomyoma, atypical endometrial hyperplasia). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"PR status (progesterone receptor by IHC) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=89a142d5-7e61-48bf-9e77-e2cd124c4792","note":"Hormone receptor-positive (ER or PR >= 1%)"},{"label":"Human Protein Atlas PGR tissue","url":"https://www.proteinatlas.org/ENSG00000082175-PGR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PGR pathology","url":"https://www.proteinatlas.org/ENSG00000082175-PGR/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000082175 associations","url":"https://platform.opentargets.org/target/ENSG00000082175/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8910","ensembl":"ENSG00000082175","uniprot":"P06401","entrez":"5241","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Misrahi et al, Biochem. Biophys. Res. Commun, 1987, \"Complete amino acid sequence of the human progesterone receptor deduced from cloned cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3551956/","biology":"PGR encodes two isoforms, PR-A and PR-B, from alternative promoters; the receptor binds progesterone, dimerises and regulates transcription at progesterone response elements, and it cross-talks with the oestrogen receptor at shared chromatin sites. In breast cancer PR expression is a marker of ER activity and of luminal A biology; loss of PR in an ER-positive tumour predicts a poorer response to endocrine therapy. In the endometrium progesterone opposes oestrogen-driven proliferation, which is why unopposed oestrogen causes endometrial cancer and progestins treat it.","whereFound":["Breast epithelium and most ER-positive breast cancers","Endometrium and endometrial cancers","Ovary, uterus and brain"],"targetClass":"nuclear-receptor","prevalence":[{"cancerId":"breast-hr-positive","pct":"about 65-70","measure":"Progesterone receptor-positive by immunohistochemistry","source":"https://www.cancer.org/cancer/types/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html"}]},{"id":"prom1","kind":"target","name":"PROM1","aka":["prominin 1","Prominin-1","AC133","CD133","RP41","CORD12","PROML1","MCDR2","STGD4"],"tldr":"PROM1 (Prominin-1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma.","summary":"May play a role in cell differentiation, proliferation and apoptosis. Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organisation of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Sorafenib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9454","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9454"},{"label":"UniProt O43490","url":"https://www.uniprot.org/uniprotkb/O43490/entry"},{"label":"NCBI Gene 8842","url":"https://www.ncbi.nlm.nih.gov/gene/8842"},{"label":"Ensembl ENSG00000007062","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000007062"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PROM1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9454","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9454","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43490","url":"https://www.uniprot.org/uniprotkb/O43490/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PROM1","url":"https://civicdb.org/features/7014","note":"1 evidence items, 0 assertions, 1 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PROM1: RNA tissue enriched (retina 253 nTPM); high antibody staining in 6 normal tissues; highest cancer staining colorectal cancer (10 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PROM1 tissue","url":"https://www.proteinatlas.org/ENSG00000007062-PROM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000007062 associations","url":"https://platform.opentargets.org/target/ENSG00000007062/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9454","ensembl":"ENSG00000007062","uniprot":"O43490","entrez":"8842","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miraglia et al, Blood, 1997, \"A novel five-transmembrane hematopoietic stem cell antigen: isolation, characterization, and molecular cloning\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9389721/","biology":"May play a role in cell differentiation, proliferation and apoptosis. Binds cholesterol in cholesterol-containing plasma membrane microdomains and may play a role in the organisation of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signalling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner. Location: Apical cell membrane; Cell projection, microvillus membrane; Cell projection, cilium, photoreceptor outer segment; Endoplasmic reticulum (UniProt). Locus 4p15.32 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"pap","kind":"target","name":"Prostatic acid phosphatase (ACP3, PAP)","aka":[],"tldr":"Prostatic acid phosphatase is an enzyme made almost only by the prostate; the cell vaccine sipuleucel-T trains a patient's immune cells against it.","summary":"Prostatic acid phosphatase (PAP, gene ACP3) is secreted by prostate epithelium and was the prostate cancer blood marker before PSA. Because it is nearly prostate-specific, it serves as the antigen for sipuleucel-T: the patient's antigen-presenting cells are loaded with a PAP-GM-CSF fusion protein and re-infused to raise an anti-PAP immune response in metastatic castration-resistant prostate cancer.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Prostatic_acid_phosphatase","links":[{"label":"UniProt P15309: ACP3","url":"https://www.uniprot.org/uniprotkb/P15309/entry"},{"label":"HGNC:125 ACP3","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:125"},{"label":"ChEMBL target CHEMBL2633","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2633"}],"tags":[],"related":[],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["sipuleucel-t"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"ACP3","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"one-type","specificityNote":"Lineage antigen shared with normal granulocytes: HPA blood lineage lineage enhanced at or above 25 nTPM, and surface-antigen class aim at it, so normal cells of the lineage are hit too. HPA ACP3: RNA tissue enriched (prostate 3,410 nTPM); blood lineage lineage enhanced (granulocytes 140 nTPM); high antibody staining in 1 normal tissue; highest cancer staining prostate cancer (11 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (prostate cancer). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ACP3 tissue","url":"https://www.proteinatlas.org/ENSG00000014257-ACP3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas ACP3 pathology","url":"https://www.proteinatlas.org/ENSG00000014257-ACP3/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000014257 associations","url":"https://platform.opentargets.org/target/ENSG00000014257/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:125","ensembl":"ENSG00000014257","uniprot":"P15309","entrez":"55","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vihko et al, FEBS Lett, 1988, \"Molecular cloning and sequence analysis of cDNA encoding human prostatic acid phosphatase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2842184/","biology":"A prostate-restricted phosphatase found in secreted and transmembrane forms; expression persists in most prostate cancers.","whereFound":["Prostate epithelium and prostate cancer (most cases)","Low in other tissues"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"prostate","pct":"nearly all","measure":"Prostatic acid phosphatase expressed by prostate epithelium and most prostate cancers, the antigen sipuleucel-T targets","source":"https://www.cancer.gov/types/prostate/hp/prostate-treatment-pdq"}]},{"id":"proteasome","kind":"target","name":"Proteasome (PSMB5)","aka":[],"tldr":"The cell's protein shredder. Myeloma cells make huge amounts of antibody protein and depend on the proteasome to clear the waste, so blocking it kills them.","summary":"The 26S proteasome degrades ubiquitin-tagged proteins, and its chymotrypsin-like activity sits in the PSMB5 subunit that bortezomib and carfilzomib bind. Plasma cells, and myeloma cells in particular, secrete immunoglobulin at a rate that overloads protein quality control, so proteasome inhibition triggers a terminal unfolded protein response and blocks NF-kB signalling. Bortezomib was approved for myeloma in 2003 and carfilzomib in 2012; peripheral neuropathy is the class toxicity of bortezomib and cardiovascular events of carfilzomib.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Proteasome","links":[{"label":"UniProt P28074: PSMB5","url":"https://www.uniprot.org/uniprotkb/P28074/entry"}],"tags":[],"related":[],"cancers":["multiple-myeloma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["bortezomib","carfilzomib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PSMB5","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMB5 among essential proteins and finds the RNA at low tissue specificity; the 2 medicines aimed at it (Bortezomib, Carfilzomib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA PSMB5: RNA low tissue specificity; high antibody staining in 3 normal tissues. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMB5 tissue","url":"https://www.proteinatlas.org/ENSG00000100804-PSMB5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100804 associations","url":"https://platform.opentargets.org/target/ENSG00000100804/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9542","ensembl":"ENSG00000100804","uniprot":"P28074","entrez":"5693","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee L.W. et al, Biochim. Biophys. Acta, 1990, \"Relationships among the subunits of the high molecular weight proteinase, macropain (proteasome)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2306472/","biology":"Multi-subunit protease complex that degrades ubiquitinated proteins; PSMB5 carries the chymotrypsin-like catalytic activity targeted by approved inhibitors.","whereFound":["Multiple myeloma","Mantle cell lymphoma"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (protein disposal, on which myeloma cells depend most); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"pkc","kind":"target","name":"Protein kinase C family (PKC)","aka":[],"tldr":"Protein kinase C is a family of signalling enzymes; the AML drug midostaurin started life as a PKC inhibitor and still hits the family alongside FLT3.","summary":"The protein kinase C family (PRKCA and its relatives) transmits signals from calcium and diacylglycerol to growth, survival and secretion pathways. Midostaurin (PKC412) was developed as a PKC inhibitor and gained approval in FLT3-mutant acute myeloid leukaemia and systemic mastocytosis through its FLT3 and KIT activity; PKC remains among its listed targets. PKC-beta inhibitors such as enzastaurin were tested in lymphoma without success.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Protein_kinase_C","links":[{"label":"UniProt P17252: PRKCA","url":"https://www.uniprot.org/uniprotkb/P17252/entry"},{"label":"HGNC:9393 PRKCA","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9393"},{"label":"ChEMBL target CHEMBL2093867","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2093867"}],"tags":[],"related":["flt3"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":["midostaurin"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PRKCA","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal brain, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA PRKCA: RNA tissue enhanced (brain 33 nTPM); high antibody staining in 3 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute myeloid leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRKCA tissue","url":"https://www.proteinatlas.org/ENSG00000154229-PRKCA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PRKCA pathology","url":"https://www.proteinatlas.org/ENSG00000154229-PRKCA/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000154229 associations","url":"https://platform.opentargets.org/target/ENSG00000154229/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9393","ensembl":"ENSG00000154229","uniprot":"P17252","entrez":"5578","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Finkenzeller et al, Nucleic Acids Res, 1990, \"Sequence of human protein kinase C alpha\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2336401/","biology":"Serine/threonine kinases in conventional, novel and atypical subfamilies; PKC-alpha also drives resistance and vascular permeability signalling.","whereFound":["Ubiquitous","Inhibited by midostaurin in AML and mastocytosis"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (protein kinase C family); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"prps1","kind":"target","name":"PRPS1","aka":["phosphoribosyl pyrophosphate synthetase 1","Ribose-phosphate pyrophosphokinase 1","CMTX5","DFNX1","PRS-I","PPRibP","DFN2"],"tldr":"PRPS1 (Ribose-phosphate pyrophosphokinase 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Acute lymphoblastic leukaemia.","summary":"Catalyses the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.\n\nCIViC holds 45 clinical evidence items and 0 assertions across 21 variants, naming Mercaptopurine, Thioguanine, Daunorubicin and Cytarabine and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9462","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9462"},{"label":"UniProt P60891","url":"https://www.uniprot.org/uniprotkb/P60891/entry"},{"label":"NCBI Gene 5631","url":"https://www.ncbi.nlm.nih.gov/gene/5631"},{"label":"Ensembl ENSG00000147224","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147224"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 7 therapies; CIViC holds 45 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRPS1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9462","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9462","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P60891","url":"https://www.uniprot.org/uniprotkb/P60891/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PRPS1","url":"https://civicdb.org/features/4566","note":"45 evidence items, 0 assertions, 21 variants; diseases: B-lymphoblastic Leukaemia/lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PRPS1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining cervical cancer (1 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PRPS1 tissue","url":"https://www.proteinatlas.org/ENSG00000147224-PRPS1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147224 associations","url":"https://platform.opentargets.org/target/ENSG00000147224/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9462","ensembl":"ENSG00000147224","uniprot":"P60891","entrez":"5631","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Roessler B.J. et al, Nucleic Acids Res, 1990, \"Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2155397/","biology":"Catalyses the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. Locus Xq22.3 (HGNC).","whereFound":["Acute lymphoblastic leukaemia: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"prune2","kind":"target","name":"PRUNE2","aka":["prune homolog 2 with BCH domain","Protein prune homolog 2","BMCC1","BNIPXL","A214N16.3","bA214N16.3","C9orf65","KIAA0367"],"tldr":"PRUNE2 (Protein prune homolog 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Neuroblastoma.","summary":"May play an important role in regulating differentiation, survival and aggressiveness of the tumour cells.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Neuroblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25209","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25209"},{"label":"UniProt Q8WUY3","url":"https://www.uniprot.org/uniprotkb/Q8WUY3/entry"},{"label":"NCBI Gene 158471","url":"https://www.ncbi.nlm.nih.gov/gene/158471"},{"label":"Ensembl ENSG00000106772","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106772"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PRUNE2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:25209","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25209","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WUY3","url":"https://www.uniprot.org/uniprotkb/Q8WUY3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PRUNE2","url":"https://www.intogen.org/search?gene=PRUNE2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:25209","ensembl":"ENSG00000106772","uniprot":"Q8WUY3","entrez":"158471","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9205841/","biology":"May play an important role in regulating differentiation, survival and aggressiveness of the tumour cells. Location: Cytoplasm (UniProt). Locus 9q21.2 (HGNC).","whereFound":["Neuroblastoma: IntOGen driver in 1 cohort (NBL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"psca","kind":"target","name":"PSCA","aka":["prostate stem cell antigen","Prostate stem cell antigen","lncPSCA"],"tldr":"PSCA (Prostate stem cell antigen) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"May be involved in the regulation of cell proliferation. Has a cell-proliferation inhibition activity in vitro. May act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.64, genetic association 0.69, clinical 0.17).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9500","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9500"},{"label":"UniProt O43653","url":"https://www.uniprot.org/uniprotkb/O43653/entry"},{"label":"NCBI Gene 8000","url":"https://www.ncbi.nlm.nih.gov/gene/8000"},{"label":"Ensembl ENSG00000167653","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167653"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.17. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSCA","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9500","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9500","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43653","url":"https://www.uniprot.org/uniprotkb/O43653/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000167653","url":"https://platform.opentargets.org/target/ENSG00000167653/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: gastric cancer 0.53 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PSCA: RNA tissue enriched (stomach 1 3,010 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PSCA tissue","url":"https://www.proteinatlas.org/ENSG00000167653-PSCA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167653 associations","url":"https://platform.opentargets.org/target/ENSG00000167653/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9500","ensembl":"ENSG00000167653","uniprot":"O43653","entrez":"8000","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Reiter R.E. et al, Proc. Natl. Acad. Sci. U.S.A, 1998, \"Prostate stem cell antigen: a cell surface marker overexpressed in prostate cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9465086/","biology":"May be involved in the regulation of cell proliferation. Has a cell-proliferation inhibition activity in vitro. May act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits nicotine-induced signalling probably implicating alpha-3:beta-2- or alpha-7-containing nAChRs. Location: Cell membrane (UniProt). Locus 8q24.3 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.53 with gastric cancer (MONDO_0001056)"],"targetClass":"other","prevalence":[]},{"id":"psen2","kind":"target","name":"PSEN2","aka":["presenilin 2","Presenilin-2","AD3L","STM2","PS2","PS-2","E5-1","AD4"],"tldr":"PSEN2 (Presenilin-2) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.","summary":"Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Selectively cleaves late endosomal/lysosomal localised substrates and generates the prominent pool of intracellular amyloid beta that contains longer amyloid beta. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9509"},{"label":"UniProt P49810","url":"https://www.uniprot.org/uniprotkb/P49810/entry"},{"label":"NCBI Gene 5664","url":"https://www.ncbi.nlm.nih.gov/gene/5664"},{"label":"Ensembl ENSG00000143801","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143801"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["desmoid-tumour"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.83. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSEN2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9509","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9509","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49810","url":"https://www.uniprot.org/uniprotkb/P49810/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143801","url":"https://platform.opentargets.org/target/ENSG00000143801/associations","note":"per-cancer scores at or above 0.5: desmoid tumour 0.50 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSEN2: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (desmoid tumor). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSEN2 tissue","url":"https://www.proteinatlas.org/ENSG00000143801-PSEN2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143801 associations","url":"https://platform.opentargets.org/target/ENSG00000143801/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9509","ensembl":"ENSG00000143801","uniprot":"P49810","entrez":"5664","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Levy-Lahad et al, Science, 1995, \"Candidate gene for the chromosome 1 familial Alzheimer's disease locus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7638622/","biology":"Catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). Selectively cleaves late endosomal/lysosomal localised substrates and generates the prominent pool of intracellular amyloid beta that contains longer amyloid beta. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis. Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria. Location: Endoplasmic reticulum membrane; Golgi apparatus membrane; Late endosome membrane; Lysosome membrane (UniProt). Locus 1q42.13 (HGNC).","whereFound":["Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)"],"targetClass":"enzyme","prevalence":[]},{"id":"psenen","kind":"target","name":"PSENEN","aka":["presenilin enhancer, gamma-secretase subunit","Gamma-secretase subunit PEN-2","PEN2"],"tldr":"PSENEN (Gamma-secretase subunit PEN-2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Desmoid tumour.","summary":"Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signalling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30100","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30100"},{"label":"UniProt Q9NZ42","url":"https://www.uniprot.org/uniprotkb/Q9NZ42/entry"},{"label":"NCBI Gene 55851","url":"https://www.ncbi.nlm.nih.gov/gene/55851"},{"label":"Ensembl ENSG00000205155","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000205155"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["desmoid-tumour"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.83. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSENEN","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:30100","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30100","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZ42","url":"https://www.uniprot.org/uniprotkb/Q9NZ42/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000205155","url":"https://platform.opentargets.org/target/ENSG00000205155/associations","note":"per-cancer scores at or above 0.5: desmoid tumour 0.50 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PSENEN: RNA tissue enhanced (choroid plexus 320 nTPM); high antibody staining in 10 normal tissues; highest cancer staining melanoma (2 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 1 specific cancer type at or above 0.5 (desmoid tumor). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PSENEN tissue","url":"https://www.proteinatlas.org/ENSG00000205155-PSENEN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000205155 associations","url":"https://platform.opentargets.org/target/ENSG00000205155/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:30100","ensembl":"ENSG00000205155","uniprot":"Q9NZ42","entrez":"55851","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhao et al, 1999, \"Novel genes expressed in hematopoietic stem/progenitor cells from myelodysplastic syndrome patients\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9NZ42/entry","biology":"Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signalling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. PSENEN modulates both endoproteolysis of presenilin and gamma-secretase activity. Besides its role in gamma-secretase complex, acts as a regulator of AMP-activated protein kinase (AMPK) activity in response to calorie restriction: binds metformin, an antidiabetic drug, promoting association with ATP6AP1, a subunit of the V-ATPase complex, leading to V-ATPase complex inhibition on lysosomes and AMPK activation via the AXIN1-STK11/LKB1 axis. Location: Endoplasmic reticulum membrane; Golgi apparatus, Golgi stack membrane; Cell membrane; Membrane (UniProt). Locus 19q13.12 (HGNC).","whereFound":["Desmoid tumour: Open Targets association 0.50 with desmoid tumour (MONDO_0007608)"],"targetClass":"other","prevalence":[]},{"id":"psip1","kind":"target","name":"PSIP1","aka":["PC4 and SRSF1 interacting protein 1","PC4 and SFRS1-interacting protein","p52","LEDGF","p75","DFS70","PSIP2"],"tldr":"PSIP1 (PC4 and SFRS1-interacting protein) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Colorectal cancer and Gallbladder cancer.","summary":"Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fibre cell terminal differentiation.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes affected pathway 0.25, literature 0.97, genetic association 0.13, somatic mutation 0.87, animal model 0.25). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Bladder Urothelial Carcinoma, Gallbladder Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9527","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9527"},{"label":"UniProt O75475","url":"https://www.uniprot.org/uniprotkb/O75475/entry"},{"label":"NCBI Gene 11168","url":"https://www.ncbi.nlm.nih.gov/gene/11168"},{"label":"Ensembl ENSG00000164985","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164985"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","colorectal","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["menin-kmt2a"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSIP1","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9527","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9527","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75475","url":"https://www.uniprot.org/uniprotkb/O75475/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164985","url":"https://platform.opentargets.org/target/ENSG00000164985/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.51, urinary bladder cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen PSIP1","url":"https://www.intogen.org/search?gene=PSIP1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9527","ensembl":"ENSG00000164985","uniprot":"O75475","entrez":"11168","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ge et al, EMBO J, 1998, \"Isolation of cDNAs encoding novel transcription coactivators p52 and p75 reveals an alternate regulatory mechanism of transcriptional activation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9822615/","biology":"Transcriptional coactivator involved in neuroepithelial stem cell differentiation and neurogenesis. Involved in particular in lens epithelial cell gene regulation and stress responses. May play an important role in lens epithelial to fibre cell terminal differentiation. May play a protective role during stress-induced apoptosis. Isoform 2 is a more general and stronger transcriptional coactivator. Isoform 2 may also act as an adapter to coordinate pre-mRNA splicing. Location: Nucleus (UniProt). Locus 9p22.3 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.51 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 1 cohort (BLCA)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Gallbladder cancer: IntOGen driver in 1 cohort (GBC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"psma","kind":"target","name":"PSMA","aka":[],"tldr":"A protein on prostate cancer cells that lets doctors both see the cancer on a PET scan and hit it with a radioactive drug.","summary":"Prostate-specific membrane antigen is the archetypal theranostic target. PSMA PET (Pylarify, Illuccix, Locametz, Pylarify TruVu) is standard for staging; 177Lu-PSMA-617 (Pluvicto) is approved before and after chemotherapy in metastatic castration-resistant prostate cancer. Alpha-emitting 225Ac-PSMA agents and PSMA-targeted bispecifics and CAR-T are in trials.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Glutamate_carboxypeptidase_II","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Glutamate_carboxypeptidase_II"}],"tags":["theranostic","pet-target"],"related":["psma-pet-expression"],"cancers":["prostate","prostate-mcrpc"],"sections":[],"technologies":[],"targets":[],"drugs":["aaa817","jnj-87189401","hrs-4357","fpi-2265","ino-5401"],"companies":["artbio","convergent-therapeutics","janux-therapeutics","point-biopharma","xilio-therapeutics"],"institutions":[],"pathways":["prostate-cancer-signalling"],"terms":["theranostics"],"trials":["nct07567521","nct06383052","nct05381103","nct06906471","nct07258407"],"people":[],"bottlenecks":[],"keyPapers":["paper-silver-psma-expression-normal-malignant-tissues-ccr-1997","paper-therap-lancet-2021","paper-fendler-psma-pet-biochemical-recurrence-jama-oncol-2019"],"journals":[],"dependsOn":[],"notes":["Prostate cancer: the only prostate biomarker read by a scanner rather than a sequencer. Expression is largely restricted to prostatic epithelium, duodenal mucosa, some proximal renal tubules and colonic neuroendocrine cells among normal tissues, and it falls as tumours dedifferentiate, which is the biology behind PSMA-negative lesions and the salivary, lacrimal and renal uptake that limits dosing (Silver 1997)."],"symbol":"FOLH1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression or amplification: 1 of 1 label readouts filed under it score protein level or gene copies (PSMA expression by PET (PSMA-positive)), so the medicines rely on the tumour carrying more of it than normal tissue. HPA FOLH1: RNA tissue enhanced (intestine 251 nTPM, prostate 71 nTPM); high antibody staining in 4 normal tissues; highest cancer staining prostate cancer (7 of 7 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Renal cell carcinoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (prostate cancer). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"PSMA expression by PET (PSMA-positive) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=14908037-2892-4d98-a053-253ce35afb1a","note":"PSMA-positive by PSMA PET"},{"label":"Human Protein Atlas FOLH1 tissue","url":"https://www.proteinatlas.org/ENSG00000086205-FOLH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas FOLH1 pathology","url":"https://www.proteinatlas.org/ENSG00000086205-FOLH1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000086205 associations","url":"https://platform.opentargets.org/target/ENSG00000086205/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3788","ensembl":"ENSG00000086205","uniprot":"Q04609","entrez":"2346","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Israeli R.S. et al, Cancer Res, 1993, \"Molecular cloning of a complementary DNA encoding a prostate-specific membrane antigen\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8417812/","biology":"PSMA is a type II transmembrane glutamate carboxypeptidase; expression increases with grade and castration resistance. Also expressed in tumour neovasculature of other cancers.","whereFound":["Prostate cancer (>90%)","Neovasculature of RCC, glioma, others","Prostate cancer: cell-surface protein expression, read by pet rather than by sequencing 80-95% depending on disease state"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"prostate","pct":">90","measure":"PSMA PET positivity, metastatic disease","source":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12796145/","note":"~10% PSMA-negative or low"},{"cancerId":"rcc","pct":"60-80","measure":"Neovascular PSMA expression","source":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12796145/","note":"Clear-cell; imaging studies"},{"cancerId":"prostate","pct":"80-95","measure":"Cell-surface protein expression, read by PET rather than by sequencing","source":"https://pubmed.ncbi.nlm.nih.gov/9815541/","note":"Immunohistochemistry across a panel of normal and malignant tissues found PSMA in 33 of 35 primary prostate adenocarcinomas, 7 of 8 lymph node metastases and 8 of 18 bone metastases, with detectable expression among normal tissues confined to prostatic epithelium, duodenal mucosa, a subset of proximal renal tubules and a subpopulation of neuroendocrine cells in colonic crypts; all other normal tissues, including cerebral cortex and cerebellum, were undetectable (Silver 1997). In practice the PET equivalent of that figure is the screening yield: 200 of 291 men screened for TheraP were eligible on imaging, 69%, with PSMA-low disease or FDG-positive PSMA-negative sites the reason for exclusion (Hofman 2021)."}]},{"id":"psma1","kind":"target","name":"PSMA1","aka":["proteasome 20S subunit alpha 1","Proteasome subunit alpha type-1","HC2","PROS30","MGC14542","MGC14575","MGC14751","MGC1667","MGC21459","MGC22853","MGC23915"],"tldr":"PSMA1 (Proteasome subunit alpha type-1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.77, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9530","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9530"},{"label":"UniProt P25786","url":"https://www.uniprot.org/uniprotkb/P25786/entry"},{"label":"NCBI Gene 5682","url":"https://www.ncbi.nlm.nih.gov/gene/5682"},{"label":"Ensembl ENSG00000129084","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129084"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMA1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9530","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9530","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25786","url":"https://www.uniprot.org/uniprotkb/P25786/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000129084","url":"https://platform.opentargets.org/target/ENSG00000129084/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMA1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMA1: RNA low tissue specificity; high antibody staining in 12 normal tissues; highest cancer staining urothelial cancer (3 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMA1 tissue","url":"https://www.proteinatlas.org/ENSG00000129084-PSMA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000129084 associations","url":"https://platform.opentargets.org/target/ENSG00000129084/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9530","ensembl":"ENSG00000129084","uniprot":"P25786","entrez":"5682","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: DeMartino G.N. et al, Biochim. Biophys. Acta, 1991, \"The primary structures of four subunits of the human, high-molecular-weight proteinase, macropain (proteasome), are distinct but homologous\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1888762/","biology":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 11p15.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psma2","kind":"target","name":"PSMA2","aka":["proteasome 20S subunit alpha 2","Proteasome subunit alpha type-2","HC3","PMSA2"],"tldr":"PSMA2 (Proteasome subunit alpha type-2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.79, genetic association 0.14, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9531","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9531"},{"label":"UniProt P25787","url":"https://www.uniprot.org/uniprotkb/P25787/entry"},{"label":"NCBI Gene 5683","url":"https://www.ncbi.nlm.nih.gov/gene/5683"},{"label":"Ensembl ENSG00000106588","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106588"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMA2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9531","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9531","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25787","url":"https://www.uniprot.org/uniprotkb/P25787/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000106588","url":"https://platform.opentargets.org/target/ENSG00000106588/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMA2 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMA2: RNA low tissue specificity; no normal tissue stained high; highest cancer staining liver cancer (2 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMA2 tissue","url":"https://www.proteinatlas.org/ENSG00000106588-PSMA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106588 associations","url":"https://platform.opentargets.org/target/ENSG00000106588/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9531","ensembl":"ENSG00000106588","uniprot":"P25787","entrez":"5683","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tamura et al, Biochim. Biophys. Acta, 1991, \"Molecular cloning and sequence analysis of cDNAs for five major subunits of human proteasomes (multi-catalytic proteinase complexes)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2025653/","biology":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 7p14.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psma3","kind":"target","name":"PSMA3","aka":["proteasome 20S subunit alpha 3","Proteasome subunit alpha type-3","HC8"],"tldr":"PSMA3 (Proteasome subunit alpha type-3) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9532","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9532"},{"label":"UniProt P25788","url":"https://www.uniprot.org/uniprotkb/P25788/entry"},{"label":"NCBI Gene 5684","url":"https://www.ncbi.nlm.nih.gov/gene/5684"},{"label":"Ensembl ENSG00000100567","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100567"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMA3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9532","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9532","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25788","url":"https://www.uniprot.org/uniprotkb/P25788/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100567","url":"https://platform.opentargets.org/target/ENSG00000100567/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.62, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMA3 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMA3: RNA low tissue specificity; high antibody staining in 10 normal tissues; highest cancer staining carcinoid (1 of 3 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMA3 tissue","url":"https://www.proteinatlas.org/ENSG00000100567-PSMA3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100567 associations","url":"https://platform.opentargets.org/target/ENSG00000100567/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9532","ensembl":"ENSG00000100567","uniprot":"P25788","entrez":"5684","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tamura et al, Biochim. Biophys. Acta, 1991, \"Molecular cloning and sequence analysis of cDNAs for five major subunits of human proteasomes (multi-catalytic proteinase complexes)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2025653/","biology":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 14q23.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.62 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psma4","kind":"target","name":"PSMA4","aka":["proteasome 20S subunit alpha 4","Proteasome subunit alpha type-4","HC9","HsT17706"],"tldr":"PSMA4 (Proteasome subunit alpha type-4) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.58, genetic association 0.50, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9533","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9533"},{"label":"UniProt P25789","url":"https://www.uniprot.org/uniprotkb/P25789/entry"},{"label":"NCBI Gene 5685","url":"https://www.ncbi.nlm.nih.gov/gene/5685"},{"label":"Ensembl ENSG00000041357","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000041357"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMA4","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9533","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9533","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P25789","url":"https://www.uniprot.org/uniprotkb/P25789/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000041357","url":"https://platform.opentargets.org/target/ENSG00000041357/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: plasma cell myeloma 0.62, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMA4 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMA4: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining head and neck cancer (3 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMA4 tissue","url":"https://www.proteinatlas.org/ENSG00000041357-PSMA4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000041357 associations","url":"https://platform.opentargets.org/target/ENSG00000041357/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9533","ensembl":"ENSG00000041357","uniprot":"P25789","entrez":"5685","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tamura et al, Biochim. Biophys. Acta, 1991, \"Molecular cloning and sequence analysis of cDNAs for five major subunits of human proteasomes (multi-catalytic proteinase complexes)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2025653/","biology":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 15q25.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.62 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psma5","kind":"target","name":"PSMA5","aka":["proteasome 20S subunit alpha 5","Proteasome subunit alpha type-5"],"tldr":"PSMA5 (Proteasome subunit alpha type-5) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.87, animal model 0.49, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9534","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9534"},{"label":"UniProt P28066","url":"https://www.uniprot.org/uniprotkb/P28066/entry"},{"label":"NCBI Gene 5686","url":"https://www.ncbi.nlm.nih.gov/gene/5686"},{"label":"Ensembl ENSG00000143106","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143106"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMA5","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9534","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9534","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P28066","url":"https://www.uniprot.org/uniprotkb/P28066/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143106","url":"https://platform.opentargets.org/target/ENSG00000143106/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMA5 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMA5: RNA low tissue specificity; no normal tissue stained high; highest cancer staining liver cancer (9 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMA5 tissue","url":"https://www.proteinatlas.org/ENSG00000143106-PSMA5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143106 associations","url":"https://platform.opentargets.org/target/ENSG00000143106/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9534","ensembl":"ENSG00000143106","uniprot":"P28066","entrez":"5686","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: DeMartino G.N. et al, Biochim. Biophys. Acta, 1991, \"The primary structures of four subunits of the human, high-molecular-weight proteinase, macropain (proteasome), are distinct but homologous\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1888762/","biology":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 1p13.3 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psma6","kind":"target","name":"PSMA6","aka":["proteasome 20S subunit alpha 6","Proteasome subunit alpha type-6","PROS27","p27K","MGC22756","MGC2333","MGC23846"],"tldr":"PSMA6 (Proteasome subunit alpha type-6) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.23, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9535","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9535"},{"label":"UniProt P60900","url":"https://www.uniprot.org/uniprotkb/P60900/entry"},{"label":"NCBI Gene 5687","url":"https://www.ncbi.nlm.nih.gov/gene/5687"},{"label":"Ensembl ENSG00000100902","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100902"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMA6","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9535","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9535","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P60900","url":"https://www.uniprot.org/uniprotkb/P60900/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100902","url":"https://platform.opentargets.org/target/ENSG00000100902/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMA6 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMA6: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining carcinoid (3 of 3 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMA6 tissue","url":"https://www.proteinatlas.org/ENSG00000100902-PSMA6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100902 associations","url":"https://platform.opentargets.org/target/ENSG00000100902/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9535","ensembl":"ENSG00000100902","uniprot":"P60900","entrez":"5687","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: DeMartino G.N. et al, Biochim. Biophys. Acta, 1991, \"The primary structures of four subunits of the human, high-molecular-weight proteinase, macropain (proteasome), are distinct but homologous\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1888762/","biology":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 14q13.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psma7","kind":"target","name":"PSMA7","aka":["proteasome 20S subunit alpha 7","Proteasome subunit alpha type-7","XAPC7","C6","RC6-1"],"tldr":"PSMA7 (Proteasome subunit alpha type-7) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.04, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9536","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9536"},{"label":"UniProt O14818","url":"https://www.uniprot.org/uniprotkb/O14818/entry"},{"label":"NCBI Gene 5688","url":"https://www.ncbi.nlm.nih.gov/gene/5688"},{"label":"Ensembl ENSG00000101182","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101182"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMA7","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9536","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9536","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14818","url":"https://www.uniprot.org/uniprotkb/O14818/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000101182","url":"https://platform.opentargets.org/target/ENSG00000101182/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMA7 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMA7: RNA tissue enhanced (skeletal muscle 740 nTPM); high antibody staining in 26 normal tissues; highest cancer staining endometrial cancer (12 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMA7 tissue","url":"https://www.proteinatlas.org/ENSG00000101182-PSMA7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000101182 associations","url":"https://platform.opentargets.org/target/ENSG00000101182/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9536","ensembl":"ENSG00000101182","uniprot":"O14818","entrez":"5688","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Huang et al, J. Virol, 1996, \"Proteasome complex as a potential cellular target of hepatitis B virus X protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8764072/","biology":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 20q13.33 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psma8","kind":"target","name":"PSMA8","aka":["proteasome 20S subunit alpha 8","Proteasome subunit alpha-type 8","MGC26605","PSMA7L"],"tldr":"PSMA8 (Proteasome subunit alpha-type 8) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the spermatoproteasome, a proteasome specifically found in testis that promotes acetylation-dependent degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a protein complex that degrades unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds. Required for 20S core proteasome assembly, essential for the degradation of meiotic proteins RAD51 and RPA1 at late prophase I and the progression of meiosis I during spermatogenesis.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.09, genetic association 0.09, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:22985","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22985"},{"label":"UniProt Q8TAA3","url":"https://www.uniprot.org/uniprotkb/Q8TAA3/entry"},{"label":"NCBI Gene 143471","url":"https://www.ncbi.nlm.nih.gov/gene/143471"},{"label":"Ensembl ENSG00000154611","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000154611"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMA8","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:22985","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22985","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8TAA3","url":"https://www.uniprot.org/uniprotkb/Q8TAA3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000154611","url":"https://platform.opentargets.org/target/ENSG00000154611/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PSMA8: RNA tissue enriched (testis 16 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PSMA8 tissue","url":"https://www.proteinatlas.org/ENSG00000154611-PSMA8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000154611 associations","url":"https://platform.opentargets.org/target/ENSG00000154611/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:22985","ensembl":"ENSG00000154611","uniprot":"Q8TAA3","entrez":"143471","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Component of the spermatoproteasome, a proteasome specifically found in testis that promotes acetylation-dependent degradation of histones, thereby participating actively to the exchange of histones during spermatogenesis. The proteasome is a protein complex that degrades unneeded or damaged proteins by proteolysis, a chemical reaction that breaks peptide bonds. Required for 20S core proteasome assembly, essential for the degradation of meiotic proteins RAD51 and RPA1 at late prophase I and the progression of meiosis I during spermatogenesis. Localises to the synaptonemal complex, a 'zipper'-like structure that holds homologous chromosome pairs in synapsis during meiotic prophase I. Location: Nucleus (UniProt). Locus 18q11.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmb1","kind":"target","name":"PSMB1","aka":["proteasome 20S subunit beta 1","Proteasome subunit beta type-1","PMSB1","HC5"],"tldr":"PSMB1 (Proteasome subunit beta type-1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.63, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9537","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9537"},{"label":"UniProt P20618","url":"https://www.uniprot.org/uniprotkb/P20618/entry"},{"label":"NCBI Gene 5689","url":"https://www.ncbi.nlm.nih.gov/gene/5689"},{"label":"Ensembl ENSG00000008018","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000008018"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9537","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9537","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20618","url":"https://www.uniprot.org/uniprotkb/P20618/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000008018","url":"https://platform.opentargets.org/target/ENSG00000008018/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMB1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMB1: RNA low tissue specificity; high antibody staining in 17 normal tissues; highest cancer staining endometrial cancer (11 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMB1 tissue","url":"https://www.proteinatlas.org/ENSG00000008018-PSMB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000008018 associations","url":"https://platform.opentargets.org/target/ENSG00000008018/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9537","ensembl":"ENSG00000008018","uniprot":"P20618","entrez":"5689","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee L.W. et al, Biochim. Biophys. Acta, 1990, \"Relationships among the subunits of the high molecular weight proteinase, macropain (proteasome)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2306472/","biology":"Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 6q27 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmb10","kind":"target","name":"PSMB10","aka":["proteasome 20S subunit beta 10","Proteasome subunit beta type-10","LMP10","MGC1665","beta2i","MECL1"],"tldr":"PSMB10 (Proteasome subunit beta type-10) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"The proteasome is a multicatalytic proteinase complex which is characterised by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.75, animal model 0.45, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9538","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9538"},{"label":"UniProt P40306","url":"https://www.uniprot.org/uniprotkb/P40306/entry"},{"label":"NCBI Gene 5699","url":"https://www.ncbi.nlm.nih.gov/gene/5699"},{"label":"Ensembl ENSG00000205220","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000205220"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB10","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9538","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9538","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P40306","url":"https://www.uniprot.org/uniprotkb/P40306/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000205220","url":"https://platform.opentargets.org/target/ENSG00000205220/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.58, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PSMB10: RNA tissue enhanced (lymphoid tissue 136 nTPM); high antibody staining in 11 normal tissues; highest cancer staining lymphoma (5 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PSMB10 tissue","url":"https://www.proteinatlas.org/ENSG00000205220-PSMB10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000205220 associations","url":"https://platform.opentargets.org/target/ENSG00000205220/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9538","ensembl":"ENSG00000205220","uniprot":"P40306","entrez":"5699","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Larsen et al, Hum. Mol. Genet, 1993, \"A tight cluster of five unrelated human genes on chromosome 16q22.1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8268911/","biology":"The proteasome is a multicatalytic proteinase complex which is characterised by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Location: Cytoplasm; Nucleus (UniProt). Locus 16q22.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.58 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"enzyme","prevalence":[]},{"id":"psmb11","kind":"target","name":"PSMB11","aka":["proteasome subunit beta 11","Proteasome subunit beta type-11","beta5t"],"tldr":"PSMB11 (Proteasome subunit beta type-11) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"The proteasome is a multicatalytic proteinase complex which is characterised by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Incorporated instead of PSMB5 or PSMB8, this unit reduces the chymotrypsin-like activity of the proteasome.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.12, animal model 0.43, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:31963","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31963"},{"label":"UniProt A5LHX3","url":"https://www.uniprot.org/uniprotkb/A5LHX3/entry"},{"label":"NCBI Gene 122706","url":"https://www.ncbi.nlm.nih.gov/gene/122706"},{"label":"Ensembl ENSG00000222028","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000222028"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB11","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:31963","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:31963","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt A5LHX3","url":"https://www.uniprot.org/uniprotkb/A5LHX3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000222028","url":"https://platform.opentargets.org/target/ENSG00000222028/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.58, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PSMB11: RNA tissue enriched (lymphoid tissue 29 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PSMB11 tissue","url":"https://www.proteinatlas.org/ENSG00000222028-PSMB11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000222028 associations","url":"https://platform.opentargets.org/target/ENSG00000222028/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:31963","ensembl":"ENSG00000222028","uniprot":"A5LHX3","entrez":"122706","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Heilig et al, Nature, 2003, \"The DNA sequence and analysis of human chromosome 14\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12508121/","biology":"The proteasome is a multicatalytic proteinase complex which is characterised by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Incorporated instead of PSMB5 or PSMB8, this unit reduces the chymotrypsin-like activity of the proteasome. Plays a pivotal role in development of CD8-positive T cells. Location: Cytoplasm; Nucleus (UniProt). Locus 14q11.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.58 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"enzyme","prevalence":[]},{"id":"psmb2","kind":"target","name":"PSMB2","aka":["proteasome 20S subunit beta 2","Proteasome subunit beta type-2","HC7-I"],"tldr":"PSMB2 (Proteasome subunit beta type-2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.74, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9539"},{"label":"UniProt P49721","url":"https://www.uniprot.org/uniprotkb/P49721/entry"},{"label":"NCBI Gene 5690","url":"https://www.ncbi.nlm.nih.gov/gene/5690"},{"label":"Ensembl ENSG00000126067","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126067"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9539","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49721","url":"https://www.uniprot.org/uniprotkb/P49721/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000126067","url":"https://platform.opentargets.org/target/ENSG00000126067/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMB2 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMB2: RNA low tissue specificity; high antibody staining in 23 normal tissues; highest cancer staining renal cancer (1 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMB2 tissue","url":"https://www.proteinatlas.org/ENSG00000126067-PSMB2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000126067 associations","url":"https://platform.opentargets.org/target/ENSG00000126067/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9539","ensembl":"ENSG00000126067","uniprot":"P49721","entrez":"5690","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rasmussen H.H. et al, Electrophoresis, 1992, \"Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1286667/","biology":"Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 1p34.3 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmb3","kind":"target","name":"PSMB3","aka":["proteasome 20S subunit beta 3","Proteasome subunit beta type-3","HC10-II","MGC4147"],"tldr":"PSMB3 (Proteasome subunit beta type-3) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.63, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9540","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9540"},{"label":"UniProt P49720","url":"https://www.uniprot.org/uniprotkb/P49720/entry"},{"label":"NCBI Gene 5691","url":"https://www.ncbi.nlm.nih.gov/gene/5691"},{"label":"Ensembl ENSG00000277791","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000277791"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9540","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9540","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49720","url":"https://www.uniprot.org/uniprotkb/P49720/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000277791","url":"https://platform.opentargets.org/target/ENSG00000277791/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMB3 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMB3: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining head and neck cancer (1 of 3 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMB3 tissue","url":"https://www.proteinatlas.org/ENSG00000277791-PSMB3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000277791 associations","url":"https://platform.opentargets.org/target/ENSG00000277791/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9540","ensembl":"ENSG00000277791","uniprot":"P49720","entrez":"5691","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rasmussen H.H. et al, Electrophoresis, 1992, \"Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1286667/","biology":"Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 17q12 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmb4","kind":"target","name":"PSMB4","aka":["proteasome 20S subunit beta 4","Proteasome subunit beta type-4","HN3","PROS26"],"tldr":"PSMB4 (Proteasome subunit beta type-4) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.82, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9541","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9541"},{"label":"UniProt P28070","url":"https://www.uniprot.org/uniprotkb/P28070/entry"},{"label":"NCBI Gene 5692","url":"https://www.ncbi.nlm.nih.gov/gene/5692"},{"label":"Ensembl ENSG00000159377","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159377"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB4","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9541","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9541","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P28070","url":"https://www.uniprot.org/uniprotkb/P28070/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000159377","url":"https://platform.opentargets.org/target/ENSG00000159377/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMB4 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMB4: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining testis cancer (1 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMB4 tissue","url":"https://www.proteinatlas.org/ENSG00000159377-PSMB4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000159377 associations","url":"https://platform.opentargets.org/target/ENSG00000159377/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9541","ensembl":"ENSG00000159377","uniprot":"P28070","entrez":"5692","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee L.W. et al, Biochim. Biophys. Acta, 1990, \"Relationships among the subunits of the high molecular weight proteinase, macropain (proteasome)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2306472/","biology":"Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 1q21.3 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmb6","kind":"target","name":"PSMB6","aka":["proteasome 20S subunit beta 6","Proteasome subunit beta type-6","DELTA"],"tldr":"PSMB6 (Proteasome subunit beta type-6) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.66, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9543","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9543"},{"label":"UniProt P28072","url":"https://www.uniprot.org/uniprotkb/P28072/entry"},{"label":"NCBI Gene 5694","url":"https://www.ncbi.nlm.nih.gov/gene/5694"},{"label":"Ensembl ENSG00000142507","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142507"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB6","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9543","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9543","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P28072","url":"https://www.uniprot.org/uniprotkb/P28072/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000142507","url":"https://platform.opentargets.org/target/ENSG00000142507/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMB6 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMB6: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining endometrial cancer (6 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMB6 tissue","url":"https://www.proteinatlas.org/ENSG00000142507-PSMB6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000142507 associations","url":"https://platform.opentargets.org/target/ENSG00000142507/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9543","ensembl":"ENSG00000142507","uniprot":"P28072","entrez":"5694","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee L.W. et al, Biochim. Biophys. Acta, 1990, \"Relationships among the subunits of the high molecular weight proteinase, macropain (proteasome)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2306472/","biology":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 17p13.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"enzyme","prevalence":[]},{"id":"psmb7","kind":"target","name":"PSMB7","aka":["proteasome 20S subunit beta 7","Proteasome subunit beta type-7"],"tldr":"PSMB7 (Proteasome subunit beta type-7) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.26, genetic association 0.36, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9544","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9544"},{"label":"UniProt Q99436","url":"https://www.uniprot.org/uniprotkb/Q99436/entry"},{"label":"NCBI Gene 5695","url":"https://www.ncbi.nlm.nih.gov/gene/5695"},{"label":"Ensembl ENSG00000136930","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136930"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB7","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9544","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9544","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99436","url":"https://www.uniprot.org/uniprotkb/Q99436/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136930","url":"https://platform.opentargets.org/target/ENSG00000136930/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMB7 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMB7: RNA low tissue specificity; high antibody staining in 32 normal tissues; highest cancer staining testis cancer (11 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMB7 tissue","url":"https://www.proteinatlas.org/ENSG00000136930-PSMB7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136930 associations","url":"https://platform.opentargets.org/target/ENSG00000136930/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9544","ensembl":"ENSG00000136930","uniprot":"Q99436","entrez":"5695","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hisamatsu et al, J. Exp. Med, 1996, \"Newly identified pair of proteasomal subunits regulated reciprocally by interferon gamma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8666937/","biology":"Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Location: Cytoplasm; Nucleus (UniProt). Locus 9q33.3 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"enzyme","prevalence":[]},{"id":"psmb8","kind":"target","name":"PSMB8","aka":["proteasome 20S subunit beta 8","Proteasome subunit beta type-8","RING10","D6S216E","PSMB5i","beta5i","LMP7"],"tldr":"PSMB8 (Proteasome subunit beta type-8) is an enzyme. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Gastric & gastro-oesophageal junction cancer, Non-Hodgkin lymphoma and 1 more.","summary":"The proteasome is a multicatalytic proteinase complex which is characterised by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9545","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9545"},{"label":"UniProt P28062","url":"https://www.uniprot.org/uniprotkb/P28062/entry"},{"label":"NCBI Gene 5696","url":"https://www.ncbi.nlm.nih.gov/gene/5696"},{"label":"Ensembl ENSG00000204264","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204264"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["multiple-myeloma","gastric","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB8","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9545","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9545","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P28062","url":"https://www.uniprot.org/uniprotkb/P28062/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PSMB8","url":"https://civicdb.org/features/4616","note":"1 evidence items, 0 assertions, 1 variants; diseases: Gastric Adenocarcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000204264","url":"https://platform.opentargets.org/target/ENSG00000204264/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.62, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMB8: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining renal cancer (11 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Gastric & gastro-oesophageal junction cancer, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMB8 tissue","url":"https://www.proteinatlas.org/ENSG00000204264-PSMB8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000204264 associations","url":"https://platform.opentargets.org/target/ENSG00000204264/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9545","ensembl":"ENSG00000204264","uniprot":"P28062","entrez":"5696","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Glynne et al, Nature, 1991, \"A proteasome-related gene between the two ABC transporter loci in the class II region of the human MHC\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1922342/","biology":"The proteasome is a multicatalytic proteinase complex which is characterised by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB5 by PSMB8 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Involved in the generation of spliced peptides resulting from the ligation of two separate proteasomal cleavage products that are not contiguous in the parental protein. Acts as a major component of interferon gamma-induced sensitivity. Location: Cytoplasm; Nucleus (UniProt). Locus 6p21.32 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.62 with plasma cell myeloma (MONDO_0009693)","Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"enzyme","prevalence":[]},{"id":"psmb9","kind":"target","name":"PSMB9","aka":["proteasome 20S subunit beta 9","Proteasome subunit beta type-9","RING12","beta1i","PSMB6i","LMP2"],"tldr":"PSMB9 (Proteasome subunit beta type-9) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"The proteasome is a multicatalytic proteinase complex which is characterised by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9546","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9546"},{"label":"UniProt P28065","url":"https://www.uniprot.org/uniprotkb/P28065/entry"},{"label":"NCBI Gene 5698","url":"https://www.ncbi.nlm.nih.gov/gene/5698"},{"label":"Ensembl ENSG00000240065","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000240065"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMB9","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9546","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9546","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P28065","url":"https://www.uniprot.org/uniprotkb/P28065/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000240065","url":"https://platform.opentargets.org/target/ENSG00000240065/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PSMB9: RNA tissue enhanced (lymphoid tissue 140 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PSMB9 tissue","url":"https://www.proteinatlas.org/ENSG00000240065-PSMB9/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000240065 associations","url":"https://platform.opentargets.org/target/ENSG00000240065/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9546","ensembl":"ENSG00000240065","uniprot":"P28065","entrez":"5698","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kelly et al, Nature, 1991, \"Second proteasome-related gene in the human MHC class II region\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1922385/","biology":"The proteasome is a multicatalytic proteinase complex which is characterised by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. This subunit is involved in antigen processing to generate class I binding peptides. Replacement of PSMB6 by PSMB9 increases the capacity of the immunoproteasome to cleave model peptides after hydrophobic and basic residues. Location: Cytoplasm; Nucleus (UniProt). Locus 6p21.32 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"enzyme","prevalence":[]},{"id":"psmc1","kind":"target","name":"PSMC1","aka":["proteasome 26S subunit, ATPase 1","26S proteasome regulatory subunit 4","S4","p56","RPT2"],"tldr":"PSMC1 (26S proteasome regulatory subunit 4) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.74, genetic association 0.04, somatic mutation 0.23, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9547","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9547"},{"label":"UniProt P62191","url":"https://www.uniprot.org/uniprotkb/P62191/entry"},{"label":"NCBI Gene 5700","url":"https://www.ncbi.nlm.nih.gov/gene/5700"},{"label":"Ensembl ENSG00000100764","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100764"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMC1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9547","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9547","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62191","url":"https://www.uniprot.org/uniprotkb/P62191/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100764","url":"https://platform.opentargets.org/target/ENSG00000100764/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMC1 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMC1: RNA tissue enhanced (skeletal muscle 295 nTPM); high antibody staining in 12 normal tissues; highest cancer staining glioma (1 of 9 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMC1 tissue","url":"https://www.proteinatlas.org/ENSG00000100764-PSMC1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100764 associations","url":"https://platform.opentargets.org/target/ENSG00000100764/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9547","ensembl":"ENSG00000100764","uniprot":"P62191","entrez":"5700","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dubiel et al, J. Biol. Chem, 1992, \"Subunit 4 of the 26 S protease is a member of a novel eukaryotic ATPase family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1429620/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC1 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. Location: Cytoplasm; Nucleus; Membrane (UniProt). Locus 14q32.11 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmc2","kind":"target","name":"PSMC2","aka":["proteasome 26S subunit, ATPase 2","26S proteasome regulatory subunit 7","MSS1","S7","Nbla10058","RPT1"],"tldr":"PSMC2 (26S proteasome regulatory subunit 7) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9548","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9548"},{"label":"UniProt P35998","url":"https://www.uniprot.org/uniprotkb/P35998/entry"},{"label":"NCBI Gene 5701","url":"https://www.ncbi.nlm.nih.gov/gene/5701"},{"label":"Ensembl ENSG00000161057","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000161057"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMC2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9548","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9548","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35998","url":"https://www.uniprot.org/uniprotkb/P35998/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000161057","url":"https://platform.opentargets.org/target/ENSG00000161057/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMC2 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMC2: RNA low tissue specificity; high antibody staining in 24 normal tissues; highest cancer staining testis cancer (11 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMC2 tissue","url":"https://www.proteinatlas.org/ENSG00000161057-PSMC2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000161057 associations","url":"https://platform.opentargets.org/target/ENSG00000161057/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9548","ensembl":"ENSG00000161057","uniprot":"P35998","entrez":"5701","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shibuya et al, Nature, 1992, \"New human gene encoding a positive modulator of HIV Tat-mediated transactivation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1377363/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC2 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. Location: Cytoplasm (UniProt). Locus 7q22.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmc3","kind":"target","name":"PSMC3","aka":["proteasome 26S subunit, ATPase 3","26S proteasome regulatory subunit 6A","TBP1","TBP-1","RPT5"],"tldr":"PSMC3 (26S proteasome regulatory subunit 6A) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.38, genetic association 0.04, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9549","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9549"},{"label":"UniProt P17980","url":"https://www.uniprot.org/uniprotkb/P17980/entry"},{"label":"NCBI Gene 5702","url":"https://www.ncbi.nlm.nih.gov/gene/5702"},{"label":"Ensembl ENSG00000165916","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165916"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMC3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9549","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9549","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P17980","url":"https://www.uniprot.org/uniprotkb/P17980/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000165916","url":"https://platform.opentargets.org/target/ENSG00000165916/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMC3 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMC3: RNA low tissue specificity; high antibody staining in 28 normal tissues; highest cancer staining lymphoma (9 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMC3 tissue","url":"https://www.proteinatlas.org/ENSG00000165916-PSMC3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000165916 associations","url":"https://platform.opentargets.org/target/ENSG00000165916/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9549","ensembl":"ENSG00000165916","uniprot":"P17980","entrez":"5702","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nelbock et al, Science, 1990, \"A cDNA for a protein that interacts with the human immunodeficiency virus Tat transactivator\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2194290/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC3 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. Location: Cytoplasm; Nucleus (UniProt). Locus 11p11.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmc4","kind":"target","name":"PSMC4","aka":["proteasome 26S subunit, ATPase 4","26S proteasome regulatory subunit 6B","TBP7","S6","MGC8570","MGC13687","MGC23214","TBP-7","RPT3","MIP224"],"tldr":"PSMC4 (26S proteasome regulatory subunit 6B) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.66, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9551","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9551"},{"label":"UniProt P43686","url":"https://www.uniprot.org/uniprotkb/P43686/entry"},{"label":"NCBI Gene 5704","url":"https://www.ncbi.nlm.nih.gov/gene/5704"},{"label":"Ensembl ENSG00000013275","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000013275"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMC4","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9551","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9551","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P43686","url":"https://www.uniprot.org/uniprotkb/P43686/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000013275","url":"https://platform.opentargets.org/target/ENSG00000013275/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMC4 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMC4: RNA low tissue specificity; no normal tissue stained high; highest cancer staining liver cancer (2 of 9 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMC4 tissue","url":"https://www.proteinatlas.org/ENSG00000013275-PSMC4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000013275 associations","url":"https://platform.opentargets.org/target/ENSG00000013275/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9551","ensembl":"ENSG00000013275","uniprot":"P43686","entrez":"5704","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohana et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"The type 1 human immunodeficiency virus Tat binding protein is a transcriptional activator belonging to an additional family of evolutionarily conserved genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8419915/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC4 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. Location: Cytoplasm; Nucleus (UniProt). Locus 19q13.11-q13.13 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmc5","kind":"target","name":"PSMC5","aka":["proteasome 26S subunit, ATPase 5","26S proteasome regulatory subunit 8","SUG1","p45/SUG","TBP10","p45","S8","TRIP1","SUG-1","RPT6"],"tldr":"PSMC5 (26S proteasome regulatory subunit 8) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.82, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9552","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9552"},{"label":"UniProt P62195","url":"https://www.uniprot.org/uniprotkb/P62195/entry"},{"label":"NCBI Gene 5705","url":"https://www.ncbi.nlm.nih.gov/gene/5705"},{"label":"Ensembl ENSG00000087191","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000087191"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMC5","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9552","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9552","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62195","url":"https://www.uniprot.org/uniprotkb/P62195/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000087191","url":"https://platform.opentargets.org/target/ENSG00000087191/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMC5 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMC5: RNA low tissue specificity; high antibody staining in 19 normal tissues; highest cancer staining glioma (3 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMC5 tissue","url":"https://www.proteinatlas.org/ENSG00000087191-PSMC5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000087191 associations","url":"https://platform.opentargets.org/target/ENSG00000087191/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9552","ensembl":"ENSG00000087191","uniprot":"P62195","entrez":"5705","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Akiyama et al, FEBS Lett, 1995, \"cDNA cloning of a new putative ATPase subunit p45 of the human 26S proteasome, a homolog of yeast transcriptional factor Sug1p\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7729537/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC5 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. Location: Cytoplasm; Nucleus (UniProt). Locus 17q23.3 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmc6","kind":"target","name":"PSMC6","aka":["proteasome 26S subunit, ATPase 6","26S proteasome regulatory subunit 10B","p42","RPT5"],"tldr":"PSMC6 (26S proteasome regulatory subunit 10B) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.52, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9553","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9553"},{"label":"UniProt P62333","url":"https://www.uniprot.org/uniprotkb/P62333/entry"},{"label":"NCBI Gene 5706","url":"https://www.ncbi.nlm.nih.gov/gene/5706"},{"label":"Ensembl ENSG00000100519","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100519"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMC6","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9553","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9553","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62333","url":"https://www.uniprot.org/uniprotkb/P62333/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100519","url":"https://platform.opentargets.org/target/ENSG00000100519/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMC6 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMC6: RNA low tissue specificity; high antibody staining in 8 normal tissues; highest cancer staining colorectal cancer (2 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMC6 tissue","url":"https://www.proteinatlas.org/ENSG00000100519-PSMC6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100519 associations","url":"https://platform.opentargets.org/target/ENSG00000100519/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9553","ensembl":"ENSG00000100519","uniprot":"P62333","entrez":"5706","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fujiwara et al, FEBS Lett, 1996, \"cDNA cloning of p42, a shared subunit of two proteasome regulatory proteins, reveals a novel member of the AAA protein family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8674546/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC6 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. Location: Cytoplasm; Nucleus (UniProt). Locus 14q22.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd1","kind":"target","name":"PSMD1","aka":["proteasome 26S subunit, non-ATPase 1","26S proteasome non-ATPase regulatory subunit 1","S1","P112","Rpn2"],"tldr":"PSMD1 (26S proteasome non-ATPase regulatory subunit 1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9554","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9554"},{"label":"UniProt Q99460","url":"https://www.uniprot.org/uniprotkb/Q99460/entry"},{"label":"NCBI Gene 5707","url":"https://www.ncbi.nlm.nih.gov/gene/5707"},{"label":"Ensembl ENSG00000173692","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173692"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9554","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9554","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99460","url":"https://www.uniprot.org/uniprotkb/Q99460/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000173692","url":"https://platform.opentargets.org/target/ENSG00000173692/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD1: RNA low tissue specificity; high antibody staining in 16 normal tissues; highest cancer staining skin cancer (5 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD1 tissue","url":"https://www.proteinatlas.org/ENSG00000173692-PSMD1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000173692 associations","url":"https://platform.opentargets.org/target/ENSG00000173692/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9554","ensembl":"ENSG00000173692","uniprot":"Q99460","entrez":"5707","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yokota et al, Mol. Biol. Cell, 1996, \"cDNA cloning of p112, the largest regulatory subunit of the human 26s proteasome, and functional analysis of its yeast homologue, sen3p\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8816993/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Locus 2q37.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd11","kind":"target","name":"PSMD11","aka":["proteasome 26S subunit, non-ATPase 11","26S proteasome non-ATPase regulatory subunit 11","S9","p44.5","MGC3844","Rpn6"],"tldr":"PSMD11 (26S proteasome non-ATPase regulatory subunit 11) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.88, genetic association 0.17, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9556","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9556"},{"label":"UniProt O00231","url":"https://www.uniprot.org/uniprotkb/O00231/entry"},{"label":"NCBI Gene 5717","url":"https://www.ncbi.nlm.nih.gov/gene/5717"},{"label":"Ensembl ENSG00000108671","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108671"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD11","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9556","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9556","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00231","url":"https://www.uniprot.org/uniprotkb/O00231/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108671","url":"https://platform.opentargets.org/target/ENSG00000108671/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD11 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD11: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining melanoma (4 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD11 tissue","url":"https://www.proteinatlas.org/ENSG00000108671-PSMD11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108671 associations","url":"https://platform.opentargets.org/target/ENSG00000108671/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9556","ensembl":"ENSG00000108671","uniprot":"O00231","entrez":"5717","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hoffman et al, FEBS Lett, 1997, \"Molecular cloning and expression of subunit 9 of the 26S proteasome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9119060/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. In the complex, PSMD11 is required for proteasome assembly. Plays a key role in increased proteasome activity in embryonic stem cells (ESCs): its high expression in ESCs promotes enhanced assembly of the 26S proteasome, followed by higher proteasome activity. Location: Nucleus; Cytoplasm, cytosol (UniProt). Locus 17q11.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd12","kind":"target","name":"PSMD12","aka":["proteasome 26S subunit, non-ATPase 12","26S proteasome non-ATPase regulatory subunit 12","p55","Rpn5"],"tldr":"PSMD12 (26S proteasome non-ATPase regulatory subunit 12) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.09, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9557","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9557"},{"label":"UniProt O00232","url":"https://www.uniprot.org/uniprotkb/O00232/entry"},{"label":"NCBI Gene 5718","url":"https://www.ncbi.nlm.nih.gov/gene/5718"},{"label":"Ensembl ENSG00000197170","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197170"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD12","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9557","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9557","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00232","url":"https://www.uniprot.org/uniprotkb/O00232/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000197170","url":"https://platform.opentargets.org/target/ENSG00000197170/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD12 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD12: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining testis cancer (2 of 9 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD12 tissue","url":"https://www.proteinatlas.org/ENSG00000197170-PSMD12/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197170 associations","url":"https://platform.opentargets.org/target/ENSG00000197170/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9557","ensembl":"ENSG00000197170","uniprot":"O00232","entrez":"5718","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Saito et al, Gene, 1997, \"cDNA cloning and functional analysis of p44.5 and p55, two regulatory subunits of the 26S proteasome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9426256/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Locus 17q24.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd13","kind":"target","name":"PSMD13","aka":["proteasome 26S subunit, non-ATPase 13","26S proteasome non-ATPase regulatory subunit 13","p40.5","Rpn9"],"tldr":"PSMD13 (26S proteasome non-ATPase regulatory subunit 13) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.64, genetic association 0.03, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9558","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9558"},{"label":"UniProt Q9UNM6","url":"https://www.uniprot.org/uniprotkb/Q9UNM6/entry"},{"label":"NCBI Gene 5719","url":"https://www.ncbi.nlm.nih.gov/gene/5719"},{"label":"Ensembl ENSG00000185627","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185627"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD13","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9558","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9558","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UNM6","url":"https://www.uniprot.org/uniprotkb/Q9UNM6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000185627","url":"https://platform.opentargets.org/target/ENSG00000185627/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD13 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD13: RNA low tissue specificity; high antibody staining in 5 normal tissues; highest cancer staining testis cancer (7 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD13 tissue","url":"https://www.proteinatlas.org/ENSG00000185627-PSMD13/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185627 associations","url":"https://platform.opentargets.org/target/ENSG00000185627/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9558","ensembl":"ENSG00000185627","uniprot":"Q9UNM6","entrez":"5719","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hori et al, Gene, 1998, \"cDNA cloning and functional analysis of p28 (Nas6p) and p40.5 (Nas7p), two novel regulatory subunits of the 26S proteasome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9714768/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Locus 11p15.5 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd14","kind":"target","name":"PSMD14","aka":["proteasome 26S subunit, non-ATPase 14","Ubiquitin C-terminal hydrolase PSMD14","POH1","pad1","Rpn11"],"tldr":"PSMD14 (Ubiquitin C-terminal hydrolase PSMD14) is an enzyme. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.03, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16889","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16889"},{"label":"UniProt O00487","url":"https://www.uniprot.org/uniprotkb/O00487/entry"},{"label":"NCBI Gene 10213","url":"https://www.ncbi.nlm.nih.gov/gene/10213"},{"label":"Ensembl ENSG00000115233","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115233"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD14","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:16889","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16889","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00487","url":"https://www.uniprot.org/uniprotkb/O00487/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000115233","url":"https://platform.opentargets.org/target/ENSG00000115233/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD14 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD14: RNA low tissue specificity; no normal tissue stained high; highest cancer staining glioma (5 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD14 tissue","url":"https://www.proteinatlas.org/ENSG00000115233-PSMD14/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115233 associations","url":"https://platform.opentargets.org/target/ENSG00000115233/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16889","ensembl":"ENSG00000115233","uniprot":"O00487","entrez":"10213","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Spataro et al, J. Biol. Chem, 1997, \"Resistance to diverse drugs and ultraviolet light conferred by overexpression of a novel human 26 S proteasome subunit\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9374539/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. The PSMD14 subunit is a metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains within the complex. Plays a role in response to double-strand breaks (DSBs): acts as a regulator of non-homologous end joining (NHEJ) by cleaving 'Lys-63'-linked polyubiquitin, thereby promoting retention of JMJD2A/KDM4A on chromatin and restricting TP53BP1 accumulation. Also involved in homologous recombination repair by promoting RAD51 loading. Locus 2q24.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"enzyme","prevalence":[]},{"id":"psmd2","kind":"target","name":"PSMD2","aka":["proteasome 26S subunit ubiquitin receptor, non-ATPase 2","26S proteasome non-ATPase regulatory subunit 2","S2","P97","TRAP2","MGC14274","Rpn1"],"tldr":"PSMD2 (26S proteasome non-ATPase regulatory subunit 2) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9559","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9559"},{"label":"UniProt Q13200","url":"https://www.uniprot.org/uniprotkb/Q13200/entry"},{"label":"NCBI Gene 5708","url":"https://www.ncbi.nlm.nih.gov/gene/5708"},{"label":"Ensembl ENSG00000175166","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175166"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9559","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9559","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13200","url":"https://www.uniprot.org/uniprotkb/Q13200/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000175166","url":"https://platform.opentargets.org/target/ENSG00000175166/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD2 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD2: RNA tissue enhanced (skeletal muscle 300 nTPM); high antibody staining in 24 normal tissues; highest cancer staining melanoma (9 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD2 tissue","url":"https://www.proteinatlas.org/ENSG00000175166-PSMD2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000175166 associations","url":"https://platform.opentargets.org/target/ENSG00000175166/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9559","ensembl":"ENSG00000175166","uniprot":"Q13200","entrez":"5708","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Boldin M.P. et al, FEBS Lett, 1995, \"A protein related to a proteasomal subunit binds to the intracellular domain of the p55 TNF receptor upstream to its 'death domain'\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7601280/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Binds to the intracellular domain of tumour necrosis factor type 1 receptor. The binding domain of TRAP1 and TRAP2 resides outside the death domain of TNFR1. Locus 3q27.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd3","kind":"target","name":"PSMD3","aka":["proteasome 26S subunit, non-ATPase 3","26S proteasome non-ATPase regulatory subunit 3","S3","P58","Rpn3","TSTA2"],"tldr":"PSMD3 (26S proteasome non-ATPase regulatory subunit 3) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9560","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9560"},{"label":"UniProt O43242","url":"https://www.uniprot.org/uniprotkb/O43242/entry"},{"label":"NCBI Gene 5709","url":"https://www.ncbi.nlm.nih.gov/gene/5709"},{"label":"Ensembl ENSG00000108344","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108344"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9560","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9560","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43242","url":"https://www.uniprot.org/uniprotkb/O43242/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108344","url":"https://platform.opentargets.org/target/ENSG00000108344/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD3 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD3: RNA tissue enhanced (skeletal muscle 242 nTPM); high antibody staining in 20 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD3 tissue","url":"https://www.proteinatlas.org/ENSG00000108344-PSMD3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108344 associations","url":"https://platform.opentargets.org/target/ENSG00000108344/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9560","ensembl":"ENSG00000108344","uniprot":"O43242","entrez":"5709","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kominami et al, Mol. Biol. Cell, 1997, \"Yeast counterparts of subunits S5a and p58 (S3) of the human 26S proteasome are encoded by two multicopy suppressors of nin1-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9017604/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Locus 17q21.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd4","kind":"target","name":"PSMD4","aka":["proteasome 26S subunit ubiquitin receptor, non-ATPase 4","26S proteasome non-ATPase regulatory subunit 4","S5A","AF-1","Rpn10"],"tldr":"PSMD4 (26S proteasome non-ATPase regulatory subunit 4) is a gene. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Colorectal cancer, Breast cancer and 2 more.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Talazoparib and Carfilzomib. Open Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.78, genetic association 0.12, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9561","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9561"},{"label":"UniProt P55036","url":"https://www.uniprot.org/uniprotkb/P55036/entry"},{"label":"NCBI Gene 5710","url":"https://www.ncbi.nlm.nih.gov/gene/5710"},{"label":"Ensembl ENSG00000159352","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159352"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["multiple-myeloma","colorectal","breast-cancer","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD4","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9561","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9561","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55036","url":"https://www.uniprot.org/uniprotkb/P55036/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PSMD4","url":"https://civicdb.org/features/4630","note":"2 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer, Breast Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000159352","url":"https://platform.opentargets.org/target/ENSG00000159352/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: plasma cell myeloma 0.61, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD4 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD4: RNA low tissue specificity; high antibody staining in 6 normal tissues. Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Colorectal cancer, Breast cancer (all types), Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD4 tissue","url":"https://www.proteinatlas.org/ENSG00000159352-PSMD4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000159352 associations","url":"https://platform.opentargets.org/target/ENSG00000159352/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9561","ensembl":"ENSG00000159352","uniprot":"P55036","entrez":"5710","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Johansson et al, J. Biol. Chem, 1995, \"Molecular cloning and expression of a pituitary gland protein modulating intestinal fluid secretion\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7657640/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMD4 acts as an ubiquitin receptor subunit through ubiquitin-interacting motifs and selects ubiquitin-conjugates for destruction. Displays a preferred selectivity for longer polyubiquitin chains. Locus 1q21.3 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.61 with plasma cell myeloma (MONDO_0009693)","Colorectal cancer: CIViC evidence names this disease","Breast cancer: CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd6","kind":"target","name":"PSMD6","aka":["proteasome 26S subunit, non-ATPase 6","26S proteasome non-ATPase regulatory subunit 6","S10","p44S10","KIAA0107","Rpn7"],"tldr":"PSMD6 (26S proteasome non-ATPase regulatory subunit 6) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.81, genetic association 0.25, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9564","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9564"},{"label":"UniProt Q15008","url":"https://www.uniprot.org/uniprotkb/Q15008/entry"},{"label":"NCBI Gene 9861","url":"https://www.ncbi.nlm.nih.gov/gene/9861"},{"label":"Ensembl ENSG00000163636","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163636"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD6","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9564","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9564","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15008","url":"https://www.uniprot.org/uniprotkb/Q15008/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163636","url":"https://platform.opentargets.org/target/ENSG00000163636/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD6 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD6: RNA tissue enhanced (pancreas 269 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (3 of 3 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD6 tissue","url":"https://www.proteinatlas.org/ENSG00000163636-PSMD6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163636 associations","url":"https://platform.opentargets.org/target/ENSG00000163636/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9564","ensembl":"ENSG00000163636","uniprot":"Q15008","entrez":"9861","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1995, \"Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7788527/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Locus 3p14.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd7","kind":"target","name":"PSMD7","aka":["proteasome 26S subunit, non-ATPase 7","26S proteasome non-ATPase regulatory subunit 7","S12","P40","MOV34","Rpn8"],"tldr":"PSMD7 (26S proteasome non-ATPase regulatory subunit 7) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.40, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9565","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9565"},{"label":"UniProt P51665","url":"https://www.uniprot.org/uniprotkb/P51665/entry"},{"label":"NCBI Gene 5713","url":"https://www.ncbi.nlm.nih.gov/gene/5713"},{"label":"Ensembl ENSG00000103035","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103035"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD7","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9565","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9565","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51665","url":"https://www.uniprot.org/uniprotkb/P51665/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000103035","url":"https://platform.opentargets.org/target/ENSG00000103035/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD7 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD7: RNA low tissue specificity; high antibody staining in 16 normal tissues; highest cancer staining liver cancer (1 of 10 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD7 tissue","url":"https://www.proteinatlas.org/ENSG00000103035-PSMD7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000103035 associations","url":"https://platform.opentargets.org/target/ENSG00000103035/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9565","ensembl":"ENSG00000103035","uniprot":"P51665","entrez":"5713","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tsurumi et al, Biochem. Biophys. Res. Commun, 1995, \"cDNA cloning of p40, a regulatory subunit of the human 26S proteasome, and a homolog of the Mov-34 gene product\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7755639/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Locus 16q23.1 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"psmd8","kind":"target","name":"PSMD8","aka":["proteasome 26S subunit, non-ATPase 8","26S proteasome non-ATPase regulatory subunit 8","S14","Nin1p","p31","HIP6","Rpn12"],"tldr":"PSMD8 (26S proteasome non-ATPase regulatory subunit 8) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.81, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9566","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9566"},{"label":"UniProt P48556","url":"https://www.uniprot.org/uniprotkb/P48556/entry"},{"label":"NCBI Gene 5714","url":"https://www.ncbi.nlm.nih.gov/gene/5714"},{"label":"Ensembl ENSG00000099341","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000099341"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSMD8","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9566","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9566","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48556","url":"https://www.uniprot.org/uniprotkb/P48556/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000099341","url":"https://platform.opentargets.org/target/ENSG00000099341/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PSMD8 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PSMD8: RNA tissue enhanced (skeletal muscle 667 nTPM); high antibody staining in 2 normal tissues; highest cancer staining prostate cancer (2 of 9 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PSMD8 tissue","url":"https://www.proteinatlas.org/ENSG00000099341-PSMD8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000099341 associations","url":"https://platform.opentargets.org/target/ENSG00000099341/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9566","ensembl":"ENSG00000099341","uniprot":"P48556","entrez":"5714","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kominami et al, EMBO J, 1995, \"Nin1p, a regulatory subunit of the 26S proteasome, is necessary for activation of Cdc28p kinase of Saccharomyces cerevisiae\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7621825/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Locus 19q13.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"pspc1","kind":"target","name":"PSPC1","aka":["paraspeckle component 1","Paraspeckle component 1","PSP1","FLJ10955"],"tldr":"PSPC1 (Paraspeckle component 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"RNA-binding protein required for the formation of nuclear paraspeckles. Binds to poly(A), poly(G) and poly(U) RNA homopolymers. Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20320","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20320"},{"label":"UniProt Q8WXF1","url":"https://www.uniprot.org/uniprotkb/Q8WXF1/entry"},{"label":"NCBI Gene 55269","url":"https://www.ncbi.nlm.nih.gov/gene/55269"},{"label":"Ensembl ENSG00000121390","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121390"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PSPC1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:20320","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20320","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WXF1","url":"https://www.uniprot.org/uniprotkb/Q8WXF1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PSPC1","url":"https://www.intogen.org/search?gene=PSPC1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:20320","ensembl":"ENSG00000121390","uniprot":"Q8WXF1","entrez":"55269","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fox A.H. et al, Curr. Biol, 2002, \"Paraspeckles: a novel nuclear domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11790299/","biology":"RNA-binding protein required for the formation of nuclear paraspeckles. Binds to poly(A), poly(G) and poly(U) RNA homopolymers. Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. Location: Nucleus speckle; Nucleus, nucleolus; Nucleus matrix; Cytoplasm (UniProt). Locus 13q12.11 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"oncogene","prevalence":[]},{"id":"ptch1","kind":"target","name":"PTCH1 (Patched 1)","aka":["Patched 1","PTCH","NBCCS","patched 1"],"tldr":"PTCH1 is the brake on the hedgehog growth pathway. When it is lost, as in nearly all basal cell carcinomas and in Gorlin syndrome, the pathway runs unchecked; vismodegib and sonidegib put the brake back one step down, at smoothened.","summary":"PTCH1 (chromosome 9q22.32) encodes Patched 1, the receptor for the hedgehog morphogens SHH, IHH and DHH and a negative regulator of smoothened: without hedgehog it acts as a cholesterol transporter that depletes cholesterol from the outer leaflet of the plasma membrane and so keeps SMO from being activated; hedgehog binding switches the transporter off and SMO signals (UniProt Q13635). The hedgehog pathway record states that PTCH1 loss or SMO mutation drives basal cell carcinoma (Gorlin syndrome) and the SHH subgroup of medulloblastoma. In OnCo, vismodegib and sonidegib treat the disease by inhibiting SMO downstream of PTCH1 loss, and germline PTCH1 loss in Gorlin syndrome is the population for the topical SMO inhibitor patidegib.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:9585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9585"},{"label":"UniProt Q13635","url":"https://www.uniprot.org/uniprotkb/Q13635/entry"},{"label":"NCBI Gene 5727","url":"https://www.ncbi.nlm.nih.gov/gene/5727"}],"tags":["wave5-target"],"related":["vismodegib","sonidegib","patidegib","smoothened"],"cancers":["basal-cell-carcinoma","locally-advanced-bcc","medulloblastoma-shh"],"sections":[],"technologies":["hedgehog-inhibitors"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hedgehog","basal-cell-carcinoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"PTCH1","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:9585","ensembl":"ENSG00000185920","uniprot":"Q13635","entrez":"5727","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Johnson R.L. et al, Science, 1996, \"Human homolog of patched, a candidate gene for the basal cell nevus syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8658145/","biology":"A tumour suppressor rather than a druggable target: PTCH1 inactivation is what makes a tumour hedgehog-dependent and so eligible for SMO antagonists. The hedgehog pathway record notes resistance through SMO mutations or SUFU and GLI2 alterations downstream.","whereFound":["Basal cell carcinoma (PTCH1 loss in nearly all cases)","SHH-subgroup medulloblastoma","Gorlin (basal cell nevus) syndrome (germline PTCH1 loss)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"pten","kind":"target","name":"PTEN","aka":["phosphatase and tensin homolog","MMAC1","TEP1"],"tldr":"PTEN is the brake on the PI3K growth pathway; when a tumour loses it the pathway runs unchecked, which is why PTEN loss now selects patients for the AKT inhibitor capivasertib.","summary":"PTEN is a lipid phosphatase that converts PIP3 back to PIP2, opposing PI3K and switching off AKT signalling. Loss through deletion, mutation or promoter silencing is common in prostate, endometrial, breast and brain tumours and in Cowden syndrome when inherited. Capivasertib's labels name PTEN alterations (with PIK3CA and AKT1) in breast cancer and PTEN deficiency by immunohistochemistry in prostate cancer, so the readout pages under this target carry both the sequencing and the IHC rules.","asOf":"2026-09-23","wikipedia":"https://en.wikipedia.org/wiki/PTEN_(gene)","links":[{"label":"HGNC HGNC:9588","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9588"},{"label":"UniProt P60484","url":"https://www.uniprot.org/uniprotkb/P60484/entry"}],"tags":["biomarker-parent","tumor-suppressor"],"related":["pten-alteration"],"cancers":["prostate-mhspc","breast-hr-positive","endometrial","glioblastoma","tnbc","colorectal","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["capivasertib"],"companies":[],"institutions":[],"pathways":[],"terms":["pten-loss"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-breast-molecular-portraits-nature-2012","paper-barroso-sousa-tmb-pten-ici-mtnbc-ccr-2020","paper-loree-tumour-location-continuum-colorectal-ccr-2018","paper-ferraldeschi-pten-protein-loss-abiraterone-eur-urol-2015","paper-ipatential150-ipatasertib-abiraterone-pten-lancet-2021"],"journals":[],"dependsOn":[],"notes":["Triple-negative breast cancer: PTEN mutation or loss in up to 35% of basal-like tumours (Cancer Genome Atlas 2012) and deep deletion in 21% of 119 TCGA triple-negative samples (cBioPortal); PTEN alterations went with a 6% response rate to checkpoint inhibitors against 48% (Barroso-Sousa 2020) and defined the PTEN-low co-primary population of LOTUS (Kim 2017).","Colorectal cancer: inactivating mutation in 6 to 8% with deep deletion on top (cBioPortal); prevalence differs by precise tumour subsite (Loree 2018). No colorectal approval depends on PTEN status."],"symbol":"PTEN","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (PTEN alteration (sequencing) and PTEN loss (IHC)) absent from normal cells. HPA PTEN: RNA low tissue specificity; high antibody staining in 14 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Breast cancer (all types), Endometrial cancer, Brain and spinal cord tumours (all types)); Open Targets associates it with 34 specific cancer types at or above 0.5 (PTEN hamartoma tumor syndrome, glioma susceptibility 2, Bannayan-Riley-Ruvalcaba syndrome, glioma, endometrial cancer, melanoma and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"PTEN alteration (sequencing) and PTEN loss (IHC) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=d698c106-2322-401e-b738-cbd83c843ecf","note":"PTEN alteration (with PIK3CA and AKT1 as the qualifying set)"},{"label":"Human Protein Atlas PTEN tissue","url":"https://www.proteinatlas.org/ENSG00000171862-PTEN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171862 associations","url":"https://platform.opentargets.org/target/ENSG00000171862/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9588","ensembl":"ENSG00000171862","uniprot":"P60484","entrez":"5728","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Li D.M. et al, Cancer Res, 1997, \"TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9187108/","biology":"PTEN loss raises PIP3 and constitutively activates AKT and mTOR; it also has nuclear roles in genome stability, so PTEN-null tumours accumulate further damage.","whereFound":["Prostate cancer (loss in about 40 percent of metastatic disease)","Endometrial cancer","Glioblastoma","Breast cancer (PI3K pathway alterations)","Triple-negative breast cancer: mutation or deletion (loss) 12-35%","Colorectal cancer: inactivating mutation or deep deletion 6-8%","Prostate cancer: deep deletion, and inactivating mutation on top of it 12-41% depending on disease state"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"tnbc","pct":"12-35","measure":"Mutation or deletion (loss)","source":"https://doi.org/10.1038/nature11412","note":"PTEN mutation or loss in 35% of basal-like tumours, with INPP4B loss in 30% (Cancer Genome Atlas 2012); cBioPortal: deep deletion in 25 of 119, 21.0%, and mutation in 8 of 123, 6.5%, in brca_tcga_pan_can_atlas_2018; mutation in 18 of 299, 6.0%, and deep deletion in 16 of 320, 5.0%, in brca_metabric; mutation in 15 of 176, 8.5%, and deep deletion in 10 of 176, 5.7%, in breast_msk_2018. PTEN alterations (mutation or one- or two-copy deletion) in 29% of 62 metastatic TNBC patients treated with checkpoint inhibitors, where they went with a 6% versus 48% response rate (Barroso-Sousa 2020, Clin Cancer Res)."},{"cancerId":"colorectal","pct":"6-8","measure":"Inactivating mutation or deep deletion","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: mutation in 446 of 7,237, 6.2%, plus deep deletion in 70, in crc_msk_2026; 68 of 1,134, 6.0%, plus 19 deletions, in crc_msk_2017; 34 of 534, 6.4%, plus 17 deletions of 592, in coadread_tcga_pan_can_atlas_2018; 51 of 619, 8.2%, in coadread_dfci_2016. PTEN mutation prevalence differs by side and by precise location (Loree 2018)."},{"cancerId":"prostate","pct":"12-41","measure":"Deep deletion, and inactivating mutation on top of it","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"cBioPortal deep deletion: 85 of 489, 17.4%, in prad_tcga_pan_can_atlas_2018; 50 of 333, 15.0%, in prad_tcga_pub; 124 of 1,013, 12.2%, in prad_p1000; 61 of 424, 14.4%, in prad_mcspc_mskcc_2020; 262 of 2,260, 11.6%, in prostate_msk_2024; 209 of 1,465, 14.3%, in prad_cdk12_mskcc_2020; 114 of 444, 25.7%, in prad_su2c_2019; 41 of 150, 27.3%, in prad_su2c_2015; 55 of 149, 36.9%, in prad_fhcrc; 25 of 61, 41.0%, in prad_mich. Inactivating mutation adds 3 to 11% on top (182 of 2,260, 8.1%, in prostate_msk_2024; 46 of 424, 10.8%, in prad_mcspc_mskcc_2020)."}]},{"id":"ptgs1","kind":"target","name":"PTGS1","aka":["prostaglandin-endoperoxide synthase 1","Prostaglandin G/H synthase 1","COX1","PGHS-1","PTGHS"],"tldr":"PTGS1 (Prostaglandin G/H synthase 1) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Dual cyclooxygenase and peroxidase that plays an important role in the biosynthesis pathway of prostanoids, a class of C20 oxylipins mainly derived from arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate, AA, C20:4(n-6)), with a particular role in the inflammatory response. The cyclooxygenase activity oxygenates AA to the hydroperoxy endoperoxide prostaglandin G2 (PGG2), and the peroxidase activity reduces PGG2 to the hydroxy endoperoxide prostaglandin H2 (PGH2), the precursor of all 2-series prostaglandins and thromboxanes. This complex transformation is initiated by abstraction of hydrogen at carbon 13 (with S-stereochemistry), followed by insertion of molecular O2 to form the endoperoxide bridge between carbon 9 and 11 that defines prostaglandins.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.93, animal model 0.64, genetic association 0.37, clinical 0.88).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9604","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9604"},{"label":"UniProt P23219","url":"https://www.uniprot.org/uniprotkb/P23219/entry"},{"label":"NCBI Gene 5742","url":"https://www.ncbi.nlm.nih.gov/gene/5742"},{"label":"Ensembl ENSG00000095303","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000095303"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.88. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTGS1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9604","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9604","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23219","url":"https://www.uniprot.org/uniprotkb/P23219/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000095303","url":"https://platform.opentargets.org/target/ENSG00000095303/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PTGS1: RNA tissue enhanced (intestine 102 nTPM, skin 1 144 nTPM, urinary bladder 228 nTPM); blood lineage group enriched (dendritic cells 20 nTPM, granulocytes 29 nTPM, monocytes 13 nTPM); high antibody staining in 10 normal tissues; highest cancer staining ovarian cancer (7 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PTGS1 tissue","url":"https://www.proteinatlas.org/ENSG00000095303-PTGS1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000095303 associations","url":"https://platform.opentargets.org/target/ENSG00000095303/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9604","ensembl":"ENSG00000095303","uniprot":"P23219","entrez":"5742","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yokoyama et al, Biochem. Biophys. Res. Commun, 1989, \"Cloning of human gene encoding prostaglandin endoperoxide synthase and primary structure of the enzyme\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2512924/","biology":"Dual cyclooxygenase and peroxidase that plays an important role in the biosynthesis pathway of prostanoids, a class of C20 oxylipins mainly derived from arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate, AA, C20:4(n-6)), with a particular role in the inflammatory response. The cyclooxygenase activity oxygenates AA to the hydroperoxy endoperoxide prostaglandin G2 (PGG2), and the peroxidase activity reduces PGG2 to the hydroxy endoperoxide prostaglandin H2 (PGH2), the precursor of all 2-series prostaglandins and thromboxanes. This complex transformation is initiated by abstraction of hydrogen at carbon 13 (with S-stereochemistry), followed by insertion of molecular O2 to form the endoperoxide bridge between carbon 9 and 11 that defines prostaglandins. The insertion of a second molecule of O2 (bis-oxygenase activity) yields a hydroperoxy group in PGG2 that is then reduced to PGH2 by two electrons. Involved in the constitutive production of prostanoids in particular in the stomach and platelets. In gastric epithelial cells, it is a key step in the generation of prostaglandins, such as prostaglandin E2 (PGE2), which plays an important role in cytoprotection. Location: Microsome membrane; Endoplasmic reticulum membrane (UniProt). Locus 9q33.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"ptk6","kind":"target","name":"PTK6 (BRK)","aka":[],"tldr":"PTK6, also called breast tumour kinase, is over-expressed in most breast cancers and is one of the off-targets of dasatinib; drugs made specifically against it are still experimental.","summary":"Protein tyrosine kinase 6, or breast tumour kinase (BRK), is a distant relative of the SRC family that is normally found in differentiating gut and skin epithelium but is over-expressed in the majority of breast cancers and in some colon, prostate and ovarian tumours, where it promotes proliferation, survival and migration through STAT3 and AKT. It appears in ChEMBL as a target because approved multi-kinase inhibitors, dasatinib among them, inhibit it; selective PTK6 inhibitors and degraders are in preclinical development, including for HER2-positive and triple-negative breast cancer.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/PTK6","links":[{"label":"UniProt Q13882: PTK6","url":"https://www.uniprot.org/uniprotkb/Q13882/entry"},{"label":"HGNC:9617 PTK6","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9617"},{"label":"ChEMBL target CHEMBL4601","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL4601"}],"tags":["chembl-gap"],"related":["her2","egfr","src"],"cancers":["breast-her2-positive","tnbc","colorectal","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["dasatinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"PTK6","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal esophagus, skin 1, vagina, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA PTK6: RNA tissue enhanced (esophagus 104 nTPM, skin 1 51 nTPM, vagina 41 nTPM); high antibody staining in 3 normal tissues; highest cancer staining stomach cancer (1 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Colorectal cancer, Prostate cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (medullary thyroid gland carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PTK6 tissue","url":"https://www.proteinatlas.org/ENSG00000101213-PTK6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PTK6 pathology","url":"https://www.proteinatlas.org/ENSG00000101213-PTK6/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000101213 associations","url":"https://platform.opentargets.org/target/ENSG00000101213/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9617","ensembl":"ENSG00000101213","uniprot":"Q13882","entrez":"5753","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mitchell P.J. et al, Oncogene, 1994, \"Cloning and characterisation of cDNAs encoding a novel non-receptor tyrosine kinase, brk, expressed in human breast tumours\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8036022/","biology":"An intracellular non-receptor tyrosine kinase lacking a membrane anchor; in tumours it phosphorylates STAT3, paxillin and Sam68 and cooperates with HER2 and EGFR signalling.","whereFound":["Differentiated intestinal and skin epithelium","Most breast cancers; some colon, prostate and ovarian cancers"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (PTK6, over-expressed in many breast cancers without a selecting mutation); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"ptma","kind":"target","name":"PTMA","aka":["prothymosin alpha","Prothymosin alpha"],"tldr":"PTMA (Prothymosin alpha) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Testicular germ cell tumours.","summary":"Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Mixed Germ Cell Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9623","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9623"},{"label":"UniProt P06454","url":"https://www.uniprot.org/uniprotkb/P06454/entry"},{"label":"NCBI Gene 5757","url":"https://www.ncbi.nlm.nih.gov/gene/5757"},{"label":"Ensembl ENSG00000187514","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187514"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["testicular"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTMA","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9623","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9623","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P06454","url":"https://www.uniprot.org/uniprotkb/P06454/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PTMA","url":"https://www.intogen.org/search?gene=PTMA","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9623","ensembl":"ENSG00000187514","uniprot":"P06454","entrez":"5757","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Eschenfeldt W.H. et al, Proc. Natl. Acad. Sci. U.S.A, 1986, \"The human prothymosin alpha gene is polymorphic and induced upon growth stimulation: evidence using a cloned cDNA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3467312/","biology":"Prothymosin alpha may mediate immune function by conferring resistance to certain opportunistic infections. Location: Nucleus (UniProt). Locus 2q37.1 (HGNC).","whereFound":["Testicular germ cell tumours: IntOGen driver in 1 cohort (MGCT)"],"targetClass":"oncogene","prevalence":[]},{"id":"ptp4a3","kind":"target","name":"PTP4A3","aka":["protein tyrosine phosphatase 4A3","Protein tyrosine phosphatase type IVA 3","PRL-3","PRL-R","PRL3"],"tldr":"PTP4A3 (Protein tyrosine phosphatase type IVA 3) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. May be involved in the progression of cardiac hypertrophy by inhibiting intracellular calcium mobilisation in response to angiotensin II.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cetuximab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9636","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9636"},{"label":"UniProt O75365","url":"https://www.uniprot.org/uniprotkb/O75365/entry"},{"label":"NCBI Gene 11156","url":"https://www.ncbi.nlm.nih.gov/gene/11156"},{"label":"Ensembl ENSG00000184489","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184489"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct04452955","nct07290088","nct07541001"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTP4A3","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9636","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9636","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75365","url":"https://www.uniprot.org/uniprotkb/O75365/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTP4A3","url":"https://civicdb.org/features/8908","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PTP4A3: RNA tissue enhanced (heart muscle 517 nTPM, skeletal muscle 565 nTPM); blood lineage group enriched (granulocytes 55 nTPM, monocytes 54 nTPM); no normal tissue stained high; highest cancer staining liver cancer (1 of 9 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PTP4A3 tissue","url":"https://www.proteinatlas.org/ENSG00000184489-PTP4A3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184489 associations","url":"https://platform.opentargets.org/target/ENSG00000184489/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9636","ensembl":"ENSG00000184489","uniprot":"O75365","entrez":"11156","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dayton M.A. et al, Recept. Signal Transduct, 1997, \"Multiple phosphotyrosine phosphatase mRNAs are expressed in the human lung fibroblast cell line WI-38\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9633825/","biology":"Protein tyrosine phosphatase which stimulates progression from G1 into S phase during mitosis. Enhances cell proliferation, cell motility and invasive activity, and promotes cancer metastasis. May be involved in the progression of cardiac hypertrophy by inhibiting intracellular calcium mobilisation in response to angiotensin II. Location: Cell membrane; Early endosome (UniProt). Locus 8q24.3 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"ptpn12","kind":"target","name":"PTPN12","aka":["protein tyrosine phosphatase non-receptor type 12","Tyrosine-protein phosphatase non-receptor type 12","PTPG1","PTP-PEST"],"tldr":"PTPN12 (Tyrosine-protein phosphatase non-receptor type 12) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Triple-negative breast cancer.","summary":"Dephosphorylates a range of proteins, and thereby regulates cellular signalling cascades. Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signalling via ERBB2 and PTK2B/PYK2. Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248'.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Crizotinib and Sunitinib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9645","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9645"},{"label":"UniProt Q05209","url":"https://www.uniprot.org/uniprotkb/Q05209/entry"},{"label":"NCBI Gene 5782","url":"https://www.ncbi.nlm.nih.gov/gene/5782"},{"label":"Ensembl ENSG00000127947","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127947"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["tnbc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPN12","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9645","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9645","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q05209","url":"https://www.uniprot.org/uniprotkb/Q05209/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPN12","url":"https://civicdb.org/features/4686","note":"1 evidence items, 0 assertions, 1 variants; diseases: Triple-negative Breast Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PTPN12: RNA low tissue specificity; high antibody staining in 20 normal tissues; highest cancer staining testis cancer (10 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PTPN12 tissue","url":"https://www.proteinatlas.org/ENSG00000127947-PTPN12/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000127947 associations","url":"https://platform.opentargets.org/target/ENSG00000127947/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9645","ensembl":"ENSG00000127947","uniprot":"Q05209","entrez":"5782","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takekawa et al, Biochem. Biophys. Res. Commun, 1992, \"Cloning and characterization of a human cDNA encoding a novel putative cytoplasmic protein-tyrosine-phosphatase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1472029/","biology":"Dephosphorylates a range of proteins, and thereby regulates cellular signalling cascades. Dephosphorylates cellular tyrosine kinases, such as ERBB2 and PTK2B/PYK2, and thereby regulates signalling via ERBB2 and PTK2B/PYK2. Selectively dephosphorylates ERBB2 phosphorylated at 'Tyr-1112', 'Tyr-1196', and/or 'Tyr-1248'. Location: Cytoplasm; Cell junction, focal adhesion; Cell projection, podosome (UniProt). Locus 7q11.23 (HGNC).","whereFound":["Triple-negative breast cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"ptpn13","kind":"target","name":"PTPN13","aka":["protein tyrosine phosphatase non-receptor type 13","Tyrosine-protein phosphatase non-receptor type 13","PTP1E","PTP-BAS","PTPL1","PTP-BL"],"tldr":"PTPN13 (Tyrosine-protein phosphatase non-receptor type 13) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Pancreatic ductal adenocarcinoma, Endometrial cancer and 3 more.","summary":"Tyrosine phosphatase which negatively regulates FAS-induced apoptosis and NGFR-mediated pro-apoptotic signalling. May regulate phosphoinositide 3-kinase (PI3K) signalling through dephosphorylation of PIK3R2.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.86). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Bladder Urothelial Carcinoma, Pancreas, Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9646","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9646"},{"label":"UniProt Q12923","url":"https://www.uniprot.org/uniprotkb/Q12923/entry"},{"label":"NCBI Gene 5783","url":"https://www.ncbi.nlm.nih.gov/gene/5783"},{"label":"Ensembl ENSG00000163629","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163629"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","pancreatic","endometrial","breast-cancer","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPN13","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9646","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9646","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12923","url":"https://www.uniprot.org/uniprotkb/Q12923/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163629","url":"https://platform.opentargets.org/target/ENSG00000163629/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: melanoma 0.52, skin cancer 0.54, breast cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen PTPN13","url":"https://www.intogen.org/search?gene=PTPN13","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9646","ensembl":"ENSG00000163629","uniprot":"Q12923","entrez":"5783","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Honda et al, Leukemia, 1993, \"Identification of novel protein-tyrosine phosphatases in a human leukemia cell line, F-36P\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8483328/","biology":"Tyrosine phosphatase which negatively regulates FAS-induced apoptosis and NGFR-mediated pro-apoptotic signalling. May regulate phosphoinositide 3-kinase (PI3K) signalling through dephosphorylation of PIK3R2. Location: Cytoplasm, cytoskeleton; Nucleus; Cell projection, lamellipodium (UniProt). Locus 4q21.3 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PANCREAS)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"enzyme","prevalence":[]},{"id":"ptpn14","kind":"target","name":"PTPN14","aka":["protein tyrosine phosphatase non-receptor type 14","Tyrosine-protein phosphatase non-receptor type 14","PTPD2"],"tldr":"PTPN14 (Tyrosine-protein phosphatase non-receptor type 14) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Basal cell carcinoma.","summary":"Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.94, animal model 0.34, genetic association 0.60, somatic mutation 0.61). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Basal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9647","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9647"},{"label":"UniProt Q15678","url":"https://www.uniprot.org/uniprotkb/Q15678/entry"},{"label":"NCBI Gene 5784","url":"https://www.ncbi.nlm.nih.gov/gene/5784"},{"label":"Ensembl ENSG00000152104","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000152104"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPN14","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9647","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9647","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15678","url":"https://www.uniprot.org/uniprotkb/Q15678/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000152104","url":"https://platform.opentargets.org/target/ENSG00000152104/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"},{"label":"IntOGen PTPN14","url":"https://www.intogen.org/search?gene=PTPN14","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9647","ensembl":"ENSG00000152104","uniprot":"Q15678","entrez":"5784","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Smith A.L. et al, Biochem. Biophys. Res. Commun, 1995, \"Pez: a novel human cDNA encoding protein tyrosine phosphatase- and ezrin-like domains\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7733990/","biology":"Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumour suppressor. Location: Cytoplasm; Cytoplasm, cytoskeleton; Nucleus (UniProt). Locus 1q32.3-q41 (HGNC).","whereFound":["Basal cell carcinoma: IntOGen driver in 1 cohort (BCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ptpn22","kind":"target","name":"PTPN22","aka":["protein tyrosine phosphatase non-receptor type 22","Tyrosine-protein phosphatase non-receptor type 22","Lyp","Lyp1","Lyp2","PTPN8"],"tldr":"PTPN22 (Tyrosine-protein phosphatase non-receptor type 22) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Acts as a negative regulator of T-cell receptor (TCR) signalling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signalling molecules. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.74, animal model 0.50, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9652","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9652"},{"label":"UniProt Q9Y2R2","url":"https://www.uniprot.org/uniprotkb/Q9Y2R2/entry"},{"label":"NCBI Gene 26191","url":"https://www.ncbi.nlm.nih.gov/gene/26191"},{"label":"Ensembl ENSG00000134242","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134242"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPN22","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9652","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9652","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y2R2","url":"https://www.uniprot.org/uniprotkb/Q9Y2R2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000134242","url":"https://platform.opentargets.org/target/ENSG00000134242/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9652","ensembl":"ENSG00000134242","uniprot":"Q9Y2R2","entrez":"26191","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Liu et al, 1998, \"Human protein tyrosine phosphatase (70zpep) homolog\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9Y2R2/entry","biology":"Acts as a negative regulator of T-cell receptor (TCR) signalling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signalling molecules. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue. Dephosphorylates ZAP70 at its activating 'Tyr-493' residue. Dephosphorylates the immune system activator SKAP2. Positively regulates toll-like receptor (TLR)-induced type 1 interferon production. Location: Cytoplasm (UniProt). Locus 1p13.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"ptpn3","kind":"target","name":"PTPN3","aka":["protein tyrosine phosphatase non-receptor type 3","Tyrosine-protein phosphatase non-receptor type 3","PTPH1"],"tldr":"PTPN3 (Tyrosine-protein phosphatase non-receptor type 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma.","summary":"May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9655","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9655"},{"label":"UniProt P26045","url":"https://www.uniprot.org/uniprotkb/P26045/entry"},{"label":"NCBI Gene 5774","url":"https://www.ncbi.nlm.nih.gov/gene/5774"},{"label":"Ensembl ENSG00000070159","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000070159"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPN3","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9655","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9655","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P26045","url":"https://www.uniprot.org/uniprotkb/P26045/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PTPN3","url":"https://www.intogen.org/search?gene=PTPN3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9655","ensembl":"ENSG00000070159","uniprot":"P26045","entrez":"5774","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yang et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Isolation of a cDNA clone encoding a human protein-tyrosine phosphatase with homology to the cytoskeletal-associated proteins band 4.1, ezrin, and talin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1648725/","biology":"May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity. Location: Cell membrane; Cytoplasm, cytoskeleton (UniProt). Locus 9q31.3 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ptpn6","kind":"target","name":"PTPN6","aka":["protein tyrosine phosphatase non-receptor type 6","Tyrosine-protein phosphatase non-receptor type 6","PTP-1C","SHP-1","SHP1"],"tldr":"PTPN6 (Tyrosine-protein phosphatase non-receptor type 6) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma, Diffuse large B-cell lymphoma and Melanoma.","summary":"Tyrosine phosphatase enzyme that plays important roles in controlling immune signalling pathways and fundamental physiological processes such as haematopoiesis. Dephosphorylates and negatively regulate several receptor tyrosine kinases (RTKs) such as EGFR, PDGFR and FGFR, thereby modulating their signalling activities. When recruited to immunoreceptor tyrosine-based inhibitory motif (ITIM)-containing receptors such as immunoglobulin-like transcript 2/LILRB1, programmed cell death protein 1/PDCD1, CD3D, CD22, CLEC12A and other receptors involved in immune regulation, initiates their dephosphorylation and subsequently inhibits downstream signalling events.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9658","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9658"},{"label":"UniProt P29350","url":"https://www.uniprot.org/uniprotkb/P29350/entry"},{"label":"NCBI Gene 5777","url":"https://www.ncbi.nlm.nih.gov/gene/5777"},{"label":"Ensembl ENSG00000111679","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111679"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["hcc","dlbcl","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cd47-sirpa"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPN6","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9658","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9658","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29350","url":"https://www.uniprot.org/uniprotkb/P29350/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPN6","url":"https://civicdb.org/features/4682","note":"1 evidence items, 0 assertions, 1 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen PTPN6","url":"https://www.intogen.org/search?gene=PTPN6","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PTPN6: RNA tissue enhanced (bone marrow 125 nTPM, lymphoid tissue 144 nTPM); high antibody staining in 6 normal tissues; highest cancer staining lymphoma (12 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma, Lymphoma, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P29350","url":"https://www.uniprot.org/uniprotkb/P29350/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPN6","url":"https://civicdb.org/features/4682","note":"1 evidence items, 0 assertions, 1 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen PTPN6","url":"https://www.intogen.org/search?gene=PTPN6","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PTPN6 tissue","url":"https://www.proteinatlas.org/ENSG00000111679-PTPN6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000111679 associations","url":"https://platform.opentargets.org/target/ENSG00000111679/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9658","ensembl":"ENSG00000111679","uniprot":"P29350","entrez":"5777","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shen S.H. et al, Nature, 1991, \"A protein-tyrosine phosphatase with sequence similarity to the SH2 domain of the protein-tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1652101/","biology":"Tyrosine phosphatase enzyme that plays important roles in controlling immune signalling pathways and fundamental physiological processes such as haematopoiesis. Dephosphorylates and negatively regulate several receptor tyrosine kinases (RTKs) such as EGFR, PDGFR and FGFR, thereby modulating their signalling activities. When recruited to immunoreceptor tyrosine-based inhibitory motif (ITIM)-containing receptors such as immunoglobulin-like transcript 2/LILRB1, programmed cell death protein 1/PDCD1, CD3D, CD22, CLEC12A and other receptors involved in immune regulation, initiates their dephosphorylation and subsequently inhibits downstream signalling events. Modulates the signalling of several cytokine receptors including IL-4 receptor. Additionally, targets multiple cytoplasmic signalling molecules including STING1, LCK or STAT1 among others involved in diverse cellular processes including modulation of T-cell activation or cGAS-STING signalling. Within the nucleus, negatively regulates the activity of some transcription factors such as NFAT5 via direct dephosphorylation. Location: Cytoplasm; Nucleus (UniProt). Locus 12p13.31 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease","Diffuse large B-cell lymphoma: IntOGen driver in 2 cohorts (DLBCLNOS)","Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"enzyme","prevalence":[]},{"id":"ptprb","kind":"target","name":"PTPRB","aka":["protein tyrosine phosphatase receptor type B","Receptor-type tyrosine-protein phosphatase beta"],"tldr":"PTPRB (Receptor-type tyrosine-protein phosphatase beta) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer, Mesothelioma, Skin cancer and 5 more.","summary":"Plays an important role in blood vessel remodeling and angiogenesis. Not necessary for the initial formation of blood vessels, but is essential for their maintenance and remodeling. Can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin and KDR/VEGFR-2.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 3 variants, naming Sunitinib and Vatalanib. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.80, genetic association 0.03, somatic mutation 0.92). IntOGen calls it a driver in 6 cohorts (1 activating, 5 loss-of-function), covering Angiosarcoma, Melanoma, Ovarian Epithelial Tumour, Pleural Mesothelioma, Thymoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9665","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9665"},{"label":"UniProt P23467","url":"https://www.uniprot.org/uniprotkb/P23467/entry"},{"label":"NCBI Gene 5787","url":"https://www.ncbi.nlm.nih.gov/gene/5787"},{"label":"Ensembl ENSG00000127329","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127329"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["ovarian","mesothelioma","skin-cancer","lung-cancer","sarcoma","breast-cancer","angiosarcoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPRB","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9665","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9665","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23467","url":"https://www.uniprot.org/uniprotkb/P23467/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPRB","url":"https://civicdb.org/features/4690","note":"4 evidence items, 0 assertions, 3 variants; diseases: Angiosarcoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000127329","url":"https://platform.opentargets.org/target/ENSG00000127329/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: melanoma 0.59, sarcoma 0.52, skin cancer 0.57, breast cancer 0.52, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen PTPRB","url":"https://www.intogen.org/search?gene=PTPRB","note":"driver in 6 cohorts (Act 1, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PTPRB: RNA low tissue specificity; no normal tissue stained high; highest cancer staining prostate cancer (11 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Mesothelioma, Skin cancer (all types), Lung cancer (all types), Sarcomas (soft tissue, bone, GIST), Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P23467","url":"https://www.uniprot.org/uniprotkb/P23467/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPRB","url":"https://civicdb.org/features/4690","note":"4 evidence items, 0 assertions, 3 variants; diseases: Angiosarcoma (GraphQL API, CC0)"},{"label":"IntOGen PTPRB","url":"https://www.intogen.org/search?gene=PTPRB","note":"driver in 6 cohorts (Act 1, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PTPRB tissue","url":"https://www.proteinatlas.org/ENSG00000127329-PTPRB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000127329 associations","url":"https://platform.opentargets.org/target/ENSG00000127329/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9665","ensembl":"ENSG00000127329","uniprot":"P23467","entrez":"5787","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Krueger N.X. et al, EMBO J, 1990, \"Structural diversity and evolution of human receptor-like protein tyrosine phosphatases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2170109/","biology":"Plays an important role in blood vessel remodeling and angiogenesis. Not necessary for the initial formation of blood vessels, but is essential for their maintenance and remodeling. Can induce dephosphorylation of TEK/TIE2, CDH5/VE-cadherin and KDR/VEGFR-2. Regulates angiopoietin-TIE2 signalling in endothelial cells. Acts as a negative regulator of TIE2, and controls TIE2 driven endothelial cell proliferation, which in turn affects blood vessel remodeling during embryonic development and determines blood vessel size during perinatal growth. Essential for the maintenance of endothelial cell contact integrity and for the adhesive function of VE-cadherin in endothelial cells and this requires the presence of plakoglobin. Location: Membrane (UniProt). Locus 12q15 (HGNC).","whereFound":["Ovarian cancer: IntOGen driver in 2 cohorts (OVT)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Sarcomas: Open Targets association 0.52 with sarcoma (MONDO_0005089)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"ptprc","kind":"target","name":"PTPRC","aka":["protein tyrosine phosphatase receptor type C","Receptor-type tyrosine-protein phosphatase C","T200","GP180","LY5","B220","CD45R","CD45"],"tldr":"PTPRC (Receptor-type tyrosine-protein phosphatase C) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Anal cancer, Hepatocellular carcinoma, Skin cancer and 5 more.","summary":"Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.99, animal model 0.46, genetic association 0.18, somatic mutation 0.85). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Anal Squamous Cell Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Hepatocellular Carcinoma, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9666","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9666"},{"label":"UniProt P08575","url":"https://www.uniprot.org/uniprotkb/P08575/entry"},{"label":"NCBI Gene 5788","url":"https://www.ncbi.nlm.nih.gov/gene/5788"},{"label":"Ensembl ENSG00000081237","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000081237"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["anal","hcc","skin-cancer","colorectal","lung-cancer","breast-cancer","gastric","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPRC","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9666","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9666","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P08575","url":"https://www.uniprot.org/uniprotkb/P08575/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000081237","url":"https://platform.opentargets.org/target/ENSG00000081237/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.55, gastric cancer 0.52, melanoma 0.55, skin cancer 0.56, breast cancer 0.54, lung cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen PTPRC","url":"https://www.intogen.org/search?gene=PTPRC","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9666","ensembl":"ENSG00000081237","uniprot":"P08575","entrez":"5788","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Streuli et al, J. Exp. Med, 1987, \"Differential usage of three exons generates at least five different mRNAs encoding human leukocyte common antigens\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2824653/","biology":"Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity. Interacts with CLEC10A at antigen presenting cell-T cell contact; CLEC10A on immature dendritic cells recognises Tn antigen-carrying PTPRC/CD45 receptor on effector T cells and modulates T cell activation threshold to limit autoreactivity. Location: Cell membrane; Membrane raft; Synapse (UniProt). Locus 1q31.3-q32.1 (HGNC).","whereFound":["Anal cancer: IntOGen driver in 1 cohort (ANSC)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.55 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"ptprd","kind":"target","name":"PTPRD","aka":["protein tyrosine phosphatase receptor type D","Receptor-type tyrosine-protein phosphatase delta"],"tldr":"PTPRD (Receptor-type tyrosine-protein phosphatase delta) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Oesophageal cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Can bidirectionally induce pre- and post-synaptic differentiation of neurons by mediating interaction with IL1RAP and IL1RAPL1 trans-synaptically. Involved in pre-synaptic differentiation through interaction with SLITRK2.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 5 variants, naming Temsirolimus, IGF1R Monoclonal Antibody, JSI-124 and Teprotumumab and others. IntOGen calls it a driver in 12 cohorts (8 activating, 4 loss-of-function), covering Invasive Breast Carcinoma, Oesophagogastric Adenocarcinoma, Oesophageal Adenocarcinoma, Oesophageal Squamous Cell Carcinoma, Lymphoid Neoplasm, Melanoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9668","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9668"},{"label":"UniProt P23468","url":"https://www.uniprot.org/uniprotkb/P23468/entry"},{"label":"NCBI Gene 5789","url":"https://www.ncbi.nlm.nih.gov/gene/5789"},{"label":"Ensembl ENSG00000153707","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153707"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["breast-cancer","esophageal","non-hodgkin-lymphoma","gastric","ovarian","pancreatic","small-bowel","ewing-sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 5 therapies; IntOGen calls it an activating (Act) driver in 8 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Head And Neck Carcinoma; Ewing Sarcoma Of Bone."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPRD","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9668","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9668","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23468","url":"https://www.uniprot.org/uniprotkb/P23468/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPRD","url":"https://civicdb.org/features/4692","note":"4 evidence items, 0 assertions, 5 variants; diseases: Ewing Sarcoma, Head And Neck Carcinoma, Ewing Sarcoma Of Bone (GraphQL API, CC0)"},{"label":"IntOGen PTPRD","url":"https://www.intogen.org/search?gene=PTPRD","note":"driver in 12 cohorts (Act 8, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PTPRD: RNA tissue enhanced (brain 39 nTPM, parathyroid gland 17 nTPM); no normal tissue stained high; highest cancer staining lymphoma (1 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Oesophageal cancer, Lymphoma, Gastric & gastro-oesophageal junction cancer, Ovarian cancer, Pancreatic ductal adenocarcinoma, Small intestine cancer (small bowel adenocarcinoma) and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P23468","url":"https://www.uniprot.org/uniprotkb/P23468/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPRD","url":"https://civicdb.org/features/4692","note":"4 evidence items, 0 assertions, 5 variants; diseases: Ewing Sarcoma, Head And Neck Carcinoma, Ewing Sarcoma Of Bone (GraphQL API, CC0)"},{"label":"IntOGen PTPRD","url":"https://www.intogen.org/search?gene=PTPRD","note":"driver in 12 cohorts (Act 8, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PTPRD tissue","url":"https://www.proteinatlas.org/ENSG00000153707-PTPRD/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000153707 associations","url":"https://platform.opentargets.org/target/ENSG00000153707/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9668","ensembl":"ENSG00000153707","uniprot":"P23468","entrez":"5789","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Krueger N.X. et al, EMBO J, 1990, \"Structural diversity and evolution of human receptor-like protein tyrosine phosphatases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2170109/","biology":"Can bidirectionally induce pre- and post-synaptic differentiation of neurons by mediating interaction with IL1RAP and IL1RAPL1 trans-synaptically. Involved in pre-synaptic differentiation through interaction with SLITRK2. Location: Membrane (UniProt). Locus 9p24.1-p23 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 2 cohorts (BRCA)","Oesophageal cancer: IntOGen driver in 2 cohorts (ESCA, ESCC)","Non-Hodgkin lymphoma: IntOGen driver in 2 cohorts (LNM, NHL)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (EGC)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"enzyme","prevalence":[]},{"id":"ptprf","kind":"target","name":"PTPRF","aka":["protein tyrosine phosphatase receptor type F","Receptor-type tyrosine-protein phosphatase F"],"tldr":"PTPRF (Receptor-type tyrosine-protein phosphatase F) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Erlotinib Hydrochloride.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9670","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9670"},{"label":"UniProt P10586","url":"https://www.uniprot.org/uniprotkb/P10586/entry"},{"label":"NCBI Gene 5792","url":"https://www.ncbi.nlm.nih.gov/gene/5792"},{"label":"Ensembl ENSG00000142949","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142949"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPRF","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9670","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9670","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10586","url":"https://www.uniprot.org/uniprotkb/P10586/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPRF","url":"https://civicdb.org/features/4695","note":"2 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA PTPRF: RNA low tissue specificity; no normal tissue stained high; highest cancer staining endometrial cancer (3 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PTPRF tissue","url":"https://www.proteinatlas.org/ENSG00000142949-PTPRF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000142949 associations","url":"https://platform.opentargets.org/target/ENSG00000142949/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9670","ensembl":"ENSG00000142949","uniprot":"P10586","entrez":"5792","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Streuli et al, J. Exp. Med, 1988, \"A new member of the immunoglobulin superfamily that has a cytoplasmic region homologous to the leukocyte common antigen\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2972792/","biology":"Possible cell adhesion receptor. It possesses an intrinsic protein tyrosine phosphatase activity (PTPase) and dephosphorylates EPHA2 regulating its activity. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Location: Membrane (UniProt). Locus 1p34.2 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"ptprk","kind":"target","name":"PTPRK","aka":["protein tyrosine phosphatase receptor type K","Receptor-type tyrosine-protein phosphatase kappa","R-PTP-kappa"],"tldr":"PTPRK (Receptor-type tyrosine-protein phosphatase kappa) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Bladder & urothelial cancer, Renal cell carcinoma and 5 more.","summary":"Regulation of processes involving cell contact and adhesion such as growth control, tumour invasion, and metastasis. Negative regulator of EGFR signalling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin.\n\nOpen Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes literature 0.93, animal model 0.59, genetic association 0.50, somatic mutation 0.85). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Bladder Urothelial Carcinoma, Renal Clear Cell Carcinoma, Non-Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9674","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9674"},{"label":"UniProt Q15262","url":"https://www.uniprot.org/uniprotkb/Q15262/entry"},{"label":"NCBI Gene 5796","url":"https://www.ncbi.nlm.nih.gov/gene/5796"},{"label":"Ensembl ENSG00000152894","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000152894"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","urothelial","rcc","skin-cancer","colorectal","melanoma","clear-cell-rcc","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPRK","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9674","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9674","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15262","url":"https://www.uniprot.org/uniprotkb/Q15262/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000152894","url":"https://platform.opentargets.org/target/ENSG00000152894/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: colorectal cancer 0.55, melanoma 0.58, skin cancer 0.56, breast cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen PTPRK","url":"https://www.intogen.org/search?gene=PTPRK","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9674","ensembl":"ENSG00000152894","uniprot":"Q15262","entrez":"5796","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fuchs et al, J. Biol. Chem, 1996, \"Association of human protein-tyrosine phosphatase kappa with members of the armadillo family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8663237/","biology":"Regulation of processes involving cell contact and adhesion such as growth control, tumour invasion, and metastasis. Negative regulator of EGFR signalling pathway. Forms complexes with beta-catenin and gamma-catenin/plakoglobin. Beta-catenin may be a substrate for the catalytic activity of PTPRK/PTP-kappa. Location: Cell junction, adherens junction; Cell membrane (UniProt). Locus 6q22.33 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.58 with melanoma (MONDO_0005105)"],"targetClass":"enzyme","prevalence":[]},{"id":"ptprt","kind":"target","name":"PTPRT","aka":["protein tyrosine phosphatase receptor type T","Receptor-type tyrosine-protein phosphatase T","RPTPrho","KIAA0283"],"tldr":"PTPRT (Receptor-type tyrosine-protein phosphatase T) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Head and neck squamous cell carcinoma, Oesophageal cancer, Gastric & gastro-oesophageal junction cancer and 5 more.","summary":"May be involved in both signal transduction and cellular adhesion in the CNS.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming JSI-124 and Stattic. Open Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes literature 0.94, animal model 0.62, genetic association 0.32, somatic mutation 0.90). IntOGen calls it a driver in 8 cohorts (7 activating, 1 loss-of-function), covering Oesophageal Adenocarcinoma, Hepatocellular Carcinoma, Head and Neck Squamous Cell Carcinoma, Melanoma, Ovarian Epithelial Tumour, Pancreatic Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9682","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9682"},{"label":"UniProt O14522","url":"https://www.uniprot.org/uniprotkb/O14522/entry"},{"label":"NCBI Gene 11122","url":"https://www.ncbi.nlm.nih.gov/gene/11122"},{"label":"Ensembl ENSG00000196090","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196090"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["head-and-neck","esophageal","gastric","ovarian","hcc","pancreatic","skin-cancer","breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 7 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTPRT","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9682","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9682","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14522","url":"https://www.uniprot.org/uniprotkb/O14522/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPRT","url":"https://civicdb.org/features/8878","note":"1 evidence items, 0 assertions, 1 variants; diseases: Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000196090","url":"https://platform.opentargets.org/target/ENSG00000196090/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: gastric cancer 0.54, oesophageal cancer 0.54, ovarian cancer 0.50, melanoma 0.59, thyroid cancer 0.52, neuroendocrine neoplasm 0.52 (GraphQL API, CC0)"},{"label":"IntOGen PTPRT","url":"https://www.intogen.org/search?gene=PTPRT","note":"driver in 8 cohorts (Act 7, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA PTPRT: RNA tissue enhanced (brain 14 nTPM, fallopian tube 10 nTPM, lymphoid tissue 6 nTPM); high antibody staining in 1 normal tissue; highest cancer staining carcinoid (1 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma, Oesophageal cancer, Gastric & gastro-oesophageal junction cancer, Ovarian cancer, Hepatocellular carcinoma, Pancreatic ductal adenocarcinoma, Skin cancer (all types) and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O14522","url":"https://www.uniprot.org/uniprotkb/O14522/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTPRT","url":"https://civicdb.org/features/8878","note":"1 evidence items, 0 assertions, 1 variants; diseases: Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen PTPRT","url":"https://www.intogen.org/search?gene=PTPRT","note":"driver in 8 cohorts (Act 7, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas PTPRT tissue","url":"https://www.proteinatlas.org/ENSG00000196090-PTPRT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000196090 associations","url":"https://platform.opentargets.org/target/ENSG00000196090/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9682","ensembl":"ENSG00000196090","uniprot":"O14522","entrez":"11122","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohara et al, DNA Res, 1997, \"Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9179496/","biology":"May be involved in both signal transduction and cellular adhesion in the CNS. Location: Membrane (UniProt). Locus 20q12-q13.11 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (HNSC)","Oesophageal cancer: Open Targets association 0.54 with oesophageal cancer (MONDO_0007576); IntOGen driver in 2 cohorts (ESCA)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.54 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Ovarian cancer: Open Targets association 0.50 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"enzyme","prevalence":[]},{"id":"pttg1","kind":"target","name":"PTTG1","aka":["PTTG1 regulator of sister chromatid separation, securin","Securin","HPTTG","EAP1","securin","ECRAR","TUTR1"],"tldr":"PTTG1 (Securin) is a gene. The public catalogues list it as a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Meningioma.","summary":"Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9690","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9690"},{"label":"UniProt O95997","url":"https://www.uniprot.org/uniprotkb/O95997/entry"},{"label":"NCBI Gene 9232","url":"https://www.ncbi.nlm.nih.gov/gene/9232"},{"label":"Ensembl ENSG00000164611","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164611"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["meningioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PTTG1","role":["biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9690","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9690","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95997","url":"https://www.uniprot.org/uniprotkb/O95997/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PTTG1","url":"https://civicdb.org/features/7297","note":"1 evidence items, 0 assertions, 1 variants; diseases: Meningioma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists PTTG1 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA PTTG1: RNA tissue enhanced (bone marrow 151 nTPM, lymphoid tissue 135 nTPM, testis 164 nTPM); blood lineage lineage enriched (T-cells 219 nTPM); high antibody staining in 3 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PTTG1 tissue","url":"https://www.proteinatlas.org/ENSG00000164611-PTTG1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164611 associations","url":"https://platform.opentargets.org/target/ENSG00000164611/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9690","ensembl":"ENSG00000164611","uniprot":"O95997","entrez":"9232","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dominguez et al, Oncogene, 1998, \"hPTTG, a human homologue of rat PTTG, is overexpressed in hematopoietic neoplasms. Evidence for a transcriptional activation function of hPTTG\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9811450/","biology":"Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes. At the onset of anaphase, it is ubiquitinated, conducting to its destruction and to the liberation of ESPL1. Its function is however not limited to a blocking activity, since it is required to activate ESPL1. Negatively regulates the transcriptional activity and related apoptosis activity of TP53. Location: Cytoplasm; Nucleus (UniProt). Locus 5q33.3 (HGNC).","whereFound":["Meningioma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"pvrig","kind":"target","name":"PVRIG (CD112R)","aka":["CD112R","PVR related immunoglobulin domain containing","C7orf15"],"tldr":"PVRIG is a brake on killer T cells and NK cells that reads CD112 on tumour cells, a cousin of the TIGIT pair. The antibody COM701 blocks it and is being tested in ovarian cancer.","summary":"PVRIG (chromosome 7q22.1) is a cell-surface receptor for NECTIN2 (CD112) that may act as a co-inhibitory receptor suppressing T-cell receptor signals, inhibits T-cell proliferation after NECTIN2 binding and competes with CD226 for it; it is expressed at low levels on freshly isolated T and NK cells, predominantly memory and effector CD8 T cells and both CD16-positive and CD16-negative NK cells, and not on B cells, naive or helper T cells, monocytes or neutrophils (UniProt Q6DKI7). COM701 completed a phase 1/2 study with the TIGIT antibody BMS-986207 and nivolumab (NCT04570839) and is recruiting in relapsed platinum-sensitive ovarian cancer (NCT06888921).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:32190","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:32190"},{"label":"UniProt Q6DKI7","url":"https://www.uniprot.org/uniprotkb/Q6DKI7/entry"},{"label":"NCBI Gene 79037","url":"https://www.ncbi.nlm.nih.gov/gene/79037"},{"label":"ClinicalTrials.gov NCT06888921","url":"https://clinicaltrials.gov/study/NCT06888921"},{"label":"Compugen, which predicted the target computationally and made the antibody","url":"https://www.cgen.com"}],"tags":["checkpoint-map"],"related":["nectin2","tigit","nivolumab"],"cancers":["ovarian"],"sections":[],"technologies":["checkpoint-inhibitor","tigit-blockade"],"targets":[],"drugs":[],"companies":["compugen"],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"PVRIG","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:32190","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:32190","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt Q6DKI7","url":"https://www.uniprot.org/uniprotkb/Q6DKI7/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:32190","ensembl":"ENSG00000213413","uniprot":"Q6DKI7","entrez":"79037","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"An immunoglobulin-domain receptor with an ITIM-like tail; part of the CD226/TIGIT/CD96/PVRIG axis over CD155 and CD112.","whereFound":["Memory and effector CD8 T cells and NK cells (UniProt Q6DKI7)","Ovarian cancer trial of COM701 (NCT06888921)"],"targetClass":"checkpoint","prevalence":[]},{"id":"pwwp2a","kind":"target","name":"PWWP2A","aka":["PWWP domain containing 2A","PWWP domain-containing protein 2A","KIAA1935"],"tldr":"PWWP2A (PWWP domain-containing protein 2A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"Chromatin-binding protein that acts as an adapter between distinct nucleosome components (H3K36me3 or H2A.Z) and chromatin-modifying complexes, contributing to the regulation of the levels of histone acetylation at actively transcribed genes. Competes with CHD4 and MBD3 for interaction with MTA1 to form a NuRD subcomplex, preventing the formation of full NuRD complex (containing CHD4 and MBD3), leading to recruitment of HDACs to gene promoters resulting in turn in the deacetylation of nearby H3K27 and H2A.Z. Plays a role in facilitating transcriptional elongation and repression of spurious transcription initiation through regulation of histone acetylation.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29406","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29406"},{"label":"UniProt Q96N64","url":"https://www.uniprot.org/uniprotkb/Q96N64/entry"},{"label":"NCBI Gene 114825","url":"https://www.ncbi.nlm.nih.gov/gene/114825"},{"label":"Ensembl ENSG00000170234","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170234"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PWWP2A","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:29406","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29406","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96N64","url":"https://www.uniprot.org/uniprotkb/Q96N64/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen PWWP2A","url":"https://www.intogen.org/search?gene=PWWP2A","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:29406","ensembl":"ENSG00000170234","uniprot":"Q96N64","entrez":"114825","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11572484/","biology":"Chromatin-binding protein that acts as an adapter between distinct nucleosome components (H3K36me3 or H2A.Z) and chromatin-modifying complexes, contributing to the regulation of the levels of histone acetylation at actively transcribed genes. Competes with CHD4 and MBD3 for interaction with MTA1 to form a NuRD subcomplex, preventing the formation of full NuRD complex (containing CHD4 and MBD3), leading to recruitment of HDACs to gene promoters resulting in turn in the deacetylation of nearby H3K27 and H2A.Z. Plays a role in facilitating transcriptional elongation and repression of spurious transcription initiation through regulation of histone acetylation. Essential for proper mitosis progression. Location: Nucleus (UniProt). Locus 5q33.3 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"pxdnl","kind":"target","name":"PXDNL","aka":["peroxidasin like","Probable oxidoreductase PXDNL","FLJ25471","PMR1"],"tldr":"PXDNL (Probable oxidoreductase PXDNL) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"Probable oxidoreductase. Lacks peroxidase activity. Inhibits the peroxidase activity of PXDN through its interaction.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Pembrolizumab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26359","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26359"},{"label":"UniProt A1KZ92","url":"https://www.uniprot.org/uniprotkb/A1KZ92/entry"},{"label":"NCBI Gene 137902","url":"https://www.ncbi.nlm.nih.gov/gene/137902"},{"label":"Ensembl ENSG00000147485","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147485"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PXDNL","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:26359","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26359","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt A1KZ92","url":"https://www.uniprot.org/uniprotkb/A1KZ92/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PXDNL","url":"https://civicdb.org/features/18364","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Adenocarcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PXDNL: RNA tissue enriched (heart muscle 43 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PXDNL tissue","url":"https://www.proteinatlas.org/ENSG00000147485-PXDNL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147485 associations","url":"https://platform.opentargets.org/target/ENSG00000147485/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:26359","ensembl":"ENSG00000147485","uniprot":"A1KZ92","entrez":"137902","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Probable oxidoreductase. Lacks peroxidase activity. Inhibits the peroxidase activity of PXDN through its interaction. Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs. Location: Secreted; Endoplasmic reticulum; Cell membrane; Cytoplasm (UniProt). Locus 8q11.22-q11.23 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"qki","kind":"target","name":"QKI","aka":["QKI, KH domain containing RNA binding","KH domain-containing RNA-binding protein QKI","QK3"],"tldr":"QKI (KH domain-containing RNA-binding protein QKI) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Skin cancer, Colorectal cancer and 3 more.","summary":"RNA reader protein, which recognises and binds specific RNAs, thereby regulating RNA metabolic processes, such as pre-mRNA splicing, circular RNA (circRNA) formation, mRNA export, mRNA stability and/or translation. Involved in various cellular processes, such as mRNA storage into stress granules, apoptosis, lipid deposition, interferon response, glial cell fate and development. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.76, literature 0.97, genetic association 0.00, somatic mutation 0.82, animal model 0.47). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Glioblastoma Multiforme, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21100","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21100"},{"label":"UniProt Q96PU8","url":"https://www.uniprot.org/uniprotkb/Q96PU8/entry"},{"label":"NCBI Gene 9444","url":"https://www.ncbi.nlm.nih.gov/gene/9444"},{"label":"Ensembl ENSG00000112531","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112531"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","skin-cancer","colorectal","gastric","melanoma","glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"QKI","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:21100","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21100","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96PU8","url":"https://www.uniprot.org/uniprotkb/Q96PU8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000112531","url":"https://platform.opentargets.org/target/ENSG00000112531/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.51, gastric cancer 0.50, melanoma 0.57, skin cancer 0.54, breast cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen QKI","url":"https://www.intogen.org/search?gene=QKI","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:21100","ensembl":"ENSG00000112531","uniprot":"Q96PU8","entrez":"9444","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xia J.-H. et al, 1999, \"Molecular cloning of human QUAKING gene\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96PU8/entry","biology":"RNA reader protein, which recognises and binds specific RNAs, thereby regulating RNA metabolic processes, such as pre-mRNA splicing, circular RNA (circRNA) formation, mRNA export, mRNA stability and/or translation. Involved in various cellular processes, such as mRNA storage into stress granules, apoptosis, lipid deposition, interferon response, glial cell fate and development. Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence. Acts as a mRNA modification reader that specifically recognises and binds mRNA transcripts modified by internal N(7)-methylguanine (m7G). Promotes the formation of circular RNAs (circRNAs) during the epithelial to mesenchymal transition and in cardiomyocytes: acts by binding to sites flanking circRNA-forming exons. CircRNAs are produced by back-splicing circularisation of pre-mRNAs. Location: Nucleus; Cytoplasm; Cytoplasm, cytosol; Cytoplasm, Stress granule (UniProt). Locus 6q26 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.50 with gastric cancer (MONDO_0001056)","Melanoma: Open Targets association 0.57 with melanoma (MONDO_0005105); IntOGen driver in 1 cohort (MEL)","Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rabl3","kind":"target","name":"RABL3","aka":["RAB, member of RAS oncogene family like 3","Rab-like protein 3","MGC23920"],"tldr":"RABL3 (Rab-like protein 3) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma.","summary":"Small GTPase required for KRAS signalling regulation and modulation of cell proliferation. Regulator of KRAS prenylation, and probably prenylation of other small GTPases. Required for lymphocyte development and function.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.46, genetic association 0.67, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18072","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18072"},{"label":"UniProt Q5HYI8","url":"https://www.uniprot.org/uniprotkb/Q5HYI8/entry"},{"label":"NCBI Gene 285282","url":"https://www.ncbi.nlm.nih.gov/gene/285282"},{"label":"Ensembl ENSG00000144840","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144840"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RABL3","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18072","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18072","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5HYI8","url":"https://www.uniprot.org/uniprotkb/Q5HYI8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RABL3","url":"https://civicdb.org/features/21380","note":"1 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000144840","url":"https://platform.opentargets.org/target/ENSG00000144840/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RABL3: RNA low tissue specificity; no normal tissue stained high; highest cancer staining breast cancer (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RABL3 tissue","url":"https://www.proteinatlas.org/ENSG00000144840-RABL3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000144840 associations","url":"https://platform.opentargets.org/target/ENSG00000144840/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18072","ensembl":"ENSG00000144840","uniprot":"Q5HYI8","entrez":"285282","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Small GTPase required for KRAS signalling regulation and modulation of cell proliferation. Regulator of KRAS prenylation, and probably prenylation of other small GTPases. Required for lymphocyte development and function. Not required for myeloid cell development. Interacts with Rab11 to promote ciliary vesicle formation at the mother centriole, thereby regulating early ciliogenesis. The GTP-binding capacity of RABL3 is essential for ciliogenesis. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Golgi apparatus (UniProt). Locus 3q13.33 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"rac1","kind":"target","name":"RAC1","aka":["Rac family small GTPase 1","Ras-related C3 botulinum toxin substrate 1","TC-25","p21-Rac1","Rac-1"],"tldr":"RAC1 (Ras-related C3 botulinum toxin substrate 1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Head and neck squamous cell carcinoma and Melanoma.","summary":"Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarisation, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles. Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in macrophages.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Vemurafenib, Dabrafenib and PLX4720. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes affected pathway 0.59, literature 1.00, genetic association 0.32, somatic mutation 0.93, animal model 0.37). IntOGen calls it a driver in 5 cohorts (5 activating, 0 loss-of-function), covering Head and Neck Squamous Cell Carcinoma, Melanoma, Cutaneous Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9801","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9801"},{"label":"UniProt P63000","url":"https://www.uniprot.org/uniprotkb/P63000/entry"},{"label":"NCBI Gene 5879","url":"https://www.ncbi.nlm.nih.gov/gene/5879"},{"label":"Ensembl ENSG00000136238","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136238"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","head-and-neck","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it an activating (Act) driver in 5 cohorts; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAC1","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9801","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9801","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P63000","url":"https://www.uniprot.org/uniprotkb/P63000/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAC1","url":"https://civicdb.org/features/4753","note":"3 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Skin Melanoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000136238","url":"https://platform.opentargets.org/target/ENSG00000136238/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: melanoma 0.71, skin cancer 0.69 (GraphQL API, CC0)"},{"label":"IntOGen RAC1","url":"https://www.intogen.org/search?gene=RAC1","note":"driver in 5 cohorts (Act 5, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RAC1: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining skin cancer (7 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Head and neck squamous cell carcinoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (melanoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P63000","url":"https://www.uniprot.org/uniprotkb/P63000/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAC1","url":"https://civicdb.org/features/4753","note":"3 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Skin Melanoma (GraphQL API, CC0)"},{"label":"IntOGen RAC1","url":"https://www.intogen.org/search?gene=RAC1","note":"driver in 5 cohorts (Act 5, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RAC1 tissue","url":"https://www.proteinatlas.org/ENSG00000136238-RAC1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136238 associations","url":"https://platform.opentargets.org/target/ENSG00000136238/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9801","ensembl":"ENSG00000136238","uniprot":"P63000","entrez":"5879","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Didsbury et al, J. Biol. Chem, 1989, \"Rac, a novel ras-related family of proteins that are botulinum toxin substrates\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2674130/","biology":"Plasma membrane-associated small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as secretory processes, phagocytosis of apoptotic cells, epithelial cell polarisation, neurons adhesion, migration and differentiation, and growth-factor induced formation of membrane ruffles. Rac1 p21/rho GDI heterodimer is the active component of the cytosolic factor sigma 1, which is involved in stimulation of the NADPH oxidase activity in macrophages. Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. Stimulates PKN2 kinase activity. In concert with RAB7A, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Location: Cell membrane; Melanosome; Cytoplasm; Cell projection, lamellipodium (UniProt). Locus 7p22.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.69 with skin cancer (MONDO_0002898)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Melanoma: Open Targets association 0.71 with melanoma (MONDO_0005105); CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},{"id":"rad21","kind":"target","name":"RAD21","aka":["RAD21 cohesin complex component","Double-strand-break repair protein rad21 homolog","KIAA0078","hHR21","SCC1"],"tldr":"RAD21 (Double-strand-break repair protein rad21 homolog) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Myeloproliferative neoplasms, Lung cancer and 2 more.","summary":"As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions. The cohesin complex may also play a role in spindle pole assembly during mitosis. In interphase, cohesins may function in the control of gene expression by binding to numerous sites within the genome.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.29, somatic mutation 0.86). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Acute Myeloid Leukaemia, Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9811","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9811"},{"label":"UniProt O60216","url":"https://www.uniprot.org/uniprotkb/O60216/entry"},{"label":"NCBI Gene 5885","url":"https://www.ncbi.nlm.nih.gov/gene/5885"},{"label":"Ensembl ENSG00000164754","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164754"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","lung-cancer","aml","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt keyword \"DNA repair\". Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAD21","role":["oncogene-driver","tumour-suppressor","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9811","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9811","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60216","url":"https://www.uniprot.org/uniprotkb/O60216/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164754","url":"https://platform.opentargets.org/target/ENSG00000164754/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.60, myeloproliferative neoplasm 0.64, lung cancer 0.54, leukaemia 0.65 (GraphQL API, CC0)"},{"label":"IntOGen RAD21","url":"https://www.intogen.org/search?gene=RAD21","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9811","ensembl":"ENSG00000164754","uniprot":"O60216","entrez":"5885","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584044/","biology":"As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions. The cohesin complex may also play a role in spindle pole assembly during mitosis. In interphase, cohesins may function in the control of gene expression by binding to numerous sites within the genome. May control RUNX1 gene expression. Binds to and represses APOB gene promoter. May play a role in embryonic gut development, possibly through the regulation of enteric neuron development. Location: Nucleus; Nucleus matrix; Chromosome; Chromosome, centromere (UniProt). Locus 8q24.11 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.65 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.64 with myeloproliferative neoplasm (MONDO_0020076)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Acute myeloid leukaemia: Open Targets association 0.60 with acute myeloid leukaemia (MONDO_0018874); IntOGen driver in 2 cohorts (AML)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"transcription","prevalence":[]},{"id":"rad23b","kind":"target","name":"RAD23B","aka":["RAD23 nucleotide excision repair protein B","Lysine-specific demethylase RAD23B","HHR23B","P58","HR23B"],"tldr":"RAD23B (Lysine-specific demethylase RAD23B) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas.","summary":"Multifunctional protein that participates in histone H4K20 demethylation, DNA repair, ubiquitin-dependent protein degradation and transcriptional regulation. Specifically demethylates mono-, di- and trimethylated 'Lys-20' of histone H4 (H4K20me1, H4K20me2, H4K20me3, respectively) into unmethylated forms. Activates the transcription of coding genes by demethylating H4K20me1 and the transcription of repetitive elements by demethylating H4K20me3.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Vorinostat.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9813","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9813"},{"label":"UniProt P54727","url":"https://www.uniprot.org/uniprotkb/P54727/entry"},{"label":"NCBI Gene 5887","url":"https://www.ncbi.nlm.nih.gov/gene/5887"},{"label":"Ensembl ENSG00000119318","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119318"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAD23B","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9813","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9813","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P54727","url":"https://www.uniprot.org/uniprotkb/P54727/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAD23B","url":"https://civicdb.org/features/4760","note":"1 evidence items, 0 assertions, 1 variants; diseases: Sarcoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RAD23B: RNA low tissue specificity; high antibody staining in 37 normal tissues; highest cancer staining prostate cancer (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RAD23B tissue","url":"https://www.proteinatlas.org/ENSG00000119318-RAD23B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000119318 associations","url":"https://platform.opentargets.org/target/ENSG00000119318/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9813","ensembl":"ENSG00000119318","uniprot":"P54727","entrez":"5887","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Masutani et al, EMBO J, 1994, \"Purification and cloning of a nucleotide excision repair complex involving the Xeroderma pigmentosum group C protein and a human homologue of yeast RAD23\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8168482/","biology":"Multifunctional protein that participates in histone H4K20 demethylation, DNA repair, ubiquitin-dependent protein degradation and transcriptional regulation. Specifically demethylates mono-, di- and trimethylated 'Lys-20' of histone H4 (H4K20me1, H4K20me2, H4K20me3, respectively) into unmethylated forms. Activates the transcription of coding genes by demethylating H4K20me1 and the transcription of repetitive elements by demethylating H4K20me3. Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Binds to polyubiquitin chains. Proposed to be capable to bind simultaneously to the 26S proteasome and to polyubiquitinated substrates and to deliver ubiquitinated proteins to the proteasome. Location: Nucleus; Cytoplasm (UniProt). Locus 9q31.2 (HGNC).","whereFound":["Sarcomas: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"rad50","kind":"target","name":"RAD50","aka":["RAD50 double strand break repair protein","DNA repair protein RAD50","hRad50","RAD50-2"],"tldr":"RAD50 (DNA repair protein RAD50) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer, Breast cancer, Colorectal cancer and 2 more.","summary":"Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Irinotecan and Checkpoint Kinase Inhibitor AZD7762. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.01, affected pathway 0.84, literature 0.94, genetic association 0.89, somatic mutation 0.78, animal model 0.62). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Glioblastoma Multiforme.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9816","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9816"},{"label":"UniProt Q92878","url":"https://www.uniprot.org/uniprotkb/Q92878/entry"},{"label":"NCBI Gene 10111","url":"https://www.ncbi.nlm.nih.gov/gene/10111"},{"label":"Ensembl ENSG00000113522","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113522"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["ovarian","breast-cancer","colorectal","prostate","glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Ureter Small Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAD50","role":["drug-target","oncogene-driver","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9816","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9816","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92878","url":"https://www.uniprot.org/uniprotkb/Q92878/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAD50","url":"https://civicdb.org/features/8032","note":"1 evidence items, 0 assertions, 1 variants; diseases: Ureter Small Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000113522","url":"https://platform.opentargets.org/target/ENSG00000113522/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: colorectal cancer 0.55, prostate cancer 0.51, ovarian cancer 0.67, breast cancer 0.66 (GraphQL API, CC0)"},{"label":"IntOGen RAD50","url":"https://www.intogen.org/search?gene=RAD50","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RAD50: RNA low tissue specificity; high antibody staining in 26 normal tissues; highest cancer staining head and neck cancer (3 of 3 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Breast cancer (all types), Colorectal cancer, Prostate cancer, Brain and spinal cord tumours (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (hereditary neoplastic syndrome, hereditary breast ovarian cancer syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q92878","url":"https://www.uniprot.org/uniprotkb/Q92878/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAD50","url":"https://civicdb.org/features/8032","note":"1 evidence items, 0 assertions, 1 variants; diseases: Ureter Small Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen RAD50","url":"https://www.intogen.org/search?gene=RAD50","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RAD50 tissue","url":"https://www.proteinatlas.org/ENSG00000113522-RAD50/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000113522 associations","url":"https://platform.opentargets.org/target/ENSG00000113522/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9816","ensembl":"ENSG00000113522","uniprot":"Q92878","entrez":"10111","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dolganov G.M. et al, Mol. Cell. Biol, 1996, \"Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8756642/","biology":"Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis. The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S and G2 phases. The complex (1) mediates the end resection of damaged DNA, which generates proper single-stranded DNA, a key initial steps in HR, and is (2) required for the recruitment of other repair factors and efficient activation of ATM and ATR upon DNA damage. The MRN complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11, to initiate end resection, which is required for single-strand invasion and recombination. Within the complex, RAD50 is both required to bind DNA ends and hold them in close proximity and regulate the activity of MRE11. RAD50 provides an ATP-dependent control of MRE11 by positioning DNA ends into the MRE11 active site: ATP-binding induces a large structural change from an open form with accessible MRE11 nuclease sites into a closed form. Location: Nucleus; Chromosome, telomere; Chromosome (UniProt). Locus 5q31.1 (HGNC).","whereFound":["Ovarian cancer: Open Targets association 0.67 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.66 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)","Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"oncogene","prevalence":[]},{"id":"rad51","kind":"target","name":"RAD51","aka":["RAD51 recombinase","DNA repair protein RAD51 homolog 1","HsRad51","HsT16930","BRCC5","FANCR","RAD51A"],"tldr":"RAD51 (DNA repair protein RAD51 homolog 1) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Homologous DNA recombinase that catalyses strand exchange, a key step in DNA repair through homologous recombination (HR). Binds to single-stranded DNA (ssDNA) in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange. Catalyses the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.87, literature 0.99, genetic association 0.70, somatic mutation 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9817","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9817"},{"label":"UniProt Q06609","url":"https://www.uniprot.org/uniprotkb/Q06609/entry"},{"label":"NCBI Gene 5888","url":"https://www.ncbi.nlm.nih.gov/gene/5888"},{"label":"Ensembl ENSG00000051180","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000051180"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["homologous-recombination-repair"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAD51","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9817","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9817","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06609","url":"https://www.uniprot.org/uniprotkb/Q06609/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000051180","url":"https://platform.opentargets.org/target/ENSG00000051180/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: breast cancer 0.64 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9817","ensembl":"ENSG00000051180","uniprot":"Q06609","entrez":"5888","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shinohara et al, Nat. Genet, 1993, \"Cloning of human, mouse and fission yeast recombination genes homologous to RAD51 and recA\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8358431/","biology":"Homologous DNA recombinase that catalyses strand exchange, a key step in DNA repair through homologous recombination (HR). Binds to single-stranded DNA (ssDNA) in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange. Catalyses the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. RAD51 targeting to ssDNA promotes removal of replication protein-A (RPA) from ssDNA and stabilisation of RAD51-ssDNA filaments by blocking ATP hydrolysis. Nucleosomal DNA is peeled from the histone surface by the RAD51 filament. Recruited to resolve stalled replication forks during replication stress. Location: Chromosome; Nucleus; Cytoplasm; Cytoplasm, perinuclear region (UniProt). Locus 15q15.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.64 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"rad51b","kind":"target","name":"RAD51B","aka":["RAD51 paralog B","DNA repair protein RAD51 homolog 2","REC2","hREC2","R51H2","RAD51L1"],"tldr":"RAD51B (DNA repair protein RAD51 homolog 2) is a gene. The public catalogues list it as a drug target, a biomarker, a fusion partner and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Prostate cancer, Ovarian cancer and 2 more.","summary":"Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Olaparib. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes literature 0.89, affected pathway 0.87, genetic association 0.64, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9822","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9822"},{"label":"UniProt O15315","url":"https://www.uniprot.org/uniprotkb/O15315/entry"},{"label":"NCBI Gene 5890","url":"https://www.ncbi.nlm.nih.gov/gene/5890"},{"label":"Ensembl ENSG00000182185","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182185"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","prostate","ovarian","lung-cancer","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAD51B","role":["drug-target","biomarker","fusion-partner","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9822","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9822","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15315","url":"https://www.uniprot.org/uniprotkb/O15315/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAD51B","url":"https://civicdb.org/features/4763","note":"2 evidence items, 0 assertions, 2 variants; diseases: Ovarian Cancer, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000182185","url":"https://platform.opentargets.org/target/ENSG00000182185/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: prostate cancer 0.52, ovarian cancer 0.56, skin cancer 0.52, breast cancer 0.68, lung cancer 0.54 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RAD51B: RNA low tissue specificity; high antibody staining in 40 normal tissues; highest cancer staining thyroid cancer (4 of 4 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Prostate cancer, Ovarian cancer, Lung cancer (all types), Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O15315","url":"https://www.uniprot.org/uniprotkb/O15315/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAD51B","url":"https://civicdb.org/features/4763","note":"2 evidence items, 0 assertions, 2 variants; diseases: Ovarian Cancer, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Human Protein Atlas RAD51B tissue","url":"https://www.proteinatlas.org/ENSG00000182185-RAD51B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000182185 associations","url":"https://platform.opentargets.org/target/ENSG00000182185/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9822","ensembl":"ENSG00000182185","uniprot":"O15315","entrez":"5890","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rice M.C. et al, Proc. Natl. Acad. Sci. U.S.A, 1997, \"Isolation of human and mouse genes based on homology to REC2, a recombinational repair gene from the fungus Ustilago maydis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9207106/","biology":"Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. Location: Nucleus (UniProt). Locus 14q24.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.68 with breast cancer (MONDO_0007254)","Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315); CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.56 with ovarian cancer (MONDO_0008170); CIViC evidence names this disease","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)"],"targetClass":"other","prevalence":[]},{"id":"rad51c","kind":"target","name":"RAD51C","aka":["RAD51 paralog C","DNA repair protein RAD51 homolog 3","RAD51L2","FANCO"],"tldr":"RAD51C (DNA repair protein RAD51 homolog 3) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer, Breast cancer, Gastric & gastro-oesophageal junction cancer and 2 more.","summary":"Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD51 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Olaparib. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes genetic literature 0.86, affected pathway 0.81, literature 0.97, genetic association 0.88, somatic mutation 0.96, animal model 0.25).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9820"},{"label":"UniProt O43502","url":"https://www.uniprot.org/uniprotkb/O43502/entry"},{"label":"NCBI Gene 5889","url":"https://www.ncbi.nlm.nih.gov/gene/5889"},{"label":"Ensembl ENSG00000108384","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108384"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["ovarian","breast-cancer","gastric","prostate","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAD51C","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9820","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43502","url":"https://www.uniprot.org/uniprotkb/O43502/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAD51C","url":"https://civicdb.org/features/4762","note":"1 evidence items, 0 assertions, 1 variants; diseases: Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000108384","url":"https://platform.opentargets.org/target/ENSG00000108384/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: gastric cancer 0.61, ovarian cancer 0.83, melanoma 0.50, breast cancer 0.82 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Fanconi anemia complementation group O (FANCO) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA RAD51C: RNA low tissue specificity; no normal tissue stained high. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Prostate cancer, Skin cancer (all types)); Open Targets associates it with 9 specific cancer types at or above 0.5 (hereditary breast ovarian cancer syndrome, ovarian cancer, RAD51C-related cancer predisposition, hereditary neoplastic syndrome, ovarian carcinoma, breast carcinoma and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O43502","url":"https://www.uniprot.org/uniprotkb/O43502/entry","note":"involvement in disease"},{"label":"Human Protein Atlas RAD51C tissue","url":"https://www.proteinatlas.org/ENSG00000108384-RAD51C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108384 associations","url":"https://platform.opentargets.org/target/ENSG00000108384/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9820","ensembl":"ENSG00000108384","uniprot":"O43502","entrez":"5889","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dosanjh M.K. et al, Nucleic Acids Res, 1998, \"Isolation and characterization of RAD51C, a new human member of the RAD51 family of related genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9469824/","biology":"Essential for the homologous recombination (HR) pathway of DNA repair. Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Part of the RAD51 paralog protein complexes BCDX2 and CX3 which act at different stages of the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 seems to act downstream of BRCA2 recruitment and upstream of RAD51 recruitment; CX3 seems to act downstream of RAD51 recruitment; both complexes bind predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway. Location: Nucleus; Cytoplasm; Cytoplasm, perinuclear region; Mitochondrion (UniProt). Locus 17q22 (HGNC).","whereFound":["Ovarian cancer: Open Targets association 0.83 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.82 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.61 with gastric cancer (MONDO_0001056)","Prostate cancer: CIViC evidence names this disease","Melanoma: Open Targets association 0.50 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},{"id":"rad51d","kind":"target","name":"RAD51D","aka":["RAD51 paralog D","DNA repair protein RAD51 homolog 4","R51H3","Trad","HsTRAD","RAD51L3"],"tldr":"RAD51D (DNA repair protein RAD51 homolog 4) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer, Breast cancer, Gastric & gastro-oesophageal junction cancer and 3 more.","summary":"Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Olaparib. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.88, affected pathway 0.87, literature 0.86, genetic association 0.87, somatic mutation 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9823","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9823"},{"label":"UniProt O75771","url":"https://www.uniprot.org/uniprotkb/O75771/entry"},{"label":"NCBI Gene 5892","url":"https://www.ncbi.nlm.nih.gov/gene/5892"},{"label":"Ensembl ENSG00000185379","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185379"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["ovarian","breast-cancer","gastric","prostate","colorectal","brain-tumours"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAD51D","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9823","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9823","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75771","url":"https://www.uniprot.org/uniprotkb/O75771/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAD51D","url":"https://civicdb.org/features/4765","note":"2 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer, Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000185379","url":"https://platform.opentargets.org/target/ENSG00000185379/associations","note":"association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: colorectal cancer 0.59, gastric cancer 0.64, ovarian cancer 0.80, brain cancer 0.51, breast cancer 0.78 (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"many-types","specificityNote":"Germline variant: UniProt lists Breast-ovarian cancer, familial, 4 (BROVCA4) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA RAD51D: RNA low tissue specificity; no normal tissue stained high. Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Breast cancer (all types), Gastric & gastro-oesophageal junction cancer, Prostate cancer, Colorectal cancer, Brain and spinal cord tumours (all types)); Open Targets associates it with 8 specific cancer types at or above 0.5 (hereditary breast ovarian cancer syndrome, ovarian cancer, ovarian carcinoma, RAD51D-related cancer predisposition, hereditary neoplastic syndrome, gastric cancer and more). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O75771","url":"https://www.uniprot.org/uniprotkb/O75771/entry","note":"involvement in disease"},{"label":"Human Protein Atlas RAD51D tissue","url":"https://www.proteinatlas.org/ENSG00000185379-RAD51D/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185379 associations","url":"https://platform.opentargets.org/target/ENSG00000185379/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9823","ensembl":"ENSG00000185379","uniprot":"O75771","entrez":"5892","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cartwright et al, Nucleic Acids Res, 1998, \"Isolation of novel human and mouse genes of the recA/RAD51 recombination-repair gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9512535/","biology":"Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. Bind to single-stranded DNA (ssDNA) and has DNA-dependent ATPase activity. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Location: Nucleus; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Chromosome, telomere (UniProt). Locus 17q12 (HGNC).","whereFound":["Ovarian cancer: Open Targets association 0.80 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.78 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.64 with gastric cancer (MONDO_0001056)","Prostate cancer: CIViC evidence names this disease","Colorectal cancer: Open Targets association 0.59 with colorectal cancer (MONDO_0005575)","Brain and spinal cord tumours: Open Targets association 0.51 with brain cancer (MONDO_0001657)"],"targetClass":"other","prevalence":[]},{"id":"rad54l","kind":"target","name":"RAD54L","aka":["RAD54 like","DNA repair and recombination protein RAD54-like","hHR54","hRAD54","RAD54A"],"tldr":"RAD54L (DNA repair and recombination protein RAD54-like) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Multifunctional ATPase that plays a role in homologous recombination (HR) which is a major pathway for repairing DNA double-strand breaks (DSBs), single-stranded DNA (ssDNA) gaps, and stalled or collapsed replication forks. Acts as a molecular motor during the homology search and guides RAD51 ssDNA along a donor dsDNA thereby changing the homology search from the diffusion-based mechanism to a motor-guided mechanism. Also plays an essential role in RAD51-mediated synaptic complex formation which consists of three strands encased in a protein filament formed once homology is recognised.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Olaparib. Open Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.91, animal model 0.55, genetic association 0.76, somatic mutation 0.55).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9826","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9826"},{"label":"UniProt Q92698","url":"https://www.uniprot.org/uniprotkb/Q92698/entry"},{"label":"NCBI Gene 8438","url":"https://www.ncbi.nlm.nih.gov/gene/8438"},{"label":"Ensembl ENSG00000085999","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085999"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAD54L","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9826","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9826","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92698","url":"https://www.uniprot.org/uniprotkb/Q92698/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RAD54L","url":"https://civicdb.org/features/6676","note":"1 evidence items, 0 assertions, 1 variants; diseases: Castration-resistant Prostate Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000085999","url":"https://platform.opentargets.org/target/ENSG00000085999/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker, dna-repair; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA RAD54L: RNA tissue enhanced (bone marrow 8 nTPM, lymphoid tissue 14 nTPM, testis 12 nTPM); blood lineage lineage enhanced (T-cells 1 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (2 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas RAD54L tissue","url":"https://www.proteinatlas.org/ENSG00000085999-RAD54L/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000085999 associations","url":"https://platform.opentargets.org/target/ENSG00000085999/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9826","ensembl":"ENSG00000085999","uniprot":"Q92698","entrez":"8438","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kanaar et al, Curr. Biol, 1996, \"Human and mouse homologs of the Saccharomyces cerevisiae RAD54 DNA repair gene: evidence for functional conservation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8805304/","biology":"Multifunctional ATPase that plays a role in homologous recombination (HR) which is a major pathway for repairing DNA double-strand breaks (DSBs), single-stranded DNA (ssDNA) gaps, and stalled or collapsed replication forks. Acts as a molecular motor during the homology search and guides RAD51 ssDNA along a donor dsDNA thereby changing the homology search from the diffusion-based mechanism to a motor-guided mechanism. Also plays an essential role in RAD51-mediated synaptic complex formation which consists of three strands encased in a protein filament formed once homology is recognised. Once DNA strand exchange occured, dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Location: Nucleus (UniProt). Locus 1p34.1 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"ranbp2","kind":"target","name":"RANBP2","aka":["RAN binding protein 2","E3 SUMO-protein ligase RanBP2","NUP358","ADANE","ANE1"],"tldr":"RANBP2 (E3 SUMO-protein ligase RanBP2) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Lung cancer, Hepatocellular carcinoma, Renal cell carcinoma and 5 more.","summary":"E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single-stranded RNA (in vitro).\n\nOpen Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.85, affected pathway 0.76, genetic association 0.10, somatic mutation 0.94). IntOGen calls it a driver in 7 cohorts (1 activating, 5 loss-of-function), covering Renal Clear Cell Carcinoma, Hepatocellular Carcinoma, Lung Squamous Cell Carcinoma, Neuroblastoma, Paraganglioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9848","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9848"},{"label":"UniProt P49792","url":"https://www.uniprot.org/uniprotkb/P49792/entry"},{"label":"NCBI Gene 5903","url":"https://www.ncbi.nlm.nih.gov/gene/5903"},{"label":"Ensembl ENSG00000153201","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153201"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","hcc","rcc","pheochromocytoma-paraganglioma","skin-cancer","breast-cancer","nsclc","clear-cell-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RANBP2","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9848","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9848","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49792","url":"https://www.uniprot.org/uniprotkb/P49792/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000153201","url":"https://platform.opentargets.org/target/ENSG00000153201/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: melanoma 0.52, skin cancer 0.55, breast cancer 0.52, lung cancer 0.59 (GraphQL API, CC0)"},{"label":"IntOGen RANBP2","url":"https://www.intogen.org/search?gene=RANBP2","note":"driver in 7 cohorts (Act 1, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9848","ensembl":"ENSG00000153201","uniprot":"P49792","entrez":"5903","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wu et al, J. Biol. Chem, 1995, \"Nup358, a cytoplasmically exposed nucleoporin with peptide repeats, Ran-GTP binding sites, zinc fingers, a cyclophilin A homologous domain, and a leucine-rich region\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7775481/","biology":"E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single-stranded RNA (in vitro). May bind DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin-1. Location: Nucleus; Nucleus membrane; Nucleus, nuclear pore complex; Nucleus envelope (UniProt). Locus 2q13 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.59 with lung cancer (MONDO_0008903)","Hepatocellular carcinoma: IntOGen driver in 2 cohorts (HCC)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Pheochromocytoma and paraganglioma: IntOGen driver in 1 cohort (PGNG)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"rankl","kind":"target","name":"RANK ligand (RANKL)","aka":[],"tldr":"RANK ligand is the signal that tells bone-dissolving cells to get to work. Cancers in the bone hijack it; denosumab blocks it to prevent fractures and other bone complications.","summary":"Receptor activator of nuclear factor kappa-B ligand (TNFSF11) is produced by osteoblasts and stromal cells and binds RANK on osteoclast precursors, driving their maturation and bone resorption. Bone metastases and myeloma cells increase RANKL, feeding a vicious cycle of resorption and growth-factor release. Denosumab, a fully human anti-RANKL antibody, prevents skeletal-related events in bone metastases and myeloma (Xgeva) and treats giant cell tumour of bone and hypercalcaemia of malignancy; it is also an osteoporosis drug (Prolia). Osteonecrosis of the jaw and rebound fractures on discontinuation are the notable risks.","asOf":"2026-09-10","wikipedia":"https://en.wikipedia.org/wiki/RANKL","links":[{"label":"NCBI Gene TNFSF11","url":"https://www.ncbi.nlm.nih.gov/gene/8600"}],"tags":["bone"],"related":[],"cancers":["breast-hr-positive","prostate","multiple-myeloma"],"sections":[],"technologies":["bone-modifying-agents"],"targets":[],"drugs":["denosumab"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence is not a selection criterion: RANKL is produced mainly by osteoblasts and stromal cells and denosumab is given for bone metastases or myeloma regardless of tumour RANKL. No peer-reviewed series with a stated denominator was found for tumour-cell RANKL positivity in HR-positive breast cancer or multiple myeloma; the prostate row reflects a small primary-tumour series."],"symbol":"TNFSF11","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: the record's class is stroma. HPA TNFSF11: RNA tissue enhanced (liver 4 nTPM, lymphoid tissue 12 nTPM); blood lineage lineage enriched (NK-cells 10 nTPM); no normal tissue stained high; highest cancer staining skin cancer (1 of 10 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Breast cancer (all types), Multiple myeloma); approvals of single-target medicines aimed at it also list Lung cancer (all types), Sarcomas (soft tissue, bone, GIST), not counted; Open Targets associates it with 3 specific cancer types at or above 0.5 (bone giant cell tumor, giant cell tumor, plasma cell myeloma). (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TNFSF11 tissue","url":"https://www.proteinatlas.org/ENSG00000120659-TNFSF11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt O14788","url":"https://www.uniprot.org/uniprotkb/O14788/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000120659 associations","url":"https://platform.opentargets.org/target/ENSG00000120659/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11926","ensembl":"ENSG00000120659","uniprot":"O14788","entrez":"8600","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Anderson D.M. et al, Nature, 1997, \"A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9367155/","biology":"RANKL also functions in lymph node development and mammary gland biology; RANK signalling in breast epithelium has been linked to progestin-driven and BRCA1-associated tumorigenesis.","whereFound":["Bone metastases from breast, prostate and lung cancer","Multiple myeloma bone disease","Giant cell tumour of bone"],"targetClass":"stroma","prevalence":[{"cancerId":"prostate","pct":91,"measure":"IHC, RANKL in 10 of 11 primary prostate cancer specimens (heterogeneous staining)","source":"https://doi.org/10.1016/s0090-4295(00)01122-5","note":"Brown 2001 (Urology); 28 patients studied overall, all bone metastases were RANKL-immunoreactive and the fraction of positive tumour cells was higher in bone metastases than in primaries"}]},{"id":"rap1a","kind":"target","name":"RAP1A","aka":["RAP1A, member of RAS oncogene family","Ras-related protein Rap-1A","KREV-1","SMGP21"],"tldr":"RAP1A (Ras-related protein Rap-1A) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localisation to microtubules and membranes. Plays a role in nerve growth factor (NGF)-induced neurite outgrowth.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.97, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9855","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9855"},{"label":"UniProt P62834","url":"https://www.uniprot.org/uniprotkb/P62834/entry"},{"label":"NCBI Gene 5906","url":"https://www.ncbi.nlm.nih.gov/gene/5906"},{"label":"Ensembl ENSG00000116473","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116473"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAP1A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9855","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9855","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62834","url":"https://www.uniprot.org/uniprotkb/P62834/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000116473","url":"https://platform.opentargets.org/target/ENSG00000116473/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9855","ensembl":"ENSG00000116473","uniprot":"P62834","entrez":"5906","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pizon et al, Oncogene, 1988, \"Human cDNAs rap1 and rap2 homologous to the Drosophila gene Dras3 encode proteins closely related to ras in the 'effector' region\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3045729/","biology":"Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localisation to microtubules and membranes. Plays a role in nerve growth factor (NGF)-induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. Facilitates the progressive accumulation of CDH1 at mature desmosome junctions via cAMP-dependent signalling and its interaction with PKP3. Location: Cell membrane; Cytoplasm; Cytoplasm, perinuclear region; Cell junction (UniProt). Locus 1p13.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"rap1b","kind":"target","name":"RAP1B","aka":["RAP1B, member of RAS oncogene family","Ras-related protein Rap-1b","K-REV","RAL1B","DKFZp586H0723"],"tldr":"RAP1B (Ras-related protein Rap-1b) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer.","summary":"GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarising activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localisation of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.97, genetic association 0.00, somatic mutation 0.44). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9857","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9857"},{"label":"UniProt P61224","url":"https://www.uniprot.org/uniprotkb/P61224/entry"},{"label":"NCBI Gene 5908","url":"https://www.ncbi.nlm.nih.gov/gene/5908"},{"label":"Ensembl ENSG00000127314","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127314"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAP1B","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9857","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9857","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P61224","url":"https://www.uniprot.org/uniprotkb/P61224/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000127314","url":"https://platform.opentargets.org/target/ENSG00000127314/associations","note":"association with cancer (MONDO_0004992) 0.69;  (GraphQL API, CC0)"},{"label":"IntOGen RAP1B","url":"https://www.intogen.org/search?gene=RAP1B","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9857","ensembl":"ENSG00000127314","uniprot":"P61224","entrez":"5908","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pizon et al, Nucleic Acids Res, 1988, \"Nucleotide sequence of a human cDNA encoding a ras-related protein (rap1B)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3137530/","biology":"GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarising activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localisation of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function. Location: Cell membrane; Cytoplasm, cytosol; Cell junction (UniProt). Locus 12q15 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rap1gds1","kind":"target","name":"RAP1GDS1","aka":["Rap1 GTPase-GDP dissociation stimulator 1","SmgGDS"],"tldr":"RAP1GDS1 (Rap1 GTPase-GDP dissociation stimulator 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Renal cell carcinoma, Oesophageal cancer, Breast cancer and 2 more.","summary":"Acts as a GEF (guanine nucleotide exchange factor) for the Rho family of small GTP-binding proteins (G proteins) that stimulates the dissociation of GDP to enable subsequent binding of GTP. Additionally, appears to chaperone the processing and/or trafficking of small GTPases containing a C-terminal polybasic region independently of GEF activity. Targets include RAP1A/RAP1B, RHOA, RHOB, RHOC, RAC1 and KRAS.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.43, animal model 0.36, genetic association 0.34, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Renal Clear Cell Carcinoma, Oesophageal Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9859","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9859"},{"label":"UniProt P52306","url":"https://www.uniprot.org/uniprotkb/P52306/entry"},{"label":"NCBI Gene 5910","url":"https://www.ncbi.nlm.nih.gov/gene/5910"},{"label":"Ensembl ENSG00000138698","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138698"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["rcc","esophageal","breast-cancer","clear-cell-rcc","oesophageal-squamous-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RAP1GDS1","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9859","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9859","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P52306","url":"https://www.uniprot.org/uniprotkb/P52306/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138698","url":"https://platform.opentargets.org/target/ENSG00000138698/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: breast cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen RAP1GDS1","url":"https://www.intogen.org/search?gene=RAP1GDS1","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9859","ensembl":"ENSG00000138698","uniprot":"P52306","entrez":"5910","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kikuchi et al, Oncogene, 1992, \"Molecular cloning of the human cDNA for a stimulatory GDP/GTP exchange protein for c-Ki-ras p21 and smg p21\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1549351/","biology":"Acts as a GEF (guanine nucleotide exchange factor) for the Rho family of small GTP-binding proteins (G proteins) that stimulates the dissociation of GDP to enable subsequent binding of GTP. Additionally, appears to chaperone the processing and/or trafficking of small GTPases containing a C-terminal polybasic region independently of GEF activity. Targets include RAP1A/RAP1B, RHOA, RHOB, RHOC, RAC1 and KRAS. Regulates mitochondrial dynamics by controlling RHOT function to promote mitochondrial fission during high calcium conditions. Able to promote the Ca(2+) release from the endoplasmic reticulum via both inositol trisphosphate (Ins3P) and ryanodine sensitive receptors leading to a enhanced mitochondrial Ca(2+) uptake. Acts as a GEF (guanine nucleotide exchange factor) for unprenylated RHOA. Location: Cytoplasm, cytosol; Endoplasmic reticulum; Mitochondrion; Nucleus (UniProt). Locus 4q23 (HGNC).","whereFound":["Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCC)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Clear cell renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Oesophageal squamous cell carcinoma: IntOGen driver in 1 cohort (ESCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rarb","kind":"target","name":"RARB","aka":["retinoic acid receptor beta","Retinoic acid receptor beta","NR1B2","RRB2","RARbeta","RAR-beta"],"tldr":"RARB (Retinoic acid receptor beta) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Acute myeloid leukaemia and 1 more.","summary":"Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.98, animal model 0.65, genetic association 0.00, clinical 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9865","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9865"},{"label":"UniProt P10826","url":"https://www.uniprot.org/uniprotkb/P10826/entry"},{"label":"NCBI Gene 5915","url":"https://www.ncbi.nlm.nih.gov/gene/5915"},{"label":"Ensembl ENSG00000077092","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077092"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","aml","apl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RARB","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9865","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9865","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10826","url":"https://www.uniprot.org/uniprotkb/P10826/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000077092","url":"https://platform.opentargets.org/target/ENSG00000077092/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.60, myeloproliferative neoplasm 0.60, leukaemia 0.60, acute promyelocytic leukaemia 0.59 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RARB: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining pancreatic cancer (2 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute promyelocytic leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RARB tissue","url":"https://www.proteinatlas.org/ENSG00000077092-RARB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000077092 associations","url":"https://platform.opentargets.org/target/ENSG00000077092/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9865","ensembl":"ENSG00000077092","uniprot":"P10826","entrez":"5915","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dejean et al, Nature, 1986, \"Hepatitis B virus DNA integration in a sequence homologous to v-erb-A and steroid receptor genes in a hepatocellular carcinoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3014347/","biology":"Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. The RXRA/RARB heterodimer can act as a repressor on the DR1 element and as an activator on the DR5 element. In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function. Location: Nucleus; Cytoplasm (UniProt). Locus 3p24.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.60 with myeloproliferative neoplasm (MONDO_0020076)","Acute myeloid leukaemia: Open Targets association 0.60 with acute myeloid leukaemia (MONDO_0018874)","Acute promyelocytic leukaemia: Open Targets association 0.59 with acute promyelocytic leukaemia (MONDO_0012883)"],"targetClass":"transcription","prevalence":[]},{"id":"rarg","kind":"target","name":"RARG","aka":["retinoic acid receptor gamma","Retinoic acid receptor gamma","NR1B3","RARgamma","RAR-gamma"],"tldr":"RARG (Retinoic acid receptor gamma) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Acute myeloid leukaemia and 1 more.","summary":"Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.94, animal model 0.75, genetic association 0.18, clinical 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9866","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9866"},{"label":"UniProt P13631","url":"https://www.uniprot.org/uniprotkb/P13631/entry"},{"label":"NCBI Gene 5916","url":"https://www.ncbi.nlm.nih.gov/gene/5916"},{"label":"Ensembl ENSG00000172819","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172819"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","aml","apl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RARG","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9866","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9866","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P13631","url":"https://www.uniprot.org/uniprotkb/P13631/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172819","url":"https://platform.opentargets.org/target/ENSG00000172819/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.61, myeloproliferative neoplasm 0.61, leukaemia 0.61, acute promyelocytic leukaemia 0.60 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA RARG: RNA tissue enhanced (esophagus 138 nTPM, skin 1 115 nTPM); blood lineage group enriched (dendritic cells 7 nTPM, T-cells 19 nTPM); high antibody staining in 12 normal tissues; highest cancer staining pancreatic cancer (3 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute promyelocytic leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas RARG tissue","url":"https://www.proteinatlas.org/ENSG00000172819-RARG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000172819 associations","url":"https://platform.opentargets.org/target/ENSG00000172819/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9866","ensembl":"ENSG00000172819","uniprot":"P13631","entrez":"5916","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Krust et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"A third human retinoic acid receptor, hRAR-gamma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2546152/","biology":"Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence of ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. Required for limb bud development. In concert with RARA or RARB, required for skeletal growth, matrix homeostasis and growth plate function. Location: Nucleus; Cytoplasm (UniProt). Locus 12q13.13 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.61 with myeloproliferative neoplasm (MONDO_0020076)","Acute myeloid leukaemia: Open Targets association 0.61 with acute myeloid leukaemia (MONDO_0018874)","Acute promyelocytic leukaemia: Open Targets association 0.60 with acute promyelocytic leukaemia (MONDO_0012883)"],"targetClass":"transcription","prevalence":[]},{"id":"rasa1","kind":"target","name":"RASA1","aka":["RAS p21 protein activator 1","Ras GTPase-activating protein 1","CM-AVM","p120GAP","p120RASGAP","p120"],"tldr":"RASA1 (Ras GTPase-activating protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Head and neck squamous cell carcinoma, Colorectal cancer, Lung cancer and 4 more.","summary":"GTPase-activating protein (GAP) that stimulates the intrinsic GTPase activity of Ras proteins, such as NRAS, facilitating their transition from the active GTP-bound state to the inactive GDP-bound state, thereby terminating Ras signalling.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Trametinib. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.94, animal model 0.42, genetic association 0.28, somatic mutation 0.91). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Head and Neck Squamous Cell Carcinoma, Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9871","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9871"},{"label":"UniProt P20936","url":"https://www.uniprot.org/uniprotkb/P20936/entry"},{"label":"NCBI Gene 5921","url":"https://www.ncbi.nlm.nih.gov/gene/5921"},{"label":"Ensembl ENSG00000145715","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145715"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["head-and-neck","colorectal","lung-cancer","skin-cancer","gastric","nsclc","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RASA1","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9871","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9871","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P20936","url":"https://www.uniprot.org/uniprotkb/P20936/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RASA1","url":"https://civicdb.org/features/4791","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000145715","url":"https://platform.opentargets.org/target/ENSG00000145715/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: colorectal cancer 0.53, gastric cancer 0.51, skin cancer 0.52, basal cell carcinoma 0.52, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen RASA1","url":"https://www.intogen.org/search?gene=RASA1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RASA1: RNA tissue enhanced (placenta 91 nTPM); high antibody staining in 3 normal tissues. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma, Colorectal cancer, Lung cancer (all types), Skin cancer (all types), Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P20936","url":"https://www.uniprot.org/uniprotkb/P20936/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RASA1","url":"https://civicdb.org/features/4791","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Non-small Cell Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen RASA1","url":"https://www.intogen.org/search?gene=RASA1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RASA1 tissue","url":"https://www.proteinatlas.org/ENSG00000145715-RASA1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000145715 associations","url":"https://platform.opentargets.org/target/ENSG00000145715/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9871","ensembl":"ENSG00000145715","uniprot":"P20936","entrez":"5921","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Trahey et al, Science, 1988, \"Molecular cloning of two types of GAP complementary DNA from human placenta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3201259/","biology":"GTPase-activating protein (GAP) that stimulates the intrinsic GTPase activity of Ras proteins, such as NRAS, facilitating their transition from the active GTP-bound state to the inactive GDP-bound state, thereby terminating Ras signalling. Location: Cytoplasm (UniProt). Locus 5q14.3 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)","Non-small-cell lung cancer: CIViC evidence names this disease; IntOGen driver in 1 cohort (LUSC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rasa2","kind":"target","name":"RASA2","aka":["RAS p21 protein activator 2","Ras GTPase-activating protein 2","GAP1M"],"tldr":"RASA2 (Ras GTPase-activating protein 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Diffuse large B-cell lymphoma.","summary":"Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4).\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9872","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9872"},{"label":"UniProt Q15283","url":"https://www.uniprot.org/uniprotkb/Q15283/entry"},{"label":"NCBI Gene 5922","url":"https://www.ncbi.nlm.nih.gov/gene/5922"},{"label":"Ensembl ENSG00000155903","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000155903"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RASA2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9872","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9872","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15283","url":"https://www.uniprot.org/uniprotkb/Q15283/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RASA2","url":"https://www.intogen.org/search?gene=RASA2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9872","ensembl":"ENSG00000155903","uniprot":"Q15283","entrez":"5922","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kobayashi et al, Gene, 1996, \"Human rasGTPase-activating protein (human counterpart of GAP1m): sequence of the cDNA, primary structure of the protein, production and chromosomal localization\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8917095/","biology":"Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4). Location: Cytoplasm; Cytoplasm, perinuclear region (UniProt). Locus 3q23 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rassf6","kind":"target","name":"RASSF6","aka":["Ras association domain family member 6","Ras association domain-containing protein 6"],"tldr":"RASSF6 (Ras association domain-containing protein 6) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Involved in the induction of apoptosis, through both caspase-dependent and caspase-independent pathways. May act as a Ras effector protein. May suppress the serum-induced basal levels of NF-kappa-B.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20796","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20796"},{"label":"UniProt Q6ZTQ3","url":"https://www.uniprot.org/uniprotkb/Q6ZTQ3/entry"},{"label":"NCBI Gene 166824","url":"https://www.ncbi.nlm.nih.gov/gene/166824"},{"label":"Ensembl ENSG00000169435","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169435"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RASSF6","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:20796","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20796","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6ZTQ3","url":"https://www.uniprot.org/uniprotkb/Q6ZTQ3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000169435","url":"https://platform.opentargets.org/target/ENSG00000169435/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: prostate cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:20796","ensembl":"ENSG00000169435","uniprot":"Q6ZTQ3","entrez":"166824","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Burbee D.G. et al, 2003, \"RASSF6, a member of the RASSF family of putative tumor suppressors, is transcriptionally repressed in lung and breast cancers\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q6ZTQ3/entry","biology":"Involved in the induction of apoptosis, through both caspase-dependent and caspase-independent pathways. May act as a Ras effector protein. May suppress the serum-induced basal levels of NF-kappa-B. Locus 4q13.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.53 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"rb1","kind":"target","name":"RB1","aka":["RB transcriptional corepressor 1","Retinoblastoma-associated protein","PPP1R130"],"tldr":"RB1 (Retinoblastoma-associated protein) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Lung cancer, Neuroendocrine tumours and 5 more.","summary":"Tumour suppressor that is a key regulator of the G1/S transition of the cell cycle. The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes. Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription.\n\nCIViC holds 18 clinical evidence items and 0 assertions across 9 variants, naming Palbociclib, Fulvestrant, Gemcitabine and Olaparib and others. Open Targets scores its association with cancer at 0.93 (direct and indirect evidence; datatypes genetic literature 0.92, affected pathway 0.92, literature 1.00, genetic association 0.95, somatic mutation 0.98, animal model 0.68). IntOGen calls it a driver in 65 cohorts (1 activating, 61 loss-of-function), covering Adrenocortical Carcinoma, Bladder/Urinary Tract, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cervical Squamous Cell Carcinoma, Oesophageal Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9884","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884"},{"label":"UniProt P06400","url":"https://www.uniprot.org/uniprotkb/P06400/entry"},{"label":"NCBI Gene 5925","url":"https://www.ncbi.nlm.nih.gov/gene/5925"},{"label":"Ensembl ENSG00000139687","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139687"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","lung-cancer","neuroendocrine","sarcoma","hcc","breast-cancer","skin-cancer","esophageal","tnbc","sclc","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bladder-cancer-signalling","cancer-stem-cells-plasticity","cml-signalling","hepatocellular-carcinoma-signalling","lineage-plasticity-neuroendocrine","resistance-routes-map","sclc-signalling","p53-cell-cycle"],"terms":["histologic-transformation"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-breast-molecular-portraits-nature-2012","paper-herschkowitz-rb1-loss-basal-like-bcr-2008","paper-bareche-tnbc-multiomic-heterogeneity-ann-oncol-2018","paper-george-sclc-genomic-profiles-nature-2015","paper-lee-clonal-history-small-cell-transformation-jco-2017","paper-offin-rb1-tp53-transformation-risk-jto-2019","paper-abida-genomic-correlates-outcome-mcrpc-pnas-2019","paper-aparicio-aggressive-variant-prostate-tumour-suppressors-ccr-2016","paper-mateo-genomics-lethal-prostate-diagnosis-castration-resistance-jci-2020"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 16 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 61 cohorts; CIViC holds 18 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Urinary Bladder Cancer; Low-Grade Glioma, NOS.","Triple-negative breast cancer: RB1 mutation or loss in 20% of basal-like tumours (Cancer Genome Atlas 2012), loss of heterozygosity in 72% (Herschkowitz 2008); the reason CDK4/6 inhibition has no role in most TNBC and the LAR subtype, which keeps RB1, is the exception being tested.","Lung cancer: mutated in 72.5% of small-cell tumours on a mutation call and biallelically inactivated in nearly all of them once complex rearrangements are counted, with the two RB1 wild-type cases in the sequencing series reaching the same end through chromothripsis and cyclin D1 overexpression (George 2015). In adenocarcinoma it is 5 to 6%, and the cases that matter are those where it accompanies TP53 loss in an EGFR-mutant tumour: that combination carries a 43-fold risk of transformation to small-cell carcinoma (Lee 2017, Offin 2019)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RB1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9884","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9884","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P06400","url":"https://www.uniprot.org/uniprotkb/P06400/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RB1","url":"https://civicdb.org/features/4795","note":"18 evidence items, 0 assertions, 9 variants; diseases: Breast Cancer, Triple-negative Breast Cancer, Lung Non-small Cell Carcinoma, Glioblastoma, Oestrogen Receptor-positive Breast Cancer and 6 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000139687","url":"https://platform.opentargets.org/target/ENSG00000139687/associations","note":"association with cancer (MONDO_0004992) 0.93; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.70, small cell lung carcinoma 0.73, colorectal cancer 0.53, oesophageal cancer 0.55, hepatocellular carcinoma 0.63, prostate cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen RB1","url":"https://www.intogen.org/search?gene=RB1","note":"driver in 65 cohorts (Act 1, LoF 61); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RB1: RNA low tissue specificity; high antibody staining in 12 normal tissues; highest cancer staining breast cancer (2 of 10 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Lung cancer (all types), Neuroendocrine tumours, Sarcomas (soft tissue, bone, GIST), Hepatocellular carcinoma, Breast cancer (all types), Skin cancer (all types) and more); Open Targets associates it with 16 specific cancer types at or above 0.5 (retinoblastoma, hereditary retinoblastoma, urinary bladder cancer, urinary bladder carcinoma, small cell lung carcinoma, non-hereditary retinoblastoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P06400","url":"https://www.uniprot.org/uniprotkb/P06400/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RB1","url":"https://civicdb.org/features/4795","note":"18 evidence items, 0 assertions, 9 variants; diseases: Breast Cancer, Triple-negative Breast Cancer, Lung Non-small Cell Carcinoma, Glioblastoma, Oestrogen Receptor-positive Breast Cancer and 6 more (GraphQL API, CC0)"},{"label":"IntOGen RB1","url":"https://www.intogen.org/search?gene=RB1","note":"driver in 65 cohorts (Act 1, LoF 61); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RB1 tissue","url":"https://www.proteinatlas.org/ENSG00000139687-RB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139687 associations","url":"https://platform.opentargets.org/target/ENSG00000139687/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9884","ensembl":"ENSG00000139687","uniprot":"P06400","entrez":"5925","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee W.-H. et al, Nature, 1987, \"The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3657987/","biology":"Tumour suppressor that is a key regulator of the G1/S transition of the cell cycle. The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes. Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription. Cyclin and CDK-dependent phosphorylation of RB1 induces its dissociation from E2Fs, thereby activating transcription of E2F responsive genes and triggering entry into S phase. RB1 also promotes the G0-G1 transition upon phosphorylation and activation by CDK3/cyclin-C. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilising histone methylation. Location: Nucleus; Cytoplasm (UniProt). Locus 13q14.2 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.80 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 8 cohorts (BLADDER, BLCA)","Lung cancer: Open Targets association 0.80 with lung cancer (MONDO_0008903)","Neuroendocrine tumours: Open Targets association 0.79 with neuroendocrine neoplasm (MONDO_0019496)","Sarcomas: Open Targets association 0.78 with sarcoma (MONDO_0005089); IntOGen driver in 4 cohorts (LIPO, LMS, SOFT_TISSUE)","Hepatocellular carcinoma: Open Targets association 0.63 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 7 cohorts (HCC)","Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Triple-negative breast cancer: mutation or deletion (loss) 15-20%","Small-cell lung cancer: biallelic inactivation 73-100%","Prostate cancer: deep deletion, and inactivating mutation 3-23% depending on disease state"],"targetClass":"transcription","prevalence":[{"cancerId":"tnbc","pct":"15-20","measure":"Mutation or deletion (loss)","source":"https://doi.org/10.1038/nature11412","note":"RB1 mutation or loss in 20% of basal-like tumours (Cancer Genome Atlas 2012); RB1 loss of heterozygosity in 72% of basal-like tumours among 88 carcinomas, with low RB1 mRNA (Herschkowitz 2008); cBioPortal: deep deletion in 13 of 119, 10.9%, and mutation in 6 of 123, 4.9%, in brca_tcga_pan_can_atlas_2018; mutation in 18 of 299, 6.0%, and deep deletion in 8 of 320, 2.5%, in brca_metabric; mutation in 17 of 176, 9.7%, and deep deletion in 11 of 176, 6.2%, in breast_msk_2018. Copy-number deletion of RB1 marked the BL1 subtype (Bareche 2018)."},{"cancerId":"sclc","pct":"73-100","measure":"Biallelic inactivation","source":"https://www.cbioportal.org/study/summary?id=sclc_ucologne_2015","note":"cBioPortal: 87 of 120, 72.5%, carry a non-synonymous RB1 mutation in sclc_ucologne_2015, against 34 of 566, 6.0%, in lung adenocarcinoma. Biallelic inactivation was found in nearly all of the 110 sequenced genomes, and the two tumours with wild-type RB1 showed chromothripsis leading to cyclin D1 overexpression, an alternative route to the same deregulation (George 2015)."},{"cancerId":"prostate","pct":"3-23","measure":"Deep deletion, and inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pan_can_atlas_2018","note":"cBioPortal deep deletion: 46 of 489, 9.4%, in prad_tcga_pan_can_atlas_2018; 41 of 1,013, 4.0%, in prad_p1000; 13 of 424, 3.1%, in prad_mcspc_mskcc_2020; 76 of 2,260, 3.4%, in prostate_msk_2024; 43 of 444, 9.7%, in prad_su2c_2019; 29 of 149, 19.5%, in prad_fhcrc; 14 of 61, 23.0%, in prad_mich. Mutation adds 1.5 to 10% (16 of 444, 3.6%, in prad_su2c_2019; 8 of 114, 7.0%, in nepc_wcm_2016)."}]},{"id":"rbbp7","kind":"target","name":"RBBP7","aka":["RB binding protein 7, chromatin remodeling factor","Histone-binding protein RBBP7","RbAp46"],"tldr":"RBBP7 (Histone-binding protein RBBP7) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; and the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.92, affected pathway 0.76, genetic association 0.24).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9890","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9890"},{"label":"UniProt Q16576","url":"https://www.uniprot.org/uniprotkb/Q16576/entry"},{"label":"NCBI Gene 5931","url":"https://www.ncbi.nlm.nih.gov/gene/5931"},{"label":"Ensembl ENSG00000102054","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102054"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RBBP7","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9890","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9890","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16576","url":"https://www.uniprot.org/uniprotkb/Q16576/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000102054","url":"https://platform.opentargets.org/target/ENSG00000102054/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9890","ensembl":"ENSG00000102054","uniprot":"Q16576","entrez":"5931","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nielsen M.S. et al, 1993.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q16576/entry","biology":"Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; and the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex. Location: Nucleus (UniProt). Locus Xp22.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"rbbp8","kind":"target","name":"RBBP8","aka":["RB binding protein 8, endonuclease","DNA endonuclease RBBP8","CtIP","COM1","SCKL2"],"tldr":"RBBP8 (DNA endonuclease RBBP8) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ).\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.87, genetic association 0.49, somatic mutation 0.55).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9891","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9891"},{"label":"UniProt Q99708","url":"https://www.uniprot.org/uniprotkb/Q99708/entry"},{"label":"NCBI Gene 5932","url":"https://www.ncbi.nlm.nih.gov/gene/5932"},{"label":"Ensembl ENSG00000101773","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101773"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RBBP8","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9891","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9891","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99708","url":"https://www.uniprot.org/uniprotkb/Q99708/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000101773","url":"https://platform.opentargets.org/target/ENSG00000101773/associations","note":"association with cancer (MONDO_0004992) 0.66;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9891","ensembl":"ENSG00000101773","uniprot":"Q99708","entrez":"5932","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fusco et al, Genomics, 1998, \"Molecular cloning and characterization of a novel retinoblastoma-binding protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9721205/","biology":"Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway. HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse. Key determinant of DSB repair pathway choice, as it commits cells to HR by preventing classical non-homologous end-joining (NHEJ). Specifically promotes the endonuclease activity of the MRN complex to clear DNA ends containing protein adducts: recruited to DSBs by NBN following phosphorylation by CDK1, and promotes the endonuclease activity of MRE11 to clear protein-DNA adducts and generate clean double-strand break ends. Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage. Location: Nucleus; Chromosome (UniProt). Locus 18q11.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"rbfox1","kind":"target","name":"RBFOX1","aka":["RNA binding fox-1 homolog 1","RNA binding protein fox-1 homolog 1","A2BP1","FOX-1","HRNBP1"],"tldr":"RBFOX1 (RNA binding protein fox-1 homolog 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer.","summary":"RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.83, animal model 0.32, genetic association 0.66, somatic mutation 0.25). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18222","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18222"},{"label":"UniProt Q9NWB1","url":"https://www.uniprot.org/uniprotkb/Q9NWB1/entry"},{"label":"NCBI Gene 54715","url":"https://www.ncbi.nlm.nih.gov/gene/54715"},{"label":"Ensembl ENSG00000078328","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000078328"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RBFOX1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18222","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18222","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NWB1","url":"https://www.uniprot.org/uniprotkb/Q9NWB1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000078328","url":"https://platform.opentargets.org/target/ENSG00000078328/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"},{"label":"IntOGen RBFOX1","url":"https://www.intogen.org/search?gene=RBFOX1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18222","ensembl":"ENSG00000078328","uniprot":"Q9NWB1","entrez":"54715","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen et al, 1998, \"Molecular cloning and chromosomal localization of a human brain, heart and skeletal muscle specific RNA binding protein gene homologous to fox-1 in Caenorhabditis elegans\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9NWB1/entry","biology":"RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis. Location: Nucleus; Cytoplasm (UniProt). Locus 16p13.3 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rbm10","kind":"target","name":"RBM10","aka":["RNA binding motif protein 10","Ribosome biogenesis inhibitor MINAS-60","DXS8237E","KIAA0122","GPATC9","ZRANB5","GPATCH9","S1-1"],"tldr":"RBM10 (Ribosome biogenesis inhibitor MINAS-60) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Lung cancer, Pancreatic ductal adenocarcinoma, Colorectal cancer and 4 more.","summary":"Acts as a late-stage inhibitor of pre-60S ribosome assembly by preventing pre-60S ribosome export from nucleus.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes literature 0.98, animal model 0.43, genetic association 0.00, somatic mutation 0.97). IntOGen calls it a driver in 16 cohorts (1 activating, 15 loss-of-function), covering Bladder Urothelial Carcinoma, Cholangiocarcinoma, Colorectal Adenocarcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer, Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9896","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9896"},{"label":"UniProt P0DW28","url":"https://www.uniprot.org/uniprotkb/P0DW28/entry"},{"label":"NCBI Gene 8241","url":"https://www.ncbi.nlm.nih.gov/gene/8241"},{"label":"Ensembl ENSG00000182872","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182872"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","pancreatic","colorectal","urothelial","biliary-tract-cancer","nsclc","cholangiocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-lung-adenocarcinoma-nature-2014"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 15 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lung cancer: inactivated in 7 to 11% of adenocarcinomas and 1.2% of squamous tumours (cBioPortal). It is an X-linked splicing regulator, so one hit suffices in men, and it is one of the two sex-linked findings of the TCGA adenocarcinoma analysis, more common in men where EGFR mutation is more common in women (Cancer Genome Atlas Research Network 2014)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RBM10","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9896","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9896","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0DW28","url":"https://www.uniprot.org/uniprotkb/P0DW28/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182872","url":"https://platform.opentargets.org/target/ENSG00000182872/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.69, colorectal cancer 0.60, urinary bladder cancer 0.59, lung cancer 0.69, biliary tract cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen RBM10","url":"https://www.intogen.org/search?gene=RBM10","note":"driver in 16 cohorts (Act 1, LoF 15); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9896","ensembl":"ENSG00000182872","uniprot":"P0DW28","entrez":"8241","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Acts as a late-stage inhibitor of pre-60S ribosome assembly by preventing pre-60S ribosome export from nucleus. Location: Nucleus, nucleolus (UniProt). Locus Xp11.3 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.69 with lung cancer (MONDO_0008903)","Pancreatic ductal adenocarcinoma: IntOGen driver in 4 cohorts (PAAD)","Colorectal cancer: Open Targets association 0.60 with colorectal cancer (MONDO_0005575); IntOGen driver in 2 cohorts (COADREAD)","Bladder & urothelial cancer: Open Targets association 0.59 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 2 cohorts (BLCA)","Biliary tract cancer: Open Targets association 0.58 with biliary tract cancer (MONDO_0003060)","Non-small-cell lung cancer: Open Targets association 0.69 with non-small cell lung carcinoma (MONDO_0005233); IntOGen driver in 7 cohorts (LUAD, NSCLC)","Non-small-cell lung cancer: inactivating mutation (splicing regulator) 7-11%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"nsclc","pct":"7-11","measure":"Inactivating mutation (splicing regulator)","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal: 294 of 2,653, 11.1%, in luad_mskcc_2023_met_organotropism; 78 of 915, 8.5%, in lung_msk_2017; 38 of 566, 6.7%, in luad_tcga_pan_can_atlas_2018; 19 of 230, 8.3%, in luad_tcga_pub; 22 of 302, 7.3%, in luad_oncosg_2020; 17 of 232, 7.3%, in lung_nci_2022; 6 of 484, 1.2%, in lusc_tcga_pan_can_atlas_2018."}]},{"id":"rbm15","kind":"target","name":"RBM15","aka":["RNA binding motif protein 15","RNA-binding protein 15","OTT1"],"tldr":"RBM15 (RNA-binding protein 15) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as haematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA. Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14959","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959"},{"label":"UniProt Q96T37","url":"https://www.uniprot.org/uniprotkb/Q96T37/entry"},{"label":"NCBI Gene 64783","url":"https://www.ncbi.nlm.nih.gov/gene/64783"},{"label":"Ensembl ENSG00000162775","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162775"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RBM15","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14959","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14959","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96T37","url":"https://www.uniprot.org/uniprotkb/Q96T37/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RBM15","url":"https://www.intogen.org/search?gene=RBM15","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14959","ensembl":"ENSG00000162775","uniprot":"Q96T37","entrez":"64783","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ma et al, Nat. Genet, 2001, \"Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11431691/","biology":"RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as haematopoietic cell homeostasis, alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA. Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing. Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex. Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist. Required for the development of multiple tissues, such as the maintenance of the homeostasis of long-term haematopoietic stem cells and for megakaryocyte (MK) and B-cell differentiation. Regulates megakaryocyte differentiation by regulating alternative splicing of genes important for megakaryocyte differentiation; probably regulates alternative splicing via m6A regulation. Location: Nucleus speckle; Nucleus, nucleoplasm; Nucleus envelope; Nucleus membrane (UniProt). Locus 1p13.3 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rbm38","kind":"target","name":"RBM38","aka":["RNA binding motif protein 38","RNA-binding protein 38","HSRNASEB","SEB4D","seb4B","dJ800J21.2","RNPC1"],"tldr":"RBM38 (RNA-binding protein 38) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Diffuse large B-cell lymphoma.","summary":"RNA-binding protein that specifically bind the 3'-UTR of CDKN1A transcripts, leading to maintain the stability of CDKN1A transcripts, thereby acting as a mediator of the p53/TP53 family to regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitor transcriptionally regulated by the p53/TP53 family to induce cell cycle arrest. Isoform 1, but not isoform 2, has the ability to induce cell cycle arrest in G1 and maintain the stability of CDKN1A transcripts induced by p53/TP53.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15818","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15818"},{"label":"UniProt Q9H0Z9","url":"https://www.uniprot.org/uniprotkb/Q9H0Z9/entry"},{"label":"NCBI Gene 55544","url":"https://www.ncbi.nlm.nih.gov/gene/55544"},{"label":"Ensembl ENSG00000132819","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132819"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RBM38","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:15818","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15818","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H0Z9","url":"https://www.uniprot.org/uniprotkb/Q9H0Z9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RBM38","url":"https://www.intogen.org/search?gene=RBM38","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:15818","ensembl":"ENSG00000132819","uniprot":"Q9H0Z9","entrez":"55544","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ruehlmann et al, 1993, \"A novel murine RRM-type protein and its human homolog\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9H0Z9/entry","biology":"RNA-binding protein that specifically bind the 3'-UTR of CDKN1A transcripts, leading to maintain the stability of CDKN1A transcripts, thereby acting as a mediator of the p53/TP53 family to regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitor transcriptionally regulated by the p53/TP53 family to induce cell cycle arrest. Isoform 1, but not isoform 2, has the ability to induce cell cycle arrest in G1 and maintain the stability of CDKN1A transcripts induced by p53/TP53. Also acts as a mRNA splicing factor. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Plays a role in myogenic differentiation. Location: Cytoplasm, cytosol; Nucleus (UniProt). Locus 20q13.31 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rbm39","kind":"target","name":"RBM39","aka":["RNA binding motif protein 39","RNA-binding protein 39","CC1.3","HCC1","CAPER","fSAP59","CAPERalpha","RNPC2"],"tldr":"RBM39 (RNA-binding protein 39) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Endometrial cancer.","summary":"RNA-binding protein that acts as a pre-mRNA splicing factor. Acts by promoting exon inclusion via regulation of exon cassette splicing. Also acts as a transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1, independently of the pre-mRNA splicing factor activity.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15923","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15923"},{"label":"UniProt Q14498","url":"https://www.uniprot.org/uniprotkb/Q14498/entry"},{"label":"NCBI Gene 9584","url":"https://www.ncbi.nlm.nih.gov/gene/9584"},{"label":"Ensembl ENSG00000131051","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000131051"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RBM39","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:15923","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15923","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14498","url":"https://www.uniprot.org/uniprotkb/Q14498/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RBM39","url":"https://www.intogen.org/search?gene=RBM39","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:15923","ensembl":"ENSG00000131051","uniprot":"Q14498","entrez":"9584","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Imai et al, J. Clin. Invest, 1993, \"Novel nuclear autoantigen with splicing factor motifs identified with antibody from hepatocellular carcinoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8227358/","biology":"RNA-binding protein that acts as a pre-mRNA splicing factor. Acts by promoting exon inclusion via regulation of exon cassette splicing. Also acts as a transcriptional coactivator for steroid nuclear receptors ESR1/ER-alpha and ESR2/ER-beta, and JUN/AP-1, independently of the pre-mRNA splicing factor activity. Location: Nucleus speckle (UniProt). Locus 20q11.22 (HGNC).","whereFound":["Endometrial cancer: IntOGen driver in 1 cohort (UCEC)"],"targetClass":"oncogene","prevalence":[]},{"id":"rbpj","kind":"target","name":"RBPJ","aka":["recombination signal binding protein for immunoglobulin kappa J region","Recombining binding protein suppressor of hairless","IGKJRB","RBPJK","KBF2","RBP-J","CBF1","IGKJRB1","RBPSUH"],"tldr":"RBPJ (Recombining binding protein suppressor of hairless) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transcriptional regulator that plays a central role in Notch signalling, a signalling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.95, animal model 0.35, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5724","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5724"},{"label":"UniProt Q06330","url":"https://www.uniprot.org/uniprotkb/Q06330/entry"},{"label":"NCBI Gene 3516","url":"https://www.ncbi.nlm.nih.gov/gene/3516"},{"label":"Ensembl ENSG00000168214","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168214"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["notch"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RBPJ","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5724","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5724","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06330","url":"https://www.uniprot.org/uniprotkb/Q06330/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000168214","url":"https://platform.opentargets.org/target/ENSG00000168214/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5724","ensembl":"ENSG00000168214","uniprot":"Q06330","entrez":"3516","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Amakawa et al, Genomics, 1993, \"Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8406481/","biology":"Transcriptional regulator that plays a central role in Notch signalling, a signalling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins, respectively. Specifically binds to the immunoglobulin kappa-type J segment recombination signal sequence. Binds specifically to methylated DNA. Location: Nucleus; Cytoplasm (UniProt). Locus 4p15.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"rbx1","kind":"target","name":"RBX1","aka":["ring-box 1","E3 ubiquitin-protein ligase RBX1","ROC1","RNF75","BA554C12.1"],"tldr":"RBX1 (E3 ubiquitin-protein ligase RBX1) is an enzyme. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma, Myelodysplastic syndromes / neoplasms and 2 more.","summary":"E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair. CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets. The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.83, genetic association 0.03, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9928","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9928"},{"label":"UniProt P62877","url":"https://www.uniprot.org/uniprotkb/P62877/entry"},{"label":"NCBI Gene 9978","url":"https://www.ncbi.nlm.nih.gov/gene/9978"},{"label":"Ensembl ENSG00000100387","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100387"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mds","follicular-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RBX1","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:9928","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9928","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62877","url":"https://www.uniprot.org/uniprotkb/P62877/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100387","url":"https://platform.opentargets.org/target/ENSG00000100387/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: plasma cell myeloma 0.62, non-Hodgkin lymphoma 0.59, myelodysplastic syndrome 0.56, follicular lymphoma 0.57, mantle cell lymphoma 0.55 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists RBX1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RBX1: RNA low tissue specificity; no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma, Myeloid neoplasms); Open Targets associates it with 4 specific cancer types at or above 0.5 (plasma cell myeloma, follicular lymphoma, myelodysplastic syndrome, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RBX1 tissue","url":"https://www.proteinatlas.org/ENSG00000100387-RBX1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100387 associations","url":"https://platform.opentargets.org/target/ENSG00000100387/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9928","ensembl":"ENSG00000100387","uniprot":"P62877","entrez":"9978","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohta et al, Mol. Cell, 1999, \"ROC1, a homolog of APC11, represents a family of cullin partners with an associated ubiquitin ligase activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10230407/","biology":"E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair. CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets. The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components. As a component of the CSA complex mediates ubiquitination of Pol II subunit POLR2A at 'Lys-1268', a critical TC-NER checkpoint. Core component of the Cul7-RING(FBXW8) ubiquitin ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Core component of a Cul9-RING ubiquitin ligase complex composed of CUL9 and RBX1, which mediates mono-ubiquitination of p53/TP53. Location: Cytoplasm; Nucleus (UniProt). Locus 22q13.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.62 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.56 with myelodysplastic syndrome (MONDO_0018881)","Follicular lymphoma: Open Targets association 0.57 with follicular lymphoma (MONDO_0018906)","Mantle cell lymphoma: Open Targets association 0.55 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"enzyme","prevalence":[]},{"id":"rcc2","kind":"target","name":"RCC2","aka":["regulator of chromosome condensation 2","TD-60"],"tldr":"RCC2 (regulator of chromosome condensation 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Multifunctional protein that may affect its functions by regulating the activity of small GTPases, such as RAC1 and RALA. Required for normal progress through the cell cycle, both during interphase and during mitosis. Required for the presence of normal levels of MAD2L1, AURKB and BIRC5 on inner centromeres during mitosis, and for normal attachment of kinetochores to mitotic spindles.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.94, animal model 0.28, genetic association 0.63, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30297","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30297"},{"label":"UniProt Q9P258","url":"https://www.uniprot.org/uniprotkb/Q9P258/entry"},{"label":"NCBI Gene 55920","url":"https://www.ncbi.nlm.nih.gov/gene/55920"},{"label":"Ensembl ENSG00000179051","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000179051"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RCC2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:30297","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30297","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9P258","url":"https://www.uniprot.org/uniprotkb/Q9P258/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000179051","url":"https://platform.opentargets.org/target/ENSG00000179051/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:30297","ensembl":"ENSG00000179051","uniprot":"Q9P258","entrez":"55920","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10819331/","biology":"Multifunctional protein that may affect its functions by regulating the activity of small GTPases, such as RAC1 and RALA. Required for normal progress through the cell cycle, both during interphase and during mitosis. Required for the presence of normal levels of MAD2L1, AURKB and BIRC5 on inner centromeres during mitosis, and for normal attachment of kinetochores to mitotic spindles. Required for normal organisation of the microtubule cytoskeleton in interphase cells. Functions as guanine nucleotide exchange factor (GEF) for RALA. Interferes with the activation of RAC1 by guanine nucleotide exchange factors. Location: Nucleus, nucleolus; Nucleus; Cytoplasm, cytoskeleton; Chromosome, centromere (UniProt). Locus 1p36.13 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"recql4","kind":"target","name":"RECQL4","aka":["RecQ like helicase 4","ATP-dependent DNA helicase Q4","RecQ4"],"tldr":"RECQL4 (ATP-dependent DNA helicase Q4) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas, Gastric & gastro-oesophageal junction cancer, Breast cancer and 5 more.","summary":"An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction. Does not unwind more than 18 bp of dsDNA. May modulate chromosome segregation.\n\nOpen Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.76, literature 0.98, genetic association 0.86, somatic mutation 0.84, animal model 0.47). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9949","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949"},{"label":"UniProt O94761","url":"https://www.uniprot.org/uniprotkb/O94761/entry"},{"label":"NCBI Gene 9401","url":"https://www.ncbi.nlm.nih.gov/gene/9401"},{"label":"Ensembl ENSG00000160957","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160957"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["sarcoma","gastric","breast-cancer","colorectal","lung-cancer","ovarian","skin-cancer","osteosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RECQL4","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9949","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9949","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O94761","url":"https://www.uniprot.org/uniprotkb/O94761/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000160957","url":"https://platform.opentargets.org/target/ENSG00000160957/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: colorectal cancer 0.54, gastric cancer 0.56, ovarian cancer 0.52, sarcoma 0.61, skin cancer 0.52, osteosarcoma 0.58 (GraphQL API, CC0)"},{"label":"IntOGen RECQL4","url":"https://www.intogen.org/search?gene=RECQL4","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9949","ensembl":"ENSG00000160957","uniprot":"O94761","entrez":"9401","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kitao et al, Genomics, 1998, \"Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9878247/","biology":"An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction. Does not unwind more than 18 bp of dsDNA. May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA. The core helicase domain binds ssDNA. Location: Cytoplasm; Nucleus (UniProt). Locus 8q24.3 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.61 with sarcoma (MONDO_0005089)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.56 with gastric cancer (MONDO_0001056); IntOGen driver in 1 cohort (STAD)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Ovarian cancer: Open Targets association 0.52 with ovarian cancer (MONDO_0008170)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rel","kind":"target","name":"REL","aka":["REL proto-oncogene, NF-kB subunit","Proto-oncogene c-Rel","I-Rel","c-Rel","HIVEN86A"],"tldr":"REL (Proto-oncogene c-Rel) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer and Diffuse large B-cell lymphoma.","summary":"Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.80, animal model 0.51, genetic association 0.00, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9954","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9954"},{"label":"UniProt Q04864","url":"https://www.uniprot.org/uniprotkb/Q04864/entry"},{"label":"NCBI Gene 5966","url":"https://www.ncbi.nlm.nih.gov/gene/5966"},{"label":"Ensembl ENSG00000162924","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162924"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["ovarian","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"REL","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:9954","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9954","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q04864","url":"https://www.uniprot.org/uniprotkb/Q04864/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene REL","url":"https://civicdb.org/features/57","note":"1 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000162924","url":"https://platform.opentargets.org/target/ENSG00000162924/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: ovarian cancer 0.50 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA REL: RNA tissue enhanced (bone marrow 35 nTPM); no normal tissue stained high; highest cancer staining skin cancer (7 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas REL tissue","url":"https://www.proteinatlas.org/ENSG00000162924-REL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162924 associations","url":"https://platform.opentargets.org/target/ENSG00000162924/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9954","ensembl":"ENSG00000162924","uniprot":"Q04864","entrez":"5966","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Brownell et al, Mol. Cell. Biol, 1985, \"Genetic characterization of human c-rel sequences\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3016517/","biology":"Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalisation as well as by interactions with other cofactors or corepressors. Location: Nucleus (UniProt). Locus 2p16.1 (HGNC).","whereFound":["Ovarian cancer: Open Targets association 0.50 with ovarian cancer (MONDO_0008170)","Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"rela","kind":"target","name":"RELA","aka":["RELA proto-oncogene, NF-kB subunit","Transcription factor p65","p65","NFKB3"],"tldr":"RELA (Transcription factor p65) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The heterodimeric RELA-NFKB1 complex appears to be most abundant one.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9955","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9955"},{"label":"UniProt Q04206","url":"https://www.uniprot.org/uniprotkb/Q04206/entry"},{"label":"NCBI Gene 5970","url":"https://www.ncbi.nlm.nih.gov/gene/5970"},{"label":"Ensembl ENSG00000173039","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173039"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RELA","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9955","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9955","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q04206","url":"https://www.uniprot.org/uniprotkb/Q04206/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RELA","url":"https://www.intogen.org/search?gene=RELA","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9955","ensembl":"ENSG00000173039","uniprot":"Q04206","entrez":"5970","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ruben S.M. et al, Science, 1991, \"Isolation of a rel-related human cDNA that potentially encodes the 65-kD subunit of NF-kappa B\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2006423/","biology":"NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The heterodimeric RELA-NFKB1 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. The NF-kappa-B heterodimeric RELA-NFKB1 and RELA-REL complexes, for instance, function as transcriptional activators. Location: Nucleus; Cytoplasm (UniProt). Locus 11q13.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rest","kind":"target","name":"REST","aka":["RE1 silencing transcription factor","RE1-silencing transcription factor","DFNA27"],"tldr":"REST (RE1-silencing transcription factor) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Wilms tumour.","summary":"Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells. Restricts the expression of neuronal genes by associating with two distinct corepressors, SIN3A and RCOR1, which in turn recruit histone deacetylase to the promoters of REST-regulated genes. Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.70, somatic mutation 0.47, genetic literature 0.58). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Wilms' Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9966","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9966"},{"label":"UniProt Q13127","url":"https://www.uniprot.org/uniprotkb/Q13127/entry"},{"label":"NCBI Gene 5978","url":"https://www.ncbi.nlm.nih.gov/gene/5978"},{"label":"Ensembl ENSG00000084093","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000084093"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["wilms-tumor"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"REST","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9966","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9966","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13127","url":"https://www.uniprot.org/uniprotkb/Q13127/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000084093","url":"https://platform.opentargets.org/target/ENSG00000084093/associations","note":"association with cancer (MONDO_0004992) 0.63;  (GraphQL API, CC0)"},{"label":"IntOGen REST","url":"https://www.intogen.org/search?gene=REST","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9966","ensembl":"ENSG00000084093","uniprot":"Q13127","entrez":"5978","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chong J.A. et al, Cell, 1995, \"REST: a mammalian silencer protein that restricts sodium channel gene expression to neurons\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7697725/","biology":"Transcriptional repressor which binds neuron-restrictive silencer element (NRSE) and represses neuronal gene transcription in non-neuronal cells. Restricts the expression of neuronal genes by associating with two distinct corepressors, SIN3A and RCOR1, which in turn recruit histone deacetylase to the promoters of REST-regulated genes. Mediates repression by recruiting the BHC complex at RE1/NRSE sites which acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. Transcriptional repression by REST-CDYL via the recruitment of histone methyltransferase EHMT2 may be important in transformation suppression. Represses the expression of SRRM4 in non-neural cells to prevent the activation of neural-specific splicing events and to prevent production of REST isoform 3. Repressor activity may be inhibited by forming heterodimers with isoform 3, thereby preventing binding to NRSE or binding to corepressors and leading to derepression of target genes. Location: Nucleus; Cytoplasm (UniProt). Locus 4q12 (HGNC).","whereFound":["Wilms tumour: IntOGen driver in 1 cohort (WT)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ret","kind":"target","name":"RET","aka":[],"tldr":"RET is a kinase altered in thyroid cancer and a small slice of lung cancer, treatable with one selective pill regardless of where the tumour is.","summary":"RET is the receptor tyrosine kinase for GDNF-family ligands, and cancers can switch it on either through gene fusions or point mutations. RET fusions occur in about 1 to 2 percent of NSCLC and in roughly 10 to 20 percent of papillary thyroid cancers, while RET mutations drive around 60 to 70 percent of medullary thyroid cancers. The selective inhibitors selpercatinib and pralsetinib produce responses in all of these settings, and selpercatinib holds a tumour-agnostic approval for RET-fusion solid tumours, with expanded labels in 2026. Selective inhibitors largely replaced older multikinase drugs such as vandetanib and cabozantinib because they are better tolerated. Acquired resistance through solvent-front mutations and the role of next-generation inhibitors are the open questions. For a newcomer: RET is a kinase treatable with one selective pill wherever the tumour is.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/RET_proto-oncogene","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/RET_proto-oncogene"}],"tags":["driver","kinase"],"related":["ret-fusion"],"cancers":["thyroid","nsclc","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["guardant360-cdx","oncomine-dx-target-test","al2846","ep0031"],"companies":["imagene-ai","lucence"],"institutions":[],"pathways":["ras-mapk","nsclc-signalling","thyroid-cancer-signalling"],"terms":["gene-fusion","tumour-agnostic"],"trials":["nct06147570"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Colorectal cancer: RET fusions (NCOA4-RET, CCDC6-RET) in about 0.1% of tumours (cBioPortal), again clustered in the wild-type, mismatch repair deficient, right-sided corner. Selpercatinib's approval for RET fusion-positive solid tumours is tumour-agnostic; the colorectal evidence is a handful of patients.","Lung cancer: rearranged in 1 to 2% of adenocarcinomas, with KIF5B the dominant partner and CCDC6 second (cBioPortal), the reverse of thyroid cancer. Like the other fusions it needs an assay that reads rearrangements rather than exons."],"symbol":"RET","role":[],"sources":[],"specificity":"tumour-specific","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (RET fusion and RET mutation) absent from normal cells. HPA RET: RNA tissue enhanced (adrenal gland 11 nTPM, parathyroid gland 19 nTPM); high antibody staining in 2 normal tissues; highest cancer staining melanoma (6 of 8 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Thyroid cancer, Lung cancer (all types)); Open Targets associates it with 17 specific cancer types at or above 0.5 (multiple endocrine neoplasia type 2A, medullary thyroid gland carcinoma, multiple endocrine neoplasia type 2B, pheochromocytoma, multiple endocrine neoplasia type 2, familial medullary thyroid carcinoma and more). Tissue-agnostic: Selpercatinib US 2022: \"RET-fusion solid tumours (tumour-agnostic)\". (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"RET fusion and RET mutation label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=16edd46e-28b8-f06d-e063-6394a90ae31b","note":"RET fusion-positive"},{"label":"Human Protein Atlas RET tissue","url":"https://www.proteinatlas.org/ENSG00000165731-RET/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000165731 associations","url":"https://platform.opentargets.org/target/ENSG00000165731/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9967","ensembl":"ENSG00000165731","uniprot":"P07949","entrez":"5979","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takahashi et al, Mol. Cell. Biol, 1987, \"ret transforming gene encodes a fusion protein homologous to tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3037315/","biology":"RET is the receptor tyrosine kinase for GDNF-family ligands.","whereFound":["Medullary thyroid cancer","Papillary thyroid cancer","NSCLC","Colorectal cancer: gene fusion (ncoa4-ret, ccdc6-ret) 0.1%","Non-small-cell lung cancer: rearrangement, commonly kif5b-ret or ccdc6-ret 1-2%"],"targetClass":"kinase","prevalence":[{"cancerId":"thyroid","pct":"60-70","measure":"RET mutation in medullary thyroid cancer","source":"https://en.wikipedia.org/wiki/RET_proto-oncogene","note":"~10-20% RET fusions in papillary"},{"cancerId":"nsclc","pct":"1-2","measure":"Fusion","source":"https://www.cbioportal.org/study/summary?id=luad_tcga_pan_can_atlas_2018"},{"cancerId":"colorectal","pct":"0.1","measure":"Gene fusion (NCOA4-RET, CCDC6-RET)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal structural variants: 8 of 7,237, 0.11% (NCOA4-RET 4), in crc_msk_2026; 1 of 1,134 in crc_msk_2017; CCDC6-RET in 1 of 594 in coadread_tcga_pan_can_atlas_2018; 1 of 1,516 in crc_eo_2020."},{"cancerId":"nsclc","pct":"1-2","measure":"Rearrangement, commonly KIF5B-RET or CCDC6-RET","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal structural variants: 51 of 2,422, 2.1%, in luad_mskcc_2023_met_organotropism (KIF5B in 36 events, CCDC6 in 4); 38 of 2,621, 1.4%, in nsclc_ctdx_msk_2022; 16 of 915, 1.7%, in lung_msk_2017; 3 of 232, 1.3%, in lung_nci_2022."}]},{"id":"rara","kind":"target","name":"Retinoic acid receptor alpha (RARA)","aka":[],"tldr":"The retinoic acid receptor that, fused to PML in acute promyelocytic leukaemia, blocks white blood cells from maturing. All-trans retinoic acid releases the block and arsenic trioxide destroys the fusion protein, turning a once rapidly fatal leukaemia into one of the most curable.","summary":"RARA is a nuclear receptor that switches on genes of myeloid differentiation when bound by retinoic acid. In acute promyelocytic leukaemia the t(15;17) translocation fuses PML to RARA, and the fusion protein recruits co-repressors that lock promyelocytes in an immature state. Pharmacological doses of all-trans retinoic acid (tretinoin) release the co-repressors and force differentiation, while arsenic trioxide binds the PML moiety and triggers degradation of the fusion protein. Given together, without chemotherapy in standard-risk disease, they cure most patients; differentiation syndrome is the characteristic early complication.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Retinoic_acid_receptor_alpha","links":[{"label":"UniProt P10276: RARA","url":"https://www.uniprot.org/uniprotkb/P10276/entry"}],"tags":[],"related":[],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":["tretinoin-atra","arsenic-trioxide"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"RARA","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 4 medicines aimed at it (Tretinoin (all-trans retinoic acid, ATRA), Arsenic trioxide, Acitretin and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA RARA: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 2 specific cancer types at or above 0.5 (acute promyelocytic leukemia, acute myeloid leukemia); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RARA tissue","url":"https://www.proteinatlas.org/ENSG00000131759-RARA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000131759 associations","url":"https://platform.opentargets.org/target/ENSG00000131759/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9864","ensembl":"ENSG00000131759","uniprot":"P10276","entrez":"5914","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Giguere et al, Nature, 1987, \"Identification of a receptor for the morphogen retinoic acid\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2825036/","biology":"Ligand-activated nuclear receptor of myeloid differentiation; the PML::RARA fusion in APL is the drug target of tretinoin and arsenic trioxide.","whereFound":["Acute promyelocytic leukaemia (PML::RARA fusion in almost all cases)"],"targetClass":"nuclear-receptor","prevalence":[{"cancerId":"aml","pct":"about 10","measure":"PML::RARA fusion (acute promyelocytic leukaemia subtype)","source":"https://doi.org/10.1038/nrc2943","note":"PML::RARA is present in nearly all cases of acute promyelocytic leukaemia"}]},{"id":"rxr","kind":"target","name":"Retinoid X receptor (RXR)","aka":[],"tldr":"The retinoid X receptor is a switch inside cells that vitamin A-like molecules turn on to change which genes are active; bexarotene uses it to make lymphoma cells in the skin mature and die.","summary":"RXR alpha, beta and gamma are nuclear receptors that form heterodimers with retinoic acid receptors, the vitamin D receptor, thyroid hormone receptor, PPARs and LXR, so a single RXR ligand can alter several transcriptional programmes at once. Bexarotene, a selective RXR agonist (rexinoid), is approved for cutaneous T-cell lymphoma; its metabolic side effects (central hypothyroidism, hypertriglyceridaemia) follow directly from RXR partner activation. The related retinoic acid receptor is the target of all-trans retinoic acid in acute promyelocytic leukaemia.","asOf":"2026-09-10","wikipedia":"https://en.wikipedia.org/wiki/Retinoid_X_receptor","links":[{"label":"NCBI Gene RXRA","url":"https://www.ncbi.nlm.nih.gov/gene/6256"}],"tags":["nuclear-receptor"],"related":[],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["acitretin","bexarotene","isotretinoin"],"companies":[],"institutions":[],"pathways":["aml-signalling","sclc-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not applicable: RXR alpha, beta and gamma are broadly expressed nuclear receptors, bexarotene is not selected on RXR expression, and no cancer is linked to this target, so no expression rate by cancer is recorded."],"symbol":"RXRA, RXRB, RXRG","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 3 medicines aimed at it (Acitretin, Bexarotene, Isotretinoin) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA RXRA: RNA low tissue specificity; blood lineage group enriched (granulocytes 20 nTPM, monocytes 13 nTPM); high antibody staining in 32 normal tissues; highest cancer staining lung cancer (12 of 12 high). HPA RXRB: RNA low tissue specificity; high antibody staining in 32 normal tissues; highest cancer staining breast cancer (11 of 11 high). HPA RXRG: RNA tissue enhanced (pituitary gland 30 nTPM, retina 23 nTPM, skeletal muscle 47 nTPM); no normal tissue stained high; highest cancer staining carcinoid (1 of 4 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 2 specific cancer types at or above 0.5 (primary cutaneous T-cell non-Hodgkin lymphoma, urinary bladder cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RXRA tissue","url":"https://www.proteinatlas.org/ENSG00000186350-RXRA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas RXRB tissue","url":"https://www.proteinatlas.org/ENSG00000204231-RXRB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas RXRG tissue","url":"https://www.proteinatlas.org/ENSG00000143171-RXRG/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000186350 associations","url":"https://platform.opentargets.org/target/ENSG00000186350/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000204231 associations","url":"https://platform.opentargets.org/target/ENSG00000204231/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"Ligand binding recruits co-activators and drives differentiation and apoptosis genes in malignant T cells; RXR also modulates PPAR-gamma-dependent lipid metabolism.","whereFound":["Cutaneous T-cell lymphoma (bexarotene)"],"targetClass":"nuclear-receptor","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (retinoid X receptor); bexarotene acts on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"rfwd3","kind":"target","name":"RFWD3","aka":["ring finger and WD repeat domain 3","E3 ubiquitin-protein ligase RFWD3","FLJ10520","RNF201","FANCW"],"tldr":"RFWD3 (E3 ubiquitin-protein ligase RFWD3) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage. Plays a key role in RPA-mediated DNA damage signalling and repair. Acts by mediating ubiquitination of the RPA complex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalled replication forks, leading to remove them from DNA damage sites and promote homologous recombination.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.89, genetic association 0.56, somatic mutation 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25539"},{"label":"UniProt Q6PCD5","url":"https://www.uniprot.org/uniprotkb/Q6PCD5/entry"},{"label":"NCBI Gene 55159","url":"https://www.ncbi.nlm.nih.gov/gene/55159"},{"label":"Ensembl ENSG00000168411","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168411"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RFWD3","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:25539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25539","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6PCD5","url":"https://www.uniprot.org/uniprotkb/Q6PCD5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000168411","url":"https://platform.opentargets.org/target/ENSG00000168411/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:25539","ensembl":"ENSG00000168411","uniprot":"Q6PCD5","entrez":"55159","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage. Plays a key role in RPA-mediated DNA damage signalling and repair. Acts by mediating ubiquitination of the RPA complex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalled replication forks, leading to remove them from DNA damage sites and promote homologous recombination. Also mediates the ubiquitination of p53/TP53 in the late response to DNA damage, and acts as a positive regulator of p53/TP53 stability, thereby regulating the G1/S DNA damage checkpoint. May act by catalysing the formation of short polyubiquitin chains on p53/TP53 that are not targeted to the proteasome. In response to ionising radiation, interacts with MDM2 and enhances p53/TP53 ubiquitination, possibly by restricting MDM2 from extending polyubiquitin chains on ubiquitinated p53/TP53. Location: Nucleus; Nucleus, PML body; Cytoplasm (UniProt). Locus 16q23.1 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"rfx7","kind":"target","name":"RFX7","aka":["regulatory factor X7","DNA-binding protein RFX7","FLJ12994","RFXDC2"],"tldr":"RFX7 (DNA-binding protein RFX7) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer and Burkitt lymphoma.","summary":"Transcription factor. Acts as a transcriptional activator by binding to promoter regions of target genes, such as PDCD4, PIK3IP1, MXD4, PNRC1, and RFX5. Plays a role in natural killer (NK) cell maintenance and immunity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.66, animal model 0.32, genetic association 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25777","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25777"},{"label":"UniProt Q2KHR2","url":"https://www.uniprot.org/uniprotkb/Q2KHR2/entry"},{"label":"NCBI Gene 64864","url":"https://www.ncbi.nlm.nih.gov/gene/64864"},{"label":"Ensembl ENSG00000181827","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000181827"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["prostate","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RFX7","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:25777","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25777","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q2KHR2","url":"https://www.uniprot.org/uniprotkb/Q2KHR2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RFX7","url":"https://civicdb.org/features/14525","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000181827","url":"https://platform.opentargets.org/target/ENSG00000181827/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: prostate cancer 0.51 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RFX7: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (prostate carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RFX7 tissue","url":"https://www.proteinatlas.org/ENSG00000181827-RFX7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000181827 associations","url":"https://platform.opentargets.org/target/ENSG00000181827/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:25777","ensembl":"ENSG00000181827","uniprot":"Q2KHR2","entrez":"64864","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Transcription factor. Acts as a transcriptional activator by binding to promoter regions of target genes, such as PDCD4, PIK3IP1, MXD4, PNRC1, and RFX5. Plays a role in natural killer (NK) cell maintenance and immunity. May play a role in the process of ciliogenesis in the neural tube and neural tube closure. Location: Nucleus (UniProt). Locus 15q21.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)","Burkitt lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"rgpd3","kind":"target","name":"RGPD3","aka":["RANBP2 like and GRIP domain containing 3","RanBP2-like and GRIP domain-containing protein 3","RGP3"],"tldr":"RGPD3 (RanBP2-like and GRIP domain-containing protein 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Non-small-cell lung cancer and Melanoma.","summary":"UniProt has no function text for A6NKT7; HGNC names it \"RANBP2 like and GRIP domain containing 3\".\n\nIntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Hepatocellular Carcinoma, Lung Squamous Cell Carcinoma, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:32416","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:32416"},{"label":"UniProt A6NKT7","url":"https://www.uniprot.org/uniprotkb/A6NKT7/entry"},{"label":"NCBI Gene 653489","url":"https://www.ncbi.nlm.nih.gov/gene/653489"},{"label":"Ensembl ENSG00000153165","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153165"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["hcc","nsclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RGPD3","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:32416","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:32416","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt A6NKT7","url":"https://www.uniprot.org/uniprotkb/A6NKT7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RGPD3","url":"https://www.intogen.org/search?gene=RGPD3","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:32416","ensembl":"ENSG00000153165","uniprot":"A6NKT7","entrez":"653489","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: 2000.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/A6NKT7/entry","biology":"UniProt has no function text for A6NKT7; HGNC names it \"RANBP2 like and GRIP domain containing 3\". Locus 2q12.2 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)","Melanoma: IntOGen driver in 1 cohort (MEL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rgs17","kind":"target","name":"RGS17","aka":["regulator of G protein signaling 17","Regulator of G protein signaling 17","RGSZ2","RGS-17"],"tldr":"RGS17 (Regulator of G protein signalling 17) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Regulates G protein-coupled receptor signalling cascades, including signalling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Binds selectively to GNAZ and GNAI2 subunits, accelerates their GTPase activity and regulates their signalling activities.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.92, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14088","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14088"},{"label":"UniProt Q9UGC6","url":"https://www.uniprot.org/uniprotkb/Q9UGC6/entry"},{"label":"NCBI Gene 26575","url":"https://www.ncbi.nlm.nih.gov/gene/26575"},{"label":"Ensembl ENSG00000091844","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000091844"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RGS17","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:14088","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14088","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UGC6","url":"https://www.uniprot.org/uniprotkb/Q9UGC6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000091844","url":"https://platform.opentargets.org/target/ENSG00000091844/associations","note":"association with cancer (MONDO_0004992) 0.53; per-cancer scores at or above 0.5: prostate cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:14088","ensembl":"ENSG00000091844","uniprot":"Q9UGC6","entrez":"26575","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ghahremani M.H. et al, 2002.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9UGC6/entry","biology":"Regulates G protein-coupled receptor signalling cascades, including signalling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Binds selectively to GNAZ and GNAI2 subunits, accelerates their GTPase activity and regulates their signalling activities. Negatively regulates mu-opioid receptor-mediated activation of the G proteins. Location: Membrane; Synapse, synaptosome; Nucleus; Cytoplasm (UniProt). Locus 6q25.2 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"rgs7","kind":"target","name":"RGS7","aka":["regulator of G protein signaling 7","Regulator of G protein signaling 7"],"tldr":"RGS7 (Regulator of G protein signalling 7) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Non-small-cell lung cancer and Melanoma.","summary":"GTPase activator component of the RGS7-GNB5 complex that regulates G protein-coupled receptor signalling cascades. The RGS7-GNB5 complex acts as an inhibitor signal transduction by promoting the GTPase activity of G protein alpha subunits, such as GNAO1, thereby driving them into their inactive GDP-bound form. May play a role in synaptic vesicle exocytosis.\n\nIntOGen calls it a driver in 6 cohorts (4 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Lung Adenocarcinoma, Lung Squamous Cell Carcinoma, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10003","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10003"},{"label":"UniProt P49802","url":"https://www.uniprot.org/uniprotkb/P49802/entry"},{"label":"NCBI Gene 6000","url":"https://www.ncbi.nlm.nih.gov/gene/6000"},{"label":"Ensembl ENSG00000182901","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182901"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer","nsclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RGS7","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10003","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10003","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49802","url":"https://www.uniprot.org/uniprotkb/P49802/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RGS7","url":"https://www.intogen.org/search?gene=RGS7","note":"driver in 6 cohorts (Act 4, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10003","ensembl":"ENSG00000182901","uniprot":"P49802","entrez":"6000","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Koelle M.R. et al, Cell, 1996, \"EGL-10 regulates G protein signaling in the C. elegans nervous system and shares a conserved domain with many mammalian proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8548815/","biology":"GTPase activator component of the RGS7-GNB5 complex that regulates G protein-coupled receptor signalling cascades. The RGS7-GNB5 complex acts as an inhibitor signal transduction by promoting the GTPase activity of G protein alpha subunits, such as GNAO1, thereby driving them into their inactive GDP-bound form. May play a role in synaptic vesicle exocytosis. Glycine-dependent regulation of the RGS7-GNB5 complex by GPR158 affects mood and cognition via its ability to regulate neuronal excitability in L2/L3 pyramidal neurons of the prefrontal cortex. Modulates the activity of potassium channels that are activated by GNAO1 in response to muscarinic acetylcholine receptor M2/CHRM2 signalling. Location: Cytoplasm, cytosol; Cytoplasm; Cell membrane; Membrane (UniProt). Locus 1q43 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Non-small-cell lung cancer: IntOGen driver in 3 cohorts (LUAD, LUSC)","Melanoma: IntOGen driver in 2 cohorts (MEL)"],"targetClass":"oncogene","prevalence":[]},{"id":"rheb","kind":"target","name":"RHEB","aka":["Ras homolog, mTORC1 binding","GTP-binding protein Rheb","RHEB2"],"tldr":"RHEB (GTP-binding protein Rheb) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma.","summary":"Small GTPase that acts as an allosteric activator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth. In response to nutrients, growth factors or amino acids, specifically activates the protein kinase activity of MTOR, the catalytic component of the mTORC1 complex: acts by causing a conformational change that allows the alignment of residues in the active site of MTOR, thereby enhancing the phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1). RHEB is also required for localisation of the TSC-TBC complex to lysosomal membranes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Sirolimus.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10011","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10011"},{"label":"UniProt Q15382","url":"https://www.uniprot.org/uniprotkb/Q15382/entry"},{"label":"NCBI Gene 6009","url":"https://www.ncbi.nlm.nih.gov/gene/6009"},{"label":"Ensembl ENSG00000106615","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106615"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RHEB","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10011","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10011","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15382","url":"https://www.uniprot.org/uniprotkb/Q15382/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RHEB","url":"https://civicdb.org/features/4868","note":"1 evidence items, 0 assertions, 1 variants; diseases: Kidney Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists RHEB among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RHEB: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RHEB tissue","url":"https://www.proteinatlas.org/ENSG00000106615-RHEB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106615 associations","url":"https://platform.opentargets.org/target/ENSG00000106615/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10011","ensembl":"ENSG00000106615","uniprot":"Q15382","entrez":"6009","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gromov P.S. et al, FEBS Lett, 1995, \"A novel approach for expression cloning of small GTPases: identification, tissue distribution and chromosome mapping of the human homolog of rheb\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8543055/","biology":"Small GTPase that acts as an allosteric activator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth. In response to nutrients, growth factors or amino acids, specifically activates the protein kinase activity of MTOR, the catalytic component of the mTORC1 complex: acts by causing a conformational change that allows the alignment of residues in the active site of MTOR, thereby enhancing the phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1). RHEB is also required for localisation of the TSC-TBC complex to lysosomal membranes. In response to starvation, RHEB is inactivated by the TSC-TBC complex, preventing activation of mTORC1. Has low intrinsic GTPase activity. Location: Endomembrane system; Lysosome membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane (UniProt). Locus 7q36.1 (HGNC).","whereFound":["Renal cell carcinoma: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"rhoa","kind":"target","name":"RHOA","aka":["ras homolog family member A","Transforming protein RhoA","Rho12","RHOH12","ARH12"],"tldr":"RHOA (Transforming protein RhoA) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Gastric & gastro-oesophageal junction cancer, Bladder & urothelial cancer and 5 more.","summary":"Small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Mainly associated with cytoskeleton organisation, in active state binds to a variety of effector proteins to regulate cellular responses such as cytoskeletal dynamics, cell migration and cell cycle. Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibres.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.34, genetic association 0.03, somatic mutation 0.95). IntOGen calls it a driver in 14 cohorts (13 activating, 1 loss-of-function), covering Burkitt Lymphoma, Bladder Urothelial Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Head and Neck Squamous Cell Carcinoma, Malignant Lymphoma, Non-Hodgkin Lymphoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:667","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:667"},{"label":"UniProt P61586","url":"https://www.uniprot.org/uniprotkb/P61586/entry"},{"label":"NCBI Gene 387","url":"https://www.ncbi.nlm.nih.gov/gene/387"},{"label":"Ensembl ENSG00000067560","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000067560"},{"label":"Sakata-Yanagimoto et al., Nat Genet 2014: somatic RHOA G17V in angioimmunoblastic T-cell lymphoma","url":"https://doi.org/10.1038/ng.2872"},{"label":"Palomero et al., Nat Genet 2014: recurrent mutations in epigenetic regulators, RHOA and FYN in peripheral T-cell lymphoma","url":"https://doi.org/10.1038/ng.2873"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","gastric","urothelial","head-and-neck","mesothelioma","prostate","leukaemia","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["epigenetic-reprogramming","clonal-haematopoiesis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 13 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, RHOA G17V and the epigenetic mutations of T-follicular-helper lymphoma: A single substitution, G17V, in the small GTPase RHOA produces a protein that does not bind GTP and that blocks the wild-type protein as well. It is specific to the tumour cell, whereas the TET2 mutations that accompany it are found in non-tumour haematopoietic cells too, which places the TET2 lesion earlier, in the stem cell, and makes this lymphoma a disease that grows out of clonal haematopoiesis. Frequency: RHOA G17V in 68% of angioimmunoblastic T-cell lymphoma samples, with every G17V case also carrying a TET2 mutation (Sakata-Yanagimoto 2014); independently, in 22 of 35 angioimmunoblastic cases, 67%, and 8 of 44 peripheral T-cell lymphoma not otherwise specified, 18%, alongside recurrent TET2, DNMT3A and IDH2 mutations and less frequent FYN, ATM, B2M and CD58 lesions (Palomero 2014). What it changes about treatment: Not through an approved test. The hypomethylating agents are used in this disease on the strength of the TET2 and DNMT3A biology rather than on a mutation result, and azacitidine-containing regimens have shown activity in T-follicular-helper histology specifically."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RHOA","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:667","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:667","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P61586","url":"https://www.uniprot.org/uniprotkb/P61586/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RHOA","url":"https://civicdb.org/features/399","note":"3 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma, Stomach Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000067560","url":"https://platform.opentargets.org/target/ENSG00000067560/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: gastric cancer 0.65, urinary bladder cancer 0.56, non-Hodgkin lymphoma 0.72, Burkitt lymphoma 0.53, leukaemia 0.56 (GraphQL API, CC0)"},{"label":"IntOGen RHOA","url":"https://www.intogen.org/search?gene=RHOA","note":"driver in 14 cohorts (Act 13, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RHOA: RNA low tissue specificity; no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Gastric & gastro-oesophageal junction cancer, Bladder & urothelial cancer, Head and neck squamous cell carcinoma, Mesothelioma, Prostate cancer, Leukaemia); Open Targets associates it with 2 specific cancer types at or above 0.5 (Burkitt lymphoma, gastric adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P61586","url":"https://www.uniprot.org/uniprotkb/P61586/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RHOA","url":"https://civicdb.org/features/399","note":"3 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma, Stomach Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen RHOA","url":"https://www.intogen.org/search?gene=RHOA","note":"driver in 14 cohorts (Act 13, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RHOA tissue","url":"https://www.proteinatlas.org/ENSG00000067560-RHOA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000067560 associations","url":"https://platform.opentargets.org/target/ENSG00000067560/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:667","ensembl":"ENSG00000067560","uniprot":"P61586","entrez":"387","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yeramian et al, Nucleic Acids Res, 1987, \"Nucleotide sequence of human rho cDNA clone 12\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3822842/","biology":"Small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Mainly associated with cytoskeleton organisation, in active state binds to a variety of effector proteins to regulate cellular responses such as cytoskeletal dynamics, cell migration and cell cycle. Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibres. Involved in a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Plays an essential role in cleavage furrow formation. Required for the apical junction formation of keratinocyte cell-cell adhesion. Location: Cell membrane; Cytoplasm, cytoskeleton; Cleavage furrow; Cytoplasm, cell cortex (UniProt). Locus 3p21.31 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.72 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.65 with gastric cancer (MONDO_0001056); CIViC evidence names this disease","Bladder & urothelial cancer: Open Targets association 0.56 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 2 cohorts (BLCA)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"enzyme","prevalence":[]},{"id":"rhobtb2","kind":"target","name":"RHOBTB2","aka":["Rho related BTB domain containing 2","Rho-related BTB domain-containing protein 2","KIAA0717","DBC2"],"tldr":"RHOBTB2 (Rho-related BTB domain-containing protein 2) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Regulator of cell proliferation and apoptosis. It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.67, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18756","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18756"},{"label":"UniProt Q9BYZ6","url":"https://www.uniprot.org/uniprotkb/Q9BYZ6/entry"},{"label":"NCBI Gene 23221","url":"https://www.ncbi.nlm.nih.gov/gene/23221"},{"label":"Ensembl ENSG00000008853","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000008853"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RHOBTB2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18756","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18756","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BYZ6","url":"https://www.uniprot.org/uniprotkb/Q9BYZ6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000008853","url":"https://platform.opentargets.org/target/ENSG00000008853/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:18756","ensembl":"ENSG00000008853","uniprot":"Q9BYZ6","entrez":"23221","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9872452/","biology":"Regulator of cell proliferation and apoptosis. It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation. Required for MSI2 ubiquitination and degradation. Locus 8p21.3 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"rhoh","kind":"target","name":"RHOH","aka":["ras homolog family member H","Rho-related GTP-binding protein RhoH"],"tldr":"RHOH (Rho-related GTP-binding protein RhoH) is an enzyme. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Negative regulator of haematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signalling by mediating recruitment and activation of ZAP70. Required for phosphorylation of CD3Z, membrane translocation of ZAP70 and subsequent activation of the ZAP70-mediated pathways.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:686","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:686"},{"label":"UniProt Q15669","url":"https://www.uniprot.org/uniprotkb/Q15669/entry"},{"label":"NCBI Gene 399","url":"https://www.ncbi.nlm.nih.gov/gene/399"},{"label":"Ensembl ENSG00000168421","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168421"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RHOH","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:686","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:686","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15669","url":"https://www.uniprot.org/uniprotkb/Q15669/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000168421","url":"https://platform.opentargets.org/target/ENSG00000168421/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: breast cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:686","ensembl":"ENSG00000168421","uniprot":"Q15669","entrez":"399","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dallery et al, Oncogene, 1995, \"TTF, a gene encoding a novel small G protein, fuses to the lymphoma-associated LAZ3 gene by t(3;4) chromosomal translocation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7784061/","biology":"Negative regulator of haematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signalling by mediating recruitment and activation of ZAP70. Required for phosphorylation of CD3Z, membrane translocation of ZAP70 and subsequent activation of the ZAP70-mediated pathways. Essential for efficient beta-selection and positive selection by promoting the ZAP70-dependent phosphorylation of the LAT signalosome during pre-TCR and TCR signalling. Crucial for thymocyte maturation during DN3 to DN4 transition and during positive selection. Plays critical roles in mast cell function by facilitating phosphorylation of SYK in Fc epsilon RI-mediated signal transduction. Location: Cytoplasm; Cell membrane (UniProt). Locus 4p14 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)"],"targetClass":"enzyme","prevalence":[]},{"id":"rhpn2","kind":"target","name":"RHPN2","aka":["rhophilin Rho GTPase binding protein 2","Rhophilin-2"],"tldr":"RHPN2 (Rhophilin-2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer and Non-small-cell lung cancer.","summary":"Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fibre formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.64, somatic mutation 0.78). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Lung Adenocarcinoma, Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19974","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19974"},{"label":"UniProt Q8IUC4","url":"https://www.uniprot.org/uniprotkb/Q8IUC4/entry"},{"label":"NCBI Gene 85415","url":"https://www.ncbi.nlm.nih.gov/gene/85415"},{"label":"Ensembl ENSG00000131941","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000131941"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RHPN2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:19974","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19974","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IUC4","url":"https://www.uniprot.org/uniprotkb/Q8IUC4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000131941","url":"https://platform.opentargets.org/target/ENSG00000131941/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"},{"label":"IntOGen RHPN2","url":"https://www.intogen.org/search?gene=RHPN2","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:19974","ensembl":"ENSG00000131941","uniprot":"Q8IUC4","entrez":"85415","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Korkmaz K.S. et al, 2001.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8IUC4/entry","biology":"Binds specifically to GTP-Rho. May function in a Rho pathway to limit stress fibre formation and/or increase the turnover of F-actin structures in the absence of high levels of RhoA activity. Location: Cytoplasm, perinuclear region (UniProt). Locus 19q13.11 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Non-small-cell lung cancer: IntOGen driver in 2 cohorts (LUAD, LUSC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rrm1","kind":"target","name":"Ribonucleotide reductase (RRM1)","aka":[],"tldr":"The enzyme that makes DNA building blocks from RNA building blocks. Gemcitabine's active form shuts it down and hydroxyurea quenches its catalytic radical, starving dividing cells of the nucleotides they need.","summary":"Ribonucleotide reductase converts ribonucleoside diphosphates into the deoxyribonucleotides used to make DNA, the rate-limiting step of DNA precursor supply. Gemcitabine diphosphate inhibits the RRM1 large subunit while gemcitabine triphosphate is built into DNA and stops chain extension, a self-potentiating combination that underlies its use in pancreatic, lung, bladder, ovarian and breast cancers. Hydroxyurea scavenges the tyrosyl radical of the small subunit and is used to control blood counts in myeloproliferative neoplasms and chronic myeloid leukaemia. High RRM1 expression is associated with gemcitabine resistance.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/RRM1","links":[{"label":"UniProt P23921: RRM1","url":"https://www.uniprot.org/uniprotkb/P23921/entry"}],"tags":[],"related":[],"cancers":["pancreatic","nsclc","urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":["gemcitabine","hydroxyurea"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"RRM1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists RRM1 among essential proteins and finds the RNA at low tissue specificity; the 2 medicines aimed at it (Gemcitabine, Hydroxyurea (hydroxycarbamide)) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA RRM1: RNA low tissue specificity; high antibody staining in 7 normal tissues; highest cancer staining colorectal cancer (3 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma, Lung cancer (all types), Bladder & urothelial cancer); Open Targets associates it with 11 specific cancer types at or above 0.5 (non-small cell lung carcinoma, B-cell chronic lymphocytic leukemia, exocrine pancreatic carcinoma, ovarian carcinoma, melanoma, breast cancer and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RRM1 tissue","url":"https://www.proteinatlas.org/ENSG00000167325-RRM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167325 associations","url":"https://platform.opentargets.org/target/ENSG00000167325/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10451","ensembl":"ENSG00000167325","uniprot":"P23921","entrez":"6240","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Parker N.J. et al, Nucleic Acids Res, 1991, \"Human M1 subunit of ribonucleotide reductase: cDNA sequence and expression in stimulated lymphocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1840662/","biology":"Large catalytic subunit of ribonucleotide reductase; target of gemcitabine diphosphate, with the small subunit RRM2 quenched by hydroxyurea.","whereFound":["Pancreatic, lung, bladder, ovarian and breast cancers treated with gemcitabine","Myeloproliferative neoplasms treated with hydroxyurea"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (DNA building-block synthesis); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"rictor","kind":"target","name":"RICTOR","aka":["RPTOR independent companion of MTOR complex 2","Rapamycin-insensitive companion of mTOR","MGC39830","AVO3","KIAA1999"],"tldr":"RICTOR (Rapamycin-insensitive companion of mTOR) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer, Lung cancer, Breast cancer and 5 more.","summary":"Component of the mechanistic target of rapamycin complex 2 (mTORC2), which transduces signals from growth factors to pathways involved in proliferation, cytoskeletal organisation, lipogenesis and anabolic output. In response to growth factors, mTORC2 phosphorylates and activates AGC protein kinase family members, including AKT (AKT1, AKT2 and AKT3), PKC (PRKCA, PRKCB and PRKCE) and SGK1. In contrast to mTORC1, mTORC2 is nutrient-insensitive.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 1 variant, naming Vistusertib, Sapanisertib, MTOR Kinase Inhibitor AZD8055 and Onatasertib. Open Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.61, genetic association 0.00, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28611","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28611"},{"label":"UniProt Q6R327","url":"https://www.uniprot.org/uniprotkb/Q6R327/entry"},{"label":"NCBI Gene 253260","url":"https://www.ncbi.nlm.nih.gov/gene/253260"},{"label":"Ensembl ENSG00000164327","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164327"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["gastric","lung-cancer","breast-cancer","skin-cancer","colorectal","sclc","nsclc","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RICTOR","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:28611","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28611","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6R327","url":"https://www.uniprot.org/uniprotkb/Q6R327/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RICTOR","url":"https://civicdb.org/features/20480","note":"4 evidence items, 0 assertions, 1 variants; diseases: Lung Small Cell Carcinoma, Lung Adenocarcinoma, Gastric Adenocarcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000164327","url":"https://platform.opentargets.org/target/ENSG00000164327/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: colorectal cancer 0.50, gastric cancer 0.51, melanoma 0.54, skin cancer 0.52, breast cancer 0.54, lung cancer 0.57 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists RICTOR among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RICTOR: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 31 nTPM); high antibody staining in 14 normal tissues; highest cancer staining endometrial cancer (5 of 11 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Lung cancer (all types), Breast cancer (all types), Skin cancer (all types), Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RICTOR tissue","url":"https://www.proteinatlas.org/ENSG00000164327-RICTOR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164327 associations","url":"https://platform.opentargets.org/target/ENSG00000164327/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:28611","ensembl":"ENSG00000164327","uniprot":"Q6R327","entrez":"253260","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohara et al, DNA Res, 2002, \"Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12056414/","biology":"Component of the mechanistic target of rapamycin complex 2 (mTORC2), which transduces signals from growth factors to pathways involved in proliferation, cytoskeletal organisation, lipogenesis and anabolic output. In response to growth factors, mTORC2 phosphorylates and activates AGC protein kinase family members, including AKT (AKT1, AKT2 and AKT3), PKC (PRKCA, PRKCB and PRKCE) and SGK1. In contrast to mTORC1, mTORC2 is nutrient-insensitive. Within the mTORC2 complex, RICTOR probably acts as a molecular adapter. RICTOR is responsible for the FKBP12-rapamycin-insensitivity of mTORC2. mTORC2 plays a critical role in AKT1 activation by mediating phosphorylation of different sites depending on the context, such as 'Thr-450', 'Ser-473', 'Ser-477' or 'Thr-479', facilitating the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDPK1/PDK1 which is a prerequisite for full activation. mTORC2 catalyses the phosphorylation of SGK1 at 'Ser-422' and of PRKCA on 'Ser-657'. The mTORC2 complex also phosphorylates various proteins involved in insulin signalling, such as FBXW8 and IGF2BP1. mTORC2 acts upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibres or F-actin. Location: Cell membrane; Endoplasmic reticulum membrane; Lysosome membrane (UniProt). Locus 5p13.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056); CIViC evidence names this disease","Lung cancer: Open Targets association 0.57 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)","Small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ripk1","kind":"target","name":"RIPK1","aka":["receptor interacting serine/threonine kinase 1","Receptor-interacting serine/threonine-protein kinase 1","RIP1","RIP-1"],"tldr":"RIPK1 (Receptor-interacting serine/threonine-protein kinase 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Chronic lymphocytic leukaemia.","summary":"Serine-threonine kinase which is a key regulator of TNF-mediated apoptosis, necroptosis and inflammatory pathways. Exhibits kinase activity-dependent functions that regulate cell death and kinase-independent scaffold functions regulating inflammatory signalling and cell survival. Has kinase-independent scaffold functions: upon binding of TNF to TNFR1, RIPK1 is recruited to the TNF-R1 signalling complex (TNF-RSC also known as complex I) where it acts as a scaffold protein promoting cell survival, in part, by activating the canonical NF-kappa-B pathway.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10019","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10019"},{"label":"UniProt Q13546","url":"https://www.uniprot.org/uniprotkb/Q13546/entry"},{"label":"NCBI Gene 8737","url":"https://www.ncbi.nlm.nih.gov/gene/8737"},{"label":"Ensembl ENSG00000137275","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137275"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RIPK1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10019","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10019","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13546","url":"https://www.uniprot.org/uniprotkb/Q13546/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RIPK1","url":"https://www.intogen.org/search?gene=RIPK1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10019","ensembl":"ENSG00000137275","uniprot":"Q13546","entrez":"8737","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stanger B.Z. et al, Cell, 1995, \"RIP: a novel protein containing a death domain that interacts with Fas/APO-1 (CD95) in yeast and causes cell death\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7538908/","biology":"Serine-threonine kinase which is a key regulator of TNF-mediated apoptosis, necroptosis and inflammatory pathways. Exhibits kinase activity-dependent functions that regulate cell death and kinase-independent scaffold functions regulating inflammatory signalling and cell survival. Has kinase-independent scaffold functions: upon binding of TNF to TNFR1, RIPK1 is recruited to the TNF-R1 signalling complex (TNF-RSC also known as complex I) where it acts as a scaffold protein promoting cell survival, in part, by activating the canonical NF-kappa-B pathway. Kinase activity is essential to regulate necroptosis and apoptosis, two parallel forms of cell death: upon activation of its protein kinase activity, regulates assembly of two death-inducing complexes, namely complex IIa (RIPK1-FADD-CASP8), which drives apoptosis, and the complex IIb (RIPK1-RIPK3-MLKL), which drives necroptosis. RIPK1 is required to limit CASP8-dependent TNFR1-induced apoptosis. In normal conditions, RIPK1 acts as an inhibitor of RIPK3-dependent necroptosis, a process mediated by RIPK3 component of complex IIb, which catalyses phosphorylation of MLKL upon induction by ZBP1. Location: Cytoplasm; Cell membrane (UniProt). Locus 6p25.2 (HGNC).","whereFound":["Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)"],"targetClass":"kinase","prevalence":[]},{"id":"rit1","kind":"target","name":"RIT1","aka":["Ras like without CAAX 1","GTP-binding protein Rit1","ROC1","MGC125864","MGC125865"],"tldr":"RIT1 (GTP-binding protein Rit1) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer and Non-small-cell lung cancer.","summary":"Plays a crucial role in coupling nerve growth factor (NGF) stimulation to the activation of both EPHB2 and MAPK14 signalling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signalling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation. Recognised by LZTR1, which mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex.\n\nCIViC holds 14 clinical evidence items and 0 assertions across 8 variants, naming Selumetinib and Pictilisib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10023","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10023"},{"label":"UniProt Q92963","url":"https://www.uniprot.org/uniprotkb/Q92963/entry"},{"label":"NCBI Gene 6016","url":"https://www.ncbi.nlm.nih.gov/gene/6016"},{"label":"Ensembl ENSG00000143622","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143622"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["endometrial","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 14 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RIT1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10023","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10023","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92963","url":"https://www.uniprot.org/uniprotkb/Q92963/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RIT1","url":"https://civicdb.org/features/4875","note":"14 evidence items, 0 assertions, 8 variants; diseases: Lung Adenocarcinoma, Endometrial Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RIT1: RNA low tissue specificity; high antibody staining in 10 normal tissues; highest cancer staining colorectal cancer (6 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Endometrial cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RIT1 tissue","url":"https://www.proteinatlas.org/ENSG00000143622-RIT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143622 associations","url":"https://platform.opentargets.org/target/ENSG00000143622/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10023","ensembl":"ENSG00000143622","uniprot":"Q92963","entrez":"6016","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee C.H.J. et al, J. Neurosci, 1996, \"Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8824319/","biology":"Plays a crucial role in coupling nerve growth factor (NGF) stimulation to the activation of both EPHB2 and MAPK14 signalling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1 transactivation through the Ras-MAPK signalling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation. Recognised by LZTR1, which mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex. Location: Cell membrane (UniProt). Locus 1q22 (HGNC).","whereFound":["Endometrial cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"rmi1","kind":"target","name":"RMI1","aka":["RecQ mediated genome instability 1","RecQ-mediated genome instability protein 1","FLJ12888","BLAP75","C9orf76"],"tldr":"RMI1 (RecQ-mediated genome instability protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.44, affected pathway 0.87, genetic association 0.39).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25764","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25764"},{"label":"UniProt Q9H9A7","url":"https://www.uniprot.org/uniprotkb/Q9H9A7/entry"},{"label":"NCBI Gene 80010","url":"https://www.ncbi.nlm.nih.gov/gene/80010"},{"label":"Ensembl ENSG00000178966","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178966"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RMI1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:25764","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25764","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H9A7","url":"https://www.uniprot.org/uniprotkb/Q9H9A7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000178966","url":"https://platform.opentargets.org/target/ENSG00000178966/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:25764","ensembl":"ENSG00000178966","uniprot":"Q9H9A7","entrez":"80010","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability. Location: Nucleus (UniProt). Locus 9q21.32 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"rmi2","kind":"target","name":"RMI2","aka":["RecQ mediated genome instability 2","RecQ-mediated genome instability protein 2","MGC24665","BLAP18","C16orf75"],"tldr":"RMI2 (RecQ-mediated genome instability protein 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Non-Hodgkin lymphoma, Breast cancer, Lung cancer and 1 more.","summary":"Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localisation, and function of BLM, TOP3A, and complexes containing BLM.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.89, affected pathway 0.87, genetic association 0.41, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28349","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28349"},{"label":"UniProt Q96E14","url":"https://www.uniprot.org/uniprotkb/Q96E14/entry"},{"label":"NCBI Gene 116028","url":"https://www.ncbi.nlm.nih.gov/gene/116028"},{"label":"Ensembl ENSG00000175643","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175643"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","breast-cancer","lung-cancer","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RMI2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:28349","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28349","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96E14","url":"https://www.uniprot.org/uniprotkb/Q96E14/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000175643","url":"https://platform.opentargets.org/target/ENSG00000175643/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.57, non-Hodgkin lymphoma 0.61, breast cancer 0.54, lung cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:28349","ensembl":"ENSG00000175643","uniprot":"Q96E14","entrez":"116028","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates. It is required to regulate sister chromatid segregation and to limit DNA crossover. Essential for the stability, localisation, and function of BLM, TOP3A, and complexes containing BLM. In the RMI complex, it is required to target BLM to chromatin and stress-induced nuclear foci and mitotic phosphorylation of BLM. Location: Nucleus (UniProt). Locus 16p13.13 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.50 with lung cancer (MONDO_0008903)","Diffuse large B-cell lymphoma: Open Targets association 0.57 with diffuse large B-cell lymphoma (MONDO_0018905)"],"targetClass":"other","prevalence":[]},{"id":"rnasel","kind":"target","name":"RNASEL","aka":["ribonuclease L","2-5A-dependent ribonuclease","RNS4","PRCA1"],"tldr":"RNASEL (2-5A-dependent ribonuclease) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.78, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10050","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10050"},{"label":"UniProt Q05823","url":"https://www.uniprot.org/uniprotkb/Q05823/entry"},{"label":"NCBI Gene 6041","url":"https://www.ncbi.nlm.nih.gov/gene/6041"},{"label":"Ensembl ENSG00000135828","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135828"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RNASEL","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10050","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10050","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q05823","url":"https://www.uniprot.org/uniprotkb/Q05823/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135828","url":"https://platform.opentargets.org/target/ENSG00000135828/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: prostate cancer 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10050","ensembl":"ENSG00000135828","uniprot":"Q05823","entrez":"6041","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhou et al, Cell, 1993, \"Expression cloning of 2-5A-dependent RNAase: a uniquely regulated mediator of interferon action\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7680958/","biology":"Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances. In the crosstalk between autophagy and apoptosis proposed to induce autophagy as an early stress response to small double-stranded RNA and at later stages of prolonged stress to activate caspase-dependent proteolytic cleavage of BECN1 to terminate autophagy and promote apoptosis. Might play a central role in the regulation of mRNA turnover. Location: Cytoplasm; Mitochondrion (UniProt). Locus 1q25.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.56 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"rnaset2","kind":"target","name":"RNASET2","aka":["ribonuclease T2","Ribonuclease T2","RNASE6PL","FLJ10907","bA514O12.3"],"tldr":"RNASET2 (Ribonuclease T2) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Basal cell carcinoma.","summary":"Ribonuclease that plays an essential role in innate immune response by recognising and degrading RNAs from microbial pathogens that are subsequently sensed by TLR8. Cleaves preferentially single-stranded RNA molecules between purine and uridine residues, which critically contributes to the supply of catabolic uridine and the generation of purine-2',3'-cyclophosphate-terminated oligoribonucleotides. In turn, RNase T2 degradation products promote the RNA-dependent activation of TLR8.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21686","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21686"},{"label":"UniProt O00584","url":"https://www.uniprot.org/uniprotkb/O00584/entry"},{"label":"NCBI Gene 8635","url":"https://www.ncbi.nlm.nih.gov/gene/8635"},{"label":"Ensembl ENSG00000026297","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000026297"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RNASET2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:21686","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21686","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00584","url":"https://www.uniprot.org/uniprotkb/O00584/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000026297","url":"https://platform.opentargets.org/target/ENSG00000026297/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: basal cell carcinoma 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:21686","ensembl":"ENSG00000026297","uniprot":"O00584","entrez":"8635","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Trubia et al, Genomics, 1997, \"Mammalian Rh/T2/S-glycoprotein ribonuclease family genes: cloning of a human member located in a region of chromosome 6 (6q27) frequently deleted in human malignancies\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9192857/","biology":"Ribonuclease that plays an essential role in innate immune response by recognising and degrading RNAs from microbial pathogens that are subsequently sensed by TLR8. Cleaves preferentially single-stranded RNA molecules between purine and uridine residues, which critically contributes to the supply of catabolic uridine and the generation of purine-2',3'-cyclophosphate-terminated oligoribonucleotides. In turn, RNase T2 degradation products promote the RNA-dependent activation of TLR8. In plasmacytoid dendritic cells, it cooperates with PLD3 or PLD4 5'->3' exonucleases to process RNA fragments and release 2',3'-cyclic guanosine monophosphate (2',3'-cGMP), a potent stimulatory ligand for TLR7. Also plays a key role in degradation of mitochondrial RNA and processing of non-coding RNA imported from the cytosol into mitochondria. Participates as well in degradation of mitochondrion-associated cytosolic rRNAs. Location: Secreted; Lysosome lumen; Endoplasmic reticulum lumen; Mitochondrion intermembrane space (UniProt). Locus 6q27 (HGNC).","whereFound":["Basal cell carcinoma: Open Targets association 0.53 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"enzyme","prevalence":[]},{"id":"rnf213","kind":"target","name":"RNF213","aka":["ring finger protein 213","E3 ubiquitin-protein ligase RNF213","KIAA1554","NET57","ALO17","C17orf27","KIAA1618","MYMY2"],"tldr":"RNF213 (E3 ubiquitin-protein ligase RNF213) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Bladder & urothelial cancer, Renal cell carcinoma and 5 more.","summary":"Atypical E3 ubiquitin ligase that can catalyse ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity. Acts as a key immune sensor by catalysing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS. Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains.\n\nIntOGen calls it a driver in 11 cohorts (5 activating, 6 loss-of-function), covering Angiosarcoma, Bladder Urothelial Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Oesophageal Adenocarcinoma, Glioblastoma Multiforme and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14539"},{"label":"UniProt Q63HN8","url":"https://www.uniprot.org/uniprotkb/Q63HN8/entry"},{"label":"NCBI Gene 57674","url":"https://www.ncbi.nlm.nih.gov/gene/57674"},{"label":"Ensembl ENSG00000173821","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173821"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate","urothelial","rcc","esophageal","endometrial","angiosarcoma","clear-cell-rcc","cholangiocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RNF213","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14539","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q63HN8","url":"https://www.uniprot.org/uniprotkb/Q63HN8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RNF213","url":"https://www.intogen.org/search?gene=RNF213","note":"driver in 11 cohorts (Act 5, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14539","ensembl":"ENSG00000173821","uniprot":"Q63HN8","entrez":"57674","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10997877/","biology":"Atypical E3 ubiquitin ligase that can catalyse ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity. Acts as a key immune sensor by catalysing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS. Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains. Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader. Also functions as an intracellular sensor for ISGylated proteins: upon type I interferon stimulation, undergoes ISGylation and oligomerises on lipid droplets to form a binding platform for ISG15-modified substrate proteins, thereby acting as a broad-spectrum antimicrobial effector. Restricts intracellular bacterial pathogens, such as Listeria monocytogenes, in an ISG15-dependent manner by decorating the bacterial surface with ubiquitin to promote autophagic clearance. Location: Cytoplasm, cytosol; Lipid droplet (UniProt). Locus 17q25.3 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 2 cohorts (PRAD)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Endometrial cancer: IntOGen driver in 1 cohort (UCEC)","Angiosarcoma: IntOGen driver in 1 cohort (ANGS)"],"targetClass":"enzyme","prevalence":[]},{"id":"rnf43","kind":"target","name":"RNF43","aka":["ring finger protein 43","E3 ubiquitin-protein ligase RNF43","FLJ20315","RNF124","DKFZp781H0392"],"tldr":"RNF43 (E3 ubiquitin-protein ligase RNF43) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma, Colorectal cancer, Gastric & gastro-oesophageal junction cancer and 5 more.","summary":"E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signalling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signalling pathway. Along with RSPO2 and ZNRF3, constitutes a master switch that governs limb specification.\n\nOpen Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.98, genetic association 0.57, somatic mutation 0.97, animal model 0.68). IntOGen calls it a driver in 21 cohorts (4 activating, 17 loss-of-function), covering Cholangiocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Lung Squamous Cell Carcinoma, Ovarian Epithelial Tumour and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18505","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18505"},{"label":"UniProt Q68DV7","url":"https://www.uniprot.org/uniprotkb/Q68DV7/entry"},{"label":"NCBI Gene 54894","url":"https://www.ncbi.nlm.nih.gov/gene/54894"},{"label":"Ensembl ENSG00000108375","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108375"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["pancreatic","colorectal","gastric","prostate","esophageal","ovarian","endometrial","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["wnt"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-wu-pancreatic-cyst-exomes-rnf43-pnas-2011","paper-noe-cyst-malignant-progression-genomics-nat-commun-2020","paper-tcga-pancreatic-integrated-characterisation-cancer-cell-2017","paper-bailey-molecular-subtypes-pancreatic-nature-2016"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 17 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Pancreatic ductal adenocarcinoma: inactivating mutations in 5 to 8% (cBioPortal), a recurrent driver in the TCGA analysis and part of the WNT pathway of the ten (Cancer Genome Atlas 2017, Bailey 2016). It was established as a suppressor of both IPMN (6 of 8) and mucinous cystic neoplasm (3 of 8) (Wu 2011, PNAS) and is largely confined to the non-invasive lesion during cyst progression (Noe 2020).","Colorectal cancer: inactivating mutation in 5 to 12%, but 63.8% of MSI-high against 3.7% of microsatellite-stable samples in crc_msk_2026, because most calls are the G659fs coding-microsatellite frameshift. It is the WNT driver of the serrated and hypermutated route, where APC is often intact (Crockett and Nagtegaal 2019), and the entry point for porcupine inhibitors in trials."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RNF43","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18505","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18505","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q68DV7","url":"https://www.uniprot.org/uniprotkb/Q68DV7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108375","url":"https://platform.opentargets.org/target/ENSG00000108375/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.65, gastric cancer 0.63, prostate cancer 0.55, ovarian cancer 0.51, skin cancer 0.52, lung cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen RNF43","url":"https://www.intogen.org/search?gene=RNF43","note":"driver in 21 cohorts (Act 4, LoF 17); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18505","ensembl":"ENSG00000108375","uniprot":"Q68DV7","entrez":"54894","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yagyu et al, Int. J. Oncol, 2004, \"A novel oncoprotein RNF43 functions in an autocrine manner in colorectal cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15492824/","biology":"E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signalling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signalling pathway. Along with RSPO2 and ZNRF3, constitutes a master switch that governs limb specification. Location: Cell membrane; Endoplasmic reticulum membrane; Nucleus envelope (UniProt). Locus 17q22 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 7 cohorts (PAAD, PANCREAS)","Colorectal cancer: Open Targets association 0.65 with colorectal cancer (MONDO_0005575); IntOGen driver in 3 cohorts (COAD, COADREAD)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.63 with gastric cancer (MONDO_0001056); IntOGen driver in 2 cohorts (STAD)","Prostate cancer: Open Targets association 0.55 with prostate cancer (MONDO_0008315); IntOGen driver in 3 cohorts (PRAD, PROSTATE)","Oesophageal cancer: IntOGen driver in 2 cohorts (ESCA)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Pancreatic ductal adenocarcinoma: inactivating mutation 5-8%","Colorectal cancer: inactivating mutation (g659fs hotspot) 5-12%"],"targetClass":"enzyme","prevalence":[{"cancerId":"pancreatic","pct":"5-8","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal: 142 of 2,336, 6.1%, in pdac_msk_2024; 30 of 395, 7.6%, in pancreas_msk_2024; 11 of 179, 6.1%, in paad_tcga_pan_can_atlas_2018; 21 of 383, 5.5%, in paad_qcmg_uq_2016; 9 of 140, 6.4%, in paad_cptac_2021; 6 of 109 in paad_utsw_2015. Mutated in 6 of 8 IPMNs and 3 of 8 MCNs, establishing it as a suppressor of both (Wu 2011, PNAS); RNF43 alterations were largely confined to the non-invasive lesions in cyst progression (Noe 2020); a recurrent gene in TCGA (Cancer Genome Atlas 2017) and part of the WNT pathway of the ten (Bailey 2016)."},{"cancerId":"colorectal","pct":"5-12","measure":"Inactivating mutation (G659fs hotspot)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 734 of 7,237, 10.1%, in crc_msk_2026; 95 of 1,134, 8.4%, in crc_msk_2017; 105 of 1,516, 6.9%, in crc_eo_2020; 46 of 534, 8.6%, in coadread_tcga_pan_can_atlas_2018; 72 of 619, 11.6%, in coadread_dfci_2016."}]},{"id":"rnf6","kind":"target","name":"RNF6","aka":["ring finger protein 6","E3 ubiquitin-protein ligase RNF6","DKFZp686P0776"],"tldr":"RNF6 (E3 ubiquitin-protein ligase RNF6) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer and Oesophageal cancer.","summary":"E3 ubiquitin-protein ligase mediating 'Lys-48'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation. Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover. Mediates 'Lys-6' and 'Lys-27'-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.08, somatic mutation 0.66, genetic literature 0.30). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10069","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10069"},{"label":"UniProt Q9Y252","url":"https://www.uniprot.org/uniprotkb/Q9Y252/entry"},{"label":"NCBI Gene 6049","url":"https://www.ncbi.nlm.nih.gov/gene/6049"},{"label":"Ensembl ENSG00000127870","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127870"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","esophageal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RNF6","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10069","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10069","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y252","url":"https://www.uniprot.org/uniprotkb/Q9Y252/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000127870","url":"https://platform.opentargets.org/target/ENSG00000127870/associations","note":"association with cancer (MONDO_0004992) 0.53; per-cancer scores at or above 0.5: oesophageal cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen RNF6","url":"https://www.intogen.org/search?gene=RNF6","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10069","ensembl":"ENSG00000127870","uniprot":"Q9Y252","entrez":"6049","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Macdonald D.H.C. et al, Genomics, 1999, \"Cloning and characterization of RNF6, a novel RING finger gene mapping to 13q12\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10331950/","biology":"E3 ubiquitin-protein ligase mediating 'Lys-48'-linked polyubiquitination of LIMK1 and its subsequent targeting to the proteasome for degradation. Negatively regulates axonal outgrowth through regulation of the LIMK1 turnover. Mediates 'Lys-6' and 'Lys-27'-linked polyubiquitination of AR/androgen receptor thereby modulating its transcriptional activity. May also bind DNA and function as a transcriptional regulator. Mediates polyubiquitination of QKI in macrophages, leading to its degradation. Location: Nucleus; Cytoplasm; Cell projection, axon; Nucleus, PML body (UniProt). Locus 13q12.13 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Oesophageal cancer: Open Targets association 0.51 with oesophageal cancer (MONDO_0007576)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"robo2","kind":"target","name":"ROBO2","aka":["roundabout guidance receptor 2","Roundabout homolog 2","KIAA1568"],"tldr":"ROBO2 (Roundabout homolog 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Prostate cancer, Renal cell carcinoma and 5 more.","summary":"Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development.\n\nIntOGen calls it a driver in 16 cohorts (8 activating, 8 loss-of-function), covering Chromophobe Renal Cell Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Oesophagogastric Adenocarcinoma, Oesophageal Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10250"},{"label":"UniProt Q9HCK4","url":"https://www.uniprot.org/uniprotkb/Q9HCK4/entry"},{"label":"NCBI Gene 6092","url":"https://www.ncbi.nlm.nih.gov/gene/6092"},{"label":"Ensembl ENSG00000185008","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185008"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal","prostate","rcc","gastric","esophageal","hcc","non-hodgkin-lymphoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 8 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 8 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ROBO2","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10250","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10250","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HCK4","url":"https://www.uniprot.org/uniprotkb/Q9HCK4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ROBO2","url":"https://www.intogen.org/search?gene=ROBO2","note":"driver in 16 cohorts (Act 8, LoF 8); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10250","ensembl":"ENSG00000185008","uniprot":"Q9HCK4","entrez":"6092","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kidd et al, Cell, 1998, \"Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9458045/","biology":"Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development. Location: Membrane (UniProt). Locus 3p12.3 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 5 cohorts (COAD, COADREAD)","Prostate cancer: IntOGen driver in 2 cohorts (PRAD)","Renal cell carcinoma: IntOGen driver in 1 cohort (CHRCC)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (EGC)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"robo4","kind":"target","name":"ROBO4","aka":["roundabout guidance receptor 4","Roundabout homolog 4","FLJ20798","ECSM4"],"tldr":"ROBO4 (Roundabout homolog 4) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins. Involved in the maintenance of endothelial barrier organisation and function.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Angiogenesis Inhibitor.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17985","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17985"},{"label":"UniProt Q8WZ75","url":"https://www.uniprot.org/uniprotkb/Q8WZ75/entry"},{"label":"NCBI Gene 54538","url":"https://www.ncbi.nlm.nih.gov/gene/54538"},{"label":"Ensembl ENSG00000154133","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000154133"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ROBO4","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17985","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17985","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WZ75","url":"https://www.uniprot.org/uniprotkb/Q8WZ75/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ROBO4","url":"https://civicdb.org/features/12367","note":"1 evidence items, 0 assertions, 1 variants; diseases: Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ROBO4: RNA low tissue specificity; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ROBO4 tissue","url":"https://www.proteinatlas.org/ENSG00000154133-ROBO4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000154133 associations","url":"https://platform.opentargets.org/target/ENSG00000154133/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17985","ensembl":"ENSG00000154133","uniprot":"Q8WZ75","entrez":"54538","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Huminiecki et al, Genomics, 2002, \"Magic roundabout is a new member of the roundabout receptor family that is endothelial specific and expressed at sites of active angiogenesis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11944987/","biology":"Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins. Involved in the maintenance of endothelial barrier organisation and function. Locus 11q24.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ron","kind":"target","name":"RON receptor (MST1R)","aka":[],"tldr":"RON is a receptor kinase from the same family as MET; multi-kinase drugs such as crizotinib and cabozantinib hit it as well as their main targets.","summary":"Macrophage-stimulating protein receptor (RON, gene MST1R) is the sister receptor of MET, activated by MSP and overexpressed or aberrantly spliced in several carcinomas, where it promotes invasion and macrophage-driven inflammation. It is not a primary approval target, but crizotinib, cabozantinib and other MET-family inhibitors inhibit it and ChEMBL lists it among their targets.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/MST1R","links":[{"label":"UniProt Q04912: MST1R","url":"https://www.uniprot.org/uniprotkb/Q04912/entry"},{"label":"HGNC:7381 MST1R","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7381"},{"label":"ChEMBL target CHEMBL2689","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL2689"}],"tags":[],"related":["met"],"cancers":["nsclc","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":["crizotinib","cabozantinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"MST1R","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal intestine, skin 1, stomach 1, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA MST1R: RNA tissue enhanced (intestine 18 nTPM, skin 1 30 nTPM, stomach 1 26 nTPM); high antibody staining in 5 normal tissues; highest cancer staining melanoma (10 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Colorectal cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (non-small cell lung carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas MST1R tissue","url":"https://www.proteinatlas.org/ENSG00000164078-MST1R/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas MST1R pathology","url":"https://www.proteinatlas.org/ENSG00000164078-MST1R/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164078 associations","url":"https://platform.opentargets.org/target/ENSG00000164078/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:7381","ensembl":"ENSG00000164078","uniprot":"Q04912","entrez":"4486","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ronsin et al, Oncogene, 1993, \"A novel putative receptor protein tyrosine kinase of the met family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8386824/","biology":"A receptor tyrosine kinase signalling through PI3K, MAPK and beta-catenin pathways; short isoforms act as constitutively active oncogenes.","whereFound":["Overexpressed in subsets of breast, colon, pancreatic and lung carcinomas","Macrophages"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (RON receptor kinase, a secondary target of MET drugs); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"ror1","kind":"target","name":"ROR1","aka":[],"tldr":"ROR1 is a fetal pseudo-kinase receptor re-expressed on over 90% of chronic lymphocytic leukaemias, 30 to 50% of diffuse large B-cell lymphomas and 40 to 60% of triple-negative breast cancers, and largely absent from healthy adult tissue. Zilovertamab vedotin uses it as an ADC address, in phase 3 in large B-cell lymphoma; whether expression level predicts benefit is unproven.","summary":"ROR1 is an oncofetal receptor tyrosine kinase-like protein, a Wnt5a pseudo-kinase receptor that drives survival signalling in CLL and mantle cell lymphoma and is largely absent from normal adult tissue. Surface expression is seen in over 90% of CLL, 30-50% of DLBCL, and 40-60% of TNBC by IHC, with NSCLC expression also reported. Zilovertamab vedotin (MK-2140), an ADC, is in phase 3 in DLBCL, and the TNBC and NSCLC expression supports solid-tumour programmes. Because the receptor is a pseudo-kinase, it is used as a delivery address rather than a signalling target, and whether expression level predicts ADC benefit remains to be shown. The simple version is an embryonic receptor that many cancers re-express, giving ADCs a target largely missing from healthy cells.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/ROR1","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/ROR1"}],"tags":["adc-target"],"related":[],"cancers":["dlbcl","cll","tnbc"],"sections":[],"technologies":[],"targets":[],"drugs":["zilovertamab-vedotin"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct07510802"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"ROR1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (Zilovertamab vedotin) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA ROR1: RNA tissue enhanced (parathyroid gland 23 nTPM); no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ROR1 tissue","url":"https://www.proteinatlas.org/ENSG00000185483-ROR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas ROR1 pathology","url":"https://www.proteinatlas.org/ENSG00000185483-ROR1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185483 associations","url":"https://platform.opentargets.org/target/ENSG00000185483/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10256","ensembl":"ENSG00000185483","uniprot":"Q01973","entrez":"4919","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Masiakowski et al, J. Biol. Chem, 1992, \"A novel family of cell surface receptors with tyrosine kinase-like domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1334494/","biology":"Wnt5a pseudo-kinase receptor; drives survival signalling in CLL and MCL.","whereFound":["CLL","Mantle cell lymphoma","DLBCL","TNBC","NSCLC"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"cll","pct":">90","measure":"Surface expression","source":"https://en.wikipedia.org/wiki/ROR1"},{"cancerId":"dlbcl","pct":"30-50","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/ROR1"},{"cancerId":"tnbc","pct":"40-60","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/ROR1"}]},{"id":"ros1","kind":"target","name":"ROS1","aka":[],"tldr":"A gene fusion in about 1-2% of lung cancers that responds for years to targeted pills, now in their third generation.","summary":"ROS1 rearrangements (CD74-ROS1 most common) occur in ~1-2% of NSCLC, typically in younger never-smokers. Crizotinib (2016) and entrectinib (2019) were first; repotrectinib (2023) covers the G2032R solvent-front mutation; zidesamtinib (July 2026) adds TRK sparing to reduce neurologic toxicity. Also seen in cholangiocarcinoma and glioblastoma (rare).","asOf":"2026-09-06","wikipedia":"https://en.wikipedia.org/wiki/ROS1","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/ROS1"}],"tags":["driver","kinase"],"related":["ros1-fusion"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["repotrectinib","zidesamtinib","taletrectinib","oncomine-dx-target-test"],"companies":[],"institutions":[],"pathways":["ras-mapk","pi3k-akt-mtor"],"terms":["gene-fusion"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-bergethon-ros1-rearrangements-lung-jco-2012"],"journals":[],"dependsOn":[],"notes":["Lung cancer: rearranged in 1 to 3% of adenocarcinomas, commonly with CD74, and concentrated in younger never smokers with adenocarcinoma histology (Bergethon 2012; cBioPortal). ROS1 missense variants read high on exome panels, including 7.6% of squamous tumours, and are passengers. Testing is recommended for every patient with lung adenocarcinoma, with immunohistochemistry acceptable as a screen (Lindeman 2018)."],"symbol":"ROS1","role":[],"sources":[],"specificity":"tumour-specific","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (ROS1 fusion (ROS1-positive)) absent from normal cells. HPA ROS1: RNA group enriched (epididymis 55 nTPM, lung 30 nTPM); no normal tissue stained high; highest cancer staining liver cancer (1 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (non-small cell lung carcinoma, lung adenocarcinoma). Tissue-agnostic: Entrectinib US 2019: \"ROS1-positive metastatic NSCLC; NTRK fusion solid tumours (≥12 years, extended to ≥1 month 2023)\". (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"ROS1 fusion (ROS1-positive) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=c7c71b0c-2549-4495-86b6-c2807fa54908","note":"ROS1-positive"},{"label":"Human Protein Atlas ROS1 tissue","url":"https://www.proteinatlas.org/ENSG00000047936-ROS1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000047936 associations","url":"https://platform.opentargets.org/target/ENSG00000047936/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10261","ensembl":"ENSG00000047936","uniprot":"P08922","entrez":"6098","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Matsushime et al, Mol. Cell. Biol, 1986, \"Human c-ros-1 gene homologous to the v-ros sequence of UR2 sarcoma virus encodes for a transmembrane receptorlike molecule\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3023956/","biology":"Receptor tyrosine kinase with homology to ALK; fusions constitutively activate MAPK, PI3K, and JAK-STAT.","whereFound":["NSCLC (~1-2%)","Cholangiocarcinoma, glioblastoma, Spitz tumours (rare)","Non-small-cell lung cancer: rearrangement, commonly cd74-ros1 1-3%"],"targetClass":"kinase","prevalence":[{"cancerId":"nsclc","pct":1.7,"measure":"FISH, ROS1 rearrangement (18 of 1,073 NSCLC)","source":"https://doi.org/10.1200/JCO.2011.35.6345","note":"Bergethon 2012; enriched in younger never-smokers with adenocarcinoma"},{"cancerId":"nsclc","pct":"1-3","measure":"Rearrangement, commonly CD74-ROS1","source":"https://www.cbioportal.org/study/summary?id=lung_msk_2017","note":"cBioPortal structural variants: 25 of 915, 2.7%, in lung_msk_2017 (CD74 in 13 events, EZR in 4, SDC4 in 3, SLC34A2 in 2); 44 of 2,621, 1.7%, in nsclc_ctdx_msk_2022; 40 of 2,422, 1.7%, in luad_mskcc_2023_met_organotropism; 5 of 232, 2.2%, in lung_nci_2022. In the founding series, 18 of 1,073 screened lung cancers, 1.7%, against 31 ALK-rearranged, 2.9% (Bergethon 2012)."}]},{"id":"rpl10","kind":"target","name":"RPL10","aka":["ribosomal protein L10","Large ribosomal subunit protein uL16","DXS648E","DXS648","FLJ23544","L10","uL16"],"tldr":"RPL10 (Large ribosomal subunit protein uL16) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target and an oncogene driver, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Multiple myeloma, Leukaemia and 1 more.","summary":"Component of the large ribosomal subunit. Plays a role in the formation of actively translating ribosomes. May play a role in the embryonic brain development.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.81, genetic association 0.00, somatic mutation 0.83, clinical 0.11). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Non-Hodgkin Lymphoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10298","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10298"},{"label":"UniProt P27635","url":"https://www.uniprot.org/uniprotkb/P27635/entry"},{"label":"NCBI Gene 6134","url":"https://www.ncbi.nlm.nih.gov/gene/6134"},{"label":"Ensembl ENSG00000147403","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147403"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","multiple-myeloma","leukaemia","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.19; IntOGen calls it an activating (Act) driver in 2 cohorts. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPL10","role":["drug-target","oncogene-driver"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10298","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10298","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P27635","url":"https://www.uniprot.org/uniprotkb/P27635/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147403","url":"https://platform.opentargets.org/target/ENSG00000147403/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.50, non-Hodgkin lymphoma 0.58, leukaemia 0.52 (GraphQL API, CC0)"},{"label":"IntOGen RPL10","url":"https://www.intogen.org/search?gene=RPL10","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RPL10: RNA low tissue specificity; high antibody staining in 40 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Multiple myeloma, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P27635","url":"https://www.uniprot.org/uniprotkb/P27635/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RPL10","url":"https://www.intogen.org/search?gene=RPL10","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RPL10 tissue","url":"https://www.proteinatlas.org/ENSG00000147403-RPL10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000147403 associations","url":"https://platform.opentargets.org/target/ENSG00000147403/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10298","ensembl":"ENSG00000147403","uniprot":"P27635","entrez":"6134","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dowdy S.F. et al, Nucleic Acids Res, 1991, \"The isolation and characterization of a novel cDNA demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1658743/","biology":"Component of the large ribosomal subunit. Plays a role in the formation of actively translating ribosomes. May play a role in the embryonic brain development. Location: Cytoplasm (UniProt). Locus Xq28 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.58 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (NHL)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Leukaemia: Open Targets association 0.52 with leukaemia (MONDO_0005059)","Acute lymphoblastic leukaemia: Open Targets association 0.50 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"oncogene","prevalence":[]},{"id":"rpl22","kind":"target","name":"RPL22","aka":["ribosomal protein L22","Large ribosomal subunit protein eL22","L22","eL22"],"tldr":"RPL22 (Large ribosomal subunit protein eL22) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target and a tumour suppressor, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma, Colorectal cancer and Gastric & gastro-oesophageal junction cancer.","summary":"Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.00, somatic mutation 0.83, clinical 0.11). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10315","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10315"},{"label":"UniProt P35268","url":"https://www.uniprot.org/uniprotkb/P35268/entry"},{"label":"NCBI Gene 6146","url":"https://www.ncbi.nlm.nih.gov/gene/6146"},{"label":"Ensembl ENSG00000116251","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116251"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","colorectal","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.11; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPL22","role":["drug-target","tumour-suppressor"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10315","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10315","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35268","url":"https://www.uniprot.org/uniprotkb/P35268/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000116251","url":"https://platform.opentargets.org/target/ENSG00000116251/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: colorectal cancer 0.53, gastric cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen RPL22","url":"https://www.intogen.org/search?gene=RPL22","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RPL22: RNA low tissue specificity; no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma, Colorectal cancer, Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P35268","url":"https://www.uniprot.org/uniprotkb/P35268/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RPL22","url":"https://www.intogen.org/search?gene=RPL22","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RPL22 tissue","url":"https://www.proteinatlas.org/ENSG00000116251-RPL22/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000116251 associations","url":"https://platform.opentargets.org/target/ENSG00000116251/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10315","ensembl":"ENSG00000116251","uniprot":"P35268","entrez":"6146","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Toczyski D.P.W. et al, EMBO J, 1991, \"EAP, a highly conserved cellular protein associated with Epstein-Barr virus small RNAs (EBERs)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1846807/","biology":"Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Location: Cytoplasm (UniProt). Locus 1p36.31 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.53 with gastric cancer (MONDO_0001056)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rpl5","kind":"target","name":"RPL5","aka":["ribosomal protein L5","Large ribosomal subunit protein uL18","L5","PPP1R135","uL18"],"tldr":"RPL5 (Large ribosomal subunit protein uL18) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver and a tumour suppressor, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Skin cancer and 4 more.","summary":"Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase centre (PTC), which catalyses the formation of peptide bonds, thereby polymerising the amino acids delivered by tRNAs into a polypeptide chain.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes clinical 0.11, genetic literature 0.76, literature 0.95, genetic association 0.37, somatic mutation 0.86, animal model 0.26). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Glioblastoma Multiforme, Lung Adenocarcinoma, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10360","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10360"},{"label":"UniProt P46777","url":"https://www.uniprot.org/uniprotkb/P46777/entry"},{"label":"NCBI Gene 6125","url":"https://www.ncbi.nlm.nih.gov/gene/6125"},{"label":"Ensembl ENSG00000122406","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122406"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","skin-cancer","melanoma","glioblastoma","nsclc","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.12; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPL5","role":["drug-target","oncogene-driver","tumour-suppressor"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10360","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10360","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P46777","url":"https://www.uniprot.org/uniprotkb/P46777/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000122406","url":"https://platform.opentargets.org/target/ENSG00000122406/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: melanoma 0.58, acute myeloid leukaemia 0.54, skin cancer 0.51, myeloproliferative neoplasm 0.54, leukaemia 0.61 (GraphQL API, CC0)"},{"label":"IntOGen RPL5","url":"https://www.intogen.org/search?gene=RPL5","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RPL5: RNA low tissue specificity; high antibody staining in 25 normal tissues; highest cancer staining melanoma (5 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Skin cancer (all types), Brain and spinal cord tumours (all types), Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (Diamond-Blackfan anemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P46777","url":"https://www.uniprot.org/uniprotkb/P46777/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RPL5","url":"https://www.intogen.org/search?gene=RPL5","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RPL5 tissue","url":"https://www.proteinatlas.org/ENSG00000122406-RPL5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000122406 associations","url":"https://platform.opentargets.org/target/ENSG00000122406/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10360","ensembl":"ENSG00000122406","uniprot":"P46777","entrez":"6125","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Qu L.H. et al, Nucleic Acids Res, 1994, \"U21, a novel small nucleolar RNA with a 13 nt. complementarity to 28S rRNA, is encoded in an intron of ribosomal protein L5 gene in chicken and mammals\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7937132/","biology":"Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase centre (PTC), which catalyses the formation of peptide bonds, thereby polymerising the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel. As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs. It also couples ribosome biogenesis to p53/TP53 activation. Location: Cytoplasm; Nucleus, nucleolus (UniProt). Locus 1p22.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.54 with myeloproliferative neoplasm (MONDO_0020076)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.58 with melanoma (MONDO_0005105); IntOGen driver in 2 cohorts (MEL)","Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"rps19","kind":"target","name":"RPS19","aka":["ribosomal protein S19","Small ribosomal subunit protein eS19","S19","eS19","LOH19CR1"],"tldr":"RPS19 (Small ribosomal subunit protein eS19) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for pre-rRNA processing and maturation of 40S ribosomal subunits.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes clinical 0.11, genetic literature 0.76, literature 0.64, genetic association 0.18, animal model 0.43).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10402","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10402"},{"label":"UniProt P39019","url":"https://www.uniprot.org/uniprotkb/P39019/entry"},{"label":"NCBI Gene 6223","url":"https://www.ncbi.nlm.nih.gov/gene/6223"},{"label":"Ensembl ENSG00000105372","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105372"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.11. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS19","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10402","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10402","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P39019","url":"https://www.uniprot.org/uniprotkb/P39019/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105372","url":"https://platform.opentargets.org/target/ENSG00000105372/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists RPS19 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RPS19: RNA low tissue specificity; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Diamond-Blackfan anemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RPS19 tissue","url":"https://www.proteinatlas.org/ENSG00000105372-RPS19/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105372 associations","url":"https://platform.opentargets.org/target/ENSG00000105372/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10402","ensembl":"ENSG00000105372","uniprot":"P39019","entrez":"6223","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kondoh et al, Cancer Res, 1992, \"Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1339304/","biology":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for pre-rRNA processing and maturation of 40S ribosomal subunits. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Location: Cytoplasm; Nucleus, nucleolus (UniProt). Locus 19q13.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"rps24","kind":"target","name":"RPS24","aka":["ribosomal protein S24","Small ribosomal subunit protein eS24","S24","eS24"],"tldr":"RPS24 (Small ribosomal subunit protein eS24) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for processing of pre-rRNA and maturation of 40S ribosomal subunits.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.86, genetic association 0.29, clinical 0.11, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10411","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10411"},{"label":"UniProt P62847","url":"https://www.uniprot.org/uniprotkb/P62847/entry"},{"label":"NCBI Gene 6229","url":"https://www.ncbi.nlm.nih.gov/gene/6229"},{"label":"Ensembl ENSG00000138326","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138326"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.11. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS24","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10411","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10411","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62847","url":"https://www.uniprot.org/uniprotkb/P62847/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138326","url":"https://platform.opentargets.org/target/ENSG00000138326/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists RPS24 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RPS24: RNA low tissue specificity; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Diamond-Blackfan anemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RPS24 tissue","url":"https://www.proteinatlas.org/ENSG00000138326-RPS24/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138326 associations","url":"https://platform.opentargets.org/target/ENSG00000138326/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10411","ensembl":"ENSG00000138326","uniprot":"P62847","entrez":"6229","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Brown S.J. et al, Gene, 1990, \"A cDNA encoding human ribosomal protein S24\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2210388/","biology":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for processing of pre-rRNA and maturation of 40S ribosomal subunits. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Location: Cytoplasm; Nucleus, nucleolus (UniProt). Locus 10q22.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"rps26","kind":"target","name":"RPS26","aka":["ribosomal protein S26","Small ribosomal subunit protein eS26","S26","eS26"],"tldr":"RPS26 (Small ribosomal subunit protein eS26) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.13, genetic association 0.27, genetic literature 0.76, clinical 0.11).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10414","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10414"},{"label":"UniProt P62854","url":"https://www.uniprot.org/uniprotkb/P62854/entry"},{"label":"NCBI Gene 6231","url":"https://www.ncbi.nlm.nih.gov/gene/6231"},{"label":"Ensembl ENSG00000197728","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197728"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.11. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS26","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10414","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10414","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62854","url":"https://www.uniprot.org/uniprotkb/P62854/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000197728","url":"https://platform.opentargets.org/target/ENSG00000197728/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RPS26: RNA low tissue specificity; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Diamond-Blackfan anemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RPS26 tissue","url":"https://www.proteinatlas.org/ENSG00000197728-RPS26/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197728 associations","url":"https://platform.opentargets.org/target/ENSG00000197728/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10414","ensembl":"ENSG00000197728","uniprot":"P62854","entrez":"6231","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vincent et al, Nucleic Acids Res, 1993, \"S26 ribosomal protein RNA: an invariant control for gene regulation experiments in eucaryotic cells and tissues\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8464749/","biology":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Location: Cytoplasm, cytosol; Cytoplasm; Rough endoplasmic reticulum (UniProt). Locus 12q13.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"rps27","kind":"target","name":"RPS27","aka":["ribosomal protein S27","Small ribosomal subunit protein eS27","MPS-1","MPS1","S27","eS27"],"tldr":"RPS27 (Small ribosomal subunit protein eS27) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for proper rRNA processing and maturation of 18S rRNAs.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.09, genetic literature 0.76, clinical 0.11).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10416","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10416"},{"label":"UniProt P42677","url":"https://www.uniprot.org/uniprotkb/P42677/entry"},{"label":"NCBI Gene 6232","url":"https://www.ncbi.nlm.nih.gov/gene/6232"},{"label":"Ensembl ENSG00000177954","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177954"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["mitotic-spindle-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.11. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS27","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10416","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10416","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42677","url":"https://www.uniprot.org/uniprotkb/P42677/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000177954","url":"https://platform.opentargets.org/target/ENSG00000177954/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RPS27: RNA low tissue specificity; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RPS27 tissue","url":"https://www.proteinatlas.org/ENSG00000177954-RPS27/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000177954 associations","url":"https://platform.opentargets.org/target/ENSG00000177954/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10416","ensembl":"ENSG00000177954","uniprot":"P42677","entrez":"6232","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fernandez-Pol J.A. et al, J. Biol. Chem, 1993, \"A growth factor-inducible gene encodes a novel nuclear protein with zinc finger structure\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8407955/","biology":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for proper rRNA processing and maturation of 18S rRNAs. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Location: Cytoplasm; Nucleus, nucleolus (UniProt). Locus 1q21.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"rps27a","kind":"target","name":"RPS27A","aka":["ribosomal protein S27a","Ubiquitin-ribosomal protein eS31 fusion protein","UBCEP80","Uba80","S27A","eS31"],"tldr":"RPS27A (Ubiquitin-ribosomal protein eS31 fusion protein) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signalling processes leading to activation of the transcription factor NF-kappa-B.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes clinical 0.11, genetic literature 0.76, affected pathway 0.83, literature 0.93, genetic association 0.05).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10417","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10417"},{"label":"UniProt P62979","url":"https://www.uniprot.org/uniprotkb/P62979/entry"},{"label":"NCBI Gene 6233","url":"https://www.ncbi.nlm.nih.gov/gene/6233"},{"label":"Ensembl ENSG00000143947","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143947"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.11. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS27A","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10417","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10417","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62979","url":"https://www.uniprot.org/uniprotkb/P62979/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143947","url":"https://platform.opentargets.org/target/ENSG00000143947/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"not-established","specificityNote":"Broadly expressed or essential: HPA lists RPS27A among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RPS27A: RNA low tissue specificity; high antibody staining in 29 normal tissues; highest cancer staining prostate cancer (6 of 7 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RPS27A tissue","url":"https://www.proteinatlas.org/ENSG00000143947-RPS27A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000143947 associations","url":"https://platform.opentargets.org/target/ENSG00000143947/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10417","ensembl":"ENSG00000143947","uniprot":"P62979","entrez":"6233","firstDescribed":1975,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schlesinger D.H. et al, Nature, 1975, \"Molecular conservation of 74 amino acid sequence of ubiquitin between cattle and man\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1128706/","biology":"Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signalling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signalling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signalling. Location: Cytoplasm; Nucleus, nucleolus; Nucleus (UniProt). Locus 2p16.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"rps29","kind":"target","name":"RPS29","aka":["ribosomal protein S29","Small ribosomal subunit protein uS14","S29","uS14"],"tldr":"RPS29 (Small ribosomal subunit protein uS14) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia and Myeloproliferative neoplasms.","summary":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.16, genetic association 0.31, clinical 0.11, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10419","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10419"},{"label":"UniProt P62273","url":"https://www.uniprot.org/uniprotkb/P62273/entry"},{"label":"NCBI Gene 6235","url":"https://www.ncbi.nlm.nih.gov/gene/6235"},{"label":"Ensembl ENSG00000213741","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000213741"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.12. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS29","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10419","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10419","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62273","url":"https://www.uniprot.org/uniprotkb/P62273/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000213741","url":"https://platform.opentargets.org/target/ENSG00000213741/associations","note":"association with cancer (MONDO_0004992) 0.53; per-cancer scores at or above 0.5: myeloproliferative neoplasm 0.52, leukaemia 0.53 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists RPS29 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RPS29: RNA low tissue specificity; high antibody staining in 12 normal tissues; highest cancer staining colorectal cancer (2 of 10 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (Diamond-Blackfan anemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RPS29 tissue","url":"https://www.proteinatlas.org/ENSG00000213741-RPS29/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000213741 associations","url":"https://platform.opentargets.org/target/ENSG00000213741/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10419","ensembl":"ENSG00000213741","uniprot":"P62273","entrez":"6235","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Frigerio J.-M. et al, Biochim. Biophys. Acta, 1995, \"Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7772601/","biology":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Location: Cytoplasm, cytosol; Cytoplasm; Rough endoplasmic reticulum (UniProt). Locus 14q21.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.53 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.52 with myeloproliferative neoplasm (MONDO_0020076)"],"targetClass":"other","prevalence":[]},{"id":"rps3a","kind":"target","name":"RPS3A","aka":["ribosomal protein S3A","Small ribosomal subunit protein eS1","S3A","eS1"],"tldr":"RPS3A (Small ribosomal subunit protein eS1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.","summary":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10421","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10421"},{"label":"UniProt P61247","url":"https://www.uniprot.org/uniprotkb/P61247/entry"},{"label":"NCBI Gene 6189","url":"https://www.ncbi.nlm.nih.gov/gene/6189"},{"label":"Ensembl ENSG00000145425","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145425"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS3A","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10421","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10421","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P61247","url":"https://www.uniprot.org/uniprotkb/P61247/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RPS3A","url":"https://www.intogen.org/search?gene=RPS3A","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10421","ensembl":"ENSG00000145425","uniprot":"P61247","entrez":"6189","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Metspalu et al, Gene, 1992, \"Human ribosomal protein S3a: cloning of the cDNA and primary structure of the protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1398113/","biology":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. May play a role during erythropoiesis through regulation of transcription factor DDIT3. Location: Cytoplasm; Nucleus; Nucleus, nucleolus (UniProt). Locus 4q31.3 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"oncogene","prevalence":[]},{"id":"rps6","kind":"target","name":"RPS6","aka":["ribosomal protein S6","Small ribosomal subunit protein eS6","S6","eS6"],"tldr":"RPS6 (Small ribosomal subunit protein eS6) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"Component of the 40S small ribosomal subunit. Plays an important role in controlling cell growth and proliferation through the selective translation of particular classes of mRNA. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Everolimus.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10429","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10429"},{"label":"UniProt P62753","url":"https://www.uniprot.org/uniprotkb/P62753/entry"},{"label":"NCBI Gene 6194","url":"https://www.ncbi.nlm.nih.gov/gene/6194"},{"label":"Ensembl ENSG00000137154","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137154"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS6","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10429","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10429","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62753","url":"https://www.uniprot.org/uniprotkb/P62753/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RPS6","url":"https://civicdb.org/features/5013","note":"1 evidence items, 0 assertions, 1 variants; diseases: Gastric Adenocarcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists RPS6 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RPS6: RNA low tissue specificity; high antibody staining in 23 normal tissues; highest cancer staining head and neck cancer (3 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RPS6 tissue","url":"https://www.proteinatlas.org/ENSG00000137154-RPS6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137154 associations","url":"https://platform.opentargets.org/target/ENSG00000137154/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10429","ensembl":"ENSG00000137154","uniprot":"P62753","entrez":"6194","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lott J.B. et al, Gene, 1988, \"Isolation and characterization of cloned cDNAs that code for human ribosomal protein S6\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2840355/","biology":"Component of the 40S small ribosomal subunit. Plays an important role in controlling cell growth and proliferation through the selective translation of particular classes of mRNA. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Location: Cytoplasm; Nucleus, nucleolus (UniProt). Locus 9p22.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"rps6ka3","kind":"target","name":"RPS6KA3","aka":["ribosomal protein S6 kinase A3","Ribosomal protein S6 kinase alpha-3","RSK2","HU-3","MRX19"],"tldr":"RPS6KA3 (Ribosomal protein S6 kinase alpha-3) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma.","summary":"Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signalling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signalling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.84). IntOGen calls it a driver in 4 cohorts (0 activating, 4 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10432","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10432"},{"label":"UniProt P51812","url":"https://www.uniprot.org/uniprotkb/P51812/entry"},{"label":"NCBI Gene 6197","url":"https://www.ncbi.nlm.nih.gov/gene/6197"},{"label":"Ensembl ENSG00000177189","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177189"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS6KA3","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10432","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10432","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51812","url":"https://www.uniprot.org/uniprotkb/P51812/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000177189","url":"https://platform.opentargets.org/target/ENSG00000177189/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: hepatocellular carcinoma 0.54 (GraphQL API, CC0)"},{"label":"IntOGen RPS6KA3","url":"https://www.intogen.org/search?gene=RPS6KA3","note":"driver in 4 cohorts (Act 0, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10432","ensembl":"ENSG00000177189","uniprot":"P51812","entrez":"6197","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Moller D.E. et al, Am. J. Physiol, 1994, \"Human rsk isoforms: cloning and characterization of tissue-specific expression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8141249/","biology":"Serine/threonine-protein kinase that acts downstream of ERK (MAPK1/ERK2 and MAPK3/ERK1) signalling and mediates mitogenic and stress-induced activation of the transcription factors CREB1, ETV1/ER81 and NR4A1/NUR77, regulates translation through RPS6 and EIF4B phosphorylation, and mediates cellular proliferation, survival, and differentiation by modulating mTOR signalling and repressing pro-apoptotic function of BAD and DAPK1. In fibroblast, is required for EGF-stimulated phosphorylation of CREB1 and histone H3 at 'Ser-10', which results in the subsequent transcriptional activation of several immediate-early genes. In response to mitogenic stimulation (EGF and PMA), phosphorylates and activates NR4A1/NUR77 and ETV1/ER81 transcription factors and the cofactor CREBBP. Upon insulin-derived signal, acts indirectly on the transcription regulation of several genes by phosphorylating GSK3B at 'Ser-9' and inhibiting its activity. Phosphorylates RPS6 in response to serum or EGF via an mTOR-independent mechanism and promotes translation initiation by facilitating assembly of the preinitiation complex. In response to insulin, phosphorylates EIF4B, enhancing EIF4B affinity for the EIF3 complex and stimulating cap-dependent translation. Location: Nucleus; Cytoplasm (UniProt). Locus Xp22.12 (HGNC).","whereFound":["Hepatocellular carcinoma: Open Targets association 0.54 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 4 cohorts (HCC)"],"targetClass":"kinase","prevalence":[]},{"id":"rps7","kind":"target","name":"RPS7","aka":["ribosomal protein S7","Small ribosomal subunit protein eS7","S7","eS7"],"tldr":"RPS7 (Small ribosomal subunit protein eS7) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for rRNA maturation.\n\nOpen Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes genetic literature 0.76, clinical 0.11, literature 0.90, genetic association 0.04, animal model 0.35).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10440","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10440"},{"label":"UniProt P62081","url":"https://www.uniprot.org/uniprotkb/P62081/entry"},{"label":"NCBI Gene 6201","url":"https://www.ncbi.nlm.nih.gov/gene/6201"},{"label":"Ensembl ENSG00000171863","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171863"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.11. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RPS7","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10440","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10440","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62081","url":"https://www.uniprot.org/uniprotkb/P62081/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000171863","url":"https://platform.opentargets.org/target/ENSG00000171863/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists RPS7 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RPS7: RNA low tissue specificity; high antibody staining in 31 normal tissues; highest cancer staining endometrial cancer (10 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (Diamond-Blackfan anemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RPS7 tissue","url":"https://www.proteinatlas.org/ENSG00000171863-RPS7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171863 associations","url":"https://platform.opentargets.org/target/ENSG00000171863/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10440","ensembl":"ENSG00000171863","uniprot":"P62081","entrez":"6201","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Annilo et al, Gene, 1995, \"The human ribosomal protein S7-encoding gene: isolation, structure and localization in 2p25\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8522193/","biology":"Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for rRNA maturation. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm; Nucleus, nucleolus (UniProt). Locus 2p25.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"rragc","kind":"target","name":"RRAGC","aka":["Ras related GTP binding C","Ras-related GTP-binding protein C","GTR2","FLJ13311"],"tldr":"RRAGC (Ras-related GTP-binding protein C) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-Hodgkin lymphoma.","summary":"Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signalling cascade. Forms heterodimeric Rag complexes with RagA/RRAGA or RagB/RRAGB and cycles between an inactive GTP-bound and an active GDP-bound form: RagC/RRAGC is in its active form when GDP-bound RagC/RRAGC forms a complex with GTP-bound RagA/RRAGA (or RagB/RRAGB) and in an inactive form when GTP-bound RagC/RRAGC heterodimerises with GDP-bound RagA/RRAGA (or RagB/RRAGB). In its GDP-bound active form, promotes the recruitment of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19902","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19902"},{"label":"UniProt Q9HB90","url":"https://www.uniprot.org/uniprotkb/Q9HB90/entry"},{"label":"NCBI Gene 64121","url":"https://www.ncbi.nlm.nih.gov/gene/64121"},{"label":"Ensembl ENSG00000116954","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116954"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RRAGC","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:19902","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19902","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HB90","url":"https://www.uniprot.org/uniprotkb/Q9HB90/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RRAGC","url":"https://www.intogen.org/search?gene=RRAGC","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:19902","ensembl":"ENSG00000116954","uniprot":"Q9HB90","entrez":"64121","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Horwitz M.S., Virology, 2001, \"Adenovirus immunoregulatory genes and their cellular targets\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11145883/","biology":"Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signalling cascade. Forms heterodimeric Rag complexes with RagA/RRAGA or RagB/RRAGB and cycles between an inactive GTP-bound and an active GDP-bound form: RagC/RRAGC is in its active form when GDP-bound RagC/RRAGC forms a complex with GTP-bound RagA/RRAGA (or RagB/RRAGB) and in an inactive form when GTP-bound RagC/RRAGC heterodimerises with GDP-bound RagA/RRAGA (or RagB/RRAGB). In its GDP-bound active form, promotes the recruitment of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the MTOR signalling cascade by amino acids. Also plays a central role in the non-canonical mTORC1 complex, which acts independently of RHEB and specifically mediates phosphorylation of MiT/TFE factors TFEB and TFE3: GDP-bound RagC/RRAGC mediates recruitment of MiT/TFE factors TFEB and TFE3. Location: Cytoplasm; Nucleus; Lysosome membrane (UniProt). Locus 1p34.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (NHL)"],"targetClass":"oncogene","prevalence":[]},{"id":"rras2","kind":"target","name":"RRAS2","aka":["RAS related 2","Ras-related protein R-Ras2","TC21"],"tldr":"RRAS2 (Ras-related protein R-Ras2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Ovarian cancer and Breast cancer.","summary":"GTP-binding protein with GTPase activity, involved in the regulation of MAPK signalling pathway and thereby controlling multiple cellular processes. Regulates craniofacial development.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.93, genetic association 0.00, somatic mutation 0.88, animal model 0.30). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17271","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17271"},{"label":"UniProt P62070","url":"https://www.uniprot.org/uniprotkb/P62070/entry"},{"label":"NCBI Gene 22800","url":"https://www.ncbi.nlm.nih.gov/gene/22800"},{"label":"Ensembl ENSG00000133818","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000133818"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["endometrial","ovarian","breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RRAS2","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17271","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17271","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62070","url":"https://www.uniprot.org/uniprotkb/P62070/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RRAS2","url":"https://civicdb.org/features/9054","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000133818","url":"https://platform.opentargets.org/target/ENSG00000133818/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: ovarian cancer 0.58, endometrial cancer 0.51, breast cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen RRAS2","url":"https://www.intogen.org/search?gene=RRAS2","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RRAS2: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining testis cancer (1 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Endometrial cancer, Ovarian cancer, Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P62070","url":"https://www.uniprot.org/uniprotkb/P62070/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RRAS2","url":"https://civicdb.org/features/9054","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen RRAS2","url":"https://www.intogen.org/search?gene=RRAS2","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RRAS2 tissue","url":"https://www.proteinatlas.org/ENSG00000133818-RRAS2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000133818 associations","url":"https://platform.opentargets.org/target/ENSG00000133818/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17271","ensembl":"ENSG00000133818","uniprot":"P62070","entrez":"22800","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Drivas G.T. et al, Mol. Cell. Biol, 1990, \"Characterization of four novel ras-like genes expressed in a human teratocarcinoma cell line\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2108320/","biology":"GTP-binding protein with GTPase activity, involved in the regulation of MAPK signalling pathway and thereby controlling multiple cellular processes. Regulates craniofacial development. Location: Cell membrane; Golgi apparatus membrane (UniProt). Locus 11p15.2 (HGNC).","whereFound":["Endometrial cancer: Open Targets association 0.51 with endometrial cancer (MONDO_0011962); IntOGen driver in 2 cohorts (UCEC)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)"],"targetClass":"oncogene","prevalence":[]},{"id":"rrm2","kind":"target","name":"RRM2","aka":["ribonucleotide reductase regulatory subunit M2","Ribonucleoside-diphosphate reductase subunit M2","FLJ25102","C2orf48"],"tldr":"RRM2 (Ribonucleoside-diphosphate reductase subunit M2) is an enzyme. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Lung cancer, Leukaemia, Breast cancer and 5 more.","summary":"Provides the precursors necessary for DNA synthesis. Catalyses the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signalling.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Gemcitabine. Open Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.00, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10452","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10452"},{"label":"UniProt P31350","url":"https://www.uniprot.org/uniprotkb/P31350/entry"},{"label":"NCBI Gene 6241","url":"https://www.ncbi.nlm.nih.gov/gene/6241"},{"label":"Ensembl ENSG00000171848","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171848"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["lung-cancer","leukaemia","breast-cancer","non-hodgkin-lymphoma","pancreatic","ovarian","myeloproliferative-neoplasms","mds"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RRM2","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10452","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10452","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31350","url":"https://www.uniprot.org/uniprotkb/P31350/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RRM2","url":"https://civicdb.org/features/5052","note":"1 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000171848","url":"https://platform.opentargets.org/target/ENSG00000171848/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.62, ovarian cancer 0.59, melanoma 0.58, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.60 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists RRM2 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA RRM2: RNA tissue enhanced (bone marrow 42 nTPM, lymphoid tissue 54 nTPM); no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Leukaemia, Breast cancer (all types), Lymphoma, Pancreatic ductal adenocarcinoma, Ovarian cancer, Myeloid neoplasms); Open Targets associates it with 11 specific cancer types at or above 0.5 (non-small cell lung carcinoma, B-cell chronic lymphocytic leukemia, melanoma, exocrine pancreatic carcinoma, ovarian carcinoma, breast carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RRM2 tissue","url":"https://www.proteinatlas.org/ENSG00000171848-RRM2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171848 associations","url":"https://platform.opentargets.org/target/ENSG00000171848/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10452","ensembl":"ENSG00000171848","uniprot":"P31350","entrez":"6241","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pavloff et al, DNA Seq, 1992, \"Sequence analysis of the large and small subunits of human ribonucleotide reductase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1627826/","biology":"Provides the precursors necessary for DNA synthesis. Catalyses the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signalling. Location: Cytoplasm; Nucleus (UniProt). Locus 2p25.1 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.62 with lung cancer (MONDO_0008903)","Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Ovarian cancer: Open Targets association 0.59 with ovarian cancer (MONDO_0008170)"],"targetClass":"enzyme","prevalence":[]},{"id":"rrm2b","kind":"target","name":"RRM2B","aka":["ribonucleotide reductase regulatory TP53 inducible subunit M2B","Ribonucleoside-diphosphate reductase subunit M2 B","p53R2"],"tldr":"RRM2B (Ribonucleoside-diphosphate reductase subunit M2 B) is an enzyme. The public catalogues list it as a drug target and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Non-Hodgkin lymphoma, Breast cancer and 5 more.","summary":"Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical centre required for catalysis.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.93, animal model 0.50, genetic association 0.07, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17296","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17296"},{"label":"UniProt Q7LG56","url":"https://www.uniprot.org/uniprotkb/Q7LG56/entry"},{"label":"NCBI Gene 50484","url":"https://www.ncbi.nlm.nih.gov/gene/50484"},{"label":"Ensembl ENSG00000048392","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000048392"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","breast-cancer","lung-cancer","ovarian","myeloproliferative-neoplasms","mds","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RRM2B","role":["drug-target","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:17296","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17296","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7LG56","url":"https://www.uniprot.org/uniprotkb/Q7LG56/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000048392","url":"https://platform.opentargets.org/target/ENSG00000048392/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, ovarian cancer 0.58, melanoma 0.57, acute lymphoblastic leukaemia 0.60, B-cell chronic lymphocytic leukaemia 0.59, non-Hodgkin lymphoma 0.61 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RRM2B: RNA low tissue specificity; high antibody staining in 19 normal tissues; highest cancer staining thyroid cancer (2 of 4 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Breast cancer (all types), Lung cancer (all types), Ovarian cancer, Myeloid neoplasms); Open Targets associates it with 11 specific cancer types at or above 0.5 (non-small cell lung carcinoma, B-cell chronic lymphocytic leukemia, exocrine pancreatic carcinoma, melanoma, ovarian carcinoma, breast cancer and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RRM2B tissue","url":"https://www.proteinatlas.org/ENSG00000048392-RRM2B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000048392 associations","url":"https://platform.opentargets.org/target/ENSG00000048392/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17296","ensembl":"ENSG00000048392","uniprot":"Q7LG56","entrez":"50484","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tanaka et al, Nature, 2000, \"A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10716435/","biology":"Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical centre required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. Location: Cytoplasm; Nucleus (UniProt). Locus 8q22.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Breast cancer: Open Targets association 0.60 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Ovarian cancer: Open Targets association 0.58 with ovarian cancer (MONDO_0008170)","Myeloproliferative neoplasms: Open Targets association 0.58 with myeloproliferative neoplasm (MONDO_0020076)"],"targetClass":"enzyme","prevalence":[]},{"id":"rrn3","kind":"target","name":"RRN3","aka":["RNA polymerase I transcription factor RRN3","RNA polymerase I-specific transcription initiation factor RRN3","DKFZp566E104","TIF-IA"],"tldr":"RRN3 (RNA polymerase I-specific transcription initiation factor RRN3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer.","summary":"Required for efficient transcription initiation by RNA polymerase I (Pol I). Required for the formation of the competent pre-initiation complex (PIC).\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30346","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30346"},{"label":"UniProt Q9NYV6","url":"https://www.uniprot.org/uniprotkb/Q9NYV6/entry"},{"label":"NCBI Gene 54700","url":"https://www.ncbi.nlm.nih.gov/gene/54700"},{"label":"Ensembl ENSG00000085721","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085721"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RRN3","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30346","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30346","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NYV6","url":"https://www.uniprot.org/uniprotkb/Q9NYV6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen RRN3","url":"https://www.intogen.org/search?gene=RRN3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30346","ensembl":"ENSG00000085721","uniprot":"Q9NYV6","entrez":"54700","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bodem et al, EMBO Rep, 2000, \"TIF-IA, the factor mediating growth-dependent control of ribosomal RNA synthesis, is the mammalian homolog of yeast Rrn3p\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11265758/","biology":"Required for efficient transcription initiation by RNA polymerase I (Pol I). Required for the formation of the competent pre-initiation complex (PIC). Location: Nucleus, nucleolus (UniProt). Locus 16p13.11 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"rsf1","kind":"target","name":"RSF1","aka":["remodeling and spacing factor 1","Remodeling and spacing factor 1","XAP8","RSF-1","p325","HBXAP"],"tldr":"RSF1 (Remodeling and spacing factor 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Regulatory subunit of the ATP-dependent RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair. Binds to core histones together with SMARCA5, and is required for the assembly of regular nucleosome arrays by the RSF-5 ISWI chromatin-remodeling complex. Directly stimulates the ATPase activity of SMARCA1 and SMARCA5 in the RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, respectively.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Tamoxifen.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18118","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18118"},{"label":"UniProt Q96T23","url":"https://www.uniprot.org/uniprotkb/Q96T23/entry"},{"label":"NCBI Gene 51773","url":"https://www.ncbi.nlm.nih.gov/gene/51773"},{"label":"Ensembl ENSG00000048649","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000048649"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RSF1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18118","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18118","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96T23","url":"https://www.uniprot.org/uniprotkb/Q96T23/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RSF1","url":"https://civicdb.org/features/12121","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA RSF1: RNA low tissue specificity; high antibody staining in 10 normal tissues; highest cancer staining ovarian cancer (5 of 9 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas RSF1 tissue","url":"https://www.proteinatlas.org/ENSG00000048649-RSF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000048649 associations","url":"https://platform.opentargets.org/target/ENSG00000048649/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18118","ensembl":"ENSG00000048649","uniprot":"Q96T23","entrez":"51773","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mao Y.M. et al, 1998.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96T23/entry","biology":"Regulatory subunit of the ATP-dependent RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair. Binds to core histones together with SMARCA5, and is required for the assembly of regular nucleosome arrays by the RSF-5 ISWI chromatin-remodeling complex. Directly stimulates the ATPase activity of SMARCA1 and SMARCA5 in the RSF-1 and RSF-5 ISWI chromatin-remodeling complexes, respectively. The RSF-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the RSF-5 ISWI chromatin-remodeling complex. The complexes do not have the ability to slide mononucleosomes to the centre of a DNA template. Facilitates transcription of hepatitis B virus (HBV) genes by the pX transcription activator. Location: Nucleus (UniProt). Locus 11q14.1 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"rspo2","kind":"target","name":"RSPO2","aka":["R-spondin 2","R-spondin-2","MGC35555"],"tldr":"RSPO2 (R-spondin-2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Breast cancer and Colorectal cancer.","summary":"Activator of the canonical Wnt signalling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signalling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signalling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signalling pathway.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.94, animal model 0.55, genetic association 0.62, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:28583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28583"},{"label":"UniProt Q6UXX9","url":"https://www.uniprot.org/uniprotkb/Q6UXX9/entry"},{"label":"NCBI Gene 340419","url":"https://www.ncbi.nlm.nih.gov/gene/340419"},{"label":"Ensembl ENSG00000147655","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147655"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","breast-cancer","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["wnt"],"terms":["gene-fusion"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: EIF3E-RSPO2 fusions occur with RSPO3 fusions in about 10% of colon tumours on transcriptome sequencing and are mutually exclusive with APC mutation (Seshagiri 2012); most targeted DNA panels do not bait RSPO2, so panel-based prevalence (3 of 7,237 in crc_msk_2026) is an undercount rather than a measurement."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RSPO2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:28583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:28583","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6UXX9","url":"https://www.uniprot.org/uniprotkb/Q6UXX9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147655","url":"https://platform.opentargets.org/target/ENSG00000147655/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.52, prostate cancer 0.58, breast cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen RSPO2","url":"https://www.intogen.org/search?gene=RSPO2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:28583","ensembl":"ENSG00000147655","uniprot":"Q6UXX9","entrez":"340419","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Clark H.F. et al, Genome Res, 2003, \"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12975309/","biology":"Activator of the canonical Wnt signalling pathway by acting as a ligand for LGR4-6 receptors. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signalling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signalling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signalling pathway. During embryonic development, plays a crucial role in limb specification, amplifying the Wnt signalling pathway independently of LGR4-6 receptors, possibly by acting as a direct antagonistic ligand to RNF43 and ZNRF3, hence governing the number of limbs an embryo should form. Location: Secreted (UniProt). Locus 8q23.1 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.58 with prostate cancer (MONDO_0008315)","Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"rspo3","kind":"target","name":"RSPO3","aka":["R-spondin 3","R-spondin-3","FLJ14440","THSD2"],"tldr":"RSPO3 (R-spondin-3) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Breast cancer and Lung cancer.","summary":"Activator of the canonical Wnt signalling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signalling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signalling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signalling pathway.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.17, somatic mutation 0.97, clinical 0.08).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20866","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20866"},{"label":"UniProt Q9BXY4","url":"https://www.uniprot.org/uniprotkb/Q9BXY4/entry"},{"label":"NCBI Gene 84870","url":"https://www.ncbi.nlm.nih.gov/gene/84870"},{"label":"Ensembl ENSG00000146374","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000146374"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","breast-cancer","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["wnt"],"terms":["gene-fusion"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-seshagiri-rspo-fusions-colon-nature-2012"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.08. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: PTPRK-RSPO3 fusions were found, with RSPO2 fusions, in 10% of more than 70 colon tumours by transcriptome sequencing, mutually exclusive with APC mutation and able to potentiate WNT signalling (Seshagiri 2012). DNA panels find far fewer (32 of 7,237, 0.44%, in crc_msk_2026) because intron coverage is partial. An RSPO fusion is an APC-wild-type way of switching WNT on, and it is the selection criterion for porcupine and RSPO3 inhibitors in trials."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RSPO3","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:20866","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20866","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BXY4","url":"https://www.uniprot.org/uniprotkb/Q9BXY4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000146374","url":"https://platform.opentargets.org/target/ENSG00000146374/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: colorectal cancer 0.53, breast cancer 0.51, lung cancer 0.51 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA RSPO3: RNA tissue enhanced (smooth muscle 45 nTPM); no normal tissue stained high; highest cancer staining lymphoma (2 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Breast cancer (all types), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas RSPO3 tissue","url":"https://www.proteinatlas.org/ENSG00000146374-RSPO3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000146374 associations","url":"https://platform.opentargets.org/target/ENSG00000146374/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20866","ensembl":"ENSG00000146374","uniprot":"Q9BXY4","entrez":"84870","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen J.-Z. et al, Mol. Biol. Rep, 2002, \"Cloning and identification of a cDNA that encodes a novel human protein with thrombospondin type I repeat domain, hPWTSR\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12463421/","biology":"Activator of the canonical Wnt signalling pathway by acting as a ligand for LGR4-6 receptors, which acts as a key regulator of angiogenesis. Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signalling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signalling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signalling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Acts as a key regulator of angiogenesis by controlling vascular stability and pruning: acts by activating the non-canonical Wnt signalling pathway in endothelial cells. Location: Secreted (UniProt). Locus 6q22.33 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Colorectal cancer: gene fusion (ptprk-rspo3, eif3e-rspo2) 0.4-10%"],"targetClass":"other","prevalence":[{"cancerId":"colorectal","pct":"0.4-10","measure":"Gene fusion (PTPRK-RSPO3, EIF3E-RSPO2)","source":"https://doi.org/10.1038/nature11282","note":"Recurrent RSPO2 and RSPO3 fusions occurred together in 10% of more than 70 colon tumours analysed by exome, transcriptome and copy number, and were mutually exclusive with APC mutation (Seshagiri 2012; coadread_genentech). Targeted panels find far fewer because they bait the RSPO3 intron but not RSPO2: cBioPortal structural variants give PTPRK-RSPO3 in 32 of 7,237 samples, 0.44%, in crc_msk_2026 (RSPO2 3 samples) and RSPO3-PTPRK in 3 of 1,516 in crc_eo_2020."}]},{"id":"rtel1","kind":"target","name":"RTEL1","aka":["regulator of telomere elongation helicase 1","Regulator of telomere elongation helicase 1","bK3184A7.3","DKFZP434C013","KIAA1088","C20orf41"],"tldr":"RTEL1 (Regulator of telomere elongation helicase 1) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Myeloproliferative neoplasms and Acute myeloid leukaemia.","summary":"A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.54, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15888","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15888"},{"label":"UniProt Q9NZ71","url":"https://www.uniprot.org/uniprotkb/Q9NZ71/entry"},{"label":"NCBI Gene 51750","url":"https://www.ncbi.nlm.nih.gov/gene/51750"},{"label":"Ensembl ENSG00000258366","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000258366"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RTEL1","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:15888","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15888","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZ71","url":"https://www.uniprot.org/uniprotkb/Q9NZ71/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000258366","url":"https://platform.opentargets.org/target/ENSG00000258366/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.55, myeloproliferative neoplasm 0.55, leukaemia 0.57 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:15888","ensembl":"ENSG00000258366","uniprot":"Q9NZ71","entrez":"51750","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kikuno et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10470851/","biology":"A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere. Location: Nucleus (UniProt). Locus 20q13.33 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.55 with myeloproliferative neoplasm (MONDO_0020076)","Acute myeloid leukaemia: Open Targets association 0.55 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"enzyme","prevalence":[]},{"id":"runx1","kind":"target","name":"RUNX1","aka":["RUNX family transcription factor 1","Runt-related transcription factor 1","PEBP2A2","AMLCR1","AML1","CBFA2"],"tldr":"RUNX1 (Runt-related transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.","summary":"Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters.\n\nCIViC holds 18 clinical evidence items and 0 assertions across 13 variants, naming Cytarabine. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.44, literature 1.00, genetic association 0.83, somatic mutation 0.94, animal model 0.80). IntOGen calls it a driver in 7 cohorts (1 activating, 6 loss-of-function), covering Adenoid Cystic Carcinoma, Acute Lymphoblastic Leukaemia, Acute Myeloid Leukaemia, Invasive Breast Carcinoma, Glioblastoma Multiforme.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10471","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471"},{"label":"UniProt Q01196","url":"https://www.uniprot.org/uniprotkb/Q01196/entry"},{"label":"NCBI Gene 861","url":"https://www.ncbi.nlm.nih.gov/gene/861"},{"label":"Ensembl ENSG00000159216","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159216"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","non-hodgkin-lymphoma","mds","breast-cancer","salivary-gland","ovarian","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["aml-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts; CIViC holds 18 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RUNX1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10471","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10471","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01196","url":"https://www.uniprot.org/uniprotkb/Q01196/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RUNX1","url":"https://civicdb.org/features/43","note":"18 evidence items, 0 assertions, 13 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Acute Lymphoblastic Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000159216","url":"https://platform.opentargets.org/target/ENSG00000159216/associations","note":"association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: ovarian cancer 0.51, acute myeloid leukaemia 0.78, acute lymphoblastic leukaemia 0.61, non-Hodgkin lymphoma 0.63, myeloproliferative neoplasm 0.83, breast cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen RUNX1","url":"https://www.intogen.org/search?gene=RUNX1","note":"driver in 7 cohorts (Act 1, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA RUNX1: RNA tissue enhanced (bone marrow 43 nTPM); blood lineage lineage enriched (granulocytes 24 nTPM); high antibody staining in 2 normal tissues. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Lymphoma, Breast cancer (all types), Salivary gland cancers, Ovarian cancer, Lung cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, hereditary thrombocytopenia and hematologic cancer predisposition syndrome, acute myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q01196","url":"https://www.uniprot.org/uniprotkb/Q01196/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene RUNX1","url":"https://civicdb.org/features/43","note":"18 evidence items, 0 assertions, 13 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Acute Lymphoblastic Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen RUNX1","url":"https://www.intogen.org/search?gene=RUNX1","note":"driver in 7 cohorts (Act 1, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas RUNX1 tissue","url":"https://www.proteinatlas.org/ENSG00000159216-RUNX1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000159216 associations","url":"https://platform.opentargets.org/target/ENSG00000159216/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10471","ensembl":"ENSG00000159216","uniprot":"Q01196","entrez":"861","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miyoshi et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"t(8;21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1720541/","biology":"Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. Essential for the development of normal haematopoiesis. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter. Inhibits KAT6B-dependent transcriptional activation. Location: Nucleus (UniProt). Locus 21q22.12 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.84 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.83 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.63 with non-Hodgkin lymphoma (MONDO_0018908)","Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Salivary gland cancers: IntOGen driver in 1 cohort (ACYC)"],"targetClass":"transcription","prevalence":[]},{"id":"runx1t1","kind":"target","name":"RUNX1T1","aka":["RUNX1 partner transcriptional co-repressor 1","MTG8","ZMYND2","AML1T1","CBFA2T1"],"tldr":"RUNX1T1 (RUNX1 partner transcriptional co-repressor 1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Lung cancer, Leukaemia, Hepatocellular carcinoma and 5 more.","summary":"Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Can repress transactivation mediated by TCF12.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.99, animal model 0.30, genetic association 0.32, somatic mutation 0.87). IntOGen calls it a driver in 7 cohorts (4 activating, 3 loss-of-function), covering Hepatocellular Carcinoma, Low-Grade Glioma, NOS, Lung Squamous Cell Carcinoma, Melanoma, Prostate Adenocarcinoma, Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1535","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535"},{"label":"UniProt Q06455","url":"https://www.uniprot.org/uniprotkb/Q06455/entry"},{"label":"NCBI Gene 862","url":"https://www.ncbi.nlm.nih.gov/gene/862"},{"label":"Ensembl ENSG00000079102","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000079102"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","leukaemia","hcc","prostate","skin-cancer","breast-cancer","myeloproliferative-neoplasms","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"RUNX1T1","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1535","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1535","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06455","url":"https://www.uniprot.org/uniprotkb/Q06455/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000079102","url":"https://platform.opentargets.org/target/ENSG00000079102/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: melanoma 0.59, acute myeloid leukaemia 0.51, non-Hodgkin lymphoma 0.52, skin cancer 0.55, myeloproliferative neoplasm 0.52, breast cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen RUNX1T1","url":"https://www.intogen.org/search?gene=RUNX1T1","note":"driver in 7 cohorts (Act 4, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:1535","ensembl":"ENSG00000079102","uniprot":"Q06455","entrez":"862","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Miyoshi et al, EMBO J, 1993, \"The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8334990/","biology":"Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Can repress transactivation mediated by TCF12. Acts as a negative regulator of adipogenesis. The AML1-MTG8/ETO fusion protein frequently found in leukaemic cells is involved in leukemogenesis and contributes to haematopoietic stem/progenitor cell self-renewal. Location: Nucleus (UniProt). Locus 8q21.3 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.58 with lung cancer (MONDO_0008903)","Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"s100b","kind":"target","name":"S100B","aka":["S100 calcium binding protein B","S100beta"],"tldr":"S100B (S100 calcium binding protein B) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Small zinc- and- and calcium-binding protein that is highly expressed in astrocytes and constitutes one of the most abundant soluble proteins in brain. Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonise the binding of both divalent cations, especially affecting high-affinity calcium-binding sites.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10500","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10500"},{"label":"UniProt P04271","url":"https://www.uniprot.org/uniprotkb/P04271/entry"},{"label":"NCBI Gene 6285","url":"https://www.ncbi.nlm.nih.gov/gene/6285"},{"label":"Ensembl ENSG00000160307","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160307"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Lipofibromatosis-like Neural Tumour."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"S100B","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10500","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10500","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P04271","url":"https://www.uniprot.org/uniprotkb/P04271/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene S100B","url":"https://civicdb.org/features/5087","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lipofibromatosis-like Neural Tumour (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA S100B: RNA tissue enriched (brain 4,757 nTPM); blood lineage lineage enriched (T-cells 362 nTPM); high antibody staining in 8 normal tissues; highest cancer staining breast cancer (6 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas S100B tissue","url":"https://www.proteinatlas.org/ENSG00000160307-S100B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000160307 associations","url":"https://platform.opentargets.org/target/ENSG00000160307/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10500","ensembl":"ENSG00000160307","uniprot":"P04271","entrez":"6285","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jensen et al, J. Neurochem, 1985, \"Characterization of human brain S100 protein fraction: amino acid sequence of S100 beta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/4031854/","biology":"Small zinc- and- and calcium-binding protein that is highly expressed in astrocytes and constitutes one of the most abundant soluble proteins in brain. Weakly binds calcium but binds zinc very tightly-distinct binding sites with different affinities exist for both ions on each monomer. Physiological concentrations of potassium ion antagonise the binding of both divalent cations, especially affecting high-affinity calcium-binding sites. Acts as a neurotrophic factor that promotes astrocytosis and axonal proliferation. Involved in innervation of thermogenic adipose tissue by acting as an adipocyte-derived neurotrophic factor that promotes sympathetic innervation of adipose tissue. Binds to and initiates the activation of STK38 by releasing autoinhibitory intramolecular interactions within the kinase. Location: Cytoplasm; Nucleus; Secreted (UniProt). Locus 21q22.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"s1pr1","kind":"target","name":"S1PR1","aka":["sphingosine-1-phosphate receptor 1","Sphingosine 1-phosphate receptor 1","edg-1","D1S3362","CD363","EDG1"],"tldr":"S1PR1 (Sphingosine 1-phosphate receptor 1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Mantle cell lymphoma.","summary":"G protein-coupled receptor for the bioactive lysosphingolipid sphingosine 1-phosphate (S1P) that seems to be coupled to the G(i) subclass of heteromeric G proteins. Signalling leads to the activation of RAC1, SRC, PTK2/FAK1 and MAP kinases. Plays an important role in cell migration, probably via its role in the reorganisation of the actin cytoskeleton and the formation of lamellipodia in response to stimuli that increase the activity of the sphingosine kinase SPHK1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3165","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3165"},{"label":"UniProt P21453","url":"https://www.uniprot.org/uniprotkb/P21453/entry"},{"label":"NCBI Gene 1901","url":"https://www.ncbi.nlm.nih.gov/gene/1901"},{"label":"Ensembl ENSG00000170989","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170989"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"S1PR1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3165","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3165","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P21453","url":"https://www.uniprot.org/uniprotkb/P21453/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene S1PR1","url":"https://civicdb.org/features/1603","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA S1PR1: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining thyroid cancer (3 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas S1PR1 tissue","url":"https://www.proteinatlas.org/ENSG00000170989-S1PR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000170989 associations","url":"https://platform.opentargets.org/target/ENSG00000170989/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3165","ensembl":"ENSG00000170989","uniprot":"P21453","entrez":"1901","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hla et al, J. Biol. Chem, 1990, \"An abundant transcript induced in differentiating human endothelial cells encodes a polypeptide with structural similarities to G-protein-coupled receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2160972/","biology":"G protein-coupled receptor for the bioactive lysosphingolipid sphingosine 1-phosphate (S1P) that seems to be coupled to the G(i) subclass of heteromeric G proteins. Signalling leads to the activation of RAC1, SRC, PTK2/FAK1 and MAP kinases. Plays an important role in cell migration, probably via its role in the reorganisation of the actin cytoskeleton and the formation of lamellipodia in response to stimuli that increase the activity of the sphingosine kinase SPHK1. Required for normal chemotaxis toward sphingosine 1-phosphate. Required for normal embryonic heart development and normal cardiac morphogenesis. Plays an important role in the regulation of sprouting angiogenesis and vascular maturation. Location: Cell membrane; Endosome; Membrane raft (UniProt). Locus 1p21.2 (HGNC).","whereFound":["Mantle cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"s1pr2","kind":"target","name":"S1PR2","aka":["sphingosine-1-phosphate receptor 2","Sphingosine 1-phosphate receptor 2","Gpcr13","H218","AGR16","EDG5","DFNB68"],"tldr":"S1PR2 (Sphingosine 1-phosphate receptor 2) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effects on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3169","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3169"},{"label":"UniProt O95136","url":"https://www.uniprot.org/uniprotkb/O95136/entry"},{"label":"NCBI Gene 9294","url":"https://www.ncbi.nlm.nih.gov/gene/9294"},{"label":"Ensembl ENSG00000267534","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000267534"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"S1PR2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3169","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3169","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95136","url":"https://www.uniprot.org/uniprotkb/O95136/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene S1PR2","url":"https://civicdb.org/features/7339","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA S1PR2: RNA low tissue specificity; blood lineage group enriched (granulocytes 45 nTPM, T-cells 12 nTPM); high antibody staining in 2 normal tissues; highest cancer staining renal cancer (1 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas S1PR2 tissue","url":"https://www.proteinatlas.org/ENSG00000267534-S1PR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000267534 associations","url":"https://platform.opentargets.org/target/ENSG00000267534/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3169","ensembl":"ENSG00000267534","uniprot":"O95136","entrez":"9294","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: An et al, J. Biol. Chem, 2000, \"Sphingosine 1-phosphate-induced cell proliferation, survival, and related signaling events mediated by G protein-coupled receptors Edg3 and Edg5\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10617617/","biology":"Receptor for the lysosphingolipid sphingosine 1-phosphate (S1P). S1P is a bioactive lysophospholipid that elicits diverse physiological effects on most types of cells and tissues. When expressed in rat HTC4 hepatoma cells, is capable of mediating S1P-induced cell proliferation and suppression of apoptosis. Receptor for the chemokine-like protein FAM19A5. Mediates the inhibitory effect of FAM19A5 on vascular smooth muscle cell proliferation and migration. In lymphoid follicles, couples the binding of S1P to the activation of GNA13 and downstream inhibition of AKT activation leading to suppression of germinal centre (GC) B cell growth and migration outside the GC niche. Location: Cell membrane (UniProt). Locus 19p13.2 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"sall4","kind":"target","name":"SALL4","aka":["spalt like transcription factor 4","Sal-like protein 4","dJ1112F19.1","ZNF797"],"tldr":"SALL4 (Sal-like protein 4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer, Colorectal cancer, Gastric & gastro-oesophageal junction cancer and 2 more.","summary":"Transcription factor with a key role in the maintenance and self-renewal of embryonic and haematopoietic stem cells.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.99, animal model 0.29, genetic association 0.41, somatic mutation 0.98). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15924","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15924"},{"label":"UniProt Q9UJQ4","url":"https://www.uniprot.org/uniprotkb/Q9UJQ4/entry"},{"label":"NCBI Gene 57167","url":"https://www.ncbi.nlm.nih.gov/gene/57167"},{"label":"Ensembl ENSG00000101115","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101115"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","colorectal","gastric","cll","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SALL4","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:15924","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15924","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UJQ4","url":"https://www.uniprot.org/uniprotkb/Q9UJQ4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000101115","url":"https://platform.opentargets.org/target/ENSG00000101115/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.55, gastric cancer 0.51, melanoma 0.55, skin cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen SALL4","url":"https://www.intogen.org/search?gene=SALL4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:15924","ensembl":"ENSG00000101115","uniprot":"Q9UJQ4","entrez":"57167","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deloukas et al, Nature, 2001, \"The DNA sequence and comparative analysis of human chromosome 20\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11780052/","biology":"Transcription factor with a key role in the maintenance and self-renewal of embryonic and haematopoietic stem cells. Location: Cytoplasm; Nucleus (UniProt). Locus 20q13.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)","Chronic lymphocytic leukaemia: IntOGen driver in 1 cohort (CLLSLL)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"samd9","kind":"target","name":"SAMD9","aka":["sterile alpha motif domain containing 9","Sterile alpha motif domain-containing protein 9","KIAA2004","FLJ20073","C7orf5"],"tldr":"SAMD9 (Sterile alpha motif domain-containing protein 9) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Myelodysplastic syndromes / neoplasms.","summary":"Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules. May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF signalling. Involved in the regulation of EGR1, in coordination with RGL2.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1348","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1348"},{"label":"UniProt Q5K651","url":"https://www.uniprot.org/uniprotkb/Q5K651/entry"},{"label":"NCBI Gene 54809","url":"https://www.ncbi.nlm.nih.gov/gene/54809"},{"label":"Ensembl ENSG00000205413","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000205413"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["mds"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SAMD9","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1348","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1348","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5K651","url":"https://www.uniprot.org/uniprotkb/Q5K651/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000205413","url":"https://platform.opentargets.org/target/ENSG00000205413/associations","note":"per-cancer scores at or above 0.5: myelodysplastic syndrome 0.66 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1348","ensembl":"ENSG00000205413","uniprot":"Q5K651","entrez":"54809","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, 2002, \"The nucleotide sequence of a long cDNA clone isolated from human\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q5K651/entry","biology":"Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules. May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF signalling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion. Location: Cytoplasm (UniProt). Locus 7q21.2 (HGNC).","whereFound":["Myelodysplastic syndromes / neoplasms: Open Targets association 0.66 with myelodysplastic syndrome (MONDO_0018881)"],"targetClass":"other","prevalence":[]},{"id":"samd9l","kind":"target","name":"SAMD9L","aka":["sterile alpha motif domain containing 9 like","Sterile alpha motif domain-containing protein 9-like","KIAA2005","FLJ39885","C7orf6"],"tldr":"SAMD9L (Sterile alpha motif domain-containing protein 9-like) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Myelodysplastic syndromes / neoplasms.","summary":"May be involved in endosome fusion. Mediates down-regulation of growth factor signalling via internalisation of growth factor receptors.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.79, animal model 0.58, genetic association 0.19, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1349","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1349"},{"label":"UniProt Q8IVG5","url":"https://www.uniprot.org/uniprotkb/Q8IVG5/entry"},{"label":"NCBI Gene 219285","url":"https://www.ncbi.nlm.nih.gov/gene/219285"},{"label":"Ensembl ENSG00000177409","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177409"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["mds"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SAMD9L","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1349","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1349","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IVG5","url":"https://www.uniprot.org/uniprotkb/Q8IVG5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000177409","url":"https://platform.opentargets.org/target/ENSG00000177409/associations","note":"association with cancer (MONDO_0004992) 0.51; per-cancer scores at or above 0.5: myelodysplastic syndrome 0.69 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:1349","ensembl":"ENSG00000177409","uniprot":"Q8IVG5","entrez":"219285","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, 2002, \"The nucleotide sequence of a long cDNA clone isolated from human\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8IVG5/entry","biology":"May be involved in endosome fusion. Mediates down-regulation of growth factor signalling via internalisation of growth factor receptors. Location: Early endosome; Mitochondrion (UniProt). Locus 7q21.2 (HGNC).","whereFound":["Myelodysplastic syndromes / neoplasms: Open Targets association 0.69 with myelodysplastic syndrome (MONDO_0018881)"],"targetClass":"other","prevalence":[]},{"id":"samhd1","kind":"target","name":"SAMHD1","aka":["SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","Deoxynucleoside triphosphate triphosphohydrolase SAMHD1","SBBI88","Mg11","HDDC1","MOP-5","AGS5"],"tldr":"SAMHD1 (Deoxynucleoside triphosphate triphosphohydrolase SAMHD1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.","summary":"Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks. Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15925","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15925"},{"label":"UniProt Q9Y3Z3","url":"https://www.uniprot.org/uniprotkb/Q9Y3Z3/entry"},{"label":"NCBI Gene 25939","url":"https://www.ncbi.nlm.nih.gov/gene/25939"},{"label":"Ensembl ENSG00000101347","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101347"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt keyword \"DNA repair\". Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SAMHD1","role":["tumour-suppressor","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:15925","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15925","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y3Z3","url":"https://www.uniprot.org/uniprotkb/Q9Y3Z3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SAMHD1","url":"https://www.intogen.org/search?gene=SAMHD1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:15925","ensembl":"ENSG00000101347","uniprot":"Q9Y3Z3","entrez":"25939","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takayama et al, 1998, \"Molecular and biological characterization of a novel monocyte protein, MOP-5\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9Y3Z3/entry","biology":"Protein that acts both as a host restriction factor involved in defense response to virus and as a regulator of DNA end resection at stalled replication forks. Has deoxynucleoside triphosphate (dNTPase) activity, which is required to restrict infection by viruses, such as HIV-1: dNTPase activity reduces cellular dNTP levels to levels too low for retroviral reverse transcription to occur, blocking early-stage virus replication in dendritic and other myeloid cells. Likewise, suppresses LINE-1 retrotransposon activity. Not able to restrict infection by HIV-2 virus; because restriction activity is counteracted by HIV-2 viral protein Vpx. In addition to virus restriction, dNTPase activity acts as a regulator of DNA precursor pools by regulating dNTP pools. Phosphorylation at Thr-592 acts as a switch to control dNTPase-dependent and -independent functions: it inhibits dNTPase activity and ability to restrict infection by viruses, while it promotes DNA end resection at stalled replication forks. Location: Nucleus; Chromosome (UniProt). Locus 20q11.23 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"sbds","kind":"target","name":"SBDS","aka":["SBDS ribosome maturation factor","Ribosome maturation protein SBDS","CGI-97","FLJ10917","SDO1"],"tldr":"SBDS (Ribosome maturation protein SBDS) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Leukaemia, Myeloproliferative neoplasms and Acute myeloid leukaemia.","summary":"Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.75, genetic association 0.00, somatic mutation 0.74, genetic literature 0.87).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19440","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19440"},{"label":"UniProt Q9Y3A5","url":"https://www.uniprot.org/uniprotkb/Q9Y3A5/entry"},{"label":"NCBI Gene 51119","url":"https://www.ncbi.nlm.nih.gov/gene/51119"},{"label":"Ensembl ENSG00000126524","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126524"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SBDS","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:19440","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19440","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y3A5","url":"https://www.uniprot.org/uniprotkb/Q9Y3A5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000126524","url":"https://platform.opentargets.org/target/ENSG00000126524/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.60, myeloproliferative neoplasm 0.60, leukaemia 0.62 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:19440","ensembl":"ENSG00000126524","uniprot":"Q9Y3A5","entrez":"51119","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lai C.-H. et al, Genome Res, 2000, \"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10810093/","biology":"Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation. Location: Cytoplasm; Nucleus, nucleolus; Nucleus, nucleoplasm; Cytoplasm, cytoskeleton, spindle (UniProt). Locus 7q11.21 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.62 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.60 with myeloproliferative neoplasm (MONDO_0020076)","Acute myeloid leukaemia: Open Targets association 0.60 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"other","prevalence":[]},{"id":"scn10a","kind":"target","name":"SCN10A","aka":["sodium voltage-gated channel alpha subunit 10","Sodium channel protein type 10 subunit alpha","Nav1.8","hPN3","PN3"],"tldr":"SCN10A (Sodium channel protein type 10 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.69, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10582"},{"label":"UniProt Q9Y5Y9","url":"https://www.uniprot.org/uniprotkb/Q9Y5Y9/entry"},{"label":"NCBI Gene 6336","url":"https://www.ncbi.nlm.nih.gov/gene/6336"},{"label":"Ensembl ENSG00000185313","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185313"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN10A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10582","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10582","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y5Y9","url":"https://www.uniprot.org/uniprotkb/Q9Y5Y9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000185313","url":"https://platform.opentargets.org/target/ENSG00000185313/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA not detected, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN10A: RNA not detected; no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN10A tissue","url":"https://www.proteinatlas.org/ENSG00000185313-SCN10A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185313 associations","url":"https://platform.opentargets.org/target/ENSG00000185313/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10582","ensembl":"ENSG00000185313","uniprot":"Q9Y5Y9","entrez":"6336","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rabert D.K. et al, Pain, 1998, \"A tetrodotoxin-resistant voltage-gated sodium channel from human dorsal root ganglia, hPN3/SCN10A\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9839820/","biology":"Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms. Location: Cell membrane (UniProt). Locus 3p22.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"scn11a","kind":"target","name":"SCN11A","aka":["sodium voltage-gated channel alpha subunit 11","Sodium channel protein type 11 subunit alpha","Nav1.9","NaN","SNS-2","SCN12A"],"tldr":"SCN11A (Sodium channel protein type 11 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Sodium channel mediating the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Involved in membrane depolarisation during action potential in nociceptors which function as key relay stations for the electrical transmission of pain signals from the periphery to the central nervous system.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.20, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10583"},{"label":"UniProt Q9UI33","url":"https://www.uniprot.org/uniprotkb/Q9UI33/entry"},{"label":"NCBI Gene 11280","url":"https://www.ncbi.nlm.nih.gov/gene/11280"},{"label":"Ensembl ENSG00000168356","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168356"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN11A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10583","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10583","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UI33","url":"https://www.uniprot.org/uniprotkb/Q9UI33/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000168356","url":"https://platform.opentargets.org/target/ENSG00000168356/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN11A: RNA tissue enhanced (lymphoid tissue 3 nTPM, placenta 2 nTPM, urinary bladder 2 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (1 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN11A tissue","url":"https://www.proteinatlas.org/ENSG00000168356-SCN11A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000168356 associations","url":"https://platform.opentargets.org/target/ENSG00000168356/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10583","ensembl":"ENSG00000168356","uniprot":"Q9UI33","entrez":"11280","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dib-Hajj S.D. et al, FEBS Lett, 1999, \"Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10580103/","biology":"Sodium channel mediating the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Involved in membrane depolarisation during action potential in nociceptors which function as key relay stations for the electrical transmission of pain signals from the periphery to the central nervous system. Also involved in rapid BDNF-evoked neuronal depolarisation. Location: Cell membrane (UniProt). Locus 3p22.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"scn1a","kind":"target","name":"SCN1A","aka":["sodium voltage-gated channel alpha subunit 1","Sodium channel protein type 1 subunit alpha","Nav1.1","GEFSP2","HBSCI","NAC1","SCN1","FEB3"],"tldr":"SCN1A (Sodium channel protein type 1 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.39, animal model 0.37, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585"},{"label":"UniProt P35498","url":"https://www.uniprot.org/uniprotkb/P35498/entry"},{"label":"NCBI Gene 6323","url":"https://www.ncbi.nlm.nih.gov/gene/6323"},{"label":"Ensembl ENSG00000144285","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000144285"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN1A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10585","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10585","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35498","url":"https://www.uniprot.org/uniprotkb/P35498/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000144285","url":"https://platform.opentargets.org/target/ENSG00000144285/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN1A: RNA tissue enhanced (brain 8 nTPM, retina 3 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN1A tissue","url":"https://www.proteinatlas.org/ENSG00000144285-SCN1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000144285 associations","url":"https://platform.opentargets.org/target/ENSG00000144285/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10585","ensembl":"ENSG00000144285","uniprot":"P35498","entrez":"6323","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lu C.-M. et al, FEBS Lett, 1992, \"Differential expression of two sodium channel subtypes in human brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1317301/","biology":"Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na(+) ions provokes membrane depolarisation, initiating the propagation of electrical signals throughout cells and tissues. By regulating the excitability of neurons, ensures that they respond appropriately to synaptic inputs, maintaining the balance between excitation and inhibition in brain neural circuits. Nav1.1 plays a role in controlling the excitability and action potential propagation from somatosensory neurons, thereby contributing to the sensory perception of mechanically-induced pain. Location: Cell membrane (UniProt). Locus 2q24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"scn2a","kind":"target","name":"SCN2A","aka":["sodium voltage-gated channel alpha subunit 2","Sodium channel protein type 2 subunit alpha","Nav1.2","HBSCII","HBSCI","SCN2A1","SCN2A2"],"tldr":"SCN2A (Sodium channel protein type 2 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.41, genetic association 0.21, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10588","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10588"},{"label":"UniProt Q99250","url":"https://www.uniprot.org/uniprotkb/Q99250/entry"},{"label":"NCBI Gene 6326","url":"https://www.ncbi.nlm.nih.gov/gene/6326"},{"label":"Ensembl ENSG00000136531","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136531"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN2A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10588","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10588","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99250","url":"https://www.uniprot.org/uniprotkb/Q99250/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136531","url":"https://platform.opentargets.org/target/ENSG00000136531/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN2A: RNA tissue enriched (brain 67 nTPM); high antibody staining in 1 normal tissue. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN2A tissue","url":"https://www.proteinatlas.org/ENSG00000136531-SCN2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136531 associations","url":"https://platform.opentargets.org/target/ENSG00000136531/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10588","ensembl":"ENSG00000136531","uniprot":"Q99250","entrez":"6326","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Han et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1846440/","biology":"Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory. Location: Cell membrane (UniProt). Locus 2q24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"scn3a","kind":"target","name":"SCN3A","aka":["sodium voltage-gated channel alpha subunit 3","Sodium channel protein type 3 subunit alpha","Nav1.3"],"tldr":"SCN3A (Sodium channel protein type 3 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of Nav1.3, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.14, genetic association 0.48, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10590"},{"label":"UniProt Q9NY46","url":"https://www.uniprot.org/uniprotkb/Q9NY46/entry"},{"label":"NCBI Gene 6328","url":"https://www.ncbi.nlm.nih.gov/gene/6328"},{"label":"Ensembl ENSG00000153253","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000153253"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN3A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10590","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10590","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NY46","url":"https://www.uniprot.org/uniprotkb/Q9NY46/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000153253","url":"https://platform.opentargets.org/target/ENSG00000153253/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN3A: RNA tissue enhanced (brain 9 nTPM, lymphoid tissue 4 nTPM); blood lineage lineage enriched (B-cells 15 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (1 of 3 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN3A tissue","url":"https://www.proteinatlas.org/ENSG00000153253-SCN3A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000153253 associations","url":"https://platform.opentargets.org/target/ENSG00000153253/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10590","ensembl":"ENSG00000153253","uniprot":"Q9NY46","entrez":"6328","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Malo M.S. et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8159690/","biology":"Pore-forming subunit of Nav1.3, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarisation, initiating the propagation of electrical signals throughout cells and tissues. In some secretory cell types, it also participates in cell excitability through membrane depolarisation and regulates cells responsiveness to stimuli triggering secretion. For instance, it controls the release of serotonin/5-hydroxytryptamine by enterochromaffin cells and is required for both glucagon- and glucose-induced insulin secretion in pancreatic endocrine cells. Location: Cell membrane; Basal cell membrane (UniProt). Locus 2q24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"scn4a","kind":"target","name":"SCN4A","aka":["sodium voltage-gated channel alpha subunit 4","Sodium channel protein type 4 subunit alpha","Nav1.4","SkM1","HYKPP"],"tldr":"SCN4A (Sodium channel protein type 4 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.74, animal model 0.68, genetic association 0.09, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591"},{"label":"UniProt P35499","url":"https://www.uniprot.org/uniprotkb/P35499/entry"},{"label":"NCBI Gene 6329","url":"https://www.ncbi.nlm.nih.gov/gene/6329"},{"label":"Ensembl ENSG00000007314","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000007314"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN4A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10591","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10591","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35499","url":"https://www.uniprot.org/uniprotkb/P35499/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000007314","url":"https://platform.opentargets.org/target/ENSG00000007314/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN4A: RNA group enriched (skeletal muscle 129 nTPM, tongue 50 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN4A tissue","url":"https://www.proteinatlas.org/ENSG00000007314-SCN4A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000007314 associations","url":"https://platform.opentargets.org/target/ENSG00000007314/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10591","ensembl":"ENSG00000007314","uniprot":"P35499","entrez":"6329","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: George A.L. Jr. et al, Ann. Neurol, 1992, \"Primary structure of the adult human skeletal muscle voltage-dependent sodium channel\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1315496/","biology":"Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarisation, initiating the propagation of electrical signals throughout cells and tissues. Highly expressed in skeletal muscles, Nav1.4 generates the action potential crucial for muscle contraction. Location: Cell membrane (UniProt). Locus 17q23.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"scn5a","kind":"target","name":"SCN5A","aka":["sodium voltage-gated channel alpha subunit 5","Sodium channel protein type 5 subunit alpha","Nav1.5","LQT3","HB1","PFHB1","HB2","HH1","SSS1","CDCD2","CMPD2","CMD1E"],"tldr":"SCN5A (Sodium channel protein type 5 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.95, animal model 0.38, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10593","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10593"},{"label":"UniProt Q14524","url":"https://www.uniprot.org/uniprotkb/Q14524/entry"},{"label":"NCBI Gene 6331","url":"https://www.ncbi.nlm.nih.gov/gene/6331"},{"label":"Ensembl ENSG00000183873","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183873"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN5A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10593","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10593","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14524","url":"https://www.uniprot.org/uniprotkb/Q14524/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000183873","url":"https://platform.opentargets.org/target/ENSG00000183873/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN5A: RNA tissue enriched (heart muscle 50 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN5A tissue","url":"https://www.proteinatlas.org/ENSG00000183873-SCN5A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183873 associations","url":"https://platform.opentargets.org/target/ENSG00000183873/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10593","ensembl":"ENSG00000183873","uniprot":"Q14524","entrez":"6331","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gellens M.E. et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1309946/","biology":"Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na(+) ions provokes membrane depolarisation, initiating the propagation of electrical signals throughout cells and tissues. Nav1.5 is the predominant sodium channel expressed in myocardial cells and it is responsible for the initial upstroke of the action potential in cardiac myocytes, thereby initiating the heartbeat. Required for normal electrical conduction including formation of the infranodal ventricular conduction system and normal action potential configuration, as a result of its interaction with XIRP2. Location: Cell membrane; Cytoplasm, perinuclear region; Cell membrane, sarcolemma, T-tubule; Cell junction (UniProt). Locus 3p22.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"scn7a","kind":"target","name":"SCN7A","aka":["sodium voltage-gated channel alpha subunit 7","Sodium channel protein type 7 subunit alpha","Nav2.1","Nav2.2","NaG","SCN6A"],"tldr":"SCN7A (Sodium channel protein type 7 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Sodium leak channel functioning as an osmosensor regulating sodium ion levels in various tissues and organs. While most sodium channels are voltage-gated, SCN7A is not and lets sodium flow through membrane along its concentration gradient. In glial cells of the central nervous system, senses body-fluid sodium levels and controls salt intake behaviour as well as voluntary water intake through activation of nearby neurons to maintain appropriate sodium levels in the body.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.70, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10594","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10594"},{"label":"UniProt Q01118","url":"https://www.uniprot.org/uniprotkb/Q01118/entry"},{"label":"NCBI Gene 6332","url":"https://www.ncbi.nlm.nih.gov/gene/6332"},{"label":"Ensembl ENSG00000136546","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136546"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN7A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10594","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10594","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01118","url":"https://www.uniprot.org/uniprotkb/Q01118/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136546","url":"https://platform.opentargets.org/target/ENSG00000136546/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN7A: RNA tissue enhanced (intestine 33 nTPM, ovary 37 nTPM); no normal tissue stained high; highest cancer staining cervical cancer (1 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN7A tissue","url":"https://www.proteinatlas.org/ENSG00000136546-SCN7A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136546 associations","url":"https://platform.opentargets.org/target/ENSG00000136546/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10594","ensembl":"ENSG00000136546","uniprot":"Q01118","entrez":"6332","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: George A.L. Jr. et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1317577/","biology":"Sodium leak channel functioning as an osmosensor regulating sodium ion levels in various tissues and organs. While most sodium channels are voltage-gated, SCN7A is not and lets sodium flow through membrane along its concentration gradient. In glial cells of the central nervous system, senses body-fluid sodium levels and controls salt intake behaviour as well as voluntary water intake through activation of nearby neurons to maintain appropriate sodium levels in the body. By mediating sodium influx into keratinocytes, also plays a role in skin barrier homeostasis. Location: Cell membrane (UniProt). Locus 2q24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"scn8a","kind":"target","name":"SCN8A","aka":["sodium voltage-gated channel alpha subunit 8","Sodium channel protein type 8 subunit alpha","Nav1.6","NaCh6","PN4","CerIII"],"tldr":"SCN8A (Sodium channel protein type 8 subunit alpha) is a gene. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Non-small-cell lung cancer.","summary":"Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradient. Contributes to neuronal excitability by regulating action potential threshold and propagation. More specifically expressed in non-neuronal cells, could play a role in sodium release from intracellular compartments and participate in the control of podosomes formation and macrophages adhesion and movement.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Pembrolizumab. Open Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.91, animal model 0.57, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10596","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10596"},{"label":"UniProt Q9UQD0","url":"https://www.uniprot.org/uniprotkb/Q9UQD0/entry"},{"label":"NCBI Gene 6334","url":"https://www.ncbi.nlm.nih.gov/gene/6334"},{"label":"Ensembl ENSG00000196876","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196876"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN8A","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10596","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10596","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UQD0","url":"https://www.uniprot.org/uniprotkb/Q9UQD0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SCN8A","url":"https://civicdb.org/features/5128","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Adenocarcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000196876","url":"https://platform.opentargets.org/target/ENSG00000196876/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN8A: RNA group enriched (brain 17 nTPM, pituitary gland 6 nTPM, retina 7 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN8A tissue","url":"https://www.proteinatlas.org/ENSG00000196876-SCN8A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000196876 associations","url":"https://platform.opentargets.org/target/ENSG00000196876/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10596","ensembl":"ENSG00000196876","uniprot":"Q9UQD0","entrez":"6334","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Plummer N.W. et al, J. Biol. Chem, 1997, \"Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9295353/","biology":"Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradient. Contributes to neuronal excitability by regulating action potential threshold and propagation. More specifically expressed in non-neuronal cells, could play a role in sodium release from intracellular compartments and participate in the control of podosomes formation and macrophages adhesion and movement. Location: Cell membrane; Cell projection, axon; Cytoplasmic vesicle; Cell projection, podosome (UniProt). Locus 12q13.13 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"scn9a","kind":"target","name":"SCN9A","aka":["sodium voltage-gated channel alpha subunit 9","Sodium channel protein type 9 subunit alpha","Nav1.7","PN1","NE-NA"],"tldr":"SCN9A (Sodium channel protein type 9 subunit alpha) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Pore-forming subunit of Nav1.7, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10597","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10597"},{"label":"UniProt Q15858","url":"https://www.uniprot.org/uniprotkb/Q15858/entry"},{"label":"NCBI Gene 6335","url":"https://www.ncbi.nlm.nih.gov/gene/6335"},{"label":"Ensembl ENSG00000169432","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169432"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SCN9A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10597","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10597","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15858","url":"https://www.uniprot.org/uniprotkb/Q15858/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000169432","url":"https://platform.opentargets.org/target/ENSG00000169432/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SCN9A: RNA tissue enhanced (brain 6 nTPM); blood lineage lineage enriched (dendritic cells 24 nTPM); no normal tissue stained high; highest cancer staining thyroid cancer (1 of 3 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SCN9A tissue","url":"https://www.proteinatlas.org/ENSG00000169432-SCN9A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169432 associations","url":"https://platform.opentargets.org/target/ENSG00000169432/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10597","ensembl":"ENSG00000169432","uniprot":"Q15858","entrez":"6335","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Klugbauer et al, EMBO J, 1995, \"Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7720699/","biology":"Pore-forming subunit of Nav1.7, a voltage-gated sodium (Nav) channel that directly mediates the depolarising phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na(+) ions provokes membrane depolarisation, initiating the propagation of electrical signals throughout cells and tissues. Nav1.7 plays a crucial role in controlling the excitability and action potential propagation from nociceptor neurons, thereby contributing to the sensory perception of pain. Location: Cell membrane; Cell projection, neuron projection; Cell projection, axon (UniProt). Locus 2q24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"sdc4","kind":"target","name":"SDC4","aka":["syndecan 4","Syndecan-4","SYND4","amphiglycan","ryudocan"],"tldr":"SDC4 (Syndecan-4) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Lung cancer and Non-small-cell lung cancer.","summary":"Cell surface proteoglycan which regulates exosome biogenesis in concert with SDCBP and PDCD6IP.\n\nOpen Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes clinical 0.89, literature 0.94, genetic association 0.00, somatic mutation 0.93, animal model 0.54).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10661","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10661"},{"label":"UniProt P31431","url":"https://www.uniprot.org/uniprotkb/P31431/entry"},{"label":"NCBI Gene 6385","url":"https://www.ncbi.nlm.nih.gov/gene/6385"},{"label":"Ensembl ENSG00000124145","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124145"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.89. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SDC4","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10661","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10661","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31431","url":"https://www.uniprot.org/uniprotkb/P31431/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000124145","url":"https://platform.opentargets.org/target/ENSG00000124145/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.66, lung cancer 0.67 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SDC4: RNA tissue enhanced (liver 384 nTPM); high antibody staining in 25 normal tissues; highest cancer staining ovarian cancer (9 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (non-small cell lung carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SDC4 tissue","url":"https://www.proteinatlas.org/ENSG00000124145-SDC4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000124145 associations","url":"https://platform.opentargets.org/target/ENSG00000124145/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10661","ensembl":"ENSG00000124145","uniprot":"P31431","entrez":"6385","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: David et al, J. Cell Biol, 1992, \"Molecular cloning of amphiglycan, a novel integral membrane heparan sulfate proteoglycan expressed by epithelial and fibroblastic cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1500433/","biology":"Cell surface proteoglycan which regulates exosome biogenesis in concert with SDCBP and PDCD6IP. Location: Membrane; Secreted (UniProt). Locus 20q13.12 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.67 with lung cancer (MONDO_0008903)","Non-small-cell lung cancer: Open Targets association 0.66 with non-small cell lung carcinoma (MONDO_0005233)"],"targetClass":"other","prevalence":[]},{"id":"sdcbp","kind":"target","name":"SDCBP","aka":["syndecan binding protein","Syntenin-1","MDA-9","SDCBP1"],"tldr":"SDCBP (Syntenin-1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Head and neck squamous cell carcinoma.","summary":"Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis. Positively regulates TGFB1-mediated SMAD2/3 activation and TGFB1-induced epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signalling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalisation and degradation of TGFR1.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Head and Neck Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10662","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10662"},{"label":"UniProt O00560","url":"https://www.uniprot.org/uniprotkb/O00560/entry"},{"label":"NCBI Gene 6386","url":"https://www.ncbi.nlm.nih.gov/gene/6386"},{"label":"Ensembl ENSG00000137575","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137575"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SDCBP","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10662","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10662","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00560","url":"https://www.uniprot.org/uniprotkb/O00560/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SDCBP","url":"https://www.intogen.org/search?gene=SDCBP","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10662","ensembl":"ENSG00000137575","uniprot":"O00560","entrez":"6386","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lin J.J. et al, Mol. Cell. Differ, 1996, \"Characterization of a novel melanoma differentiation associated gene, mda-9, that is down-regulated during terminal cell differentiation\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/O00560/entry","biology":"Multifunctional adapter protein involved in diverse array of functions including trafficking of transmembrane proteins, neuro and immunomodulation, exosome biogenesis, and tumorigenesis. Positively regulates TGFB1-mediated SMAD2/3 activation and TGFB1-induced epithelial-to-mesenchymal transition (EMT) and cell migration in various cell types. May increase TGFB1 signalling by enhancing cell-surface expression of TGFR1 by preventing the interaction between TGFR1 and CAV1 and subsequent CAV1-dependent internalisation and degradation of TGFR1. In concert with SDC1/4 and PDCD6IP, regulates exosome biogenesis. Regulates migration, growth, proliferation, and cell cycle progression in a variety of cancer types. In adherens junctions may function to couple syndecans to cytoskeletal proteins or signalling components. Location: Cell junction, focal adhesion; Cell junction, adherens junction; Cell membrane; Endoplasmic reticulum membrane (UniProt). Locus 8q12.1 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"sdccag8","kind":"target","name":"SDCCAG8","aka":["SHH signaling and ciliogenesis regulator SDCCAG8","Serologically defined colon cancer antigen 8","NY-CO-8","CCCAP","SLSN7","NPHP10","BBS16"],"tldr":"SDCCAG8 (Serologically defined colon cancer antigen 8) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Thyroid cancer.","summary":"Plays a role in the establishment of cell polarity and epithelial lumen formation. Also plays an essential role in ciliogenesis and subsequent Hedgehog signalling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localisation which is critical for ciliogenesis.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.68, animal model 0.44, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10671","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10671"},{"label":"UniProt Q86SQ7","url":"https://www.uniprot.org/uniprotkb/Q86SQ7/entry"},{"label":"NCBI Gene 10806","url":"https://www.ncbi.nlm.nih.gov/gene/10806"},{"label":"Ensembl ENSG00000054282","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000054282"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SDCCAG8","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10671","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10671","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86SQ7","url":"https://www.uniprot.org/uniprotkb/Q86SQ7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000054282","url":"https://platform.opentargets.org/target/ENSG00000054282/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: thyroid cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10671","ensembl":"ENSG00000054282","uniprot":"Q86SQ7","entrez":"10806","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Scanlan M.J. et al, Int. J. Cancer, 1998, \"Characterization of human colon cancer antigens recognized by autologous antibodies\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9610721/","biology":"Plays a role in the establishment of cell polarity and epithelial lumen formation. Also plays an essential role in ciliogenesis and subsequent Hedgehog signalling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localisation which is critical for ciliogenesis. Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytoskeleton, cilium basal body; Cell junction (UniProt). Locus 1q43-q44 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.53 with thyroid cancer (MONDO_0002108)"],"targetClass":"other","prevalence":[]},{"id":"sdha","kind":"target","name":"SDHA","aka":["succinate dehydrogenase complex flavoprotein subunit A","Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial","SDH2"],"tldr":"SDHA (Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Neuroendocrine tumours, Renal cell carcinoma, Hepatocellular carcinoma and 5 more.","summary":"Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). SDH also oxidises malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate. Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerised into keto-oxaloacetate.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.81, somatic mutation 0.86, genetic literature 0.81). IntOGen calls it a driver in 3 cohorts (2 activating, 0 loss-of-function), covering Chromophobe Renal Cell Carcinoma, Hepatocellular Carcinoma, Low-Grade Glioma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10680","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10680"},{"label":"UniProt P31040","url":"https://www.uniprot.org/uniprotkb/P31040/entry"},{"label":"NCBI Gene 6389","url":"https://www.ncbi.nlm.nih.gov/gene/6389"},{"label":"Ensembl ENSG00000073578","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000073578"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["neuroendocrine","rcc","hcc","lung-cancer","sarcoma","colorectal","ovarian","gist"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Adrenal Gland Pheochromocytoma; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SDHA","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10680","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10680","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31040","url":"https://www.uniprot.org/uniprotkb/P31040/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SDHA","url":"https://civicdb.org/features/5176","note":"1 evidence items, 0 assertions, 2 variants; diseases: Adrenal Gland Pheochromocytoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000073578","url":"https://platform.opentargets.org/target/ENSG00000073578/associations","note":"association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: colorectal cancer 0.51, ovarian cancer 0.50, sarcoma 0.52, neuroendocrine neoplasm 0.84, gastrointestinal stromal tumour 0.74, lung cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen SDHA","url":"https://www.intogen.org/search?gene=SDHA","note":"driver in 3 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SDHA: RNA tissue enhanced (heart muscle 522 nTPM, skeletal muscle 447 nTPM); high antibody staining in 15 normal tissues; highest cancer staining liver cancer (4 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours, Renal cell carcinoma, Hepatocellular carcinoma, Lung cancer (all types), Sarcomas (soft tissue, bone, GIST), Colorectal cancer, Ovarian cancer); Open Targets associates it with 4 specific cancer types at or above 0.5 (pheochromocytoma/paraganglioma syndrome 5, gastrointestinal stromal tumor, hereditary pheochromocytoma-paraganglioma, hereditary neoplastic syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P31040","url":"https://www.uniprot.org/uniprotkb/P31040/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SDHA","url":"https://civicdb.org/features/5176","note":"1 evidence items, 0 assertions, 2 variants; diseases: Adrenal Gland Pheochromocytoma (GraphQL API, CC0)"},{"label":"IntOGen SDHA","url":"https://www.intogen.org/search?gene=SDHA","note":"driver in 3 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SDHA tissue","url":"https://www.proteinatlas.org/ENSG00000073578-SDHA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000073578 associations","url":"https://platform.opentargets.org/target/ENSG00000073578/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10680","ensembl":"ENSG00000073578","uniprot":"P31040","entrez":"6389","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Malcovati et al, 1991, \"Cloning of the flavoprotein subunit of human succinate dehydrogenase\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P31040/entry","biology":"Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). SDH also oxidises malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate. Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerised into keto-oxaloacetate. Can act as a tumour suppressor. Location: Mitochondrion inner membrane (UniProt). Locus 5p15.33 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.84 with neuroendocrine neoplasm (MONDO_0019496)","Renal cell carcinoma: IntOGen driver in 1 cohort (CHRCC)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Sarcomas: Open Targets association 0.52 with sarcoma (MONDO_0005089)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)"],"targetClass":"oncogene","prevalence":[]},{"id":"sdhaf2","kind":"target","name":"SDHAF2","aka":["succinate dehydrogenase complex assembly factor 2","Succinate dehydrogenase assembly factor 2, mitochondrial","FLJ20487","SDH5","PGL2","C11orf79"],"tldr":"SDHAF2 (Succinate dehydrogenase assembly factor 2, mitochondrial) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Neuroendocrine tumours and Ovarian cancer.","summary":"Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer.\n\nOpen Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes literature 0.79, genetic association 0.85, somatic mutation 0.95, genetic literature 0.81).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26034","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26034"},{"label":"UniProt Q9NX18","url":"https://www.uniprot.org/uniprotkb/Q9NX18/entry"},{"label":"NCBI Gene 54949","url":"https://www.ncbi.nlm.nih.gov/gene/54949"},{"label":"Ensembl ENSG00000167985","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167985"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SDHAF2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:26034","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26034","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NX18","url":"https://www.uniprot.org/uniprotkb/Q9NX18/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000167985","url":"https://platform.opentargets.org/target/ENSG00000167985/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: ovarian cancer 0.51, neuroendocrine neoplasm 0.83 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:26034","ensembl":"ENSG00000167985","uniprot":"Q9NX18","entrez":"54949","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer. Location: Mitochondrion matrix (UniProt). Locus 11q12.2 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.83 with neuroendocrine neoplasm (MONDO_0019496)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)"],"targetClass":"other","prevalence":[]},{"id":"sdhb","kind":"target","name":"SDHB","aka":["succinate dehydrogenase complex iron sulfur subunit B","Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial","SDH1"],"tldr":"SDHB (Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial) is an enzyme. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Neuroendocrine tumours, Breast cancer and Gastrointestinal stromal tumour.","summary":"Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). SDH also oxidises malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate. Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerised into keto-oxaloacetate.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 4 variants, naming Vandetanib and Metformin. Open Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.32, genetic association 0.61, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10681","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10681"},{"label":"UniProt P21912","url":"https://www.uniprot.org/uniprotkb/P21912/entry"},{"label":"NCBI Gene 6390","url":"https://www.ncbi.nlm.nih.gov/gene/6390"},{"label":"Ensembl ENSG00000117118","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000117118"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["neuroendocrine","breast-cancer","gist"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Paraganglioma; Hereditary Renal Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SDHB","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10681","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10681","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P21912","url":"https://www.uniprot.org/uniprotkb/P21912/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SDHB","url":"https://civicdb.org/features/5177","note":"3 evidence items, 0 assertions, 4 variants; diseases: Paraganglioma, Hereditary Renal Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000117118","url":"https://platform.opentargets.org/target/ENSG00000117118/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.88, gastrointestinal stromal tumour 0.75, breast cancer 0.54 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SDHB: RNA tissue enhanced (skeletal muscle 461 nTPM, tongue 542 nTPM); high antibody staining in 29 normal tissues; highest cancer staining colorectal cancer (11 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours, Breast cancer (all types), Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 6 specific cancer types at or above 0.5 (pheochromocytoma/paraganglioma syndrome 4, hereditary pheochromocytoma-paraganglioma, Carney-Stratakis syndrome, pheochromocytoma, gastrointestinal stromal tumor, hereditary neoplastic syndrome). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SDHB tissue","url":"https://www.proteinatlas.org/ENSG00000117118-SDHB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000117118 associations","url":"https://platform.opentargets.org/target/ENSG00000117118/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10681","ensembl":"ENSG00000117118","uniprot":"P21912","entrez":"6390","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gould S.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"Use of the DNA polymerase chain reaction for homology probing: isolation of partial cDNA or genomic clones encoding the iron-sulfur protein of succinate dehydrogenase from several species\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2494655/","biology":"Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). SDH also oxidises malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate. Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerised into keto-oxaloacetate. Location: Mitochondrion inner membrane (UniProt). Locus 1p36.13 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.88 with neuroendocrine neoplasm (MONDO_0019496)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Gastrointestinal stromal tumour: Open Targets association 0.75 with gastrointestinal stromal tumour (MONDO_0011719)"],"targetClass":"enzyme","prevalence":[]},{"id":"sdhc","kind":"target","name":"SDHC","aka":["succinate dehydrogenase complex subunit C","Succinate dehydrogenase cytochrome b560 subunit, mitochondrial","CYB560","cybL","PGL3"],"tldr":"SDHC (Succinate dehydrogenase cytochrome b560 subunit, mitochondrial) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Neuroendocrine tumours, Breast cancer, Colorectal cancer and 1 more.","summary":"Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). SDH also oxidises malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate. Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerised into keto-oxaloacetate.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes genetic literature 0.79, literature 0.91, genetic association 0.43, somatic mutation 0.97, animal model 0.38).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10682","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10682"},{"label":"UniProt Q99643","url":"https://www.uniprot.org/uniprotkb/Q99643/entry"},{"label":"NCBI Gene 6391","url":"https://www.ncbi.nlm.nih.gov/gene/6391"},{"label":"Ensembl ENSG00000143252","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143252"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine","breast-cancer","colorectal","gist"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SDHC","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10682","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10682","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99643","url":"https://www.uniprot.org/uniprotkb/Q99643/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143252","url":"https://platform.opentargets.org/target/ENSG00000143252/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: colorectal cancer 0.50, neuroendocrine neoplasm 0.83, gastrointestinal stromal tumour 0.72, breast cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10682","ensembl":"ENSG00000143252","uniprot":"Q99643","entrez":"6391","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Au H.C. et al, 1996, \"The cDNA sequence of human CII-3, an integral membrane protein subunit of complex II of the mitochondria electron transport chain\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q99643/entry","biology":"Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). SDH also oxidises malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate. Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerised into keto-oxaloacetate. Location: Mitochondrion inner membrane (UniProt). Locus 1q23.3 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.83 with neuroendocrine neoplasm (MONDO_0019496)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)","Gastrointestinal stromal tumour: Open Targets association 0.72 with gastrointestinal stromal tumour (MONDO_0011719)"],"targetClass":"other","prevalence":[]},{"id":"sdhd","kind":"target","name":"SDHD","aka":["succinate dehydrogenase complex subunit D","Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial","cybS","PGL1"],"tldr":"SDHD (Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Neuroendocrine tumours.","summary":"Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). SDH also oxidises malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate. Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerised into keto-oxaloacetate.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.89, genetic association 0.00, somatic mutation 0.96, genetic literature 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10683","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10683"},{"label":"UniProt O14521","url":"https://www.uniprot.org/uniprotkb/O14521/entry"},{"label":"NCBI Gene 6392","url":"https://www.ncbi.nlm.nih.gov/gene/6392"},{"label":"Ensembl ENSG00000204370","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204370"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SDHD","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10683","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10683","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14521","url":"https://www.uniprot.org/uniprotkb/O14521/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000204370","url":"https://platform.opentargets.org/target/ENSG00000204370/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.87 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10683","ensembl":"ENSG00000204370","uniprot":"O14521","entrez":"6392","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hirawake et al, Cytogenet. Cell Genet, 1997, \"Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9533030/","biology":"Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). SDH also oxidises malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate. Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerised into keto-oxaloacetate. Location: Mitochondrion inner membrane (UniProt). Locus 11q23.1 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.87 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"other","prevalence":[]},{"id":"sem1","kind":"target","name":"SEM1","aka":["SEM1 26S proteasome subunit","26S proteasome complex subunit SEM1","DSS1","Shfdg1","SHSF1","FLJ42280","PSMD15","SHFD1","SHFM1","C7orf76"],"tldr":"SEM1 (26S proteasome complex subunit SEM1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Multiple myeloma, Non-Hodgkin lymphoma and Mantle cell lymphoma.","summary":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes literature 0.86, affected pathway 0.87, genetic association 0.05, clinical 0.99).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10845","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10845"},{"label":"UniProt P60896","url":"https://www.uniprot.org/uniprotkb/P60896/entry"},{"label":"NCBI Gene 7979","url":"https://www.ncbi.nlm.nih.gov/gene/7979"},{"label":"Ensembl ENSG00000127922","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127922"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma","non-hodgkin-lymphoma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.99. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SEM1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:10845","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10845","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P60896","url":"https://www.uniprot.org/uniprotkb/P60896/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000127922","url":"https://platform.opentargets.org/target/ENSG00000127922/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: plasma cell myeloma 0.60, non-Hodgkin lymphoma 0.57, mantle cell lymphoma 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists SEM1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA SEM1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining renal cancer (3 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (plasma cell myeloma, mantle cell lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SEM1 tissue","url":"https://www.proteinatlas.org/ENSG00000127922-SEM1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000127922 associations","url":"https://platform.opentargets.org/target/ENSG00000127922/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10845","ensembl":"ENSG00000127922","uniprot":"P60896","entrez":"7979","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Crackower M.A. et al, Hum. Mol. Genet, 1996, \"Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8733122/","biology":"Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, SEM1, and either centrin CETN2 or CETN3. The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery. Location: Nucleus (UniProt). Locus 7q21.3 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.60 with plasma cell myeloma (MONDO_0009693)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908)","Mantle cell lymphoma: Open Targets association 0.54 with mantle cell lymphoma (MONDO_0018876)"],"targetClass":"other","prevalence":[]},{"id":"set","kind":"target","name":"SET","aka":["SET nuclear proto-oncogene","PHAPII","2PP2A","IPP2A2","TAF-IBETA","IGAAD","TAF-I"],"tldr":"SET (SET nuclear proto-oncogene) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Non-Hodgkin lymphoma and Acute lymphoblastic leukaemia.","summary":"Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition.\n\nOpen Targets scores its association with cancer at 0.46 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.59).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10760","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10760"},{"label":"UniProt Q01105","url":"https://www.uniprot.org/uniprotkb/Q01105/entry"},{"label":"NCBI Gene 6418","url":"https://www.ncbi.nlm.nih.gov/gene/6418"},{"label":"Ensembl ENSG00000119335","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119335"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SET","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10760","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10760","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01105","url":"https://www.uniprot.org/uniprotkb/Q01105/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000119335","url":"https://platform.opentargets.org/target/ENSG00000119335/associations","note":"association with cancer (MONDO_0004992) 0.46; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.52, non-Hodgkin lymphoma 0.54, leukaemia 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10760","ensembl":"ENSG00000119335","uniprot":"Q01105","entrez":"6418","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: von Lindern et al, Mol. Cell. Biol, 1992, \"Can, a putative oncogene associated with myeloid leukemogenesis, may be activated by fusion of its 3' half to different genes: characterization of the set gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1630450/","biology":"Multitasking protein, involved in apoptosis, transcription, nucleosome assembly and histone chaperoning. Isoform 2 anti-apoptotic activity is mediated by inhibition of the GZMA-activated DNase, NME1. In the course of cytotoxic T-lymphocyte (CTL)-induced apoptosis, GZMA cleaves SET, disrupting its binding to NME1 and releasing NME1 inhibition. Isoform 1 and isoform 2 are potent inhibitors of protein phosphatase 2A. Isoform 1 and isoform 2 inhibit EP300/CREBBP and PCAF-mediated acetylation of histones (HAT) and nucleosomes, most probably by masking the accessibility of lysines of histones to the acetylases. The predominant target for inhibition is histone H4. Location: Cytoplasm, cytosol; Endoplasmic reticulum; Nucleus, nucleoplasm (UniProt). Locus 9q34.11 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.55 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.54 with non-Hodgkin lymphoma (MONDO_0018908)","Acute lymphoblastic leukaemia: Open Targets association 0.52 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"other","prevalence":[]},{"id":"setbp1","kind":"target","name":"SETBP1","aka":["SET binding protein 1","SET-binding protein","KIAA0437"],"tldr":"SETBP1 (SET-binding protein) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Breast cancer and 5 more.","summary":"UniProt has no function text for Q9Y6X0; HGNC names it \"SET binding protein 1\".\n\nCIViC holds 3 clinical evidence items and 0 assertions across 3 variants. Open Targets scores its association with cancer at 0.84 (direct and indirect evidence; datatypes literature 0.95, genetic association 0.83, somatic mutation 0.84, genetic literature 0.83). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Adrenocortical Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15573","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15573"},{"label":"UniProt Q9Y6X0","url":"https://www.uniprot.org/uniprotkb/Q9Y6X0/entry"},{"label":"NCBI Gene 26040","url":"https://www.ncbi.nlm.nih.gov/gene/26040"},{"label":"Ensembl ENSG00000152217","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000152217"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","breast-cancer","mds","adrenocortical","skin-cancer","lung-cancer","neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 3 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Juvenile Myelomonocytic Leukaemia; Atypical Chronic Myeloid Leukaemia, BCR-ABL1 Negative."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SETBP1","role":["oncogene-driver","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:15573","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15573","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6X0","url":"https://www.uniprot.org/uniprotkb/Q9Y6X0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SETBP1","url":"https://civicdb.org/features/10024","note":"3 evidence items, 0 assertions, 3 variants; diseases: Chronic Myeloid Leukaemia, Juvenile Myelomonocytic Leukaemia, Atypical Chronic Myeloid Leukaemia, BCR-ABL1 Negative (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000152217","url":"https://platform.opentargets.org/target/ENSG00000152217/associations","note":"association with cancer (MONDO_0004992) 0.84; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.51, gastric cancer 0.51, melanoma 0.57, neuroendocrine neoplasm 0.52, acute myeloid leukaemia 0.67, skin cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen SETBP1","url":"https://www.intogen.org/search?gene=SETBP1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SETBP1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining carcinoid (1 of 4 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Breast cancer (all types), Adrenocortical carcinoma, Skin cancer (all types), Lung cancer (all types), Neuroendocrine tumours); Open Targets associates it with 4 specific cancer types at or above 0.5 (chronic myeloid leukemia, myelodysplastic syndrome, acute myeloid leukemia, breast carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9Y6X0","url":"https://www.uniprot.org/uniprotkb/Q9Y6X0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SETBP1","url":"https://civicdb.org/features/10024","note":"3 evidence items, 0 assertions, 3 variants; diseases: Chronic Myeloid Leukaemia, Juvenile Myelomonocytic Leukaemia, Atypical Chronic Myeloid Leukaemia, BCR-ABL1 Negative (GraphQL API, CC0)"},{"label":"IntOGen SETBP1","url":"https://www.intogen.org/search?gene=SETBP1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SETBP1 tissue","url":"https://www.proteinatlas.org/ENSG00000152217-SETBP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000152217 associations","url":"https://platform.opentargets.org/target/ENSG00000152217/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:15573","ensembl":"ENSG00000152217","uniprot":"Q9Y6X0","entrez":"26040","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ishikawa et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9455477/","biology":"UniProt has no function text for Q9Y6X0; HGNC names it \"SET binding protein 1\". Location: Nucleus (UniProt). Locus 18q12.3 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.77 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.77 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.66 with breast cancer (MONDO_0007254)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.66 with myelodysplastic syndrome (MONDO_0018881)","Adrenocortical carcinoma: IntOGen driver in 1 cohort (ACC)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)"],"targetClass":"oncogene","prevalence":[]},{"id":"setd1b","kind":"target","name":"SETD1B","aka":["SET domain containing 1B, histone lysine methyltransferase","Histone-lysine N-methyltransferase SETD1B","KIAA1076","Set1B","KMT2G"],"tldr":"SETD1B (Histone-lysine N-methyltransferase SETD1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer, Head and neck squamous cell carcinoma, Ovarian cancer and 5 more.","summary":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place. Plays an essential role in regulating the transcriptional programming of multipotent haematopoietic progenitor cells and lymphoid lineage specification during haematopoiesis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 8 cohorts (1 activating, 7 loss-of-function), covering Oesophageal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer, Ovarian Epithelial Tumour, Pancreatic Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29187","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29187"},{"label":"UniProt Q9UPS6","url":"https://www.uniprot.org/uniprotkb/Q9UPS6/entry"},{"label":"NCBI Gene 23067","url":"https://www.ncbi.nlm.nih.gov/gene/23067"},{"label":"Ensembl ENSG00000139718","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139718"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["esophageal","head-and-neck","ovarian","pancreatic","gastric","urothelial","dlbcl","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 7 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SETD1B","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29187","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29187","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UPS6","url":"https://www.uniprot.org/uniprotkb/Q9UPS6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SETD1B","url":"https://civicdb.org/features/9261","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SETD1B","url":"https://www.intogen.org/search?gene=SETD1B","note":"driver in 8 cohorts (Act 1, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SETD1B: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining endometrial cancer (1 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Oesophageal cancer, Head and neck squamous cell carcinoma, Ovarian cancer, Pancreatic ductal adenocarcinoma, Gastric & gastro-oesophageal junction cancer, Bladder & urothelial cancer, Lymphoma and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UPS6","url":"https://www.uniprot.org/uniprotkb/Q9UPS6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SETD1B","url":"https://civicdb.org/features/9261","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SETD1B","url":"https://www.intogen.org/search?gene=SETD1B","note":"driver in 8 cohorts (Act 1, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SETD1B tissue","url":"https://www.proteinatlas.org/ENSG00000139718-SETD1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139718 associations","url":"https://platform.opentargets.org/target/ENSG00000139718/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29187","ensembl":"ENSG00000139718","uniprot":"Q9UPS6","entrez":"23067","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kikuno et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10470851/","biology":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place. Plays an essential role in regulating the transcriptional programming of multipotent haematopoietic progenitor cells and lymphoid lineage specification during haematopoiesis. Location: Nucleus; Nucleus speckle; Chromosome; Cytoplasm (UniProt). Locus 12q24.31 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)"],"targetClass":"transcription","prevalence":[]},{"id":"setd2","kind":"target","name":"SETD2","aka":["SET domain containing 2, histone lysine methyltransferase","Histone-lysine N-methyltransferase SETD2","HIF-1","KIAA1732","FLJ23184","KMT3A"],"tldr":"SETD2 (Histone-lysine N-methyltransferase SETD2) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and an approved or late-stage drug is recorded against it. Tied to Renal cell carcinoma, Leukaemia, Non-Hodgkin lymphoma and 5 more.","summary":"Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Akt Inhibitor MK2206, PI3Kbeta Inhibitor AZD8186, Samotolisib and Anti-PD1 Monoclonal Antibody and others. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes genetic literature 0.38, affected pathway 0.76, literature 0.99, genetic association 0.36, somatic mutation 0.94). IntOGen calls it a driver in 34 cohorts (1 activating, 33 loss-of-function), covering Acute Lymphoblastic Leukaemia, Renal Clear Cell Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Oesophagogastric Adenocarcinoma, Ewing Sarcoma, Glioblastoma and others. In OnCo, 1 product record names it (Temsirolimus).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18420","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18420"},{"label":"UniProt Q9BYW2","url":"https://www.uniprot.org/uniprotkb/Q9BYW2/entry"},{"label":"NCBI Gene 29072","url":"https://www.ncbi.nlm.nih.gov/gene/29072"},{"label":"Ensembl ENSG00000181555","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000181555"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["rcc","leukaemia","non-hodgkin-lymphoma","pancreatic","mesothelioma","skin-cancer","lung-cancer","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["temsirolimus"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 6 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 33 cohorts; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Malignant Mesothelioma; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SETD2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:18420","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18420","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BYW2","url":"https://www.uniprot.org/uniprotkb/Q9BYW2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SETD2","url":"https://civicdb.org/features/11289","note":"3 evidence items, 0 assertions, 2 variants; diseases: Clear Cell Renal Cell Carcinoma, Malignant Mesothelioma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000181555","url":"https://platform.opentargets.org/target/ENSG00000181555/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.59, renal cell carcinoma 0.70, melanoma 0.64, neuroendocrine neoplasm 0.52, acute lymphoblastic leukaemia 0.64, B-cell chronic lymphocytic leukaemia 0.51 (GraphQL API, CC0)"},{"label":"IntOGen SETD2","url":"https://www.intogen.org/search?gene=SETD2","note":"driver in 34 cohorts (Act 1, LoF 33); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists SETD2 among essential proteins and finds the RNA at low tissue specificity; the 1 medicine aimed at it (Temsirolimus) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA SETD2: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (2 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Leukaemia, Lymphoma, Pancreatic ductal adenocarcinoma, Mesothelioma, Skin cancer (all types), Lung cancer (all types) and more); Open Targets associates it with 3 specific cancer types at or above 0.5 (clear cell renal carcinoma, pleural mesothelioma, lung adenocarcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SETD2 tissue","url":"https://www.proteinatlas.org/ENSG00000181555-SETD2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000181555 associations","url":"https://platform.opentargets.org/target/ENSG00000181555/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18420","ensembl":"ENSG00000181555","uniprot":"Q9BYW2","entrez":"29072","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Faber P.W. et al, Hum. Mol. Genet, 1998, \"Huntingtin interacts with a family of WW domain proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9700202/","biology":"Histone methyltransferase that specifically trimethylates 'Lys-36' of histone H3 (H3K36me3) using dimethylated 'Lys-36' (H3K36me2) as substrate. It is capable of trimethylating unmethylated H3K36 (H3K36me0) in vitro. Represents the main enzyme generating H3K36me3, a specific tag for epigenetic transcriptional activation. Plays a role in chromatin structure modulation during elongation by coordinating recruitment of the FACT complex and by interacting with hyperphosphorylated POLR2A. Acts as a key regulator of DNA mismatch repair in G1 and early S phase by generating H3K36me3, a mark required to recruit MSH6 subunit of the MutS alpha complex: early recruitment of the MutS alpha complex to chromatin to be replicated allows a quick identification of mismatch DNA to initiate the mismatch repair reaction. Required for DNA double-strand break repair in response to DNA damage: acts by mediating formation of H3K36me3, promoting recruitment of RAD51 and DNA repair via homologous recombination (HR). Location: Nucleus; Chromosome (UniProt). Locus 3p21.31 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.70 with renal cell carcinoma (MONDO_0005086); IntOGen driver in 5 cohorts (CCRCC, PRCC, RCC)","Leukaemia: Open Targets association 0.66 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.64 with non-Hodgkin lymphoma (MONDO_0018908)","Pancreatic ductal adenocarcinoma: IntOGen driver in 3 cohorts (PAAD, PANCREAS)","Mesothelioma: IntOGen driver in 3 cohorts (PLMESO)","Skin cancer: Open Targets association 0.61 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},{"id":"setdb1","kind":"target","name":"SETDB1","aka":["SET domain bifurcated histone lysine methyltransferase 1","Histone-lysine N-methyltransferase SETDB1","KG1T","KIAA0067","KMT1E","TDRD21"],"tldr":"SETDB1 (Histone-lysine N-methyltransferase SETDB1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Colorectal cancer, Hepatocellular carcinoma and 5 more.","summary":"Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes.\n\nIntOGen calls it a driver in 8 cohorts (5 activating, 3 loss-of-function), covering Invasive Breast Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Colon Adenocarcinoma, Hepatocellular Carcinoma, Head and Neck Squamous Cell Carcinoma, Pancreatic Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10761","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10761"},{"label":"UniProt Q15047","url":"https://www.uniprot.org/uniprotkb/Q15047/entry"},{"label":"NCBI Gene 9869","url":"https://www.ncbi.nlm.nih.gov/gene/9869"},{"label":"Ensembl ENSG00000143379","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143379"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer","colorectal","hcc","head-and-neck","pancreatic","mesothelioma","endometrial","cll"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SETDB1","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10761","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10761","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15047","url":"https://www.uniprot.org/uniprotkb/Q15047/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SETDB1","url":"https://www.intogen.org/search?gene=SETDB1","note":"driver in 8 cohorts (Act 5, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10761","ensembl":"ENSG00000143379","uniprot":"Q15047","entrez":"9869","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584044/","biology":"Histone methyltransferase that specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in euchromatin regions, thereby playing a central role in the silencing of euchromatic genes. H3 'Lys-9' trimethylation is coordinated with DNA methylation. Forms a complex with MBD1 and ATF7IP that represses transcription and couples DNA methylation and histone 'Lys-9' trimethylation. Its activity is dependent on MBD1 and is heritably maintained through DNA replication by being recruited by CAF-1. Location: Nucleus; Cytoplasm; Chromosome (UniProt). Locus 1q21.3 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)","Colorectal cancer: IntOGen driver in 1 cohort (COAD)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"transcription","prevalence":[]},{"id":"sf3b1","kind":"target","name":"SF3B1","aka":["splicing factor 3b subunit 1","Splicing factor 3B subunit 1","SAP155","SF3b155","PRPF10","Prp10","Hsh155"],"tldr":"SF3B1 (Splicing factor 3B subunit 1) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Myelodysplastic syndromes / neoplasms and 5 more.","summary":"Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, SF3B1 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA.\n\nCIViC holds 10 clinical evidence items and 0 assertions across 4 variants, naming Spliceostatin A, Olaparib and Etoposide. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.98, genetic association 0.57, somatic mutation 0.95, animal model 0.48). IntOGen calls it a driver in 25 cohorts (24 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Cholangiocarcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Hepatocellular Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10768"},{"label":"UniProt O75533","url":"https://www.uniprot.org/uniprotkb/O75533/entry"},{"label":"NCBI Gene 23451","url":"https://www.ncbi.nlm.nih.gov/gene/23451"},{"label":"Ensembl ENSG00000115524","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115524"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","mds","breast-cancer","pancreatic","myeloproliferative-neoplasms","urothelial","hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["rna-splicing"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it an activating (Act) driver in 24 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 10 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SF3B1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10768","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75533","url":"https://www.uniprot.org/uniprotkb/O75533/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SF3B1","url":"https://civicdb.org/features/44","note":"10 evidence items, 0 assertions, 4 variants; diseases: Chronic Lymphocytic Leukaemia, Myelodysplastic Syndrome, Breast Cancer, Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000115524","url":"https://platform.opentargets.org/target/ENSG00000115524/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.56, melanoma 0.70, acute myeloid leukaemia 0.52, acute lymphoblastic leukaemia 0.74, B-cell chronic lymphocytic leukaemia 0.74, non-Hodgkin lymphoma 0.75 (GraphQL API, CC0)"},{"label":"IntOGen SF3B1","url":"https://www.intogen.org/search?gene=SF3B1","note":"driver in 25 cohorts (Act 24, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SF3B1: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining renal cancer (7 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Myeloid neoplasms, Breast cancer (all types), Pancreatic ductal adenocarcinoma, Bladder & urothelial cancer, Hepatocellular carcinoma); Open Targets associates it with 5 specific cancer types at or above 0.5 (B-cell chronic lymphocytic leukemia, myelodysplastic syndrome, lymphoid leukemia, myeloproliferative disorder, breast adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O75533","url":"https://www.uniprot.org/uniprotkb/O75533/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SF3B1","url":"https://civicdb.org/features/44","note":"10 evidence items, 0 assertions, 4 variants; diseases: Chronic Lymphocytic Leukaemia, Myelodysplastic Syndrome, Breast Cancer, Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen SF3B1","url":"https://www.intogen.org/search?gene=SF3B1","note":"driver in 25 cohorts (Act 24, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SF3B1 tissue","url":"https://www.proteinatlas.org/ENSG00000115524-SF3B1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115524 associations","url":"https://platform.opentargets.org/target/ENSG00000115524/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10768","ensembl":"ENSG00000115524","uniprot":"O75533","entrez":"23451","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang et al, Genes Dev, 1998, \"Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9585501/","biology":"Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, SF3B1 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA. Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the 'E' complex. Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs. Location: Nucleus; Nucleus speckle (UniProt). Locus 2q33.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.81 with leukaemia (MONDO_0005059); CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.75 with non-Hodgkin lymphoma (MONDO_0018908)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.66 with myelodysplastic syndrome (MONDO_0018881); CIViC evidence names this disease","Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: IntOGen driver in 2 cohorts (PAAD)","Myeloproliferative neoplasms: Open Targets association 0.58 with myeloproliferative neoplasm (MONDO_0020076)"],"targetClass":"oncogene","prevalence":[]},{"id":"sfpq","kind":"target","name":"SFPQ","aka":["splicing factor proline and glutamine rich","Splicing factor, proline- and glutamine-rich","PPP1R140"],"tldr":"SFPQ (Splicing factor, proline- and glutamine-rich) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner and a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.00, somatic mutation 0.89).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10774"},{"label":"UniProt P23246","url":"https://www.uniprot.org/uniprotkb/P23246/entry"},{"label":"NCBI Gene 6421","url":"https://www.ncbi.nlm.nih.gov/gene/6421"},{"label":"Ensembl ENSG00000116560","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000116560"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene; UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SFPQ","role":["fusion-partner","dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10774","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23246","url":"https://www.uniprot.org/uniprotkb/P23246/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000116560","url":"https://platform.opentargets.org/target/ENSG00000116560/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10774","ensembl":"ENSG00000116560","uniprot":"P23246","entrez":"6421","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gower H.J. et al, Development, 1989, \"Cloning and characterization of a myoblast cell surface antigen defined by 24.1D5 monoclonal antibody\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2480877/","biology":"DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-cell activation and subsequent reduced phosphorylation is proposed to lead to release from THRAP3 allowing binding to pre-mRNA splicing regulatotry elements which represses exon inclusion. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. Location: Nucleus speckle; Nucleus matrix; Cytoplasm (UniProt). Locus 1p34.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"sfrp4","kind":"target","name":"SFRP4","aka":["secreted frizzled related protein 4","Secreted frizzled-related protein 4","frpHE","FRP-4","FRPHE","FRZB-2"],"tldr":"SFRP4 (Secreted frizzled-related protein 4) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer, Gastric & gastro-oesophageal junction cancer and Skin cancer.","summary":"Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signalling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP4 plays a role in bone morphogenesis.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.98, animal model 0.54, genetic association 0.14, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10778","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10778"},{"label":"UniProt Q6FHJ7","url":"https://www.uniprot.org/uniprotkb/Q6FHJ7/entry"},{"label":"NCBI Gene 6424","url":"https://www.ncbi.nlm.nih.gov/gene/6424"},{"label":"Ensembl ENSG00000106483","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106483"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","gastric","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SFRP4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10778","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10778","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6FHJ7","url":"https://www.uniprot.org/uniprotkb/Q6FHJ7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000106483","url":"https://platform.opentargets.org/target/ENSG00000106483/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: colorectal cancer 0.54, gastric cancer 0.52, skin cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10778","ensembl":"ENSG00000106483","uniprot":"Q6FHJ7","entrez":"6424","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Abu-Jawdeh G.M. et al, Lab. Invest, 1999, \"Differential expression of frpHE: a novel human stromal protein of the secreted frizzled gene family, during the endometrial cycle and malignancy\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10211996/","biology":"Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signalling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP4 plays a role in bone morphogenesis. May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signalling. Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake. Location: Secreted (UniProt). Locus 7p14.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)"],"targetClass":"other","prevalence":[]},{"id":"sgk1","kind":"target","name":"SGK1","aka":["serum/glucocorticoid regulated kinase 1","Serine/threonine-protein kinase Sgk1"],"tldr":"SGK1 (Serine/threonine-protein kinase Sgk1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Non-Hodgkin lymphoma, Renal cell carcinoma and 2 more.","summary":"Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peripheral glucose uptake, cardiac repolarisation and memory consolidation.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 2 variants, naming Alpelisib and SGK1-Inh. IntOGen calls it a driver in 6 cohorts (4 activating, 2 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma, Papillary Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10810","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10810"},{"label":"UniProt O00141","url":"https://www.uniprot.org/uniprotkb/O00141/entry"},{"label":"NCBI Gene 6446","url":"https://www.ncbi.nlm.nih.gov/gene/6446"},{"label":"Ensembl ENSG00000118515","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118515"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","non-hodgkin-lymphoma","rcc","dlbcl","papillary-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SGK1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10810","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10810","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O00141","url":"https://www.uniprot.org/uniprotkb/O00141/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SGK1","url":"https://civicdb.org/features/5225","note":"4 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000118515","url":"https://platform.opentargets.org/target/ENSG00000118515/associations","note":"per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.53, non-Hodgkin lymphoma 0.55 (GraphQL API, CC0)"},{"label":"IntOGen SGK1","url":"https://www.intogen.org/search?gene=SGK1","note":"driver in 6 cohorts (Act 4, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SGK1: RNA tissue enhanced (parathyroid gland 946 nTPM); blood lineage group enriched (granulocytes 170 nTPM, monocytes 44 nTPM); high antibody staining in 16 normal tissues; highest cancer staining pancreatic cancer (3 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lymphoma, Renal cell carcinoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O00141","url":"https://www.uniprot.org/uniprotkb/O00141/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SGK1","url":"https://civicdb.org/features/5225","note":"4 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer, Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SGK1","url":"https://www.intogen.org/search?gene=SGK1","note":"driver in 6 cohorts (Act 4, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SGK1 tissue","url":"https://www.proteinatlas.org/ENSG00000118515-SGK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118515 associations","url":"https://platform.opentargets.org/target/ENSG00000118515/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10810","ensembl":"ENSG00000118515","uniprot":"O00141","entrez":"6446","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Waldegger et al, Proc. Natl. Acad. Sci. U.S.A, 1997, \"Cloning and characterization of a putative human serine/threonine protein kinase transcriptionally modified during anisotonic and isotonic alterations of cell volume\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9114008/","biology":"Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peripheral glucose uptake, cardiac repolarisation and memory consolidation. Up-regulates Na(+) channels: SCNN1A/ENAC, SCN5A and ASIC1/ACCN2, K(+) channels: KCNJ1/ROMK1, KCNA1-5, KCNQ1-5 and KCNE1, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channels: BSND, CLCN2 and CFTR, glutamate transporters: SLC1A3/EAAT1, SLC1A2 /EAAT2, SLC1A1/EAAT3, SLC1A6/EAAT4 and SLC1A7/EAAT5, amino acid transporters: SLC1A5/ASCT2, SLC38A1/SN1 and SLC6A19, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, glutamate receptor: GRIK2/GLUR6. Up-regulates carriers: SLC9A3/NHE3, SLC12A1/NKCC2, SLC12A3/NCC, SLC5A3/SMIT, SLC2A1/GLUT1, SLC5A1/SGLT1 and SLC15A2/PEPT2. Regulates enzymes: GSK3A/B, PMM2 and Na(+)/K(+) ATPase, and transcription factors: CTNNB1 and nuclear factor NF-kappa-B. Location: Cytoplasm; Nucleus; Endoplasmic reticulum membrane; Cell membrane (UniProt). Locus 6q23.2 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)","Diffuse large B-cell lymphoma: Open Targets association 0.53 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Papillary renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)"],"targetClass":"kinase","prevalence":[]},{"id":"sh2b3","kind":"target","name":"SH2B3","aka":["SH2B adaptor protein 3","SH2B adapter protein 3","IDDM20"],"tldr":"SH2B3 (SH2B adapter protein 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Myeloproliferative neoplasms, Endometrial cancer and 4 more.","summary":"Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.76, literature 0.96, genetic association 0.90, somatic mutation 0.88, animal model 0.75). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Myelodysplastic Syndromes.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29605","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29605"},{"label":"UniProt Q9UQQ2","url":"https://www.uniprot.org/uniprotkb/Q9UQQ2/entry"},{"label":"NCBI Gene 10019","url":"https://www.ncbi.nlm.nih.gov/gene/10019"},{"label":"Ensembl ENSG00000111252","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111252"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","myeloproliferative-neoplasms","endometrial","mds","leukaemia","sarcoma","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SH2B3","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29605","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29605","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UQQ2","url":"https://www.uniprot.org/uniprotkb/Q9UQQ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SH2B3","url":"https://civicdb.org/features/7954","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000111252","url":"https://platform.opentargets.org/target/ENSG00000111252/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.63, endometrial cancer 0.59, sarcoma 0.54, non-Hodgkin lymphoma 0.52, myeloproliferative neoplasm 0.61, leukaemia 0.57 (GraphQL API, CC0)"},{"label":"IntOGen SH2B3","url":"https://www.intogen.org/search?gene=SH2B3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SH2B3: RNA tissue enhanced (bone marrow 57 nTPM); high antibody staining in 30 normal tissues; highest cancer staining glioma (10 of 11 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Myeloid neoplasms, Endometrial cancer, Leukaemia, Sarcomas (soft tissue, bone, GIST), Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (myeloproliferative disorder, colorectal cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UQQ2","url":"https://www.uniprot.org/uniprotkb/Q9UQQ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SH2B3","url":"https://civicdb.org/features/7954","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"IntOGen SH2B3","url":"https://www.intogen.org/search?gene=SH2B3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SH2B3 tissue","url":"https://www.proteinatlas.org/ENSG00000111252-SH2B3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000111252 associations","url":"https://platform.opentargets.org/target/ENSG00000111252/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29605","ensembl":"ENSG00000111252","uniprot":"Q9UQQ2","entrez":"10019","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bartholomew M.A. et al, 1998, \"Characterisation of human Lnk a lymphocyte adaptor protein with a multiple domain structure\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9UQQ2/entry","biology":"Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. Locus 12q24.12 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.63 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Myeloproliferative neoplasms: Open Targets association 0.61 with myeloproliferative neoplasm (MONDO_0020076)","Endometrial cancer: Open Targets association 0.59 with endometrial cancer (MONDO_0011962)","Myelodysplastic syndromes / neoplasms: IntOGen driver in 1 cohort (MDS)","Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Sarcomas: Open Targets association 0.54 with sarcoma (MONDO_0005089)"],"targetClass":"oncogene","prevalence":[]},{"id":"sh3gl1","kind":"target","name":"SH3GL1","aka":["SH3 domain containing GRB2 like 1, endophilin A2","Endophilin-A2","SH3P8","SH3D2B","CNSA1","MGC111371"],"tldr":"SH3GL1 (Endophilin-A2) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"Implicated in endocytosis. In a first step mediates neck formation during ultrafast endocytosis and function at a second step to aid in the removal of clathrin coats from the regenerated vesicles. May recruit other proteins to membranes with high curvature.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.69, genetic association 0.01, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10830","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10830"},{"label":"UniProt Q99961","url":"https://www.uniprot.org/uniprotkb/Q99961/entry"},{"label":"NCBI Gene 6455","url":"https://www.ncbi.nlm.nih.gov/gene/6455"},{"label":"Ensembl ENSG00000141985","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141985"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SH3GL1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10830","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10830","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99961","url":"https://www.uniprot.org/uniprotkb/Q99961/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141985","url":"https://platform.opentargets.org/target/ENSG00000141985/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10830","ensembl":"ENSG00000141985","uniprot":"Q99961","entrez":"6455","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Giachino et al, Genomics, 1997, \"A novel SH3-containing human gene family preferentially expressed in the central nervous system\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9169142/","biology":"Implicated in endocytosis. In a first step mediates neck formation during ultrafast endocytosis and function at a second step to aid in the removal of clathrin coats from the regenerated vesicles. May recruit other proteins to membranes with high curvature. Location: Cytoplasm; Early endosome membrane; Cell projection, podosome (UniProt). Locus 19p13.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"shc1","kind":"target","name":"SHC1","aka":["SHC adaptor protein 1","SHC-transforming protein 1","p66","ShcA"],"tldr":"SHC1 (SHC-transforming protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Signalling adapter that couples activated growth factor receptors to signalling pathways. Participates in a signalling cascade initiated by activated KIT and KITLG/SCF. Isoform p46Shc and isoform p52Shc, once phosphorylated, couple activated receptor tyrosine kinases to Ras via the recruitment of the GRB2/SOS complex and are implicated in the cytoplasmic propagation of mitogenic signals.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.84, animal model 0.49, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10840","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10840"},{"label":"UniProt P29353","url":"https://www.uniprot.org/uniprotkb/P29353/entry"},{"label":"NCBI Gene 6464","url":"https://www.ncbi.nlm.nih.gov/gene/6464"},{"label":"Ensembl ENSG00000160691","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160691"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SHC1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10840","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10840","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29353","url":"https://www.uniprot.org/uniprotkb/P29353/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000160691","url":"https://platform.opentargets.org/target/ENSG00000160691/associations","note":"association with cancer (MONDO_0004992) 0.66;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10840","ensembl":"ENSG00000160691","uniprot":"P29353","entrez":"6464","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pelicci et al, Cell, 1992, \"A novel transforming protein (SHC) with an SH2 domain is implicated in mitogenic signal transduction\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1623525/","biology":"Signalling adapter that couples activated growth factor receptors to signalling pathways. Participates in a signalling cascade initiated by activated KIT and KITLG/SCF. Isoform p46Shc and isoform p52Shc, once phosphorylated, couple activated receptor tyrosine kinases to Ras via the recruitment of the GRB2/SOS complex and are implicated in the cytoplasmic propagation of mitogenic signals. Isoform p46Shc and isoform p52Shc may thus function as initiators of the Ras signalling cascade in various non-neuronal systems. Isoform p66Shc does not mediate Ras activation, but is involved in signal transduction pathways that regulate the cellular response to oxidative stress and life span. Isoform p66Shc acts as a downstream target of the tumour suppressor p53 and is indispensable for the ability of stress-activated p53 to induce elevation of intracellular oxidants, cytochrome c release and apoptosis. Location: Cytoplasm; Cell junction, focal adhesion; Mitochondrion matrix; Mitochondrion (UniProt). Locus 1q21.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"shp2","kind":"target","name":"SHP2 (PTPN11)","aka":["SHP-2","PTP2C","SH-PTP2","protein tyrosine phosphatase non-receptor type 11"],"tldr":"SHP2 is an enzyme that sits between growth-factor receptors and RAS and keeps the RAS signal flowing. Blocking it removes the route by which KRAS-driven tumours bounce back from a KRAS inhibitor, which is why SHP2 inhibitors are being paired with KRAS G12C drugs.","summary":"PTPN11 (chromosome 12q24.13) encodes SHP2, a cytoplasmic tyrosine phosphatase that acts downstream of receptor and cytoplasmic tyrosine kinases, positively regulates MAPK signalling and dephosphorylates GAB1, EGFR, ROCK2, CDC73 and other substrates; it is also the effector recruited by phosphorylated PD-1 to dephosphorylate T-cell receptor signalling components (UniProt Q06124). In OnCo, SHP2 is the target of the second-generation allosteric inhibitor sitneprotafib (JAB-3312), combined with the KRAS G12C inhibitor glecirasib in NSCLC, colorectal and pancreatic cancer, and the combination partner named in the garsorasib and glecirasib records.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:9644","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9644"},{"label":"UniProt Q06124","url":"https://www.uniprot.org/uniprotkb/Q06124/entry"},{"label":"NCBI Gene 5781","url":"https://www.ncbi.nlm.nih.gov/gene/5781"}],"tags":["wave5-target"],"related":["glecirasib","garsorasib","kras","octreotide-lanreotide"],"cancers":["nsclc","colorectal","pancreatic"],"sections":[],"technologies":["kras-inhibitors","kinase-inhibitors"],"targets":[],"drugs":["sitneprotafib"],"companies":[],"institutions":[],"pathways":["ras-mapk","rtk-activation","resistance-routes-map","pd1-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"PTPN11","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists PTPN11 among essential proteins and finds the RNA at low tissue specificity; the 1 medicine aimed at it (Sitneprotafib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA PTPN11: RNA low tissue specificity; high antibody staining in 21 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Colorectal cancer, Pancreatic ductal adenocarcinoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (juvenile myelomonocytic leukemia, acute myeloid leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas PTPN11 tissue","url":"https://www.proteinatlas.org/ENSG00000179295-PTPN11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000179295 associations","url":"https://platform.opentargets.org/target/ENSG00000179295/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:9644","ensembl":"ENSG00000179295","uniprot":"Q06124","entrez":"5781","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Adachi et al, FEBS Lett, 1992, \"Molecular cloning of a novel protein-tyrosine phosphatase SH-PTP3 with sequence similarity to the src-homology region 2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1281790/","biology":"Because SHP2 relays receptor signals into RAS, inhibiting it blocks the upstream reactivation that limits KRAS inhibitors, and its role in PD-1 signalling gives a second rationale in immunotherapy combinations. Sitneprotafib is described as allosteric, with more potent anti-tumour activity than earlier SHP2 inhibitors.","whereFound":["KRAS G12C-mutant NSCLC and colorectal cancer (combination trials with KRAS inhibitors)","Pancreatic cancer (sitneprotafib trials)"],"targetClass":"enzyme","prevalence":[]},{"id":"shtn1","kind":"target","name":"SHTN1","aka":["shootin 1","Shootin-1","shootin1","shootin-1","KIAA1598"],"tldr":"SHTN1 (Shootin-1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma and Pleural mesothelioma.","summary":"Involved in the generation of internal asymmetric signals required for neuronal polarisation and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or 'clutch engagement' within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signalling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organisation by regulating the subcellular localisation of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29319","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29319"},{"label":"UniProt A0MZ66","url":"https://www.uniprot.org/uniprotkb/A0MZ66/entry"},{"label":"NCBI Gene 57698","url":"https://www.ncbi.nlm.nih.gov/gene/57698"},{"label":"Ensembl ENSG00000187164","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187164"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["mesothelioma","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SHTN1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:29319","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29319","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt A0MZ66","url":"https://www.uniprot.org/uniprotkb/A0MZ66/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SHTN1","url":"https://www.intogen.org/search?gene=SHTN1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:29319","ensembl":"ENSG00000187164","uniprot":"A0MZ66","entrez":"57698","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10997877/","biology":"Involved in the generation of internal asymmetric signals required for neuronal polarisation and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or 'clutch engagement' within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signalling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organisation by regulating the subcellular localisation of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Also plays a role in regenerative neurite outgrowth. In the developing cortex, cooperates with KIF20B to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in the accumulation of phosphatidylinositol 3,4,5-trisphosphate (PIP3) in the growth cone of primary hippocampal neurons. Location: Perikaryon; Cell projection, axon; Cell projection, growth cone; Cytoplasm, cytoskeleton (UniProt). Locus 10q25.3 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"oncogene","prevalence":[]},{"id":"sidt1","kind":"target","name":"SIDT1","aka":["SID1 transmembrane family member 1","FLJ20174","SID-1"],"tldr":"SIDT1 (SID1 transmembrane family member 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"In vitro binds long double-stranded RNA (dsRNA) (500 and 700 base pairs), but not dsRNA shorter than 300 bp. Not involved in RNA autophagy, a process in which RNA is directly imported into lysosomes in an ATP-dependent manner, and degraded.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.83, genetic association 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25967","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25967"},{"label":"UniProt Q9NXL6","url":"https://www.uniprot.org/uniprotkb/Q9NXL6/entry"},{"label":"NCBI Gene 54847","url":"https://www.ncbi.nlm.nih.gov/gene/54847"},{"label":"Ensembl ENSG00000072858","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072858"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SIDT1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:25967","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25967","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NXL6","url":"https://www.uniprot.org/uniprotkb/Q9NXL6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000072858","url":"https://platform.opentargets.org/target/ENSG00000072858/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:25967","ensembl":"ENSG00000072858","uniprot":"Q9NXL6","entrez":"54847","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"In vitro binds long double-stranded RNA (dsRNA) (500 and 700 base pairs), but not dsRNA shorter than 300 bp. Not involved in RNA autophagy, a process in which RNA is directly imported into lysosomes in an ATP-dependent manner, and degraded. Location: Membrane (UniProt). Locus 3q13.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"siglec10","kind":"target","name":"Siglec-10","aka":["SIGLEC-10","sialic acid binding Ig like lectin 10","SLG2"],"tldr":"Siglec-10 is the receptor on macrophages and other blood cells that reads the CD24 'don't eat me' badge on tumour cells and calls off the attack.","summary":"SIGLEC10 (chromosome 19q13.41) is a sialic-acid-binding immunoglobulin-like lectin that preferentially binds alpha-2,3- or alpha-2,6-linked sialic acid and seems to act as an inhibitory receptor in the immune response, recruiting cytoplasmic phosphatases through its ITIMs on ligand-induced phosphorylation; it is expressed by peripheral blood leukocytes (eosinophils, monocytes and an NK-cell subpopulation) and in lymph node, lung, ovary and appendix (UniProt Q96LC7). The CD24-Siglec-10 interaction inhibits macrophage phagocytosis and NK cytotoxicity (Panagiotou et al. 2022).","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:15620","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15620"},{"label":"UniProt Q96LC7","url":"https://www.uniprot.org/uniprotkb/Q96LC7/entry"},{"label":"NCBI Gene 89790","url":"https://www.ncbi.nlm.nih.gov/gene/89790"}],"tags":["checkpoint-map"],"related":["cd24","sirpa","macrophage"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"SIGLEC10","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:15620","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15620","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt Q96LC7","url":"https://www.uniprot.org/uniprotkb/Q96LC7/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:15620","ensembl":"ENSG00000142512","uniprot":"Q96LC7","entrez":"89790","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yousef G.M. et al, Biochem. Biophys. Res. Commun, 2001, \"Molecular characterization, tissue expression, and mapping of a novel Siglec-like gene (SLG2) with three splice variants\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11409878/","biology":"An ITIM-bearing Siglec; the receptor half of the CD24 pair.","whereFound":["Eosinophils, monocytes, an NK subpopulation (UniProt Q96LC7)"],"targetClass":"checkpoint","prevalence":[]},{"id":"sim2","kind":"target","name":"SIM2","aka":["SIM bHLH transcription factor 2","Single-minded homolog 2","MGC119447","bHLHe15"],"tldr":"SIM2 (Single-minded homolog 2) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.85, animal model 0.40, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10883","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10883"},{"label":"UniProt Q14190","url":"https://www.uniprot.org/uniprotkb/Q14190/entry"},{"label":"NCBI Gene 6493","url":"https://www.ncbi.nlm.nih.gov/gene/6493"},{"label":"Ensembl ENSG00000159263","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000159263"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SIM2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10883","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10883","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14190","url":"https://www.uniprot.org/uniprotkb/Q14190/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000159263","url":"https://platform.opentargets.org/target/ENSG00000159263/associations","note":"association with cancer (MONDO_0004992) 0.53; per-cancer scores at or above 0.5: prostate cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10883","ensembl":"ENSG00000159263","uniprot":"Q14190","entrez":"6493","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen et al, Nat. Genet, 1995, \"Single-minded and Down syndrome?\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7647800/","biology":"Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development. Location: Nucleus (UniProt). Locus 21q22.13 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)"],"targetClass":"transcription","prevalence":[]},{"id":"sin3a","kind":"target","name":"SIN3A","aka":["SIN3 transcription regulator family member A","Paired amphipathic helix protein Sin3a","KIAA0700","DKFZP434K2235"],"tldr":"SIN3A (Paired amphipathic helix protein Sin3a) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Diffuse large B-cell lymphoma and Burkitt lymphoma.","summary":"Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonise MYC oncogenic activities.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant. IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Burkitt Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19353","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19353"},{"label":"UniProt Q96ST3","url":"https://www.uniprot.org/uniprotkb/Q96ST3/entry"},{"label":"NCBI Gene 25942","url":"https://www.ncbi.nlm.nih.gov/gene/25942"},{"label":"Ensembl ENSG00000169375","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169375"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["non-hodgkin-lymphoma","dlbcl","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SIN3A","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:19353","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19353","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96ST3","url":"https://www.uniprot.org/uniprotkb/Q96ST3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SIN3A","url":"https://civicdb.org/features/9957","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SIN3A","url":"https://www.intogen.org/search?gene=SIN3A","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SIN3A: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining cervical cancer (2 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q96ST3","url":"https://www.uniprot.org/uniprotkb/Q96ST3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SIN3A","url":"https://civicdb.org/features/9957","note":"2 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma, Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SIN3A","url":"https://www.intogen.org/search?gene=SIN3A","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SIN3A tissue","url":"https://www.proteinatlas.org/ENSG00000169375-SIN3A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169375 associations","url":"https://platform.opentargets.org/target/ENSG00000169375/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:19353","ensembl":"ENSG00000169375","uniprot":"Q96ST3","entrez":"25942","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Guo J.H. et al, 2001.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96ST3/entry","biology":"Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonise MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA. Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. Involved in the control of the circadian rhythms. Location: Nucleus; Nucleus, nucleolus (UniProt). Locus 15q24.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (NHL)","Diffuse large B-cell lymphoma: CIViC evidence names this disease","Burkitt lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (BL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"sirpa","kind":"target","name":"SIRPA","aka":["signal regulatory protein alpha","Tyrosine-protein phosphatase non-receptor type substrate 1","SHPS1","MYD-1","P84","SHPS-1","SIRPalpha","CD172a","SIRPalpha2","SIRP-ALPHA-1","PTPNS1"],"tldr":"SIRPA (Tyrosine-protein phosphatase non-receptor type substrate 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Cervical cancer, Colorectal cancer, Non-Hodgkin lymphoma and 1 more.","summary":"Immunoglobulin-like cell surface receptor for CD47. Acts as docking protein and induces translocation of PTPN6, PTPN11 and other binding partners from the cytosol to the plasma membrane. Supports adhesion of cerebellar neurons, neurite outgrowth and glial cell attachment.\n\nIntOGen calls it a driver in 5 cohorts (4 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Cervical Squamous Cell Carcinoma, Colorectal Adenocarcinoma, High-Grade Glioma, NOS, Malignant Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9662","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9662"},{"label":"UniProt P78324","url":"https://www.uniprot.org/uniprotkb/P78324/entry"},{"label":"NCBI Gene 140885","url":"https://www.ncbi.nlm.nih.gov/gene/140885"},{"label":"Ensembl ENSG00000198053","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198053"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["cervical","colorectal","non-hodgkin-lymphoma","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: High-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SIRPA","role":["oncogene-driver","tumour-suppressor","immune-checkpoint"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:9662","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9662","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P78324","url":"https://www.uniprot.org/uniprotkb/P78324/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SIRPA","url":"https://www.intogen.org/search?gene=SIRPA","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:9662","ensembl":"ENSG00000198053","uniprot":"P78324","entrez":"140885","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamao et al, Biochem. Biophys. Res. Commun, 1997, \"Mouse and human SHPS-1: molecular cloning of cDNAs and chromosomal localization of genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9070220/","biology":"Immunoglobulin-like cell surface receptor for CD47. Acts as docking protein and induces translocation of PTPN6, PTPN11 and other binding partners from the cytosol to the plasma membrane. Supports adhesion of cerebellar neurons, neurite outgrowth and glial cell attachment. May play a key role in intracellular signalling during synaptogenesis and in synaptic function. Involved in the negative regulation of receptor tyrosine kinase-coupled cellular responses induced by cell adhesion, growth factors or insulin. Mediates negative regulation of phagocytosis, mast cell activation and dendritic cell activation. Location: Membrane (UniProt). Locus 20p13 (HGNC).","whereFound":["Cervical cancer: IntOGen driver in 1 cohort (CESC)","Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (MLYM)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"sirt1","kind":"target","name":"SIRT1","aka":["sirtuin 1","NAD-dependent protein deacetylase sirtuin-1","SIR2L1"],"tldr":"SIRT1 (NAD-dependent protein deacetylase sirtuin-1) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma.","summary":"NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metabolism, apoptosis and autophagy. Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression. Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expression positively and negatively.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Niacinamide.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14929","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14929"},{"label":"UniProt Q96EB6","url":"https://www.uniprot.org/uniprotkb/Q96EB6/entry"},{"label":"NCBI Gene 23411","url":"https://www.ncbi.nlm.nih.gov/gene/23411"},{"label":"Ensembl ENSG00000096717","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000096717"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Pancreatic Ductal Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SIRT1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14929","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14929","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96EB6","url":"https://www.uniprot.org/uniprotkb/Q96EB6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SIRT1","url":"https://civicdb.org/features/9538","note":"2 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Ductal Carcinoma, Pancreatic Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA SIRT1: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining cervical cancer (7 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SIRT1 tissue","url":"https://www.proteinatlas.org/ENSG00000096717-SIRT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000096717 associations","url":"https://platform.opentargets.org/target/ENSG00000096717/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14929","ensembl":"ENSG00000096717","uniprot":"Q96EB6","entrez":"23411","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Frye R.A., Biochem. Biophys. Res. Commun, 1999, \"Characterization of five human cDNAs with homology to the yeast SIR2 gene: Sir2-like proteins (sirtuins) metabolize NAD and may have protein ADP-ribosyltransferase activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10381378/","biology":"NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metabolism, apoptosis and autophagy. Can modulate chromatin function through deacetylation of histones and can promote alterations in the methylation of histones and DNA, leading to transcriptional repression. Deacetylates a broad range of transcription factors and coregulators, thereby regulating target gene expression positively and negatively. Serves as a sensor of the cytosolic ratio of NAD(+)/NADH which is altered by glucose deprivation and metabolic changes associated with caloric restriction. Is essential in skeletal muscle cell differentiation and in response to low nutrients mediates the inhibitory effect on skeletal myoblast differentiation which also involves 5'-AMP-activated protein kinase (AMPK) and nicotinamide phosphoribosyltransferase (NAMPT). Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. Location: Nucleus, PML body; Cytoplasm; Nucleus; Nucleus, nucleoplasm (UniProt). Locus 10q21.3 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"six1","kind":"target","name":"SIX1","aka":["SIX homeobox 1","Homeobox protein SIX1","DFNA23"],"tldr":"SIX1 (Homeobox protein SIX1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer and Wilms tumour.","summary":"Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as a transcriptional repressor or activator.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.99, animal model 0.49, genetic association 0.51, somatic mutation 0.89). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Wilms' Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10887","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10887"},{"label":"UniProt Q15475","url":"https://www.uniprot.org/uniprotkb/Q15475/entry"},{"label":"NCBI Gene 6495","url":"https://www.ncbi.nlm.nih.gov/gene/6495"},{"label":"Ensembl ENSG00000126778","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126778"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","wilms-tumor"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SIX1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:10887","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10887","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15475","url":"https://www.uniprot.org/uniprotkb/Q15475/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000126778","url":"https://platform.opentargets.org/target/ENSG00000126778/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: colorectal cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen SIX1","url":"https://www.intogen.org/search?gene=SIX1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:10887","ensembl":"ENSG00000126778","uniprot":"Q15475","entrez":"6495","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Boucher C.A. et al, Genomics, 1996, \"Cloning of the human SIX1 gene and its assignment to chromosome 14\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8617500/","biology":"Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic development. Plays an important role in the development of several organs, including kidney, muscle and inner ear. Depending on context, functions as a transcriptional repressor or activator. Lacks an activation domain, and requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1 and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter and CIDEA enhancer. Location: Nucleus; Cytoplasm (UniProt). Locus 14q23.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Wilms tumour: IntOGen driver in 1 cohort (WT)"],"targetClass":"oncogene","prevalence":[]},{"id":"skil","kind":"target","name":"SKIL","aka":["SKI like proto-oncogene","Ski-like protein","SnoN","SnoA"],"tldr":"SKIL (Ski-like protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"May have regulatory role in cell division or differentiation in response to extracellular signals.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.95, animal model 0.37, genetic association 0.62, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10897","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10897"},{"label":"UniProt P12757","url":"https://www.uniprot.org/uniprotkb/P12757/entry"},{"label":"NCBI Gene 6498","url":"https://www.ncbi.nlm.nih.gov/gene/6498"},{"label":"Ensembl ENSG00000136603","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136603"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SKIL","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10897","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10897","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12757","url":"https://www.uniprot.org/uniprotkb/P12757/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136603","url":"https://platform.opentargets.org/target/ENSG00000136603/associations","note":"association with cancer (MONDO_0004992) 0.52; per-cancer scores at or above 0.5: prostate cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10897","ensembl":"ENSG00000136603","uniprot":"P12757","entrez":"6498","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, Nucleic Acids Res, 1989, \"Isolation of human cDNA clones of ski and the ski-related gene, sno\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2762147/","biology":"May have regulatory role in cell division or differentiation in response to extracellular signals. Locus 3q26.2 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"skp1","kind":"target","name":"SKP1","aka":["S-phase kinase associated protein 1","S-phase kinase-associated protein 1","EMC19","OCP2","TCEB1L","MGC34403","OCP-II","p19A","SKP1A"],"tldr":"SKP1 (S-phase kinase-associated protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.83, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10899","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10899"},{"label":"UniProt P63208","url":"https://www.uniprot.org/uniprotkb/P63208/entry"},{"label":"NCBI Gene 6500","url":"https://www.ncbi.nlm.nih.gov/gene/6500"},{"label":"Ensembl ENSG00000113558","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113558"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SKP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10899","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10899","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P63208","url":"https://www.uniprot.org/uniprotkb/P63208/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000113558","url":"https://platform.opentargets.org/target/ENSG00000113558/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10899","ensembl":"ENSG00000113558","uniprot":"P63208","entrez":"6500","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Golaz et al, 1994.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P63208/entry","biology":"Essential component of the SCF (SKP1-CUL1-F-box protein) ubiquitin ligase complex, which mediates the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. In the SCF complex, serves as an adapter that links the F-box protein to CUL1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signalling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC) directs ubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A, FBXO5, CEP68 and probably NFKB2. Locus 5q31.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"slamf7","kind":"target","name":"SLAMF7 (CS1)","aka":[],"tldr":"A surface protein found on myeloma cells and on natural killer cells. Elotuzumab tags myeloma cells with it while also switching on the natural killer cells that carry it.","summary":"SLAMF7, also known as CS1 or CD319, is a signalling lymphocyte activation molecule family receptor expressed at high levels on malignant plasma cells and on natural killer cells, with little expression on other normal tissues. Elotuzumab, a humanised antibody against SLAMF7, marks myeloma cells for antibody-dependent cellular cytotoxicity and directly activates natural killer cells through the same receptor. It has no single-agent activity but improves outcomes with lenalidomide or pomalidomide plus dexamethasone, the basis of its 2015 and 2018 approvals.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/SLAMF7","links":[{"label":"UniProt Q9NQ25: SLAMF7","url":"https://www.uniprot.org/uniprotkb/Q9NQ25/entry"}],"tags":[],"related":[],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":["elotuzumab"],"companies":[],"institutions":[],"pathways":[],"terms":["adcc"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"SLAMF7","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: 1 antibody (Elotuzumab) aim at the antigen, which HPA finds stained high in 2 normal tissues; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA SLAMF7: RNA tissue enhanced (intestine 31 nTPM, lymphoid tissue 58 nTPM, stomach 1 32 nTPM); high antibody staining in 2 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Multiple myeloma); Open Targets associates it with 1 specific cancer type at or above 0.5 (plasma cell myeloma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SLAMF7 tissue","url":"https://www.proteinatlas.org/ENSG00000026751-SLAMF7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas SLAMF7 pathology","url":"https://www.proteinatlas.org/ENSG00000026751-SLAMF7/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000026751 associations","url":"https://platform.opentargets.org/target/ENSG00000026751/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:21394","ensembl":"ENSG00000026751","uniprot":"Q9NQ25","entrez":"57823","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fujii et al, 1999, \"Homo sapiens mRNA for FOAP-12 protein, complete cds\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9NQ25/entry","biology":"SLAM family receptor signalling through EAT-2 in natural killer cells; highly expressed on plasma cells and myeloma cells.","whereFound":["Multiple myeloma (near-universal expression on malignant plasma cells)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"multiple-myeloma","pct":"over 95","measure":"CS1 (SLAMF7) expression on myeloma cells","source":"https://doi.org/10.1158/1078-0432.CCR-07-4246"}]},{"id":"slc12a2","kind":"target","name":"SLC12A2","aka":["solute carrier family 12 member 2","Solute carrier family 12 member 2","NKCC1","BSC2","BSC-2","PPP1R141","CCC1"],"tldr":"SLC12A2 (Solute carrier family 12 member 2) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Glioma & glioblastoma.","summary":"Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane. Plays a vital role in the regulation of ionic balance and cell volume.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Temozolomide and Antisecretory Factor-enriched Egg Yolk Powder Supplement.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10911","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10911"},{"label":"UniProt P55011","url":"https://www.uniprot.org/uniprotkb/P55011/entry"},{"label":"NCBI Gene 6558","url":"https://www.ncbi.nlm.nih.gov/gene/6558"},{"label":"Ensembl ENSG00000064651","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000064651"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC12A2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10911","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10911","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P55011","url":"https://www.uniprot.org/uniprotkb/P55011/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SLC12A2","url":"https://civicdb.org/features/5323","note":"2 evidence items, 0 assertions, 1 variants; diseases: Glioblastoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SLC12A2: RNA tissue enhanced (salivary gland 71 nTPM); high antibody staining in 13 normal tissues; highest cancer staining colorectal cancer (11 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SLC12A2 tissue","url":"https://www.proteinatlas.org/ENSG00000064651-SLC12A2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000064651 associations","url":"https://platform.opentargets.org/target/ENSG00000064651/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10911","ensembl":"ENSG00000064651","uniprot":"P55011","entrez":"6558","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Payne J.A. et al, J. Biol. Chem, 1995, \"Primary structure, functional expression, and chromosomal localization of the bumetanide-sensitive Na-K-Cl cotransporter in human colon\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7629105/","biology":"Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane. Plays a vital role in the regulation of ionic balance and cell volume. Location: Basolateral cell membrane (UniProt). Locus 5q23.3 (HGNC).","whereFound":["Glioma & glioblastoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"slc14a1","kind":"target","name":"SLC14A1","aka":["solute carrier family 14 member 1 (Kidd blood group)","Urea transporter 1","HsT1341","RACH1","RACH2"],"tldr":"SLC14A1 (Urea transporter 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Mediates the transport of urea driven by a concentration gradient across the cell membrane of erythrocytes. Also mediates the transport of urea across the cell membrane of the renal inner medullary collecting duct which is critical to the urinary concentrating mechanism. Facilitates water transport in erythrocytes.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.87, animal model 0.29, genetic association 0.63).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10918","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10918"},{"label":"UniProt Q13336","url":"https://www.uniprot.org/uniprotkb/Q13336/entry"},{"label":"NCBI Gene 6563","url":"https://www.ncbi.nlm.nih.gov/gene/6563"},{"label":"Ensembl ENSG00000141469","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141469"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC14A1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10918","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10918","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13336","url":"https://www.uniprot.org/uniprotkb/Q13336/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141469","url":"https://platform.opentargets.org/target/ENSG00000141469/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10918","ensembl":"ENSG00000141469","uniprot":"Q13336","entrez":"6563","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Olives et al, J. Biol. Chem, 1994, \"Cloning and functional expression of a urea transporter from human bone marrow cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7989337/","biology":"Mediates the transport of urea driven by a concentration gradient across the cell membrane of erythrocytes. Also mediates the transport of urea across the cell membrane of the renal inner medullary collecting duct which is critical to the urinary concentrating mechanism. Facilitates water transport in erythrocytes. Location: Cell membrane; Basolateral cell membrane (UniProt). Locus 18q12.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"slc22a3","kind":"target","name":"SLC22A3","aka":["solute carrier family 22 member 3","Solute carrier family 22 member 3","OCT3"],"tldr":"SLC22A3 (Solute carrier family 22 member 3) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Electrogenic voltage-dependent uniporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics. Cation cellular uptake or release is driven by the electrochemical potential, i.e. membrane potential and concentration gradient. Functions as a Na(+)- and Cl(-)-independent, bidirectional uniporter.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10967","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10967"},{"label":"UniProt O75751","url":"https://www.uniprot.org/uniprotkb/O75751/entry"},{"label":"NCBI Gene 6581","url":"https://www.ncbi.nlm.nih.gov/gene/6581"},{"label":"Ensembl ENSG00000146477","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000146477"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC22A3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10967","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10967","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75751","url":"https://www.uniprot.org/uniprotkb/O75751/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000146477","url":"https://platform.opentargets.org/target/ENSG00000146477/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: prostate cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10967","ensembl":"ENSG00000146477","uniprot":"O75751","entrez":"6581","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gruendemann et al, Nat. Neurosci, 1998, \"Molecular identification of the corticosterone-sensitive extraneuronal catecholamine transporter\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10196521/","biology":"Electrogenic voltage-dependent uniporter that mediates the transport of a variety of organic cations such as endogenous bioactive amines, cationic drugs and xenobiotics. Cation cellular uptake or release is driven by the electrochemical potential, i.e. membrane potential and concentration gradient. Functions as a Na(+)- and Cl(-)-independent, bidirectional uniporter. Implicated in monoamine neurotransmitters uptake such as dopamine, adrenaline/epinephrine, noradrenaline/norepinephrine, histamine, serotonin and tyramine, thereby supporting a role in homeostatic regulation of aminergic neurotransmission in the brain. Transports dopaminergic neuromodulators cyclo(his-pro) and salsolinol with low efficiency. May be involved in the uptake and disposition of cationic compounds by renal clearance from the blood flow. Location: Cell membrane; Apical cell membrane; Basolateral cell membrane; Mitochondrion membrane (UniProt). Locus 6q25.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.54 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"slc24a5","kind":"target","name":"SLC24A5","aka":["solute carrier family 24 member 5","Sodium/potassium/calcium exchanger 5","OCA6","NCKX5"],"tldr":"SLC24A5 (Sodium/potassium/calcium exchanger 5) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer.","summary":"Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+). Involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-calcium exchanger in melanocytes.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.08, animal model 0.56, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20611","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20611"},{"label":"UniProt Q71RS6","url":"https://www.uniprot.org/uniprotkb/Q71RS6/entry"},{"label":"NCBI Gene 283652","url":"https://www.ncbi.nlm.nih.gov/gene/283652"},{"label":"Ensembl ENSG00000188467","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000188467"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC24A5","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:20611","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20611","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q71RS6","url":"https://www.uniprot.org/uniprotkb/Q71RS6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000188467","url":"https://platform.opentargets.org/target/ENSG00000188467/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: skin cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:20611","ensembl":"ENSG00000188467","uniprot":"Q71RS6","entrez":"283652","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Satoh et al, 2001, \"Cloning and characterization of a novel, renal divalent cation transporter (JSX)\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q71RS6/entry","biology":"Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+). Involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium-calcium exchanger in melanocytes. Location: Golgi apparatus, trans-Golgi network membrane; Melanosome (UniProt). Locus 15q21.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)"],"targetClass":"other","prevalence":[]},{"id":"slc25a11","kind":"target","name":"SLC25A11","aka":["solute carrier family 25 member 11","Mitochondrial 2-oxoglutarate/malate carrier protein","SLC20A4"],"tldr":"SLC25A11 (Mitochondrial 2-oxoglutarate/malate carrier protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Neuroendocrine tumours.","summary":"Catalyses the transport of 2-oxoglutarate (alpha-oxoglutarate) across the inner mitochondrial membrane in an electroneutral exchange for malate. Can also exchange 2-oxoglutarate for other dicarboxylic acids such as malonate, succinate, maleate and oxaloacetate, although with lower affinity. Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10981","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10981"},{"label":"UniProt Q02978","url":"https://www.uniprot.org/uniprotkb/Q02978/entry"},{"label":"NCBI Gene 8402","url":"https://www.ncbi.nlm.nih.gov/gene/8402"},{"label":"Ensembl ENSG00000108528","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108528"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC25A11","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10981","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10981","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02978","url":"https://www.uniprot.org/uniprotkb/Q02978/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108528","url":"https://platform.opentargets.org/target/ENSG00000108528/associations","note":"per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.69 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10981","ensembl":"ENSG00000108528","uniprot":"Q02978","entrez":"8402","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Iacobazzi et al, DNA Seq, 1992, \"Sequences of the human and bovine genes for the mitochondrial 2-oxoglutarate carrier\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1457818/","biology":"Catalyses the transport of 2-oxoglutarate (alpha-oxoglutarate) across the inner mitochondrial membrane in an electroneutral exchange for malate. Can also exchange 2-oxoglutarate for other dicarboxylic acids such as malonate, succinate, maleate and oxaloacetate, although with lower affinity. Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction. Does not transport glutathione. In addition can facilitate proton transport in the presence of protonophores such as long-chain fatty acids, contributing to mitochondrial uncoupling and regulation of mitochondrial energetic efficiency. Contributes to several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, gluconeogenesis from lactate, and nitrogen metabolism. Location: Mitochondrion inner membrane (UniProt). Locus 17p13.2 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.69 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"other","prevalence":[]},{"id":"slc29a1","kind":"target","name":"SLC29A1","aka":["solute carrier family 29 member 1 (Augustine blood group)","Equilibrative nucleoside transporter 1","ENT1"],"tldr":"SLC29A1 (Equilibrative nucleoside transporter 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma.","summary":"Uniporter involved in the facilitative transport of nucleosides and nucleobases, and contributes to maintaining their cellular homeostasis. Functions as a Na(+)-independent transporter. Involved in the transport of nucleosides such as adenosine, guanosine, inosine, uridine, thymidine and cytidine.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Gemcitabine.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11003","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11003"},{"label":"UniProt Q99808","url":"https://www.uniprot.org/uniprotkb/Q99808/entry"},{"label":"NCBI Gene 2030","url":"https://www.ncbi.nlm.nih.gov/gene/2030"},{"label":"Ensembl ENSG00000112759","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112759"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC29A1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11003","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11003","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99808","url":"https://www.uniprot.org/uniprotkb/Q99808/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SLC29A1","url":"https://civicdb.org/features/1701","note":"1 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Adenocarcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA SLC29A1: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 1,049 nTPM); high antibody staining in 6 normal tissues; highest cancer staining thyroid cancer (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SLC29A1 tissue","url":"https://www.proteinatlas.org/ENSG00000112759-SLC29A1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000112759 associations","url":"https://platform.opentargets.org/target/ENSG00000112759/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11003","ensembl":"ENSG00000112759","uniprot":"Q99808","entrez":"2030","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Griffiths et al, Nat. Med, 1997, \"Cloning of a human nucleoside transporter implicated in the cellular uptake of adenosine and chemotherapeutic drugs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8986748/","biology":"Uniporter involved in the facilitative transport of nucleosides and nucleobases, and contributes to maintaining their cellular homeostasis. Functions as a Na(+)-independent transporter. Involved in the transport of nucleosides such as adenosine, guanosine, inosine, uridine, thymidine and cytidine. Also transports purine nucleobases (hypoxanthine, adenine, guanine) and pyrimidine nucleobases (thymine, uracil). Also mediates the uptake of nicotinamide; contributes to maintaining nicotinamide homeostasis but also regulated nicotinamide biological roles. Mediates basolateral nucleoside uptake into Sertoli cells, thereby regulating the transport of nucleosides in testis across the blood-testis barrier. Location: Basolateral cell membrane; Apical cell membrane; Cell membrane (UniProt). Locus 6p21.1 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"slc34a2","kind":"target","name":"SLC34A2","aka":["solute carrier family 34 member 2","Sodium-dependent phosphate transport protein 2B","NAPI-3B","NaPi-2b","NPTIIb","NaPi2b","NAPI-IIb"],"tldr":"SLC34A2 (Sodium-dependent phosphate transport protein 2B) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Colorectal cancer, Non-small-cell lung cancer and 1 more.","summary":"Involved in actively transporting phosphate into cells via Na(+) cotransport.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes clinical 0.15, literature 0.96, genetic association 0.48, somatic mutation 0.86, animal model 0.28). IntOGen calls it a driver in 3 cohorts (2 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Colorectal Adenocarcinoma, Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11020","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11020"},{"label":"UniProt O95436","url":"https://www.uniprot.org/uniprotkb/O95436/entry"},{"label":"NCBI Gene 10568","url":"https://www.ncbi.nlm.nih.gov/gene/10568"},{"label":"Ensembl ENSG00000157765","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000157765"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","colorectal","nsclc","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.15; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC34A2","role":["drug-target","oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11020","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11020","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95436","url":"https://www.uniprot.org/uniprotkb/O95436/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000157765","url":"https://platform.opentargets.org/target/ENSG00000157765/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.57, lung cancer 0.60 (GraphQL API, CC0)"},{"label":"IntOGen SLC34A2","url":"https://www.intogen.org/search?gene=SLC34A2","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SLC34A2: RNA tissue enriched (lung 710 nTPM); high antibody staining in 4 normal tissues; highest cancer staining endometrial cancer (3 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Colorectal cancer, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O95436","url":"https://www.uniprot.org/uniprotkb/O95436/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SLC34A2","url":"https://www.intogen.org/search?gene=SLC34A2","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SLC34A2 tissue","url":"https://www.proteinatlas.org/ENSG00000157765-SLC34A2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157765 associations","url":"https://platform.opentargets.org/target/ENSG00000157765/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11020","ensembl":"ENSG00000157765","uniprot":"O95436","entrez":"10568","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Feild J.A. et al, Biochem. Biophys. Res. Commun, 1999, \"Cloning and functional characterization of a sodium-dependent phosphate transporter expressed in human lung and small intestine\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10329428/","biology":"Involved in actively transporting phosphate into cells via Na(+) cotransport. Location: Apical cell membrane (UniProt). Locus 4p15.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)","Non-small-cell lung cancer: Open Targets association 0.57 with non-small cell lung carcinoma (MONDO_0005233); IntOGen driver in 1 cohort (LUAD)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"slc45a2","kind":"target","name":"SLC45A2","aka":["solute carrier family 45 member 2","Membrane-associated transporter protein","AIM-1","OCA4"],"tldr":"SLC45A2 (Membrane-associated transporter protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Melanoma and Basal cell carcinoma.","summary":"Proton-associated glucose and sucrose transporter. May be able to transport also fructose. Expressed at a late melanosome maturation stage where functions as proton/glucose exporter which increase lumenal pH by decreasing glycolysis.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.90, animal model 0.47, genetic association 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16472","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16472"},{"label":"UniProt Q9UMX9","url":"https://www.uniprot.org/uniprotkb/Q9UMX9/entry"},{"label":"NCBI Gene 51151","url":"https://www.ncbi.nlm.nih.gov/gene/51151"},{"label":"Ensembl ENSG00000164175","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164175"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","melanoma","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC45A2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16472","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16472","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UMX9","url":"https://www.uniprot.org/uniprotkb/Q9UMX9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164175","url":"https://platform.opentargets.org/target/ENSG00000164175/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: melanoma 0.55, skin cancer 0.59, basal cell carcinoma 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16472","ensembl":"ENSG00000164175","uniprot":"Q9UMX9","entrez":"51151","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Harada et al, Cancer Res, 2001, \"Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA-A*0201-restricted T cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11221837/","biology":"Proton-associated glucose and sucrose transporter. May be able to transport also fructose. Expressed at a late melanosome maturation stage where functions as proton/glucose exporter which increase lumenal pH by decreasing glycolysis. Regulates melanogenesis by maintaining melanosome neutralisation that is initially initiated by transient OCA2 and required for a proper function of the tyrosinase TYR. Location: Melanosome membrane (UniProt). Locus 5p13.2 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.59 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)","Basal cell carcinoma: Open Targets association 0.51 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"other","prevalence":[]},{"id":"slc67a1","kind":"target","name":"SLC67A1","aka":["solute carrier family 67 member 1","Solute carrier family 67 member A1","BWR1A","TSSC5","IMPT1","ORCTL2","BWSCR1A","SLC22A18","SLC22A1L"],"tldr":"SLC67A1 (Solute carrier family 67 member A1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney. Plays a role in the regulation of lipid metabolism.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes genetic literature 0.38, affected pathway 0.76, literature 0.89, genetic association 0.09, somatic mutation 0.71, animal model 0.35).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10964","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10964"},{"label":"UniProt Q96BI1","url":"https://www.uniprot.org/uniprotkb/Q96BI1/entry"},{"label":"NCBI Gene 5002","url":"https://www.ncbi.nlm.nih.gov/gene/5002"},{"label":"Ensembl ENSG00000110628","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110628"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC67A1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10964","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10964","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96BI1","url":"https://www.uniprot.org/uniprotkb/Q96BI1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000110628","url":"https://platform.opentargets.org/target/ENSG00000110628/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10964","ensembl":"ENSG00000110628","uniprot":"Q96BI1","entrez":"5002","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee M.P. et al, Cancer Res, 1998, \"Somatic mutation of TSSC5, a novel imprinted gene from human chromosome 11p15.5\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9751628/","biology":"May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney. Plays a role in the regulation of lipid metabolism. Location: Apical cell membrane (UniProt). Locus 11p15.4 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"slc6a2","kind":"target","name":"SLC6A2","aka":["solute carrier family 6 member 2","Sodium-dependent noradrenaline transporter","NET1","NAT1","SLC6A5"],"tldr":"SLC6A2 (Sodium-dependent noradrenaline transporter) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours.","summary":"Mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline), the primary signalling neurotransmitter in the autonomic sympathetic nervous system. Is responsible for norepinephrine re-uptake and clearance from the synaptic cleft, thus playing a crucial role in norepinephrine inactivation and homeostasis. Can also mediate sodium- and chloride-dependent transport of dopamine.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.23, genetic association 0.00, clinical 0.86).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11048","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11048"},{"label":"UniProt P23975","url":"https://www.uniprot.org/uniprotkb/P23975/entry"},{"label":"NCBI Gene 6530","url":"https://www.ncbi.nlm.nih.gov/gene/6530"},{"label":"Ensembl ENSG00000103546","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103546"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC6A2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11048","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11048","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23975","url":"https://www.uniprot.org/uniprotkb/P23975/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000103546","url":"https://platform.opentargets.org/target/ENSG00000103546/associations","note":"association with cancer (MONDO_0004992) 0.53; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.58 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SLC6A2: RNA tissue enhanced (adrenal gland 10 nTPM, placenta 6 nTPM, skin 1 4 nTPM); high antibody staining in 3 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); Open Targets associates it with 3 specific cancer types at or above 0.5 (paraganglioma, adrenal gland pheochromocytoma, pheochromocytoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SLC6A2 tissue","url":"https://www.proteinatlas.org/ENSG00000103546-SLC6A2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000103546 associations","url":"https://platform.opentargets.org/target/ENSG00000103546/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11048","ensembl":"ENSG00000103546","uniprot":"P23975","entrez":"6530","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pacholczyk et al, Nature, 1991, \"Expression cloning of a cocaine- and antidepressant-sensitive human noradrenaline transporter\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2008212/","biology":"Mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline), the primary signalling neurotransmitter in the autonomic sympathetic nervous system. Is responsible for norepinephrine re-uptake and clearance from the synaptic cleft, thus playing a crucial role in norepinephrine inactivation and homeostasis. Can also mediate sodium- and chloride-dependent transport of dopamine. Location: Cell membrane; Cell projection, axon; Synapse, synaptosome (UniProt). Locus 16q12.2 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.58 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"other","prevalence":[]},{"id":"slc6a3","kind":"target","name":"SLC6A3","aka":["solute carrier family 6 member 3","Sodium-dependent dopamine transporter","DAT1"],"tldr":"SLC6A3 (Sodium-dependent dopamine transporter) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Mediates sodium- and chloride-dependent transport of dopamine. Also mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline). Regulator of light-dependent retinal hyaloid vessel regression, downstream of OPN5 signalling.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.83, animal model 0.53, genetic association 0.00, clinical 0.88).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11049","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11049"},{"label":"UniProt Q01959","url":"https://www.uniprot.org/uniprotkb/Q01959/entry"},{"label":"NCBI Gene 6531","url":"https://www.ncbi.nlm.nih.gov/gene/6531"},{"label":"Ensembl ENSG00000142319","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000142319"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.88. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC6A3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11049","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11049","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01959","url":"https://www.uniprot.org/uniprotkb/Q01959/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000142319","url":"https://platform.opentargets.org/target/ENSG00000142319/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SLC6A3: RNA tissue enriched (brain 93 nTPM); high antibody staining in 2 normal tissues; highest cancer staining thyroid cancer (1 of 4 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SLC6A3 tissue","url":"https://www.proteinatlas.org/ENSG00000142319-SLC6A3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000142319 associations","url":"https://platform.opentargets.org/target/ENSG00000142319/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11049","ensembl":"ENSG00000142319","uniprot":"Q01959","entrez":"6531","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vandenbergh D.J. et al, Brain Res. Mol. Brain Res, 1992, \"A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1359373/","biology":"Mediates sodium- and chloride-dependent transport of dopamine. Also mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline). Regulator of light-dependent retinal hyaloid vessel regression, downstream of OPN5 signalling. Location: Cell membrane; Cell projection, neuron projection; Cell projection, axon (UniProt). Locus 5p15.33 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"slc6a4","kind":"target","name":"SLC6A4","aka":["solute carrier family 6 member 4","Sodium-dependent serotonin transporter","5-HTT","SERT1","OCD1"],"tldr":"SLC6A4 (Sodium-dependent serotonin transporter) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"Serotonin transporter that cotransports serotonin with one Na(+) ion in exchange for one K(+) ion and possibly one proton in an overall electroneutral transport cycle. Transports serotonin across the plasma membrane from the extracellular compartment to the cytosol thus limiting serotonin intercellular signalling. Essential for serotonin homeostasis in the central nervous system.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.71, animal model 0.28, genetic association 0.00, clinical 0.83).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11050","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11050"},{"label":"UniProt P31645","url":"https://www.uniprot.org/uniprotkb/P31645/entry"},{"label":"NCBI Gene 6532","url":"https://www.ncbi.nlm.nih.gov/gene/6532"},{"label":"Ensembl ENSG00000108576","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108576"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.83. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLC6A4","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11050","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11050","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31645","url":"https://www.uniprot.org/uniprotkb/P31645/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108576","url":"https://platform.opentargets.org/target/ENSG00000108576/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SLC6A4: RNA group enriched (intestine 38 nTPM, lung 27 nTPM, placenta 17 nTPM); high antibody staining in 3 normal tissues; highest cancer staining ovarian cancer (1 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SLC6A4 tissue","url":"https://www.proteinatlas.org/ENSG00000108576-SLC6A4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108576 associations","url":"https://platform.opentargets.org/target/ENSG00000108576/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11050","ensembl":"ENSG00000108576","uniprot":"P31645","entrez":"6532","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lesch K.P. et al, J. Neural Transm, 1993, \"Isolation of a cDNA encoding the human brain serotonin transporter\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8452685/","biology":"Serotonin transporter that cotransports serotonin with one Na(+) ion in exchange for one K(+) ion and possibly one proton in an overall electroneutral transport cycle. Transports serotonin across the plasma membrane from the extracellular compartment to the cytosol thus limiting serotonin intercellular signalling. Essential for serotonin homeostasis in the central nervous system. In the developing somatosensory cortex, acts in glutamatergic neurons to control serotonin uptake and its trophic functions accounting for proper spatial organisation of cortical neurons and elaboration of sensory circuits. In the mature cortex, acts primarily in brainstem raphe neurons to mediate serotonin uptake from the synaptic cleft back into the pre-synaptic terminal thus terminating serotonin signalling at the synapse. Modulates mucosal serotonin levels in the gastrointestinal tract through uptake and clearance of serotonin in enterocytes. Location: Cell membrane; Endomembrane system; Endosome membrane; Synapse (UniProt). Locus 17q11.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"slco1b1","kind":"target","name":"SLCO1B1","aka":["solute carrier organic anion transporter family member 1B1","Solute carrier organic anion transporter family member 1B1","OATP-C","LST-1","OATP1B1","SLC21A6"],"tldr":"SLCO1B1 (Solute carrier organic anion transporter family member 1B1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Mediates the Na(+)-independent uptake of organic anions. Shows broad substrate specificity, can transport both organic anions such as bile acid taurocholate (cholyltaurine) and conjugated steroids (dehydroepiandrosterone 3-sulfate, 17-beta-glucuronosyl estradiol, and estrone 3-sulfate), as well as eicosanoids (prostaglandin E2, thromboxane B2, leukotriene C4, and leukotriene E4), and thyroid hormones (T4/L-thyroxine, and T3/3,3',5'-triiodo-L-thyronine). Can take up bilirubin glucuronides from plasma into the liver, contributing to the detoxification-enhancing liver-blood shuttling loop.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Methotrexate.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10959","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10959"},{"label":"UniProt Q9Y6L6","url":"https://www.uniprot.org/uniprotkb/Q9Y6L6/entry"},{"label":"NCBI Gene 10599","url":"https://www.ncbi.nlm.nih.gov/gene/10599"},{"label":"Ensembl ENSG00000134538","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134538"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLCO1B1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10959","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10959","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6L6","url":"https://www.uniprot.org/uniprotkb/Q9Y6L6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SLCO1B1","url":"https://civicdb.org/features/8450","note":"2 evidence items, 0 assertions, 2 variants; diseases: Cancer (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SLCO1B1: RNA tissue enriched (liver 502 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SLCO1B1 tissue","url":"https://www.proteinatlas.org/ENSG00000134538-SLCO1B1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000134538 associations","url":"https://platform.opentargets.org/target/ENSG00000134538/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10959","ensembl":"ENSG00000134538","uniprot":"Q9Y6L6","entrez":"10599","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Abe et al, J. Biol. Chem, 1999, \"Identification of a novel gene family encoding human liver-specific organic anion transporter LST-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10358072/","biology":"Mediates the Na(+)-independent uptake of organic anions. Shows broad substrate specificity, can transport both organic anions such as bile acid taurocholate (cholyltaurine) and conjugated steroids (dehydroepiandrosterone 3-sulfate, 17-beta-glucuronosyl estradiol, and estrone 3-sulfate), as well as eicosanoids (prostaglandin E2, thromboxane B2, leukotriene C4, and leukotriene E4), and thyroid hormones (T4/L-thyroxine, and T3/3,3',5'-triiodo-L-thyronine). Can take up bilirubin glucuronides from plasma into the liver, contributing to the detoxification-enhancing liver-blood shuttling loop. Involved in the clearance of endogenous and exogenous substrates from the liver. Transports coproporphyrin I and III, by-products of heme synthesis, and may be involved in their hepatic disposition. May contribute to regulate the transport of organic compounds in testes across the blood-testis-barrier. Location: Basolateral cell membrane; Basal cell membrane (UniProt). Locus 12p12.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"slfn11","kind":"target","name":"SLFN11","aka":["schlafen family member 11","Schlafen family member 11","FLJ34922"],"tldr":"SLFN11 (Schlafen family member 11) is an enzyme. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Ewing sarcoma and Small-cell lung cancer.","summary":"Inhibitor of DNA replication that promotes cell death in response to DNA damage. Acts as a guardian of the genome by killing cells with defective replication. Persistently blocks stressed replication forks by opening chromatin across replication initiation sites at stressed replication forks, possibly leading to unwind DNA ahead of the MCM helicase and block fork progression, ultimately leading to cell death.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Temozolomide, 7-Ethyl-10-Hydroxycamptothecin, Talazoparib and Niraparib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26633","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26633"},{"label":"UniProt Q7Z7L1","url":"https://www.uniprot.org/uniprotkb/Q7Z7L1/entry"},{"label":"NCBI Gene 91607","url":"https://www.ncbi.nlm.nih.gov/gene/91607"},{"label":"Ensembl ENSG00000172716","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172716"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal","ewing-sarcoma","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 4 therapies; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA damage\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLFN11","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:26633","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26633","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z7L1","url":"https://www.uniprot.org/uniprotkb/Q7Z7L1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SLFN11","url":"https://civicdb.org/features/16872","note":"3 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer, Ewing Sarcoma, Lung Small Cell Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA SLFN11: RNA low tissue specificity; no normal tissue stained high; highest cancer staining melanoma (1 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Sarcomas (soft tissue, bone, GIST), Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SLFN11 tissue","url":"https://www.proteinatlas.org/ENSG00000172716-SLFN11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000172716 associations","url":"https://platform.opentargets.org/target/ENSG00000172716/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:26633","ensembl":"ENSG00000172716","uniprot":"Q7Z7L1","entrez":"91607","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Inhibitor of DNA replication that promotes cell death in response to DNA damage. Acts as a guardian of the genome by killing cells with defective replication. Persistently blocks stressed replication forks by opening chromatin across replication initiation sites at stressed replication forks, possibly leading to unwind DNA ahead of the MCM helicase and block fork progression, ultimately leading to cell death. Upon DNA damage, inhibits translation of ATR or ATM based on distinct codon usage without disrupting early DNA damage response signalling. Antiviral restriction factor with manganese-dependent type II tRNA endoribonuclease. A single tRNA molecule is bound and cleaved by the SLFN11 dimer. Location: Nucleus; Chromosome (UniProt). Locus 17q12 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Ewing sarcoma: CIViC evidence names this disease","Small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},{"id":"slx4","kind":"target","name":"SLX4","aka":["SLX4 structure-specific endonuclease subunit","Structure-specific endonuclease subunit SLX4","KIAA1784","KIAA1987","FANCP","BTBD12"],"tldr":"SLX4 (Structure-specific endonuclease subunit SLX4) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Myelodysplastic syndromes / neoplasms, Leukaemia, Myeloproliferative neoplasms and 1 more.","summary":"Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.58, animal model 0.26, genetic association 0.53, genetic literature 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23845","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23845"},{"label":"UniProt Q8IY92","url":"https://www.uniprot.org/uniprotkb/Q8IY92/entry"},{"label":"NCBI Gene 84464","url":"https://www.ncbi.nlm.nih.gov/gene/84464"},{"label":"Ensembl ENSG00000188827","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000188827"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["mds","leukaemia","myeloproliferative-neoplasms","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SLX4","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23845","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23845","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IY92","url":"https://www.uniprot.org/uniprotkb/Q8IY92/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000188827","url":"https://platform.opentargets.org/target/ENSG00000188827/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.51, myelodysplastic syndrome 0.51, myeloproliferative neoplasm 0.51, leukaemia 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:23845","ensembl":"ENSG00000188827","uniprot":"Q8IY92","entrez":"84464","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11853319/","biology":"Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Location: Nucleus (UniProt). Locus 16p13.3 (HGNC).","whereFound":["Myelodysplastic syndromes / neoplasms: Open Targets association 0.51 with myelodysplastic syndrome (MONDO_0018881)","Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.51 with myeloproliferative neoplasm (MONDO_0020076)","Acute myeloid leukaemia: Open Targets association 0.51 with acute myeloid leukaemia (MONDO_0018874)"],"targetClass":"other","prevalence":[]},{"id":"smad2","kind":"target","name":"SMAD2","aka":["SMAD family member 2","MADR2","JV18-1","MADH2"],"tldr":"SMAD2 (SMAD family member 2) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Colorectal cancer, Skin cancer, Gastric & gastro-oesophageal junction cancer and 1 more.","summary":"Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. Promotes TGFB1-mediated transcription of odontoblastic differentiation genes in dental papilla cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.76, genetic association 0.59, somatic mutation 0.94). IntOGen calls it a driver in 5 cohorts (2 activating, 3 loss-of-function), covering Colon Adenocarcinoma, Colorectal Adenocarcinoma. In OnCo, 1 product record names it (Luspatercept).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6768"},{"label":"UniProt Q15796","url":"https://www.uniprot.org/uniprotkb/Q15796/entry"},{"label":"NCBI Gene 4087","url":"https://www.ncbi.nlm.nih.gov/gene/4087"},{"label":"Ensembl ENSG00000175387","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000175387"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","skin-cancer","gastric","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["luspatercept"],"companies":[],"institutions":[],"pathways":["tgf-beta"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 1 OnCo product record names it; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMAD2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:6768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6768","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15796","url":"https://www.uniprot.org/uniprotkb/Q15796/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMAD2","url":"https://civicdb.org/features/3375","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000175387","url":"https://platform.opentargets.org/target/ENSG00000175387/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: colorectal cancer 0.67, gastric cancer 0.52, melanoma 0.55, skin cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen SMAD2","url":"https://www.intogen.org/search?gene=SMAD2","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (Luspatercept), an alteration absent from normal cells. HPA SMAD2: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining colorectal cancer (4 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Skin cancer (all types), Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (colorectal adenocarcinoma). (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"COMMANDS (Lancet 2023)","url":"https://doi.org/10.1016/S0140-6736(23)00874-7"},{"label":"Human Protein Atlas SMAD2 tissue","url":"https://www.proteinatlas.org/ENSG00000175387-SMAD2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000175387 associations","url":"https://platform.opentargets.org/target/ENSG00000175387/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6768","ensembl":"ENSG00000175387","uniprot":"Q15796","entrez":"4087","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Riggins G.J. et al, Nat. Genet, 1996, \"Mad-related genes in the human\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8673135/","biology":"Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. Promotes TGFB1-mediated transcription of odontoblastic differentiation genes in dental papilla cells. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. May act as a tumour suppressor in colorectal carcinoma. Location: Cytoplasm; Nucleus (UniProt). Locus 18q21.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.67 with colorectal cancer (MONDO_0005575); IntOGen driver in 5 cohorts (COAD, COADREAD)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"smad3","kind":"target","name":"SMAD3","aka":["SMAD family member 3","JV15-2","HsT17436","MADH3"],"tldr":"SMAD3 (SMAD family member 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Pancreatic ductal adenocarcinoma, Skin cancer and 4 more.","summary":"Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes genetic literature 0.30, affected pathway 0.76, literature 0.99, genetic association 0.80, somatic mutation 0.89, animal model 0.47). IntOGen calls it a driver in 4 cohorts (0 activating, 4 loss-of-function), covering Colorectal Adenocarcinoma, Pancreatic Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6769","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6769"},{"label":"UniProt P84022","url":"https://www.uniprot.org/uniprotkb/P84022/entry"},{"label":"NCBI Gene 4088","url":"https://www.ncbi.nlm.nih.gov/gene/4088"},{"label":"Ensembl ENSG00000166949","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166949"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","pancreatic","skin-cancer","breast-cancer","thyroid","lung-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMAD3","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6769","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6769","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P84022","url":"https://www.uniprot.org/uniprotkb/P84022/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMAD3","url":"https://civicdb.org/features/3376","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000166949","url":"https://platform.opentargets.org/target/ENSG00000166949/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.68, melanoma 0.53, thyroid cancer 0.53, skin cancer 0.55, breast cancer 0.54, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen SMAD3","url":"https://www.intogen.org/search?gene=SMAD3","note":"driver in 4 cohorts (Act 0, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SMAD3: RNA low tissue specificity; high antibody staining in 27 normal tissues; highest cancer staining renal cancer (12 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Pancreatic ductal adenocarcinoma, Skin cancer (all types), Breast cancer (all types), Thyroid cancer, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (thyroid gland carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P84022","url":"https://www.uniprot.org/uniprotkb/P84022/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMAD3","url":"https://civicdb.org/features/3376","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen SMAD3","url":"https://www.intogen.org/search?gene=SMAD3","note":"driver in 4 cohorts (Act 0, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SMAD3 tissue","url":"https://www.proteinatlas.org/ENSG00000166949-SMAD3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000166949 associations","url":"https://platform.opentargets.org/target/ENSG00000166949/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6769","ensembl":"ENSG00000166949","uniprot":"P84022","entrez":"4088","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, Nature, 1996, \"Receptor-associated Mad homologues synergize as effectors of the TGF-beta response\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8774881/","biology":"Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Location: Cytoplasm; Nucleus (UniProt). Locus 15q22.33 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.68 with colorectal cancer (MONDO_0005575); IntOGen driver in 3 cohorts (COADREAD)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Thyroid cancer: Open Targets association 0.53 with thyroid cancer (MONDO_0002108)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"smad4","kind":"target","name":"SMAD4","aka":["SMAD family member 4","DPC4","MADH4"],"tldr":"SMAD4 (SMAD family member 4) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Oesophageal cancer and 5 more.","summary":"In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8.\n\nCIViC holds 31 clinical evidence items and 0 assertions across 20 variants, naming Cetuximab, Trametinib, Bevacizumab and Panitumumab and others. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes genetic literature 0.56, affected pathway 0.61, literature 0.99, genetic association 0.89, somatic mutation 0.97, animal model 0.85). IntOGen calls it a driver in 37 cohorts (10 activating, 27 loss-of-function), covering Invasive Breast Carcinoma, Cervical Squamous Cell Carcinoma, Cholangiocarcinoma, Colon Adenocarcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6770","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6770"},{"label":"UniProt Q13485","url":"https://www.uniprot.org/uniprotkb/Q13485/entry"},{"label":"NCBI Gene 4089","url":"https://www.ncbi.nlm.nih.gov/gene/4089"},{"label":"Ensembl ENSG00000141646","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141646"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","gastric","esophageal","pancreatic","biliary-tract-cancer","prostate","head-and-neck","breast-cancer","gallbladder"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["colorectal-cancer-signalling","pancreatic-cancer-signalling","tgf-beta"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-noe-cyst-malignant-progression-genomics-nat-commun-2020","paper-iacobuzio-donahue-dpc4-failure-pattern-autopsy-jco-2009","paper-crane-smad4-progression-pattern-locally-advanced-jco-2011","paper-qian-driver-genes-outcomes-resected-pancreatic-jama-oncol-2018","paper-vogelstein-genetic-alterations-colorectal-tumor-development-nejm-1988","paper-narayan-gallbladder-regional-mutations-cancer-2019","paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-cowzer-biliary-targeted-therapy-determinants-ccr-2026"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 11 therapies; IntOGen calls it an activating (Act) driver in 10 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 27 cohorts; CIViC holds 31 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Juvenile Polyposis Syndrome.","Pancreatic ductal adenocarcinoma: lost in 17 to 33% (cBioPortal). Loss is the marker of the metastatic pattern of failure: at autopsy Dpc4 loss went with widespread metastasis and intact Dpc4 with locally destructive disease (Iacobuzio-Donahue 2009), and intact Smad4 on diagnostic cytology predicted local-dominant progression in locally advanced patients (Crane 2011). SMAD4 and TGFBR2 mutations mark the invasive step in cyst progression (Noe 2020) but did not predict survival after resection (Qian 2018).","Colorectal cancer: lost by mutation or 18q deep deletion in 12 to 16%. The 18q event was the third step of the classical sequence, present in 73% of carcinomas and 47% of advanced adenomas against 11 to 13% of earlier adenomas (Vogelstein 1988). It is a chromosomal-instability event, so it is rare in the hypermutated classes (11.8% against 15.2%; cBioPortal), and SMAD2 and SMAD3 are deleted alongside it.","Gallbladder cancer: SMAD4 mutation was found at similar rates in Chile (38%), Japan (36%) and the United States (27%) and went with shorter survival, 10 versus 25 months (Narayan 2019); independently associated with reduced survival in metastatic disease (Giraldo 2022)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMAD4","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6770","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6770","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13485","url":"https://www.uniprot.org/uniprotkb/Q13485/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMAD4","url":"https://civicdb.org/features/77","note":"31 evidence items, 0 assertions, 20 variants; diseases: Pancreatic Cancer, Colorectal Cancer, Prostate Cancer, Juvenile Polyposis Syndrome, Lung Non-small Cell Carcinoma and 3 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000141646","url":"https://platform.opentargets.org/target/ENSG00000141646/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.50, colorectal cancer 0.79, gastric cancer 0.62, oesophageal cancer 0.65, gallbladder cancer 0.50, lung cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen SMAD4","url":"https://www.intogen.org/search?gene=SMAD4","note":"driver in 37 cohorts (Act 10, LoF 27); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SMAD4: RNA low tissue specificity; high antibody staining in 7 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Oesophageal cancer, Pancreatic ductal adenocarcinoma, Prostate cancer, Head and neck squamous cell carcinoma and more); Open Targets associates it with 9 specific cancer types at or above 0.5 (juvenile polyposis syndrome, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, generalized juvenile polyposis/juvenile polyposis coli, familial pancreatic carcinoma, colorectal adenocarcinoma, pancreatic adenocarcinoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q13485","url":"https://www.uniprot.org/uniprotkb/Q13485/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMAD4","url":"https://civicdb.org/features/77","note":"31 evidence items, 0 assertions, 20 variants; diseases: Pancreatic Cancer, Colorectal Cancer, Prostate Cancer, Juvenile Polyposis Syndrome, Lung Non-small Cell Carcinoma and 3 more (GraphQL API, CC0)"},{"label":"IntOGen SMAD4","url":"https://www.intogen.org/search?gene=SMAD4","note":"driver in 37 cohorts (Act 10, LoF 27); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SMAD4 tissue","url":"https://www.proteinatlas.org/ENSG00000141646-SMAD4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000141646 associations","url":"https://platform.opentargets.org/target/ENSG00000141646/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6770","ensembl":"ENSG00000141646","uniprot":"Q13485","entrez":"4089","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hahn S.A. et al, Science, 1996, \"DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8553070/","biology":"In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8. Acts synergistically with SMAD1 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression. Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions. Common SMAD (co-SMAD) is the coactivator and mediator of signal transduction by TGF-beta (transforming growth factor). Location: Cytoplasm; Nucleus (UniProt). Locus 18q21.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.79 with colorectal cancer (MONDO_0005575); CIViC evidence names this disease","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.62 with gastric cancer (MONDO_0001056); IntOGen driver in 5 cohorts (STAD, STOMACH)","Oesophageal cancer: Open Targets association 0.65 with oesophageal cancer (MONDO_0007576); IntOGen driver in 5 cohorts (ESCA, ESCC)","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease; IntOGen driver in 8 cohorts (PAAD, PANCREAS)","Biliary tract cancer: Open Targets association 0.63 with biliary tract cancer (MONDO_0003060)","Prostate cancer: CIViC evidence names this disease; IntOGen driver in 2 cohorts (PRAD, PROSTATE)","Pancreatic ductal adenocarcinoma: mutation or deep deletion 17-33%","Colorectal cancer: mutation or deep deletion (18q loss) 12-16%","Gallbladder cancer: mutation or deletion 21-38%"],"targetClass":"transcription","prevalence":[{"cancerId":"pancreatic","pct":"17-33","measure":"Mutation or deep deletion","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal: mutation in 512 of 2,336, 21.9%, and deep deletion in 102, 4.4%, in pdac_msk_2024 (R361H 30, R361C 26, R445* 15); 86 of 383, 22.5%, in paad_qcmg_uq_2016; mutation 37 of 179, 20.7%, and deep deletion 23 of 183, 12.6%, in paad_tcga_pan_can_atlas_2018; mutation 21 and deep deletion 32 of 109 in paad_utsw_2015; 68 of 395, 17.2%, plus 10 deletions in pancreas_msk_2024; 24 of 140, 17.1%, in paad_cptac_2021. TGFBR2 mutation in 91 of 2,336, 3.9%, and 18 of 383, 4.7%; TGFBR1 64 of 2,336; ACVR1B 11 of 383 (cBioPortal). SMAD4 and TGFBR2 mutations were largely restricted to the invasive carcinoma in cyst progression (Noe 2020)."},{"cancerId":"colorectal","pct":"12-16","measure":"Mutation or deep deletion (18q loss)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: mutation in 1,078 of 7,237, 14.9%, plus deep deletion in 205, in crc_msk_2026; 173 of 1,134, 15.3%, plus 42 deletions, in crc_msk_2017; 238 of 1,516, 15.7%, plus 46 deletions, in crc_eo_2020; 68 of 534, 12.7%, plus 28 deletions of 592, in coadread_tcga_pan_can_atlas_2018; 73 of 619, 11.8%, in coadread_dfci_2016. SMAD2 and SMAD3 are deleted alongside it (74 and 49 deep deletions in crc_msk_2026). A specific region of chromosome 18 was lost in 73% of carcinomas and 47% of advanced adenomas but only 11 to 13% of early adenomas, which is how 18q entered the model (Vogelstein 1988)."},{"cancerId":"gallbladder","pct":"21-38","measure":"Mutation or deletion","source":"https://doi.org/10.1002/cncr.31850","note":"38% in Chile, 36% in Japan and 27% in the United States among 81 patients, with worse survival (10 versus 25 months; Narayan 2019); mutation in 52 of 244 samples, 21.3%, and deep deletion in 11 of 244, 4.5%, in cBioPortal gbc_mskcc_2022; 26.2% of 103 in gbc_msk_2018; 7% of 376 Indian patients (Suryavanshi 2025); independently associated with reduced survival in metastatic disease (Giraldo 2022) and with inferior outcomes in ERBB2-driven tumours (Cowzer 2026)."}]},{"id":"smad7","kind":"target","name":"SMAD7","aka":["SMAD family member 7","MADH8","MADH7"],"tldr":"SMAD7 (SMAD family member 7) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"Antagonist of signalling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signalling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.99, animal model 0.41, genetic association 0.77).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6773","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6773"},{"label":"UniProt O15105","url":"https://www.uniprot.org/uniprotkb/O15105/entry"},{"label":"NCBI Gene 4092","url":"https://www.ncbi.nlm.nih.gov/gene/4092"},{"label":"Ensembl ENSG00000101665","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101665"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMAD7","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:6773","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6773","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15105","url":"https://www.uniprot.org/uniprotkb/O15105/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000101665","url":"https://platform.opentargets.org/target/ENSG00000101665/associations","note":"association with cancer (MONDO_0004992) 0.60; per-cancer scores at or above 0.5: colorectal cancer 0.58 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:6773","ensembl":"ENSG00000101665","uniprot":"O15105","entrez":"4092","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hayashi et al, Cell, 1997, \"The MAD-related protein Smad7 associates with the TGFbeta receptor and functions as an antagonist of TGFbeta signaling\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9215638/","biology":"Antagonist of signalling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signalling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator. Location: Nucleus; Cytoplasm (UniProt). Locus 18q21.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.58 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"smarca2","kind":"target","name":"SMARCA2","aka":["SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2","SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2","BAF190","hSNF2a","hBRM","Sth1p","SNF2LA","SNF2","SWI2","SNF2L2"],"tldr":"SMARCA2 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Salivary gland cancers.","summary":"ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants. IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Salivary Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11098"},{"label":"UniProt P51531","url":"https://www.uniprot.org/uniprotkb/P51531/entry"},{"label":"NCBI Gene 6595","url":"https://www.ncbi.nlm.nih.gov/gene/6595"},{"label":"Ensembl ENSG00000080503","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000080503"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["salivary-gland"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["swi-snf-chromatin"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMARCA2","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11098","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51531","url":"https://www.uniprot.org/uniprotkb/P51531/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMARCA2","url":"https://civicdb.org/features/5354","note":"2 evidence items, 0 assertions, 2 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen SMARCA2","url":"https://www.intogen.org/search?gene=SMARCA2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SMARCA2: RNA low tissue specificity; high antibody staining in 15 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Salivary gland cancers); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P51531","url":"https://www.uniprot.org/uniprotkb/P51531/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMARCA2","url":"https://civicdb.org/features/5354","note":"2 evidence items, 0 assertions, 2 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen SMARCA2","url":"https://www.intogen.org/search?gene=SMARCA2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SMARCA2 tissue","url":"https://www.proteinatlas.org/ENSG00000080503-SMARCA2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000080503 associations","url":"https://platform.opentargets.org/target/ENSG00000080503/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11098","ensembl":"ENSG00000080503","uniprot":"P51531","entrez":"6595","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Muchardt et al, EMBO J, 1993, \"A human homologue of Saccharomyces cerevisiae SNF2/SWI2 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8223438/","biology":"ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. Location: Nucleus (UniProt). Locus 9p24.3 (HGNC).","whereFound":["Salivary gland cancers: IntOGen driver in 1 cohort (SACA)"],"targetClass":"oncogene","prevalence":[]},{"id":"smarca4","kind":"target","name":"SMARCA4","aka":["SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4","SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4","hSNF2b","BRG1","BAF190","SNF2","SWI2","SNF2-BETA","SNF2LB","FLJ39786","SNF2L4"],"tldr":"SMARCA4 is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium-dependent release of a repressor complex and the recruitment of an activator complex.\n\nCIViC holds 18 clinical evidence items and 0 assertions across 6 variants, naming Abemaciclib, Tazemetostat, Palbociclib and Vinorelbine and others. Open Targets scores its association with cancer at 0.90 (direct and indirect evidence; datatypes genetic literature 0.90, affected pathway 0.76, literature 1.00, genetic association 0.91, somatic mutation 0.98, animal model 0.56). IntOGen calls it a driver in 45 cohorts (27 activating, 16 loss-of-function), covering Burkitt Lymphoma, Bladder/Urinary Tract, Bladder Urothelial Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Colon Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11100","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11100"},{"label":"UniProt P51532","url":"https://www.uniprot.org/uniprotkb/P51532/entry"},{"label":"NCBI Gene 6597","url":"https://www.ncbi.nlm.nih.gov/gene/6597"},{"label":"Ensembl ENSG00000127616","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127616"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["sarcoma","lung-cancer","neuroendocrine","ovarian","esophageal","pancreatic","non-hodgkin-lymphoma","urothelial","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["swi-snf-chromatin"],"terms":[],"trials":["nct03213665"],"people":[],"bottlenecks":[],"keyPapers":["paper-schoenfeld-smarca4-alterations-lung-ccr-2020"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 7 therapies; IntOGen calls it an activating (Act) driver in 27 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 16 cohorts; CIViC holds 18 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Small-cell Carcinoma Of The Ovary Of Hypercalcemic Type; Small Cell Carcinoma Of The Ovary, Hypercalcaemic Type; Ovarian Small Cell Carcinoma; Low-Grade Glioma, NOS.","Lung cancer: altered in 8% of 4,813 patients, in two classes that behave differently. Class 1 alterations (truncating, fusion, homozygous deletion) lose protein expression in 81% of cases and carry the shortest survival; class 2 missense alterations lose none. Both co-occur with KRAS, STK11 and KEAP1, and both did better than wild-type tumours on checkpoint blockade, class 1 best (Schoenfeld 2020). It reaches 11.2% in immunotherapy-treated cohorts and only 3.5% in squamous disease (cBioPortal)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMARCA4","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11100","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11100","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51532","url":"https://www.uniprot.org/uniprotkb/P51532/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMARCA4","url":"https://civicdb.org/features/78","note":"18 evidence items, 0 assertions, 6 variants; diseases: Lung Non-small Cell Carcinoma, Small-cell Carcinoma Of The Ovary Of Hypercalcemic Type, Small Cell Carcinoma Of The Ovary, Hypercalcaemic Type, Cancer, Lung Adenocarcinoma and 4 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000127616","url":"https://platform.opentargets.org/target/ENSG00000127616/associations","note":"association with cancer (MONDO_0004992) 0.90; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.69, colorectal cancer 0.57, gastric cancer 0.55, oesophageal cancer 0.56, ovarian cancer 0.65, melanoma 0.59 (GraphQL API, CC0)"},{"label":"IntOGen SMARCA4","url":"https://www.intogen.org/search?gene=SMARCA4","note":"driver in 45 cohorts (Act 27, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SMARCA4: RNA low tissue specificity; high antibody staining in 37 normal tissues; highest cancer staining lung cancer (12 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Lung cancer (all types), Neuroendocrine tumours, Ovarian cancer, Oesophageal cancer, Pancreatic ductal adenocarcinoma, Lymphoma and more); Open Targets associates it with 9 specific cancer types at or above 0.5 (rhabdoid tumor predisposition syndrome 2, familial rhabdoid tumor, rhabdoid tumor, medulloblastoma, hereditary neoplastic syndrome, lung adenocarcinoma and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P51532","url":"https://www.uniprot.org/uniprotkb/P51532/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMARCA4","url":"https://civicdb.org/features/78","note":"18 evidence items, 0 assertions, 6 variants; diseases: Lung Non-small Cell Carcinoma, Small-cell Carcinoma Of The Ovary Of Hypercalcemic Type, Small Cell Carcinoma Of The Ovary, Hypercalcaemic Type, Cancer, Lung Adenocarcinoma and 4 more (GraphQL API, CC0)"},{"label":"IntOGen SMARCA4","url":"https://www.intogen.org/search?gene=SMARCA4","note":"driver in 45 cohorts (Act 27, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SMARCA4 tissue","url":"https://www.proteinatlas.org/ENSG00000127616-SMARCA4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000127616 associations","url":"https://platform.opentargets.org/target/ENSG00000127616/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11100","ensembl":"ENSG00000127616","uniprot":"P51532","entrez":"6597","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Khavari P.A. et al, Nature, 1993, \"BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8232556/","biology":"ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating the calcium-dependent release of a repressor complex and the recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by SMARCA4-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. Location: Nucleus (UniProt). Locus 19p13.2 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.84 with sarcoma (MONDO_0005089)","Lung cancer: Open Targets association 0.70 with lung cancer (MONDO_0008903)","Neuroendocrine tumours: Open Targets association 0.65 with neuroendocrine neoplasm (MONDO_0019496)","Ovarian cancer: Open Targets association 0.65 with ovarian cancer (MONDO_0008170); IntOGen driver in 1 cohort (OVT)","Oesophageal cancer: Open Targets association 0.56 with oesophageal cancer (MONDO_0007576); IntOGen driver in 6 cohorts (ESCA, ESCC)","Pancreatic ductal adenocarcinoma: IntOGen driver in 5 cohorts (PAAD, PANCREAS)","Non-small-cell lung cancer: truncating and missense mutation (class 1 and class 2) 6-10%"],"targetClass":"transcription","prevalence":[{"cancerId":"nsclc","pct":"6-10","measure":"Truncating and missense mutation (class 1 and class 2)","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal: 228 of 2,653, 8.6%, in luad_mskcc_2023_met_organotropism; 92 of 915, 10.1%, in lung_msk_2017; 46 of 566, 8.1%, in luad_tcga_pan_can_atlas_2018; 11 of 110, 10.0%, in luad_cptac_2020; 27 of 240, 11.2%, in nsclc_pd1_msk_2018; 17 of 484, 3.5%, in lusc_tcga_pan_can_atlas_2018; 8 of 302, 2.6%, in luad_oncosg_2020. In 4,813 patients, 407, 8%, carried a SMARCA4 alteration (Schoenfeld 2020)."}]},{"id":"smarcb1","kind":"target","name":"SMARCB1","aka":["SWI/SNF related BAF chromatin remodeling complex subunit B1","SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1","BAF47","Ini1","INI-1","Snr1","hSNFS","Sfh1p","PPP1R144","SNF5","SNF5L1"],"tldr":"SMARCB1 is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal.\n\nCIViC holds 24 clinical evidence items and 4 assertions across 5 variants, naming Tazemetostat and Panobinostat. Open Targets scores its association with cancer at 0.88 (direct and indirect evidence; datatypes genetic literature 0.91, affected pathway 0.87, literature 0.99, genetic association 0.85, somatic mutation 0.88, animal model 0.65). IntOGen calls it a driver in 5 cohorts (4 activating, 1 loss-of-function), covering Atypical Teratoid/Rhabdoid Tumour, Medulloblastoma, Neuroblastoma, Pancreatic Neuroendocrine Tumour, Pilocytic Astrocytoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11103","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103"},{"label":"UniProt Q12824","url":"https://www.uniprot.org/uniprotkb/Q12824/entry"},{"label":"NCBI Gene 6598","url":"https://www.ncbi.nlm.nih.gov/gene/6598"},{"label":"Ensembl ENSG00000099956","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000099956"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["sarcoma","neuroendocrine","rcc","ovarian","atrt","epithelioid-sarcoma","synovial-sarcoma","medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["swi-snf-chromatin"],"terms":[],"trials":["nct03213665"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 24 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Poorly Differentiated Chordoma; Rhabdoid Cancer; Cribriform Neuroepithelial Tumour; Renal Medullary Carcinoma; SMARCB1-deficient Renal Medullary Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMARCB1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11103","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11103","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12824","url":"https://www.uniprot.org/uniprotkb/Q12824/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMARCB1","url":"https://civicdb.org/features/5356","note":"24 evidence items, 4 assertions, 5 variants; diseases: Poorly Differentiated Chordoma, Atypical Teratoid Rhabdoid Tumour, Rhabdoid Cancer, Epithelioid Sarcoma, Cribriform Neuroepithelial Tumour and 4 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000099956","url":"https://platform.opentargets.org/target/ENSG00000099956/associations","note":"association with cancer (MONDO_0004992) 0.88; per-cancer scores at or above 0.5: renal cell carcinoma 0.55, ovarian cancer 0.51, sarcoma 0.87 (GraphQL API, CC0)"},{"label":"IntOGen SMARCB1","url":"https://www.intogen.org/search?gene=SMARCB1","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SMARCB1: RNA low tissue specificity; high antibody staining in 40 normal tissues; highest cancer staining breast cancer (12 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST), Neuroendocrine tumours, Renal cell carcinoma, Ovarian cancer, Brain and spinal cord tumours (all types)); Open Targets associates it with 6 specific cancer types at or above 0.5 (rhabdoid tumor predisposition syndrome 1, schwannomatosis, SMARCB1-related schwannomatosis, familial rhabdoid tumor, rhabdoid tumor, hereditary neoplastic syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q12824","url":"https://www.uniprot.org/uniprotkb/Q12824/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SMARCB1","url":"https://civicdb.org/features/5356","note":"24 evidence items, 4 assertions, 5 variants; diseases: Poorly Differentiated Chordoma, Atypical Teratoid Rhabdoid Tumour, Rhabdoid Cancer, Epithelioid Sarcoma, Cribriform Neuroepithelial Tumour and 4 more (GraphQL API, CC0)"},{"label":"IntOGen SMARCB1","url":"https://www.intogen.org/search?gene=SMARCB1","note":"driver in 5 cohorts (Act 4, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SMARCB1 tissue","url":"https://www.proteinatlas.org/ENSG00000099956-SMARCB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000099956 associations","url":"https://platform.opentargets.org/target/ENSG00000099956/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11103","ensembl":"ENSG00000099956","uniprot":"Q12824","entrez":"6598","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kalpana G.V. et al, Science, 1994, \"Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7801128/","biology":"Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumour formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Involved in activation of CSF1 promoter. Location: Nucleus (UniProt). Locus 22q11.23 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.87 with sarcoma (MONDO_0005089)","Neuroendocrine tumours: IntOGen driver in 1 cohort (PANET)","Renal cell carcinoma: Open Targets association 0.55 with renal cell carcinoma (MONDO_0005086)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)","Atypical teratoid/rhabdoid tumour: CIViC evidence names this disease; IntOGen driver in 1 cohort (ATRT)","Epithelioid sarcoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"smarcd1","kind":"target","name":"SMARCD1","aka":["SWI/SNF related BAF chromatin remodeling complex subunit D1","SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1","BAF60A","Rsc6p","CRACD1"],"tldr":"SMARCD1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex).\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Invasive Breast Carcinoma, Malignant Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11106"},{"label":"UniProt Q96GM5","url":"https://www.uniprot.org/uniprotkb/Q96GM5/entry"},{"label":"NCBI Gene 6602","url":"https://www.ncbi.nlm.nih.gov/gene/6602"},{"label":"Ensembl ENSG00000066117","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000066117"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMARCD1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11106","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11106","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96GM5","url":"https://www.uniprot.org/uniprotkb/Q96GM5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SMARCD1","url":"https://www.intogen.org/search?gene=SMARCD1","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11106","ensembl":"ENSG00000066117","uniprot":"Q96GM5","entrez":"6602","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang et al, Genes Dev, 1996, \"Diversity and specialization of mammalian SWI/SNF complexes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8804307/","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). Location: Nucleus (UniProt). Locus 12q13.12 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"smarce1","kind":"target","name":"SMARCE1","aka":["SWI/SNF related BAF chromatin remodeling complex subunit E1","SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1","BAF57"],"tldr":"SMARCE1 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Meningioma.","summary":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex).\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.02, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11109","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11109"},{"label":"UniProt Q969G3","url":"https://www.uniprot.org/uniprotkb/Q969G3/entry"},{"label":"NCBI Gene 6605","url":"https://www.ncbi.nlm.nih.gov/gene/6605"},{"label":"Ensembl ENSG00000073584","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000073584"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["meningioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMARCE1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11109","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11109","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q969G3","url":"https://www.uniprot.org/uniprotkb/Q969G3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000073584","url":"https://platform.opentargets.org/target/ENSG00000073584/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: meningioma 0.79 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11109","ensembl":"ENSG00000073584","uniprot":"Q969G3","entrez":"6605","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang et al, Proc. Natl. Acad. Sci. U.S.A, 1998, \"Architectural DNA binding by a high-mobility-group/kinesin-like subunit in mammalian SWI/SNF-related complexes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9435219/","biology":"Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). Location: Nucleus (UniProt). Locus 17q21.2 (HGNC).","whereFound":["Meningioma: Open Targets association 0.79 with meningioma (MONDO_0016642)"],"targetClass":"other","prevalence":[]},{"id":"smc1a","kind":"target","name":"SMC1A","aka":["structural maintenance of chromosomes 1A","Structural maintenance of chromosomes protein 1A","DXS423E","KIAA0178","SB1.8","Smcb","SMC1L1"],"tldr":"SMC1A (Structural maintenance of chromosomes protein 1A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication.\n\nIntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11111","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11111"},{"label":"UniProt Q14683","url":"https://www.uniprot.org/uniprotkb/Q14683/entry"},{"label":"NCBI Gene 8243","url":"https://www.ncbi.nlm.nih.gov/gene/8243"},{"label":"Ensembl ENSG00000072501","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072501"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; UniProt keyword \"DNA repair\". Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SMC1A","role":["oncogene-driver","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11111","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11111","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14683","url":"https://www.uniprot.org/uniprotkb/Q14683/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SMC1A","url":"https://www.intogen.org/search?gene=SMC1A","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11111","ensembl":"ENSG00000072501","uniprot":"Q14683","entrez":"8243","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rocques P.J. et al, Hum. Mol. Genet, 1995, \"The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7757074/","biology":"Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Location: Nucleus; Chromosome; Chromosome, centromere, kinetochore (UniProt). Locus Xp11.22 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 2 cohorts (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"smoothened","kind":"target","name":"Smoothened (hedgehog pathway)","aka":[],"tldr":"The switch in the hedgehog developmental pathway that is stuck on in basal cell carcinoma and some medulloblastomas; three approved pills block it.","summary":"Hedgehog ligand binding to PTCH1 releases SMO, a GPCR-like protein, to activate GLI transcription factors. PTCH1 loss (~70%) or SMO mutation (~10-20%) drives essentially all basal cell carcinoma, SHH-subgroup medulloblastoma (~30%) and Gorlin syndrome. Vismodegib (2012) and sonidegib (2015) treat advanced BCC; glasdegib (2018) with low-dose cytarabine treats unfit AML. Class toxicities (muscle spasms, dysgeusia, alopecia, teratogenicity) limit duration; SMO mutations (D473H, W535L) cause resistance; downstream GLI or SUFU-loss tumours do not respond.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/Smoothened","links":[{"label":"BCC genomics (Nat Genet 2016)","url":"https://doi.org/10.1038/ng.3525"}],"tags":["gap-fill"],"related":[],"cancers":["basal-cell-carcinoma","medulloblastoma","aml"],"sections":[],"technologies":["kinase-inhibitors"],"targets":[],"drugs":["vismodegib","sonidegib","glasdegib"],"companies":[],"institutions":[],"pathways":["basal-cell-carcinoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-bonilla-nat-genet"],"journals":[],"dependsOn":[],"notes":[],"symbol":"SMO","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 4 medicines aimed at it (Vismodegib, Sonidegib, Glasdegib and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA SMO: RNA low tissue specificity; no normal tissue stained high; highest cancer staining urothelial cancer (1 of 11 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Brain and spinal cord tumours (all types), Leukaemia); Open Targets associates it with 3 specific cancer types at or above 0.5 (basal cell carcinoma, acute myeloid leukemia, medulloblastoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SMO tissue","url":"https://www.proteinatlas.org/ENSG00000128602-SMO/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000128602 associations","url":"https://platform.opentargets.org/target/ENSG00000128602/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11119","ensembl":"ENSG00000128602","uniprot":"Q99835","entrez":"6608","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stone D.M. et al, Nature, 1996, \"The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8906787/","biology":"Seven-transmembrane Frizzled-class receptor; cholesterol binding to its cysteine-rich domain and transmembrane site activates it once PTCH1 inhibition is relieved, translocating to the primary cilium and derepressing GLI2/3.","whereFound":["Basal cell carcinoma (PTCH1 ~70%, SMO ~10-20%)","SHH medulloblastoma (~30% of medulloblastoma)","Gorlin syndrome (germline PTCH1/SUFU)","AML (pathway activity in leukaemic stem cells)"],"targetClass":"other","prevalence":[{"cancerId":"basal-cell-carcinoma","pct":"85","measure":"hedgehog pathway activation (PTCH1 or SMO)","source":"https://doi.org/10.1038/ng.3525"},{"cancerId":"medulloblastoma","pct":"30","measure":"SHH subgroup"}]},{"id":"snap25","kind":"target","name":"SNAP25","aka":["synaptosome associated protein 25","Synaptosomal-associated protein 25","SNAP-25","RIC-4","RIC4","SEC9","bA416N4.2","dJ1068F16.2"],"tldr":"SNAP25 (Synaptosomal-associated protein 25) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it.","summary":"t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.84, animal model 0.46, genetic association 0.00, clinical 0.78).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11132","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11132"},{"label":"UniProt P60880","url":"https://www.uniprot.org/uniprotkb/P60880/entry"},{"label":"NCBI Gene 6616","url":"https://www.ncbi.nlm.nih.gov/gene/6616"},{"label":"Ensembl ENSG00000132639","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132639"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.78. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SNAP25","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11132","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11132","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P60880","url":"https://www.uniprot.org/uniprotkb/P60880/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000132639","url":"https://platform.opentargets.org/target/ENSG00000132639/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SNAP25: RNA tissue enriched (brain 2,270 nTPM); high antibody staining in 2 normal tissues. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SNAP25 tissue","url":"https://www.proteinatlas.org/ENSG00000132639-SNAP25/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000132639 associations","url":"https://platform.opentargets.org/target/ENSG00000132639/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11132","ensembl":"ENSG00000132639","uniprot":"P60880","entrez":"6616","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bark I.C. et al, Gene, 1994, \"Human cDNA clones encoding two different isoforms of the nerve terminal protein SNAP-25\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8112622/","biology":"t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells. Location: Cytoplasm, perinuclear region; Cell membrane; Synapse, synaptosome; Photoreceptor inner segment (UniProt). Locus 20p12.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"sncaip","kind":"target","name":"SNCAIP","aka":["synuclein alpha interacting protein","Synphilin-1","SYPH1"],"tldr":"SNCAIP (Synphilin-1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11139","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11139"},{"label":"UniProt Q9Y6H5","url":"https://www.uniprot.org/uniprotkb/Q9Y6H5/entry"},{"label":"NCBI Gene 9627","url":"https://www.ncbi.nlm.nih.gov/gene/9627"},{"label":"Ensembl ENSG00000064692","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000064692"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Medulloblastoma Non-WNT/non-SHH Group 4."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SNCAIP","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11139","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11139","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6H5","url":"https://www.uniprot.org/uniprotkb/Q9Y6H5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SNCAIP","url":"https://civicdb.org/features/7608","note":"1 evidence items, 0 assertions, 1 variants; diseases: Medulloblastoma Non-WNT/non-SHH Group 4 (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SNCAIP: RNA tissue enhanced (cervix 16 nTPM, endometrium 1 18 nTPM, ovary 25 nTPM); blood lineage lineage enriched (granulocytes 8 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (5 of 10 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SNCAIP tissue","url":"https://www.proteinatlas.org/ENSG00000064692-SNCAIP/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000064692 associations","url":"https://platform.opentargets.org/target/ENSG00000064692/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11139","ensembl":"ENSG00000064692","uniprot":"Q9Y6H5","entrez":"9627","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Engelender et al, Nat. Genet, 1999, \"Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10319874/","biology":"Isoform 2 inhibits the ubiquitin ligase activity of SIAH1 and inhibits proteasomal degradation of target proteins. Isoform 2 inhibits autoubiquitination and proteasomal degradation of SIAH1, and thereby increases cellular levels of SIAH. Isoform 2 modulates SNCA monoubiquitination by SIAH1. Location: Cytoplasm (UniProt). Locus 5q23.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"snd1","kind":"target","name":"SND1","aka":["staphylococcal nuclease and tudor domain containing 1","Staphylococcal nuclease domain-containing protein 1","TDRD11","p100"],"tldr":"SND1 (Staphylococcal nuclease domain-containing protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Cervical cancer, Breast cancer, Lung cancer and 3 more.","summary":"Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs. As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition. Functions as a bridging factor between STAT6 and the basal transcription factor.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.89, literature 0.98, genetic association 0.03, somatic mutation 0.83, animal model 0.38). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Cervical Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30646","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30646"},{"label":"UniProt Q7KZF4","url":"https://www.uniprot.org/uniprotkb/Q7KZF4/entry"},{"label":"NCBI Gene 27044","url":"https://www.ncbi.nlm.nih.gov/gene/27044"},{"label":"Ensembl ENSG00000197157","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197157"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["cervical","breast-cancer","lung-cancer","colorectal","non-hodgkin-lymphoma","leukaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SND1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30646","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30646","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7KZF4","url":"https://www.uniprot.org/uniprotkb/Q7KZF4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000197157","url":"https://platform.opentargets.org/target/ENSG00000197157/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.52, non-Hodgkin lymphoma 0.52, breast cancer 0.56, lung cancer 0.54, leukaemia 0.51 (GraphQL API, CC0)"},{"label":"IntOGen SND1","url":"https://www.intogen.org/search?gene=SND1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30646","ensembl":"ENSG00000197157","uniprot":"Q7KZF4","entrez":"27044","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tong et al, Mol. Cell. Biol, 1995, \"The Epstein-Barr virus nuclear protein 2 acidic domain forms a complex with a novel cellular coactivator that can interact with TFIIE\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7651391/","biology":"Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs. As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition. Functions as a bridging factor between STAT6 and the basal transcription factor. Plays a role in PIM1 regulation of MYB activity. Functions as a transcriptional coactivator for STAT5. Location: Cytoplasm; Nucleus; Melanosome (UniProt). Locus 7q32.1 (HGNC).","whereFound":["Cervical cancer: IntOGen driver in 1 cohort (CESC)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)"],"targetClass":"oncogene","prevalence":[]},{"id":"sntb1","kind":"target","name":"SNTB1","aka":["syntrophin beta 1","Beta-1-syntrophin","59-DAP","A1B","BSYN2","TIP-43","SNT2","SNT2B1"],"tldr":"SNTB1 (Beta-1-syntrophin) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Adapter protein that binds to and probably organises the subcellular localisation of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.83, genetic association 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11168","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11168"},{"label":"UniProt Q13884","url":"https://www.uniprot.org/uniprotkb/Q13884/entry"},{"label":"NCBI Gene 6641","url":"https://www.ncbi.nlm.nih.gov/gene/6641"},{"label":"Ensembl ENSG00000172164","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172164"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SNTB1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11168","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11168","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13884","url":"https://www.uniprot.org/uniprotkb/Q13884/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172164","url":"https://platform.opentargets.org/target/ENSG00000172164/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11168","ensembl":"ENSG00000172164","uniprot":"Q13884","entrez":"6641","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ahn A.H. et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8183929/","biology":"Adapter protein that binds to and probably organises the subcellular localisation of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex. Location: Cell membrane, sarcolemma; Cell junction; Cytoplasm, cytoskeleton (UniProt). Locus 8q24.12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"snw1","kind":"target","name":"SNW1","aka":["SNW domain containing 1","SNW domain-containing protein 1","NCoA-62","Prp45","PRPF45","Bx42","SKIP1","FUN20","SKIIP"],"tldr":"SNW1 (SNW domain-containing protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Involved in pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs. Required for the specific splicing of CDKN1A pre-mRNA; the function probably involves the recruitment of U2AF2 to the mRNA.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.39, affected pathway 0.95, genetic association 0.03).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16696","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16696"},{"label":"UniProt Q13573","url":"https://www.uniprot.org/uniprotkb/Q13573/entry"},{"label":"NCBI Gene 22938","url":"https://www.ncbi.nlm.nih.gov/gene/22938"},{"label":"Ensembl ENSG00000100603","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100603"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SNW1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16696","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16696","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13573","url":"https://www.uniprot.org/uniprotkb/Q13573/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100603","url":"https://platform.opentargets.org/target/ENSG00000100603/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16696","ensembl":"ENSG00000100603","uniprot":"Q13573","entrez":"22938","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Folk et al, Gene, 1996, \"The homolog of chromatin binding protein Bx42 identified in Dictyostelium\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8973337/","biology":"Involved in pre-mRNA splicing as component of the spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs. Required for the specific splicing of CDKN1A pre-mRNA; the function probably involves the recruitment of U2AF2 to the mRNA. May recruit PPIL1 to the spliceosome. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 14q24.3 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"snx29","kind":"target","name":"SNX29","aka":["sorting nexin 29","Sorting nexin-29","FLJ12363","RUNDC2A"],"tldr":"SNX29 (Sorting nexin-29) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer and Small intestine cancer.","summary":"UniProt has no function text for Q8TEQ0; HGNC names it \"sorting nexin 29\".\n\nIntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma, Small Intestinal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30542","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30542"},{"label":"UniProt Q8TEQ0","url":"https://www.uniprot.org/uniprotkb/Q8TEQ0/entry"},{"label":"NCBI Gene 92017","url":"https://www.ncbi.nlm.nih.gov/gene/92017"},{"label":"Ensembl ENSG00000048471","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000048471"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["urothelial","small-bowel"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SNX29","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30542","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30542","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8TEQ0","url":"https://www.uniprot.org/uniprotkb/Q8TEQ0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SNX29","url":"https://www.intogen.org/search?gene=SNX29","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30542","ensembl":"ENSG00000048471","uniprot":"Q8TEQ0","entrez":"92017","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jikuya et al, DNA Res, 2003, \"Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12693554/","biology":"UniProt has no function text for Q8TEQ0; HGNC names it \"sorting nexin 29\". Locus 16p13.13-p13.12 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Small intestine cancer: IntOGen driver in 1 cohort (SIC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"socs1","kind":"target","name":"SOCS1","aka":["suppressor of cytokine signaling 1","Suppressor of cytokine signaling 1","SOCS-1","SSI-1","TIP3","Cish1"],"tldr":"SOCS1 (Suppressor of cytokine signalling 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Diffuse large B-cell lymphoma and Rectal cancer.","summary":"Essential negative regulator of type I and type II interferon (IFN) signalling, as well as that of other cytokines, including IL2, IL4, IL6 and leukaemia inhibitory factor (LIF). Down-regulates cytokine signalling by inhibiting the JAK/STAT signalling pathway. Acts by binding to JAK proteins and to IFNGR1 and inhibiting their kinase activity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.49 (direct and indirect evidence; datatypes literature 0.99, animal model 0.51, genetic association 0.04, somatic mutation 0.74). IntOGen calls it a driver in 5 cohorts (3 activating, 2 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma, Rectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19383","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19383"},{"label":"UniProt O15524","url":"https://www.uniprot.org/uniprotkb/O15524/entry"},{"label":"NCBI Gene 8651","url":"https://www.ncbi.nlm.nih.gov/gene/8651"},{"label":"Ensembl ENSG00000185338","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185338"},{"label":"Kucuk et al., Nat Commun 2015: activating STAT3 and STAT5B mutations in lymphomas derived from NK or gamma-delta T cells","url":"https://doi.org/10.1038/ncomms7025"},{"label":"Green et al., Blood 2010: selective 9p24.1 amplification and PD-1 ligand induction through JAK2 in Hodgkin lymphoma and mediastinal large B-cell lymphoma","url":"https://doi.org/10.1182/blood-2010-05-282780"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","dlbcl","rectal-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["jak-stat"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, JAK-STAT, in NK/T-cell lymphoma and in Hodgkin lymphoma: STAT3 and STAT5B mutations lock the transcription factor in its phosphorylated form. The STAT5B N642H substitution increases the binding affinity of the phosphotyrosine for the mutant histidine, so the phosphorylated protein persists and binds its target sites far more, and the growth advantage it gives can be partly reversed by a JAK1/2 inhibitor in the laboratory (Kucuk 2015). In Hodgkin lymphoma and primary mediastinal B-cell lymphoma the pathway is switched on from the other end, by amplification of JAK2 inside the 9p24.1 amplicon and by loss of the brakes SOCS1 and PTPN1. Frequency: Activating STAT3 and STAT5B mutations across 51 NK/T-cell lymphomas and 43 gamma-delta T-cell lymphomas, with STAT5B N642H particularly frequent in the gamma-delta group (Kucuk 2015). JAK2 sits in the 9p24.1 amplicon in Hodgkin lymphoma and mediastinal large B-cell lymphoma, and its amplification raises both protein and activity and specifically induces PD-1 ligand transcription (Green 2010). What it changes about treatment: Not through an approved drug. JAK inhibitors have been tested in both settings without becoming standard; the practical consequence of the Hodgkin and mediastinal finding is that it explains why checkpoint blockade works there."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SOCS1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:19383","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19383","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15524","url":"https://www.uniprot.org/uniprotkb/O15524/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SOCS1","url":"https://civicdb.org/features/6856","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000185338","url":"https://platform.opentargets.org/target/ENSG00000185338/associations","note":"association with cancer (MONDO_0004992) 0.49; per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.63, non-Hodgkin lymphoma 0.68 (GraphQL API, CC0)"},{"label":"IntOGen SOCS1","url":"https://www.intogen.org/search?gene=SOCS1","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SOCS1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (8 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Colorectal cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O15524","url":"https://www.uniprot.org/uniprotkb/O15524/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SOCS1","url":"https://civicdb.org/features/6856","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SOCS1","url":"https://www.intogen.org/search?gene=SOCS1","note":"driver in 5 cohorts (Act 3, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SOCS1 tissue","url":"https://www.proteinatlas.org/ENSG00000185338-SOCS1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185338 associations","url":"https://platform.opentargets.org/target/ENSG00000185338/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:19383","ensembl":"ENSG00000185338","uniprot":"O15524","entrez":"8651","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Minamoto et al, Biochem. Biophys. Res. Commun, 1997, \"Cloning and functional analysis of new members of STAT induced STAT inhibitor (SSI) family: SSI-2 and SSI-3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9266833/","biology":"Essential negative regulator of type I and type II interferon (IFN) signalling, as well as that of other cytokines, including IL2, IL4, IL6 and leukaemia inhibitory factor (LIF). Down-regulates cytokine signalling by inhibiting the JAK/STAT signalling pathway. Acts by binding to JAK proteins and to IFNGR1 and inhibiting their kinase activity. In vitro, suppresses Tec protein-tyrosine activity. Regulates IFN-gamma (IFNG)-mediated sensory neuron survival. Probable substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Location: Nucleus; Cytoplasmic vesicle (UniProt). Locus 16p13.13 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.68 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Diffuse large B-cell lymphoma: Open Targets association 0.63 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Rectal cancer: IntOGen driver in 1 cohort (READ)"],"targetClass":"oncogene","prevalence":[]},{"id":"sstr2","kind":"target","name":"Somatostatin receptor 2","aka":[],"tldr":"Somatostatin receptor 2 is a hormone receptor densely present on neuroendocrine tumours, and was the first theranostic target to reach routine care.","summary":"Somatostatin receptor 2 is a G-protein-coupled receptor overexpressed on well-differentiated neuroendocrine tumours, which internalise bound somatostatin analogues and so can be both imaged and treated with the same peptide. 68Ga-DOTATATE PET (Netspot) and 177Lu-DOTATATE (Lutathera, NETTER-1 and NETTER-2) established the theranostic paradigm, in which a diagnostic scan selects patients for a matched radioligand. SSTR PET is positive in 80-90% of well-differentiated neuroendocrine tumours but lower in grade 3, and the receptor is also expressed in meningioma, 30-50% of small-cell lung cancer, and some breast cancers. Alpha-emitting 225Ac-DOTATATE (RYZ101) and 212Pb-DOTAMTATE are in phase 3, testing whether alpha particles outperform beta. The simple version is a hormone receptor that lets doctors see and treat neuroendocrine tumours with the same molecule.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Somatostatin_receptor_2","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Somatostatin_receptor_2"}],"tags":["theranostic"],"related":["sstr-pet-expression"],"cancers":["neuroendocrine","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":["alphamedix","cam2029","ga68-dotatate","itm-11","lutathera","octreotide-lanreotide","paltusotine","pasireotide","ryz101"],"companies":["point-biopharma"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"SSTR2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression or amplification: 1 of 1 label readouts filed under it score protein level or gene copies (Somatostatin receptor expression by PET (SSTR-positive)), so the medicines rely on the tumour carrying more of it than normal tissue. HPA SSTR2: RNA tissue enhanced (brain 18 nTPM); blood lineage lineage enriched (granulocytes 1 nTPM); no normal tissue stained high; highest cancer staining skin cancer (1 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours, Lung cancer (all types)); approvals of single-target medicines aimed at it also list Pheochromocytoma and paraganglioma (PPGL), Nasal cavity and paranasal sinus cancers (including esthesioneuroblastoma), Thymoma and thymic carcinoma, Brain and spinal cord tumours (all types), not counted; Open Targets associates it with 1 specific cancer type at or above 0.5 (carcinoid tumor). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Somatostatin receptor expression by PET (SSTR-positive) label threshold","url":"https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=72d1a024-00b7-418a-b36e-b2cb48f2ab55","note":"Somatostatin receptor-positive by SSTR imaging"},{"label":"Human Protein Atlas SSTR2 tissue","url":"https://www.proteinatlas.org/ENSG00000180616-SSTR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas SSTR2 pathology","url":"https://www.proteinatlas.org/ENSG00000180616-SSTR2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000180616 associations","url":"https://platform.opentargets.org/target/ENSG00000180616/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11331","ensembl":"ENSG00000180616","uniprot":"P30874","entrez":"6752","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamada et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Cloning and functional characterization of a family of human and mouse somatostatin receptors expressed in brain, gastrointestinal tract, and kidney\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1346068/","biology":"G-protein-coupled receptor; also expressed in meningioma, small-cell lung cancer, and some breast cancers.","whereFound":["Neuroendocrine tumours","Meningioma","Small-cell lung cancer (subset)"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"neuroendocrine","pct":"80-90","measure":"SSTR PET positivity (well-differentiated)","source":"https://en.wikipedia.org/wiki/Somatostatin_receptor_2","note":"Lower in grade 3"},{"cancerId":"sclc","pct":"30-50","measure":"IHC/imaging","source":"https://en.wikipedia.org/wiki/Somatostatin_receptor_2"}]},{"id":"sorcs3","kind":"target","name":"SORCS3","aka":["sortilin related VPS10 domain containing receptor 3","VPS10 domain-containing receptor SorCS3","KIAA1059","SORCS"],"tldr":"SORCS3 (VPS10 domain-containing receptor SorCS3) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Plays an important role in modulating synaptic transmission and plasticity in the hippocampus, probably by affecting the trafficking and localisation ofAMPA-type glutamate receptors in the postsynaptic density.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.80, genetic association 0.63).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16699","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16699"},{"label":"UniProt Q9UPU3","url":"https://www.uniprot.org/uniprotkb/Q9UPU3/entry"},{"label":"NCBI Gene 22986","url":"https://www.ncbi.nlm.nih.gov/gene/22986"},{"label":"Ensembl ENSG00000156395","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156395"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SORCS3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16699","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16699","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UPU3","url":"https://www.uniprot.org/uniprotkb/Q9UPU3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000156395","url":"https://platform.opentargets.org/target/ENSG00000156395/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16699","ensembl":"ENSG00000156395","uniprot":"Q9UPU3","entrez":"22986","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kikuno et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10470851/","biology":"Plays an important role in modulating synaptic transmission and plasticity in the hippocampus, probably by affecting the trafficking and localisation ofAMPA-type glutamate receptors in the postsynaptic density. Location: Cell membrane; Synaptic cell membrane; Postsynaptic density (UniProt). Locus 10q25.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"sos1","kind":"target","name":"SOS1","aka":["SOS Ras/Rac guanine nucleotide exchange factor 1","Son of sevenless homolog 1","GF1","GINGF"],"tldr":"SOS1 (Son of sevenless homolog 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer, Skin cancer, Breast cancer and 1 more.","summary":"Promotes the exchange of Ras-bound GDP by GTP. Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3/ERK1 in response to EGF. Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes affected pathway 0.83, literature 0.94, genetic association 0.00, somatic mutation 0.91, animal model 0.38). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11187","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11187"},{"label":"UniProt Q07889","url":"https://www.uniprot.org/uniprotkb/Q07889/entry"},{"label":"NCBI Gene 6654","url":"https://www.ncbi.nlm.nih.gov/gene/6654"},{"label":"Ensembl ENSG00000115904","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115904"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["endometrial","skin-cancer","breast-cancer","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ras-mapk"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SOS1","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11187","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11187","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q07889","url":"https://www.uniprot.org/uniprotkb/Q07889/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SOS1","url":"https://civicdb.org/features/5409","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000115904","url":"https://platform.opentargets.org/target/ENSG00000115904/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: gastric cancer 0.51, endometrial cancer 0.53, skin cancer 0.56, breast cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen SOS1","url":"https://www.intogen.org/search?gene=SOS1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SOS1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining melanoma (3 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Endometrial cancer, Skin cancer (all types), Breast cancer (all types), Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q07889","url":"https://www.uniprot.org/uniprotkb/Q07889/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SOS1","url":"https://civicdb.org/features/5409","note":"1 evidence items, 0 assertions, 1 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen SOS1","url":"https://www.intogen.org/search?gene=SOS1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SOS1 tissue","url":"https://www.proteinatlas.org/ENSG00000115904-SOS1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115904 associations","url":"https://platform.opentargets.org/target/ENSG00000115904/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11187","ensembl":"ENSG00000115904","uniprot":"Q07889","entrez":"6654","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chardin et al, Science, 1993, \"Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8493579/","biology":"Promotes the exchange of Ras-bound GDP by GTP. Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3/ERK1 in response to EGF. Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity. Locus 2p22.1 (HGNC).","whereFound":["Endometrial cancer: Open Targets association 0.53 with endometrial cancer (MONDO_0011962); IntOGen driver in 1 cohort (UCEC)","Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.51 with gastric cancer (MONDO_0001056)"],"targetClass":"oncogene","prevalence":[]},{"id":"sox10","kind":"target","name":"SOX10","aka":["SRY-box transcription factor 10","Transcription factor SOX-10","WS4","WS2E","SOX-10"],"tldr":"SOX10 (Transcription factor SOX-10) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Transcription factor that plays a central role in developing and mature glia. Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Once induced, MYRF cooperates with SOX10 to implement the myelination program.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Vemurafenib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11190","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11190"},{"label":"UniProt P56693","url":"https://www.uniprot.org/uniprotkb/P56693/entry"},{"label":"NCBI Gene 6663","url":"https://www.ncbi.nlm.nih.gov/gene/6663"},{"label":"Ensembl ENSG00000100146","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100146"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SOX10","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11190","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11190","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P56693","url":"https://www.uniprot.org/uniprotkb/P56693/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SOX10","url":"https://civicdb.org/features/5418","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SOX10: RNA group enriched (brain 152 nTPM, salivary gland 105 nTPM); high antibody staining in 3 normal tissues; highest cancer staining glioma (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SOX10 tissue","url":"https://www.proteinatlas.org/ENSG00000100146-SOX10/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000100146 associations","url":"https://platform.opentargets.org/target/ENSG00000100146/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11190","ensembl":"ENSG00000100146","uniprot":"P56693","entrez":"6663","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pingault et al, Nat. Genet, 1998, \"SOX10 mutations in patients with Waardenburg-Hirschsprung disease\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9462749/","biology":"Transcription factor that plays a central role in developing and mature glia. Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in oligodendrocyte maturation and CNS myelination. Once induced, MYRF cooperates with SOX10 to implement the myelination program. Transcriptional activator of MITF, acting synergistically with PAX3. Transcriptional activator of MBP, via binding to the gene promoter. Location: Cytoplasm; Nucleus; Mitochondrion outer membrane (UniProt). Locus 22q13.1 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"sox17","kind":"target","name":"SOX17","aka":["SRY-box transcription factor 17","Transcription factor SOX-17"],"tldr":"SOX17 (Transcription factor SOX-17) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Endometrial cancer.","summary":"Acts as a transcription regulator that binds target promoter DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Endometrial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18122","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18122"},{"label":"UniProt Q9H6I2","url":"https://www.uniprot.org/uniprotkb/Q9H6I2/entry"},{"label":"NCBI Gene 64321","url":"https://www.ncbi.nlm.nih.gov/gene/64321"},{"label":"Ensembl ENSG00000164736","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164736"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SOX17","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18122","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18122","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H6I2","url":"https://www.uniprot.org/uniprotkb/Q9H6I2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SOX17","url":"https://www.intogen.org/search?gene=SOX17","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18122","ensembl":"ENSG00000164736","uniprot":"Q9H6I2","entrez":"64321","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Katoh, Int. J. Mol. Med, 2002, \"Molecular cloning and characterization of human SOX17\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11786926/","biology":"Acts as a transcription regulator that binds target promoter DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signalling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Location: Nucleus (UniProt). Locus 8q11.23 (HGNC).","whereFound":["Endometrial cancer: IntOGen driver in 1 cohort (UCEC)"],"targetClass":"oncogene","prevalence":[]},{"id":"sox2","kind":"target","name":"SOX2","aka":["SRY-box transcription factor 2","Transcription factor SOX-2"],"tldr":"SOX2 (Transcription factor SOX-2) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer, Skin cancer and Lung cancer.","summary":"Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Binds to the proximal enhancer region of NANOG. Critical for early embryogenesis and for embryonic stem cell pluripotency.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 1.00, affected pathway 0.62, animal model 0.69, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11195","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11195"},{"label":"UniProt P48431","url":"https://www.uniprot.org/uniprotkb/P48431/entry"},{"label":"NCBI Gene 6657","url":"https://www.ncbi.nlm.nih.gov/gene/6657"},{"label":"Ensembl ENSG00000181449","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000181449"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal","skin-cancer","lung-cancer","nsclc","prostate","prostate-mcrpc","prostate-nepc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["lineage-plasticity-neuroendocrine","transcription-addiction"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-lung-squamous-nature-2012","paper-mu-sox2-lineage-plasticity-science-2017","paper-ku-rb1-trp53-lineage-plasticity-science-2017"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lung cancer: high-level amplification in about 40% of squamous tumours against 2% of adenocarcinomas, on the 3q26 amplicon with TP63 and PIK3CA (cBioPortal). It is the squamous lineage-survival gene, the counterpart of NKX2-1 in adenocarcinoma, and the central problem of the histology: its commonest alteration is a transcription factor amplicon with no direct drug.","Prostate cancer: SOX2 mediates the shift from androgen receptor-dependent luminal cells to androgen receptor-independent basal-like cells that follows loss of TP53 and RB1, and knocking it down reverses enzalutamide resistance in human models (Mu 2017)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SOX2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11195","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11195","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48431","url":"https://www.uniprot.org/uniprotkb/P48431/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000181449","url":"https://platform.opentargets.org/target/ENSG00000181449/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: colorectal cancer 0.55, skin cancer 0.53, lung cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11195","ensembl":"ENSG00000181449","uniprot":"P48431","entrez":"6657","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sadler L.A. et al, 1992.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P48431/entry","biology":"Transcription factor that forms a trimeric complex with OCT4 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Binds to the proximal enhancer region of NANOG. Critical for early embryogenesis and for embryonic stem cell pluripotency. Downstream SRRT target that mediates the promotion of neural stem cell self-renewal. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. May function as a switch in neuronal development. Location: Nucleus speckle; Cytoplasm; Nucleus (UniProt). Locus 3q26.33 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Non-small-cell lung cancer: high-level amplification of the squamous lineage programme 29-43%"],"targetClass":"transcription","prevalence":[{"cancerId":"nsclc","pct":"29-43","measure":"High-level amplification of the squamous lineage programme","source":"https://www.cbioportal.org/study/summary?id=lusc_tcga_pan_can_atlas_2018","note":"cBioPortal high-level amplification: SOX2 194 of 487, 39.8%, and TP63 154 of 487, 31.6%, in lusc_tcga_pan_can_atlas_2018; SOX2 76 of 178, 42.7%, and TP63 51 of 178, 28.7%, in lusc_tcga_pub; SOX2 220 of 1,144, 19.2%, and TP63 176, 15.4%, in the combined nsclc_tcga_broad_2016. In adenocarcinoma the same genes are amplified in 10 of 511 (2.0%) and 10 of 511 (2.0%). The founding paper counted squamous differentiation genes altered in 44% of tumours (Cancer Genome Atlas Research Network 2012)."}]},{"id":"sox21","kind":"target","name":"SOX21","aka":["SRY-box transcription factor 21","Transcription factor SOX-21","SOX25"],"tldr":"SOX21 (Transcription factor SOX-21) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer.","summary":"May play a role as an activator of transcription of OPRM1. Overexpression of SOX21 can up-regulate the OPRM1 distal promoter activity in mor-expressing neuronal cells. May play a role in ameloblast differentiation.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11197","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11197"},{"label":"UniProt Q9Y651","url":"https://www.uniprot.org/uniprotkb/Q9Y651/entry"},{"label":"NCBI Gene 11166","url":"https://www.ncbi.nlm.nih.gov/gene/11166"},{"label":"Ensembl ENSG00000125285","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125285"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SOX21","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11197","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11197","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y651","url":"https://www.uniprot.org/uniprotkb/Q9Y651/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SOX21","url":"https://www.intogen.org/search?gene=SOX21","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11197","ensembl":"ENSG00000125285","uniprot":"Q9Y651","entrez":"11166","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Denny et al, Nucleic Acids Res, 1992, \"A conserved family of genes related to the testis determining gene, SRY\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1614875/","biology":"May play a role as an activator of transcription of OPRM1. Overexpression of SOX21 can up-regulate the OPRM1 distal promoter activity in mor-expressing neuronal cells. May play a role in ameloblast differentiation. Location: Nucleus (UniProt). Locus 13q32.1 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"sox9","kind":"target","name":"SOX9","aka":["SRY-box transcription factor 9","Transcription factor SOX-9","SRA1","CMD1","CMPD1"],"tldr":"SOX9 (Transcription factor SOX-9) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer.","summary":"Transcription factor that plays a key role in chondrocytes differentiation and skeletal development. Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6. Also binds to some promoter regions.\n\nOpen Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 1.00, animal model 0.51, genetic association 0.66, somatic mutation 0.73). IntOGen calls it a driver in 5 cohorts (0 activating, 5 loss-of-function), covering Colon Adenocarcinoma, Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11204","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11204"},{"label":"UniProt P48436","url":"https://www.uniprot.org/uniprotkb/P48436/entry"},{"label":"NCBI Gene 6662","url":"https://www.ncbi.nlm.nih.gov/gene/6662"},{"label":"Ensembl ENSG00000125398","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125398"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-colorectal-comprehensive-characterization-nature-2012"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: inactivating mutation in 10 to 12%, one of the three genes the TCGA analysis added to the colorectal driver list with ARID1A and FAM123B (Cancer Genome Atlas Network 2012)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SOX9","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11204","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11204","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P48436","url":"https://www.uniprot.org/uniprotkb/P48436/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000125398","url":"https://platform.opentargets.org/target/ENSG00000125398/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: colorectal cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen SOX9","url":"https://www.intogen.org/search?gene=SOX9","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11204","ensembl":"ENSG00000125398","uniprot":"P48436","entrez":"6662","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Foster J.W. et al, Nature, 1994, \"Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7990924/","biology":"Transcription factor that plays a key role in chondrocytes differentiation and skeletal development. Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6. Also binds to some promoter regions. Plays a central role in successive steps of chondrocyte differentiation. Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes. Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis. Location: Nucleus (UniProt). Locus 17q24.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.64 with colorectal cancer (MONDO_0005575); IntOGen driver in 5 cohorts (COAD, COADREAD)","Colorectal cancer: inactivating mutation 10-12%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"colorectal","pct":"10-12","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 869 of 7,237, 12.0%, in crc_msk_2026; 64 of 534, 12.0%, in coadread_tcga_pan_can_atlas_2018; 62 of 619, 10.0%, in coadread_dfci_2016; 154 of 1,516, 10.2%, in crc_eo_2020; 107 of 1,134, 9.4%, in crc_msk_2017. Named as a new significantly mutated gene by the TCGA analysis (Cancer Genome Atlas Network 2012)."}]},{"id":"sp140","kind":"target","name":"SP140","aka":["SP140 nuclear body protein","Nuclear body protein SP140","LYSP100-B","LYSP100-A"],"tldr":"SP140 (Nuclear body protein SP140) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Multiple myeloma and Mantle cell lymphoma.","summary":"Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body. May be involved in the pathogenesis of acute promyelocytic leukaemia and viral infection. May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17133","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17133"},{"label":"UniProt Q13342","url":"https://www.uniprot.org/uniprotkb/Q13342/entry"},{"label":"NCBI Gene 11262","url":"https://www.ncbi.nlm.nih.gov/gene/11262"},{"label":"Ensembl ENSG00000079263","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000079263"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["multiple-myeloma","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SP140","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17133","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17133","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13342","url":"https://www.uniprot.org/uniprotkb/Q13342/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SP140","url":"https://civicdb.org/features/8996","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SP140","url":"https://www.intogen.org/search?gene=SP140","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SP140: RNA group enriched (intestine 15 nTPM, lymphoid tissue 52 nTPM); high antibody staining in 2 normal tissues. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q13342","url":"https://www.uniprot.org/uniprotkb/Q13342/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SP140","url":"https://civicdb.org/features/8996","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SP140","url":"https://www.intogen.org/search?gene=SP140","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SP140 tissue","url":"https://www.proteinatlas.org/ENSG00000079263-SP140/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000079263 associations","url":"https://platform.opentargets.org/target/ENSG00000079263/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17133","ensembl":"ENSG00000079263","uniprot":"Q13342","entrez":"11262","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dent A.L. et al, Blood, 1996, \"LYSP100-associated nuclear domains (LANDs): description of a new class of subnuclear structures and their relationship to PML nuclear bodies\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8695863/","biology":"Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body. May be involved in the pathogenesis of acute promyelocytic leukaemia and viral infection. May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails. Location: Nucleus; Nucleus, PML body; Cytoplasm (UniProt). Locus 2q37.1 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Mantle cell lymphoma: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"spdl1","kind":"target","name":"SPDL1","aka":["spindle apparatus coiled-coil protein 1","FLJ20364","hSpindly","CCDC99"],"tldr":"SPDL1 (spindle apparatus coiled-coil protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Required for the localisation of dynein and dynactin to the mitotic kinetochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on kinetochore-microtubule attachments mediated by the NDC80 complex. Also required for correct spindle orientation.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.73).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26010"},{"label":"UniProt Q96EA4","url":"https://www.uniprot.org/uniprotkb/Q96EA4/entry"},{"label":"NCBI Gene 54908","url":"https://www.ncbi.nlm.nih.gov/gene/54908"},{"label":"Ensembl ENSG00000040275","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000040275"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SPDL1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:26010","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26010","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96EA4","url":"https://www.uniprot.org/uniprotkb/Q96EA4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000040275","url":"https://platform.opentargets.org/target/ENSG00000040275/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: prostate cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:26010","ensembl":"ENSG00000040275","uniprot":"Q96EA4","entrez":"54908","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gu Y.Q. et al, 2000, \"Cloning a novel human cDNA having elevated expression when induced with arsenite\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96EA4/entry","biology":"Required for the localisation of dynein and dynactin to the mitotic kinetochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on kinetochore-microtubule attachments mediated by the NDC80 complex. Also required for correct spindle orientation. Does not appear to be required for the removal of spindle assembly checkpoint (SAC) proteins from the kinetochore upon bipolar spindle attachment. Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track). Location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Chromosome, centromere, kinetochore; Nucleus; Cytoplasm, cytoskeleton, spindle pole (UniProt). Locus 5q35.1 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"spen","kind":"target","name":"SPEN","aka":["spen family transcriptional repressor","Msx2-interacting protein","KIAA0929","SHARP","RBM15C"],"tldr":"SPEN (Msx2-interacting protein) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Non-Hodgkin lymphoma, Renal cell carcinoma and 5 more.","summary":"May serve as a nuclear matrix platform that organises and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergises with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes literature 0.89, genetic association 0.21, somatic mutation 0.86). IntOGen calls it a driver in 20 cohorts (1 activating, 18 loss-of-function), covering Acute Myeloid Leukaemia, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cervical Squamous Cell Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Diffuse Large B-Cell Lymphoma, NOS and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17575","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17575"},{"label":"UniProt Q96T58","url":"https://www.uniprot.org/uniprotkb/Q96T58/entry"},{"label":"NCBI Gene 23013","url":"https://www.ncbi.nlm.nih.gov/gene/23013"},{"label":"Ensembl ENSG00000065526","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000065526"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","non-hodgkin-lymphoma","rcc","cervical","nasopharyngeal","prostate","salivary-gland","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 18 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SPEN","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:17575","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17575","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96T58","url":"https://www.uniprot.org/uniprotkb/Q96T58/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SPEN","url":"https://civicdb.org/features/9216","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000065526","url":"https://platform.opentargets.org/target/ENSG00000065526/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: colorectal cancer 0.51, melanoma 0.56, acute lymphoblastic leukaemia 0.52, non-Hodgkin lymphoma 0.57, skin cancer 0.56, breast cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen SPEN","url":"https://www.intogen.org/search?gene=SPEN","note":"driver in 20 cohorts (Act 1, LoF 18); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SPEN: RNA low tissue specificity; high antibody staining in 32 normal tissues; highest cancer staining carcinoid (4 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lymphoma, Renal cell carcinoma, Cervical cancer, Nasopharyngeal carcinoma, Prostate cancer, Salivary gland cancers and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q96T58","url":"https://www.uniprot.org/uniprotkb/Q96T58/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SPEN","url":"https://civicdb.org/features/9216","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SPEN","url":"https://www.intogen.org/search?gene=SPEN","note":"driver in 20 cohorts (Act 1, LoF 18); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SPEN tissue","url":"https://www.proteinatlas.org/ENSG00000065526-SPEN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000065526 associations","url":"https://platform.opentargets.org/target/ENSG00000065526/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:17575","ensembl":"ENSG00000065526","uniprot":"Q96T58","entrez":"23013","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rhodes et al, 1999.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96T58/entry","biology":"May serve as a nuclear matrix platform that organises and integrates transcriptional responses. In osteoblasts, supports transcription activation: synergises with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE). Has also been shown to be an essential corepressor protein, which probably regulates different key pathways such as the Notch pathway. Negative regulator of the Notch pathway via its interaction with RBPSUH, which prevents the association between NOTCH1 and RBPSUH, and therefore suppresses the transactivation activity of Notch signalling. Blocks the differentiation of precursor B-cells into marginal zone B-cells. Probably represses transcription via the recruitment of large complexes containing histone deacetylase proteins. Location: Nucleus (UniProt). Locus 1p36.21-p36.13 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254); IntOGen driver in 5 cohorts (BRCA)","Non-Hodgkin lymphoma: Open Targets association 0.57 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 1 cohort (MLYM)","Renal cell carcinoma: IntOGen driver in 1 cohort (CCRCC)","Cervical cancer: IntOGen driver in 1 cohort (CESC)","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"transcription","prevalence":[]},{"id":"sphk1","kind":"target","name":"SPHK1","aka":["sphingosine kinase 1","Sphingosine kinase 1"],"tldr":"SPHK1 (Sphingosine kinase 1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Cervical cancer.","summary":"Catalyses the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol. In contrast to proapoptotic SPHK2, has a negative effect on intracellular ceramide levels, enhances cell growth and inhibits apoptosis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11240","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11240"},{"label":"UniProt Q9NYA1","url":"https://www.uniprot.org/uniprotkb/Q9NYA1/entry"},{"label":"NCBI Gene 8877","url":"https://www.ncbi.nlm.nih.gov/gene/8877"},{"label":"Ensembl ENSG00000176170","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000176170"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["cervical"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SPHK1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11240","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11240","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NYA1","url":"https://www.uniprot.org/uniprotkb/Q9NYA1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SPHK1","url":"https://civicdb.org/features/7041","note":"1 evidence items, 0 assertions, 1 variants; diseases: Cervical Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA SPHK1: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Cervical cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SPHK1 tissue","url":"https://www.proteinatlas.org/ENSG00000176170-SPHK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000176170 associations","url":"https://platform.opentargets.org/target/ENSG00000176170/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11240","ensembl":"ENSG00000176170","uniprot":"Q9NYA1","entrez":"8877","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Van Veldhoven P.P. et al, 1999.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9NYA1/entry","biology":"Catalyses the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol. In contrast to proapoptotic SPHK2, has a negative effect on intracellular ceramide levels, enhances cell growth and inhibits apoptosis. Involved in the regulation of inflammatory response and neuroinflammation. Via the product sphingosine 1-phosphate, stimulates TRAF2 E3 ubiquitin ligase activity, and promotes activation of NF-kappa-B in response to TNF signalling leading to IL17 secretion. In response to TNF and in parallel to NF-kappa-B activation, negatively regulates RANTES induction through p38 MAPK signalling pathway. Location: Cytoplasm; Nucleus; Cell membrane; Endosome membrane (UniProt). Locus 17q25.1 (HGNC).","whereFound":["Cervical cancer: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"spop","kind":"target","name":"SPOP","aka":["speckle type BTB/POZ protein","Speckle-type POZ protein","TEF2","BTBD32"],"tldr":"SPOP (Speckle-type POZ protein) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer, Endometrial cancer, Non-Hodgkin lymphoma and 4 more.","summary":"Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of MACROH2A1 and BMI1; this does not lead to their proteasomal degradation.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 10 variants. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 1.00, genetic association 0.00, somatic mutation 0.92). IntOGen calls it a driver in 15 cohorts (14 activating, 1 loss-of-function), covering Non-Hodgkin Lymphoma, Prostate Adenocarcinoma, Prostate, Endometrial Carcinoma, Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11254","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11254"},{"label":"UniProt O43791","url":"https://www.uniprot.org/uniprotkb/O43791/entry"},{"label":"NCBI Gene 8405","url":"https://www.ncbi.nlm.nih.gov/gene/8405"},{"label":"Ensembl ENSG00000121067","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121067"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["prostate","endometrial","non-hodgkin-lymphoma","ovarian","skin-cancer","uterine-carcinosarcoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-barbieri-spop-foxa1-med12-prostate-nat-genet-2012","paper-stopsack-mcspc-genomic-alterations-outcomes-ccr-2020"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 14 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 9 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SPOP","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11254","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11254","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43791","url":"https://www.uniprot.org/uniprotkb/O43791/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SPOP","url":"https://civicdb.org/features/6652","note":"9 evidence items, 0 assertions, 10 variants; diseases:  (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000121067","url":"https://platform.opentargets.org/target/ENSG00000121067/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: prostate cancer 0.72, ovarian cancer 0.52, endometrial cancer 0.62, melanoma 0.52, skin cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen SPOP","url":"https://www.intogen.org/search?gene=SPOP","note":"driver in 15 cohorts (Act 14, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SPOP: RNA low tissue specificity; no normal tissue stained high. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Endometrial cancer, Lymphoma, Ovarian cancer, Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (prostate adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O43791","url":"https://www.uniprot.org/uniprotkb/O43791/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SPOP","url":"https://civicdb.org/features/6652","note":"9 evidence items, 0 assertions, 10 variants; diseases:  (GraphQL API, CC0)"},{"label":"IntOGen SPOP","url":"https://www.intogen.org/search?gene=SPOP","note":"driver in 15 cohorts (Act 14, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SPOP tissue","url":"https://www.proteinatlas.org/ENSG00000121067-SPOP/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000121067 associations","url":"https://platform.opentargets.org/target/ENSG00000121067/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11254","ensembl":"ENSG00000121067","uniprot":"O43791","entrez":"8405","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagai et al, FEBS Lett, 1997, \"Identification of a novel nuclear speckle-type protein, SPOP\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9414087/","biology":"Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates the ubiquitination of target proteins, leading most often to their proteasomal degradation. In complex with CUL3, involved in ubiquitination and proteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3. In complex with CUL3, involved in ubiquitination of MACROH2A1 and BMI1; this does not lead to their proteasomal degradation. Inhibits transcriptional activation of PDX1/IPF1 targets, such as insulin, by promoting PDX1/IPF1 degradation. The cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing homodimeric SPOP has higher ubiquitin ligase activity than the complex that contains the heterodimer formed by SPOP and SPOPL. Involved in the regulation of bromodomain and extra-terminal motif (BET) proteins BRD2, BRD3, BRD4 stability. Location: Nucleus; Nucleus speckle; Cytoplasm (UniProt). Locus 17q21.33 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.72 with prostate cancer (MONDO_0008315); IntOGen driver in 12 cohorts (PRAD, PROSTATE)","Endometrial cancer: Open Targets association 0.62 with endometrial cancer (MONDO_0011962); IntOGen driver in 1 cohort (UCEC)","Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (NHL)","Ovarian cancer: Open Targets association 0.52 with ovarian cancer (MONDO_0008170)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Uterine carcinosarcoma: IntOGen driver in 1 cohort (UCS)","Prostate cancer: missense mutation in the substrate-binding cleft 6-14% depending on disease state"],"targetClass":"oncogene","prevalence":[{"cancerId":"prostate","pct":"6-14","measure":"Missense mutation in the substrate-binding cleft","source":"https://www.cbioportal.org/study/summary?id=prostate_msk_2024","note":"cBioPortal: 318 of 2,260, 14.1%, in prostate_msk_2024; 260 of 2,069, 12.6%, in prad_msk_stopsack_2021; 166 of 1,465, 11.3%, in prad_cdk12_mskcc_2020; 55 of 494, 11.1%, in prad_tcga_pan_can_atlas_2018 and 37 of 333, 11.1%, in prad_tcga_pub; 14 of 112, 12.5%, in prad_broad; 53 of 424, 12.5%, in prad_mcspc_mskcc_2020; 92 of 1,013, 9.1%, in prad_p1000; 38 of 477, 8.0%, in prad_cpcg_2017; 25 of 444, 5.6%, in prad_su2c_2019; 11 of 65, 16.9%, in prad_eururol_2017. The discovery series put it at 6 to 15% across several independent cohorts (Barbieri 2012)."}]},{"id":"spry2","kind":"target","name":"SPRY2","aka":["sprouty RTK signaling antagonist 2","Protein sprouty homolog 2","hSPRY2"],"tldr":"SPRY2 (Protein sprouty homolog 2) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"Antagonist of fibroblast growth factor (FGF) pathways via inhibition of FGF-mediated phosphorylation of ERK1/2. Thereby acts as an antagonist of FGF-induced retinal lens fibre differentiation, may inhibit limb bud outgrowth and may negatively modulate respiratory organogenesis. Inhibits TGFB-induced epithelial-to-mesenchymal transition in retinal lens epithelial cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11270","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11270"},{"label":"UniProt O43597","url":"https://www.uniprot.org/uniprotkb/O43597/entry"},{"label":"NCBI Gene 10253","url":"https://www.ncbi.nlm.nih.gov/gene/10253"},{"label":"Ensembl ENSG00000136158","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136158"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SPRY2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11270","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11270","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43597","url":"https://www.uniprot.org/uniprotkb/O43597/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SPRY2","url":"https://civicdb.org/features/8160","note":"1 evidence items, 0 assertions, 1 variants; diseases: Gastric Adenocarcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA SPRY2: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining liver cancer (5 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SPRY2 tissue","url":"https://www.proteinatlas.org/ENSG00000136158-SPRY2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000136158 associations","url":"https://platform.opentargets.org/target/ENSG00000136158/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11270","ensembl":"ENSG00000136158","uniprot":"O43597","entrez":"10253","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hacohen et al, Cell, 1998, \"Sprouty encodes a novel antagonist of FGF signaling that patterns apical branching of the Drosophila airways\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9458049/","biology":"Antagonist of fibroblast growth factor (FGF) pathways via inhibition of FGF-mediated phosphorylation of ERK1/2. Thereby acts as an antagonist of FGF-induced retinal lens fibre differentiation, may inhibit limb bud outgrowth and may negatively modulate respiratory organogenesis. Inhibits TGFB-induced epithelial-to-mesenchymal transition in retinal lens epithelial cells. Inhibits CBL/C-CBL-mediated EGFR ubiquitination. Location: Cytoplasm, cytoskeleton; Cell projection, ruffle membrane (UniProt). Locus 13q31.1 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"spry4","kind":"target","name":"SPRY4","aka":["sprouty RTK signaling antagonist 4"],"tldr":"SPRY4 is a feedback brake on growth-factor signalling that the MAPK pathway switches on, so its expression is a read-out of how active that pathway is.","summary":"SPRY4, like SPRY2, is a Sprouty family feedback inhibitor: UniProt describes it as suppressing receptor-driven MAPK signalling upstream of Ras and RAF1. Because the pathway induces its own inhibitors, SPRY2, SPRY4 and the DUSP phosphatases are the transcriptional output genes used to infer MAPK activity from expression, and they fall when a MEK inhibitor works.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:15533","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15533"},{"label":"UniProt Q9C004","url":"https://www.uniprot.org/uniprotkb/Q9C004/entry"}],"tags":["cansim-terms"],"related":["spry2"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ras-mapk"],"terms":["co-amplification","cancer-ai-vocabulary","pathway-activation-state"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"SPRY4","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:15533","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15533","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt Q9C004","url":"https://www.uniprot.org/uniprotkb/Q9C004/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:15533","ensembl":"ENSG00000187678","uniprot":"Q9C004","entrez":"81848","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Leeksma O.C. et al, Eur. J. Biochem, 2002, \"Human sprouty 4, a new ras antagonist on 5q31, interacts with the dual specificity kinase TESK1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12027893/","biology":"Suppresses insulin receptor and EGFR-transduced MAPK signalling, probably by impairing GTP-Ras formation; inhibits Ras-independent activation of RAF1 (UniProt Q9C004).","whereFound":["Locus 5q31.3 (HGNC)."],"targetClass":"other","prevalence":[]},{"id":"sptbn1","kind":"target","name":"SPTBN1","aka":["spectrin beta, non-erythrocytic 1","Spectrin beta chain, non-erythrocytic 1"],"tldr":"SPTBN1 (Spectrin beta chain, non-erythrocytic 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous system development and function.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.95, animal model 0.51, genetic association 0.28).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11275","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11275"},{"label":"UniProt Q01082","url":"https://www.uniprot.org/uniprotkb/Q01082/entry"},{"label":"NCBI Gene 6711","url":"https://www.ncbi.nlm.nih.gov/gene/6711"},{"label":"Ensembl ENSG00000115306","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115306"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SPTBN1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11275","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11275","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01082","url":"https://www.uniprot.org/uniprotkb/Q01082/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000115306","url":"https://platform.opentargets.org/target/ENSG00000115306/associations","note":"association with cancer (MONDO_0004992) 0.65;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11275","ensembl":"ENSG00000115306","uniprot":"Q01082","entrez":"6711","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hu R.J. et al, J. Biol. Chem, 1992, \"Characterization of human brain cDNA encoding the general isoform of beta-spectrin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1527002/","biology":"Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous system development and function. Location: Cytoplasm, cytoskeleton; Cytoplasm, myofibril, sarcomere, M line; Cytoplasm, cytosol; Cell membrane (UniProt). Locus 2p16.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"sqstm1","kind":"target","name":"SQSTM1","aka":["sequestosome 1","Sequestosome-1","p62","p60","p62B","A170","PDB3"],"tldr":"SQSTM1 (Sequestosome-1) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas and Osteosarcoma.","summary":"Molecular adapter required for selective macroautophagy (aggrephagy) by acting as a bridge between polyubiquitinated proteins and autophagosomes. Promotes the recruitment of ubiquitinated cargo proteins to autophagosomes via multiple domains that bridge proteins and organelles in different steps. SQSTM1 first mediates the assembly and removal of ubiquitinated proteins by undergoing liquid-liquid phase separation upon binding to ubiquitinated proteins via its UBA domain, leading to the formation of insoluble cytoplasmic inclusions, known as p62 bodies.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes genetic literature 0.79, affected pathway 0.76, literature 0.99, genetic association 0.12, animal model 0.39).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11280","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11280"},{"label":"UniProt Q13501","url":"https://www.uniprot.org/uniprotkb/Q13501/entry"},{"label":"NCBI Gene 8878","url":"https://www.ncbi.nlm.nih.gov/gene/8878"},{"label":"Ensembl ENSG00000161011","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000161011"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","osteosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SQSTM1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11280","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11280","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13501","url":"https://www.uniprot.org/uniprotkb/Q13501/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000161011","url":"https://platform.opentargets.org/target/ENSG00000161011/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: sarcoma 0.50, osteosarcoma 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11280","ensembl":"ENSG00000161011","uniprot":"Q13501","entrez":"8878","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Devergne et al, J. Virol, 1996, \"A novel interleukin-12 p40-related protein induced by latent Epstein-Barr virus infection in B lymphocytes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8551575/","biology":"Molecular adapter required for selective macroautophagy (aggrephagy) by acting as a bridge between polyubiquitinated proteins and autophagosomes. Promotes the recruitment of ubiquitinated cargo proteins to autophagosomes via multiple domains that bridge proteins and organelles in different steps. SQSTM1 first mediates the assembly and removal of ubiquitinated proteins by undergoing liquid-liquid phase separation upon binding to ubiquitinated proteins via its UBA domain, leading to the formation of insoluble cytoplasmic inclusions, known as p62 bodies. SQSTM1 then interacts with ATG8 family proteins on autophagosomes via its LIR motif, leading to p62 body recruitment to autophagosomes, followed by autophagic clearance of ubiquitinated proteins. SQSTM1 is itself degraded along with its ubiquitinated cargos. Also required to recruit ubiquitinated proteins to PML bodies in the nucleus. Location: Cytoplasmic vesicle, autophagosome; Preautophagosomal structure; Cytoplasm, cytosol; Nucleus, PML body (UniProt). Locus 5q35.3 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.50 with sarcoma (MONDO_0005089)","Osteosarcoma: Open Targets association 0.50 with osteosarcoma (MONDO_0009807)"],"targetClass":"other","prevalence":[]},{"id":"src","kind":"target","name":"SRC family kinases","aka":[],"tldr":"The first cancer gene ever identified, a kinase that relays growth, adhesion and movement signals. Dasatinib and bosutinib were designed as BCR::ABL1 drugs but also hit SRC-family kinases, part of the reason they work when imatinib has failed.","summary":"SRC, discovered through the Rous sarcoma virus, heads a family of non-receptor tyrosine kinases (SRC, LYN, LCK, HCK, FYN, YES1) that sit downstream of growth-factor receptors and integrins. Dasatinib and bosutinib inhibit both BCR::ABL1 and SRC-family kinases and are approved for chronic myeloid leukaemia and, for dasatinib, Philadelphia chromosome-positive acute lymphoblastic leukaemia; LYN signalling contributes to imatinib resistance, so the dual activity matters. Selective SRC inhibitors have not succeeded in solid tumours despite frequent SRC activation, a reminder that activation and dependency are not the same thing.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Proto-oncogene_tyrosine-protein_kinase_Src","links":[{"label":"UniProt P12931: SRC","url":"https://www.uniprot.org/uniprotkb/P12931/entry"}],"tags":[],"related":[],"cancers":["cml","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":["dasatinib","bosutinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"SRC","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Dasatinib, Bosutinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA SRC: RNA low tissue specificity; blood lineage group enriched (dendritic cells 1 nTPM, monocytes 2 nTPM); high antibody staining in 10 normal tissues; highest cancer staining skin cancer (5 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 4 specific cancer types at or above 0.5 (chronic myeloid leukemia, actinic keratosis, acute lymphoblastic leukemia, medullary thyroid gland carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SRC tissue","url":"https://www.proteinatlas.org/ENSG00000197122-SRC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000197122 associations","url":"https://platform.opentargets.org/target/ENSG00000197122/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11283","ensembl":"ENSG00000197122","uniprot":"P12931","entrez":"6714","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Anderson S.K. et al, Mol. Cell. Biol, 1985, \"Human cellular src gene: nucleotide sequence and derived amino acid sequence of the region coding for the carboxy-terminal two-thirds of pp60c-src\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2582238/","biology":"Non-receptor tyrosine kinase family downstream of receptor tyrosine kinases and integrins; dual BCR::ABL1 and SRC-family inhibition by dasatinib and bosutinib.","whereFound":["Chronic myeloid leukaemia and Ph-positive ALL (as a secondary target)","Activated in many solid tumours without proven dependency"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (SRC family kinases); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"srd5a1","kind":"target","name":"SRD5A1","aka":["steroid 5 alpha-reductase 1","3-oxo-5-alpha-steroid 4-dehydrogenase 1"],"tldr":"SRD5A1 (3-oxo-5-alpha-steroid 4-dehydrogenase 1) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Prostate cancer.","summary":"Catalyses the irreversible stereospecific reduction of the delta 4,5 bond (double bond between carbons 4 and 5) of various 3-oxo steroids (3-keto steroids) producing their 5alpha dihydro-3-oxo forms. Converts testosterone into 5-alpha-dihydrotestosterone (DHT), a more potent androgen as it is the preferred ligand for androgen receptor (AR) transactivation, making this reaction a key step in male sexual differentiation during development. Besides testosterone, it can also act on other steroids, including progesterone, androstenedione, and corticoids, producing metabolites with diverse roles.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.82, genetic association 0.03, clinical 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11284","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11284"},{"label":"UniProt P18405","url":"https://www.uniprot.org/uniprotkb/P18405/entry"},{"label":"NCBI Gene 6715","url":"https://www.ncbi.nlm.nih.gov/gene/6715"},{"label":"Ensembl ENSG00000145545","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000145545"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SRD5A1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11284","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11284","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P18405","url":"https://www.uniprot.org/uniprotkb/P18405/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000145545","url":"https://platform.opentargets.org/target/ENSG00000145545/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: prostate cancer 0.60 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SRD5A1: RNA tissue enhanced (liver 27 nTPM); high antibody staining in 7 normal tissues; highest cancer staining prostate cancer (4 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (benign prostatic hyperplasia, prostate cancer, prostate carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SRD5A1 tissue","url":"https://www.proteinatlas.org/ENSG00000145545-SRD5A1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000145545 associations","url":"https://platform.opentargets.org/target/ENSG00000145545/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11284","ensembl":"ENSG00000145545","uniprot":"P18405","entrez":"6715","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Andersson et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Structural and biochemical properties of cloned and expressed human and rat steroid 5 alpha-reductases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2339109/","biology":"Catalyses the irreversible stereospecific reduction of the delta 4,5 bond (double bond between carbons 4 and 5) of various 3-oxo steroids (3-keto steroids) producing their 5alpha dihydro-3-oxo forms. Converts testosterone into 5-alpha-dihydrotestosterone (DHT), a more potent androgen as it is the preferred ligand for androgen receptor (AR) transactivation, making this reaction a key step in male sexual differentiation during development. Besides testosterone, it can also act on other steroids, including progesterone, androstenedione, and corticoids, producing metabolites with diverse roles. Hence, it plays a central role in sexual differentiation and androgen physiology. Location: Microsome membrane; Endoplasmic reticulum membrane (UniProt). Locus 5p15.31 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.60 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"srd5a3","kind":"target","name":"SRD5A3","aka":["steroid 5 alpha-reductase 3","Polyprenal reductase","FLJ13352","SRD5A2L","SRD5A2L1"],"tldr":"SRD5A3 (Polyprenal reductase) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Prostate cancer.","summary":"Plays a key role in early steps of protein N-linked glycosylation by being involved in the conversion of polyprenol into dolichol. Acts as a polyprenal reductase that mediates the reduction of polyprenal into dolichal in a NADP-dependent mechanism. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.00, clinical 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25812","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25812"},{"label":"UniProt Q9H8P0","url":"https://www.uniprot.org/uniprotkb/Q9H8P0/entry"},{"label":"NCBI Gene 79644","url":"https://www.ncbi.nlm.nih.gov/gene/79644"},{"label":"Ensembl ENSG00000128039","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128039"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SRD5A3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:25812","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25812","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H8P0","url":"https://www.uniprot.org/uniprotkb/Q9H8P0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000128039","url":"https://platform.opentargets.org/target/ENSG00000128039/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: prostate cancer 0.59 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA SRD5A3: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (benign prostatic hyperplasia, prostate cancer, prostate carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SRD5A3 tissue","url":"https://www.proteinatlas.org/ENSG00000128039-SRD5A3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000128039 associations","url":"https://platform.opentargets.org/target/ENSG00000128039/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:25812","ensembl":"ENSG00000128039","uniprot":"Q9H8P0","entrez":"79644","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Plays a key role in early steps of protein N-linked glycosylation by being involved in the conversion of polyprenol into dolichol. Acts as a polyprenal reductase that mediates the reduction of polyprenal into dolichal in a NADP-dependent mechanism. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT). Location: Endoplasmic reticulum membrane (UniProt). Locus 4q12 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"srgap1","kind":"target","name":"SRGAP1","aka":["SLIT-ROBO Rho GTPase activating protein 1","SLIT-ROBO Rho GTPase-activating protein 1","KIAA1304","ARHGAP13"],"tldr":"SRGAP1 (SLIT-ROBO Rho GTPase-activating protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Thyroid cancer.","summary":"GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signalling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.83, genetic association 0.82, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17382","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17382"},{"label":"UniProt Q7Z6B7","url":"https://www.uniprot.org/uniprotkb/Q7Z6B7/entry"},{"label":"NCBI Gene 57522","url":"https://www.ncbi.nlm.nih.gov/gene/57522"},{"label":"Ensembl ENSG00000196935","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196935"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SRGAP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17382","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17382","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z6B7","url":"https://www.uniprot.org/uniprotkb/Q7Z6B7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196935","url":"https://platform.opentargets.org/target/ENSG00000196935/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: thyroid cancer 0.69 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17382","ensembl":"ENSG00000196935","uniprot":"Q7Z6B7","entrez":"57522","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10718198/","biology":"GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signalling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42. Locus 12q14.2 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.69 with thyroid cancer (MONDO_0002108)"],"targetClass":"other","prevalence":[]},{"id":"srgap3","kind":"target","name":"SRGAP3","aka":["SLIT-ROBO Rho GTPase activating protein 3","SLIT-ROBO Rho GTPase-activating protein 3","KIAA0411","MEGAP","ARHGAP14","SRGAP2"],"tldr":"SRGAP3 (SLIT-ROBO Rho GTPase-activating protein 3) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma and Pleural mesothelioma.","summary":"GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signalling in neurons.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:19744","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19744"},{"label":"UniProt O43295","url":"https://www.uniprot.org/uniprotkb/O43295/entry"},{"label":"NCBI Gene 9901","url":"https://www.ncbi.nlm.nih.gov/gene/9901"},{"label":"Ensembl ENSG00000196220","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196220"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["mesothelioma","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SRGAP3","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:19744","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:19744","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43295","url":"https://www.uniprot.org/uniprotkb/O43295/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SRGAP3","url":"https://www.intogen.org/search?gene=SRGAP3","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:19744","ensembl":"ENSG00000196220","uniprot":"O43295","entrez":"9901","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ishikawa et al, DNA Res, 1997, \"Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9455477/","biology":"GTPase-activating protein for RAC1 and perhaps Cdc42, but not for RhoA small GTPase. May attenuate RAC1 signalling in neurons. Locus 3p25.3 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"oncogene","prevalence":[]},{"id":"srms","kind":"target","name":"SRMS","aka":["src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites","Tyrosine-protein kinase Srms","dJ697K14.1","PTK70","C20orf148"],"tldr":"SRMS (Tyrosine-protein kinase Srms) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 2 more.","summary":"Non-receptor tyrosine-protein kinase which phosphorylates DOK1 on tyrosine residues. Also phosphorylates KHDRBS1/SAM68 and VIM on tyrosine residues. Phosphorylation of KHDRBS1 is EGF-dependent.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.40, genetic association 0.00, clinical 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11298","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11298"},{"label":"UniProt Q9H3Y6","url":"https://www.uniprot.org/uniprotkb/Q9H3Y6/entry"},{"label":"NCBI Gene 6725","url":"https://www.ncbi.nlm.nih.gov/gene/6725"},{"label":"Ensembl ENSG00000125508","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125508"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","non-hodgkin-lymphoma","cml","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SRMS","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11298","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11298","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H3Y6","url":"https://www.uniprot.org/uniprotkb/Q9H3Y6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000125508","url":"https://platform.opentargets.org/target/ENSG00000125508/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.54, non-Hodgkin lymphoma 0.55, chronic myelogenous leukaemia, BCR-ABL1 positive 0.58, myeloproliferative neoplasm 0.58, leukaemia 0.59 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SRMS: RNA tissue enhanced (epididymis 2 nTPM, lymphoid tissue 2 nTPM, stomach 1 2 nTPM); no normal tissue stained high; highest cancer staining head and neck cancer (2 of 3 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Myeloid neoplasms, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (chronic myeloid leukemia, acute lymphoblastic leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SRMS tissue","url":"https://www.proteinatlas.org/ENSG00000125508-SRMS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000125508 associations","url":"https://platform.opentargets.org/target/ENSG00000125508/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11298","ensembl":"ENSG00000125508","uniprot":"Q9H3Y6","entrez":"6725","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deloukas et al, Nature, 2001, \"The DNA sequence and comparative analysis of human chromosome 20\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11780052/","biology":"Non-receptor tyrosine-protein kinase which phosphorylates DOK1 on tyrosine residues. Also phosphorylates KHDRBS1/SAM68 and VIM on tyrosine residues. Phosphorylation of KHDRBS1 is EGF-dependent. Phosphorylates OTUB1, promoting deubiquitination of RPTOR. Location: Cytoplasm (UniProt). Locus 20q13.33 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.59 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.58 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Chronic myeloid leukaemia: Open Targets association 0.58 with chronic myelogenous leukaemia, BCR-ABL1 positive (MONDO_0011996)","Acute lymphoblastic leukaemia: Open Targets association 0.54 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"kinase","prevalence":[]},{"id":"srsf2","kind":"target","name":"SRSF2","aka":["serine and arginine rich splicing factor 2","Serine/arginine-rich splicing factor 2","SC-35","SC35","PR264","SFRS2A","SFRS2"],"tldr":"SRSF2 (Serine/arginine-rich splicing factor 2) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Myelodysplastic syndromes / neoplasms and 3 more.","summary":"Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 3 variants, naming CTX-712. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.61, genetic association 0.79, somatic mutation 0.90). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10783","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10783"},{"label":"UniProt Q01130","url":"https://www.uniprot.org/uniprotkb/Q01130/entry"},{"label":"NCBI Gene 6427","url":"https://www.ncbi.nlm.nih.gov/gene/6427"},{"label":"Ensembl ENSG00000161547","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000161547"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","mds","non-hodgkin-lymphoma","skin-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["rna-splicing"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myeloid Neoplasm."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SRSF2","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10783","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10783","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01130","url":"https://www.uniprot.org/uniprotkb/Q01130/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SRSF2","url":"https://civicdb.org/features/5210","note":"4 evidence items, 0 assertions, 3 variants; diseases: Myeloid Neoplasm, Acute Myeloid Leukaemia, Myelodysplastic Syndrome (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000161547","url":"https://platform.opentargets.org/target/ENSG00000161547/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.79, non-Hodgkin lymphoma 0.51, skin cancer 0.50, myelodysplastic syndrome 0.68, myeloproliferative neoplasm 0.83, leukaemia 0.83 (GraphQL API, CC0)"},{"label":"IntOGen SRSF2","url":"https://www.intogen.org/search?gene=SRSF2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SRSF2: RNA low tissue specificity; high antibody staining in 30 normal tissues; highest cancer staining melanoma (11 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lymphoma, Skin cancer (all types)); Open Targets associates it with 6 specific cancer types at or above 0.5 (acute myeloid leukemia, myelodysplastic syndrome, chronic myelomonocytic leukemia, myeloproliferative disorder, myeloid leukemia, monocytic leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q01130","url":"https://www.uniprot.org/uniprotkb/Q01130/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SRSF2","url":"https://civicdb.org/features/5210","note":"4 evidence items, 0 assertions, 3 variants; diseases: Myeloid Neoplasm, Acute Myeloid Leukaemia, Myelodysplastic Syndrome (GraphQL API, CC0)"},{"label":"IntOGen SRSF2","url":"https://www.intogen.org/search?gene=SRSF2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SRSF2 tissue","url":"https://www.proteinatlas.org/ENSG00000161547-SRSF2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000161547 associations","url":"https://platform.opentargets.org/target/ENSG00000161547/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10783","ensembl":"ENSG00000161547","uniprot":"Q01130","entrez":"6427","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Fu X.-D. et al, Science, 1992, \"Isolation of a complementary DNA that encodes the mammalian splicing factor SC35\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1373910/","biology":"Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G) or 5'-GTTCGAGTA-3'. Can bind to beta-globin mRNA and commit it to the splicing pathway. Location: Nucleus; Nucleus, nucleoplasm; Nucleus speckle (UniProt). Locus 17q25.2 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.83 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.83 with leukaemia (MONDO_0005059)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.68 with myelodysplastic syndrome (MONDO_0018881); CIViC evidence names this disease","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)","Acute myeloid leukaemia: Open Targets association 0.79 with acute myeloid leukaemia (MONDO_0018874); CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},{"id":"srsf3","kind":"target","name":"SRSF3","aka":["serine and arginine rich splicing factor 3","Serine/arginine-rich splicing factor 3","SRp20","SFRS3"],"tldr":"SRSF3 (Serine/arginine-rich splicing factor 3) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Splicing factor, which binds the consensus motif 5'-C[ACU][AU]C[ACU][AC]C-3' within pre-mRNA and promotes specific exons inclusion during alternative splicing. Interaction with YTHDC1, a RNA-binding protein that recognises and binds N6-methyladenosine (m6A)-containing RNAs, promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites within exons. Also functions as an adapter involved in mRNA nuclear export.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10785"},{"label":"UniProt P84103","url":"https://www.uniprot.org/uniprotkb/P84103/entry"},{"label":"NCBI Gene 6428","url":"https://www.ncbi.nlm.nih.gov/gene/6428"},{"label":"Ensembl ENSG00000112081","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112081"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SRSF3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10785","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P84103","url":"https://www.uniprot.org/uniprotkb/P84103/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000112081","url":"https://platform.opentargets.org/target/ENSG00000112081/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10785","ensembl":"ENSG00000112081","uniprot":"P84103","entrez":"6428","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zahler A.M. et al, Genes Dev, 1992, \"SR proteins: a conserved family of pre-mRNA splicing factors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1577277/","biology":"Splicing factor, which binds the consensus motif 5'-C[ACU][AU]C[ACU][AC]C-3' within pre-mRNA and promotes specific exons inclusion during alternative splicing. Interaction with YTHDC1, a RNA-binding protein that recognises and binds N6-methyladenosine (m6A)-containing RNAs, promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites within exons. Also functions as an adapter involved in mRNA nuclear export. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity. Involved in nuclear export of m6A-containing mRNAs via interaction with YTHDC1: interaction with YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export. Location: Nucleus; Nucleus speckle; Cytoplasm (UniProt). Locus 6p21.31-p21.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ss18","kind":"target","name":"SS18","aka":["SS18 subunit of BAF chromatin remodeling complex","SMARCL1"],"tldr":"SS18 (SS18 subunit of BAF chromatin remodeling complex) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas and Synovial sarcoma.","summary":"Appears to function synergistically with RBM14 as a transcriptional coactivator. Isoform 1 and isoform 2 function in nuclear receptor coactivation. Isoform 1 and isoform 2 function in general transcriptional coactivation.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.21, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11340","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11340"},{"label":"UniProt Q15532","url":"https://www.uniprot.org/uniprotkb/Q15532/entry"},{"label":"NCBI Gene 6760","url":"https://www.ncbi.nlm.nih.gov/gene/6760"},{"label":"Ensembl ENSG00000141380","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141380"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","synovial-sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SS18","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11340","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11340","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15532","url":"https://www.uniprot.org/uniprotkb/Q15532/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141380","url":"https://platform.opentargets.org/target/ENSG00000141380/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: sarcoma 0.61, synovial sarcoma 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11340","ensembl":"ENSG00000141380","uniprot":"Q15532","entrez":"6760","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Clark et al, Nat. Genet, 1994, \"Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7951320/","biology":"Appears to function synergistically with RBM14 as a transcriptional coactivator. Isoform 1 and isoform 2 function in nuclear receptor coactivation. Isoform 1 and isoform 2 function in general transcriptional coactivation. Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Location: Nucleus (UniProt). Locus 18q11.2 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.61 with sarcoma (MONDO_0005089)","Synovial sarcoma: Open Targets association 0.53 with synovial sarcoma (MONDO_0010434)"],"targetClass":"transcription","prevalence":[]},{"id":"sstr1","kind":"target","name":"SSTR1","aka":["somatostatin receptor 1","Somatostatin receptor type 1"],"tldr":"SSTR1 (Somatostatin receptor type 1) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours.","summary":"Receptor for somatostatin with higher affinity for somatostatin-14 than -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and Na(+)/H(+) exchanger via pertussis toxin insensitive G proteins.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.85, animal model 0.36, genetic association 0.00, clinical 0.90).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11330","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11330"},{"label":"UniProt P30872","url":"https://www.uniprot.org/uniprotkb/P30872/entry"},{"label":"NCBI Gene 6751","url":"https://www.ncbi.nlm.nih.gov/gene/6751"},{"label":"Ensembl ENSG00000139874","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139874"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SSTR1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11330","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11330","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P30872","url":"https://www.uniprot.org/uniprotkb/P30872/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000139874","url":"https://platform.opentargets.org/target/ENSG00000139874/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.59 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SSTR1: RNA tissue enhanced (brain 9 nTPM, intestine 13 nTPM, stomach 1 21 nTPM); high antibody staining in 4 normal tissues; highest cancer staining colorectal cancer (4 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (carcinoid tumor). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SSTR1 tissue","url":"https://www.proteinatlas.org/ENSG00000139874-SSTR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139874 associations","url":"https://platform.opentargets.org/target/ENSG00000139874/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11330","ensembl":"ENSG00000139874","uniprot":"P30872","entrez":"6751","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamada et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Cloning and functional characterization of a family of human and mouse somatostatin receptors expressed in brain, gastrointestinal tract, and kidney\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1346068/","biology":"Receptor for somatostatin with higher affinity for somatostatin-14 than -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and Na(+)/H(+) exchanger via pertussis toxin insensitive G proteins. Location: Cell membrane (UniProt). Locus 14q21.1 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.59 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"other","prevalence":[]},{"id":"sstr3","kind":"target","name":"SSTR3","aka":["somatostatin receptor 3","Somatostatin receptor type 3"],"tldr":"SSTR3 (Somatostatin receptor type 3) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours.","summary":"Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.50, genetic association 0.00, clinical 0.90).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11332","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11332"},{"label":"UniProt P32745","url":"https://www.uniprot.org/uniprotkb/P32745/entry"},{"label":"NCBI Gene 6753","url":"https://www.ncbi.nlm.nih.gov/gene/6753"},{"label":"Ensembl ENSG00000278195","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000278195"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SSTR3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11332","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11332","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P32745","url":"https://www.uniprot.org/uniprotkb/P32745/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000278195","url":"https://platform.opentargets.org/target/ENSG00000278195/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.59 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SSTR3: RNA tissue enhanced (brain 6 nTPM, lymphoid tissue 10 nTPM, testis 8 nTPM); blood lineage lineage enriched (T-cells 1 nTPM); high antibody staining in 4 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (carcinoid tumor). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SSTR3 tissue","url":"https://www.proteinatlas.org/ENSG00000278195-SSTR3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000278195 associations","url":"https://platform.opentargets.org/target/ENSG00000278195/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11332","ensembl":"ENSG00000278195","uniprot":"P32745","entrez":"6753","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamada et al, Mol. Endocrinol, 1992, \"Somatostatin receptors, an expanding gene family: cloning and functional characterization of human SSTR3, a protein coupled to adenylyl cyclase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1337145/","biology":"Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. Location: Cell membrane (UniProt). Locus 22q13.1 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.59 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"other","prevalence":[]},{"id":"sstr4","kind":"target","name":"SSTR4","aka":["somatostatin receptor 4","Somatostatin receptor type 4"],"tldr":"SSTR4 (Somatostatin receptor type 4) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours.","summary":"Receptor for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. It is functionally coupled not only to inhibition of adenylate cyclase, but also to activation of both arachidonate release and mitogen-activated protein (MAP) kinase cascade.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.59, clinical 0.90).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11333","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11333"},{"label":"UniProt P31391","url":"https://www.uniprot.org/uniprotkb/P31391/entry"},{"label":"NCBI Gene 6754","url":"https://www.ncbi.nlm.nih.gov/gene/6754"},{"label":"Ensembl ENSG00000132671","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132671"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SSTR4","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11333","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11333","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31391","url":"https://www.uniprot.org/uniprotkb/P31391/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000132671","url":"https://platform.opentargets.org/target/ENSG00000132671/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.59 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA not detected, which says where the protein sits but not whether the tumour differs from normal tissue. HPA SSTR4: RNA not detected; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); Open Targets associates it with 1 specific cancer type at or above 0.5 (carcinoid tumor). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas SSTR4 tissue","url":"https://www.proteinatlas.org/ENSG00000132671-SSTR4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000132671 associations","url":"https://platform.opentargets.org/target/ENSG00000132671/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11333","ensembl":"ENSG00000132671","uniprot":"P31391","entrez":"6754","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xu et al, Biochem. Biophys. Res. Commun, 1993, \"Molecular cloning and sequencing of a human somatostatin receptor, hSSTR4\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8512564/","biology":"Receptor for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. It is functionally coupled not only to inhibition of adenylate cyclase, but also to activation of both arachidonate release and mitogen-activated protein (MAP) kinase cascade. Mediates antiproliferative action of somatostatin in tumour cells. Location: Cell membrane (UniProt). Locus 20p11.21 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.59 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"other","prevalence":[]},{"id":"sstr5","kind":"target","name":"SSTR5","aka":["somatostatin receptor 5","Somatostatin receptor type 5"],"tldr":"SSTR5 (Somatostatin receptor type 5) is a gene. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours.","summary":"Receptor for somatostatin 28 and to a lesser extent for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Increases cell growth inhibition activity of SSTR2 following heterodimerisation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Pasireotide. Open Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.81, genetic association 0.00, clinical 0.91). In OnCo, 1 product record names it (Pasireotide).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11334","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11334"},{"label":"UniProt P35346","url":"https://www.uniprot.org/uniprotkb/P35346/entry"},{"label":"NCBI Gene 6755","url":"https://www.ncbi.nlm.nih.gov/gene/6755"},{"label":"Ensembl ENSG00000162009","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162009"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":["pasireotide"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SSTR5","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11334","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11334","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35346","url":"https://www.uniprot.org/uniprotkb/P35346/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SSTR5","url":"https://civicdb.org/features/5499","note":"1 evidence items, 0 assertions, 2 variants; diseases: Neuroendocrine Tumour (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000162009","url":"https://platform.opentargets.org/target/ENSG00000162009/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.60 (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal adrenal gland, blood vessel, heart muscle, kidney, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA SSTR5: RNA tissue enhanced (adrenal gland 2 nTPM, blood vessel 3 nTPM, heart muscle 2 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); approvals of single-target medicines aimed at it also list Brain and spinal cord tumours (all types), not counted; Open Targets associates it with 1 specific cancer type at or above 0.5 (carcinoid tumor). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SSTR5 tissue","url":"https://www.proteinatlas.org/ENSG00000162009-SSTR5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas SSTR5 pathology","url":"https://www.proteinatlas.org/ENSG00000162009-SSTR5/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000162009 associations","url":"https://platform.opentargets.org/target/ENSG00000162009/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11334","ensembl":"ENSG00000162009","uniprot":"P35346","entrez":"6755","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamada et al, Biochem. Biophys. Res. Commun, 1993, \"Cloning, functional expression and pharmacological characterization of a fourth (hSSTR4) and a fifth (hSSTR5) human somatostatin receptor subtype\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8373420/","biology":"Receptor for somatostatin 28 and to a lesser extent for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Increases cell growth inhibition activity of SSTR2 following heterodimerisation. Location: Cell membrane (UniProt). Locus 16p13.3 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.60 with neuroendocrine neoplasm (MONDO_0019496); CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ssx1","kind":"target","name":"SSX1","aka":["SSX family member 1","CT5.1"],"tldr":"SSX1 (SSX family member 1) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas and Synovial sarcoma.","summary":"Could act as a modulator of transcription. Plays a role in spermatogenesis.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.70, genetic association 0.56, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11335","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11335"},{"label":"UniProt Q16384","url":"https://www.uniprot.org/uniprotkb/Q16384/entry"},{"label":"NCBI Gene 6756","url":"https://www.ncbi.nlm.nih.gov/gene/6756"},{"label":"Ensembl ENSG00000126752","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126752"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","synovial-sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SSX1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11335","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11335","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16384","url":"https://www.uniprot.org/uniprotkb/Q16384/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000126752","url":"https://platform.opentargets.org/target/ENSG00000126752/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: sarcoma 0.68, synovial sarcoma 0.60 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11335","ensembl":"ENSG00000126752","uniprot":"Q16384","entrez":"6756","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Crew A.J. et al, EMBO J, 1995, \"Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel-associated box in human synovial sarcoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7539744/","biology":"Could act as a modulator of transcription. Plays a role in spermatogenesis. Location: Cytoplasm, cytoskeleton, flagellum axoneme (UniProt). Locus Xp11.23 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.68 with sarcoma (MONDO_0005089)","Synovial sarcoma: Open Targets association 0.60 with synovial sarcoma (MONDO_0010434)"],"targetClass":"transcription","prevalence":[]},{"id":"ssx2","kind":"target","name":"SSX2","aka":["SSX family member 2","HOM-MEL-40","HD21","MGC3884","MGC15364","MGC119055","CT5.2a"],"tldr":"SSX2 (SSX family member 2) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas and Synovial sarcoma.","summary":"Could act as a modulator of transcription.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.95, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11336","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11336"},{"label":"UniProt Q16385","url":"https://www.uniprot.org/uniprotkb/Q16385/entry"},{"label":"NCBI Gene 6757","url":"https://www.ncbi.nlm.nih.gov/gene/6757"},{"label":"Ensembl ENSG00000241476","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000241476"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","synovial-sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["hd21"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SSX2","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11336","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11336","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16385","url":"https://www.uniprot.org/uniprotkb/Q16385/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000241476","url":"https://platform.opentargets.org/target/ENSG00000241476/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: sarcoma 0.61, synovial sarcoma 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11336","ensembl":"ENSG00000241476","uniprot":"Q16385","entrez":"6757","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Clark et al, Nat. Genet, 1994, \"Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7951320/","biology":"Could act as a modulator of transcription. Location: Nucleus (UniProt). Locus Xp11.22 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.61 with sarcoma (MONDO_0005089)","Synovial sarcoma: Open Targets association 0.53 with synovial sarcoma (MONDO_0010434)"],"targetClass":"transcription","prevalence":[]},{"id":"stag2","kind":"target","name":"STAG2","aka":["STAG2 cohesin complex component","Cohesin subunit SA-2","SA-2","SCC3B","SA2"],"tldr":"STAG2 (Cohesin subunit SA-2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Sarcomas, Renal cell carcinoma and 5 more.","summary":"Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate.\n\nCIViC holds 6 clinical evidence items and 0 assertions across 3 variants, naming Vemurafenib. Open Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.97). IntOGen calls it a driver in 19 cohorts (0 activating, 19 loss-of-function), covering Acute Myeloid Leukaemia, Bladder Urothelial Carcinoma, Renal Clear Cell Carcinoma, Ewing Sarcoma, Glioblastoma Multiforme, Lung Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11355","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11355"},{"label":"UniProt Q8N3U4","url":"https://www.uniprot.org/uniprotkb/Q8N3U4/entry"},{"label":"NCBI Gene 10735","url":"https://www.ncbi.nlm.nih.gov/gene/10735"},{"label":"Ensembl ENSG00000101972","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101972"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","sarcoma","rcc","endometrial","thyroid","breast-cancer","leukaemia","myeloproliferative-neoplasms"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it a loss-of-function (LoF) driver in 19 cohorts; CIViC holds 6 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Ewing Sarcoma Of Bone; Bladder Urothelial Papillary Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STAG2","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11355","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11355","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8N3U4","url":"https://www.uniprot.org/uniprotkb/Q8N3U4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STAG2","url":"https://civicdb.org/features/8553","note":"6 evidence items, 0 assertions, 3 variants; diseases: Acute Myeloid Leukaemia, Melanoma, Bladder Carcinoma, Ewing Sarcoma Of Bone, Bladder Urothelial Papillary Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000101972","url":"https://platform.opentargets.org/target/ENSG00000101972/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: urinary bladder cancer 0.66, endometrial cancer 0.52, sarcoma 0.62, skin cancer 0.51, myeloproliferative neoplasm 0.53, Ewing sarcoma 0.52 (GraphQL API, CC0)"},{"label":"IntOGen STAG2","url":"https://www.intogen.org/search?gene=STAG2","note":"driver in 19 cohorts (Act 0, LoF 19); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA STAG2: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Sarcomas (soft tissue, bone, GIST), Renal cell carcinoma, Endometrial cancer, Thyroid cancer, Breast cancer (all types), Leukaemia and more); Open Targets associates it with 2 specific cancer types at or above 0.5 (urinary bladder cancer, Ewing sarcoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q8N3U4","url":"https://www.uniprot.org/uniprotkb/Q8N3U4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STAG2","url":"https://civicdb.org/features/8553","note":"6 evidence items, 0 assertions, 3 variants; diseases: Acute Myeloid Leukaemia, Melanoma, Bladder Carcinoma, Ewing Sarcoma Of Bone, Bladder Urothelial Papillary Carcinoma (GraphQL API, CC0)"},{"label":"IntOGen STAG2","url":"https://www.intogen.org/search?gene=STAG2","note":"driver in 19 cohorts (Act 0, LoF 19); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas STAG2 tissue","url":"https://www.proteinatlas.org/ENSG00000101972-STAG2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000101972 associations","url":"https://platform.opentargets.org/target/ENSG00000101972/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11355","ensembl":"ENSG00000101972","uniprot":"Q8N3U4","entrez":"10735","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Carramolino et al, Gene, 1997, \"SA-1, a nuclear protein encoded by one member of a novel gene family: molecular cloning and detection in hemopoietic organs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9305759/","biology":"Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Location: Nucleus; Chromosome; Chromosome, centromere (UniProt). Locus Xq25 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.66 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease","Sarcomas: Open Targets association 0.62 with sarcoma (MONDO_0005089)","Renal cell carcinoma: IntOGen driver in 2 cohorts (CCRCC, PRCC)","Endometrial cancer: Open Targets association 0.52 with endometrial cancer (MONDO_0011962); IntOGen driver in 1 cohort (UCEC)","Thyroid cancer: IntOGen driver in 1 cohort (WDTC)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"stag2-as1","kind":"target","name":"STAG2-AS1","aka":["STAG2 antisense RNA 1"],"tldr":"STAG2-AS1 (STAG2 antisense RNA 1) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Acute myeloid leukaemia.","summary":"UniProt has no function text for this gene; HGNC names it \"STAG2 antisense RNA 1\".\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:55727","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:55727"},{"label":"NCBI Gene 101928402","url":"https://www.ncbi.nlm.nih.gov/gene/101928402"},{"label":"Ensembl ENSG00000232412","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000232412"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STAG2-AS1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:55727","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:55727","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"CIViC gene STAG2-AS1","url":"https://civicdb.org/features/42616","note":"1 evidence items, 0 assertions, 1 variants; diseases: Acute Myeloid Leukaemia (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: the Human Protein Atlas has no row for STAG2-AS1 and no corpus medicine is aimed at it. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Open Targets ENSG00000232412 associations","url":"https://platform.opentargets.org/target/ENSG00000232412/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:55727","ensembl":"ENSG00000232412","entrez":"101928402","biology":"UniProt has no function text for this gene; HGNC names it \"STAG2 antisense RNA 1\". Locus Xq25 (HGNC).","whereFound":["Acute myeloid leukaemia: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"stag3","kind":"target","name":"STAG3","aka":["STAG3 cohesin complex component","Cohesin subunit SA-3","SA3"],"tldr":"STAG3 (Cohesin subunit SA-3) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Vemurafenib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11356","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11356"},{"label":"UniProt Q9UJ98","url":"https://www.uniprot.org/uniprotkb/Q9UJ98/entry"},{"label":"NCBI Gene 10734","url":"https://www.ncbi.nlm.nih.gov/gene/10734"},{"label":"Ensembl ENSG00000066923","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000066923"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STAG3","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11356","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11356","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UJ98","url":"https://www.uniprot.org/uniprotkb/Q9UJ98/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STAG3","url":"https://civicdb.org/features/8552","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA STAG3: RNA tissue enriched (testis 50 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas STAG3 tissue","url":"https://www.proteinatlas.org/ENSG00000066923-STAG3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000066923 associations","url":"https://platform.opentargets.org/target/ENSG00000066923/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11356","ensembl":"ENSG00000066923","uniprot":"Q9UJ98","entrez":"10734","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pezzi et al, FASEB J, 2000, \"STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams-Beuren syndrome deletion\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10698974/","biology":"Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I. Location: Nucleus; Chromosome; Chromosome, centromere (UniProt). Locus 7q22.1 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"stard3","kind":"target","name":"STARD3","aka":["StAR related lipid transfer domain containing 3","MLN64","es64"],"tldr":"STARD3 (MLN64) moves cholesterol between cell compartments and is co-amplified with HER2 in breast cancer.","summary":"17q12 HER2 amplicon neighbour: co-amplified and co-expressed with ERBB2 in HER2-positive breast and gastric cancer, so it appears in HER2-enriched expression signatures as a passenger of the amplification rather than a driver of its own. UniProt describes STARD3 as a sterol-binding protein that transports cholesterol from the endoplasmic reticulum to endosomes; it was first cloned as MLN64 from a breast cancer amplicon.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:17579","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17579"},{"label":"UniProt Q14849","url":"https://www.uniprot.org/uniprotkb/Q14849/entry"}],"tags":["cansim-terms"],"related":["her2"],"cancers":["breast-cancer","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["co-amplification","cancer-ai-vocabulary"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Named in the CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme."],"provenance":{"editedBy":"OnCo CanSim terms wave (HGNC REST, UniProt REST)","editedOn":"2026-09-24","note":"CanSim terms map 1.0.0 (docs/onco/terms.json, generated 2026-09-24), CC BY 4.0, attribution: CanSim project, an open, public-data-first cancer foundation-model programme"},"symbol":"STARD3","role":["biomarker"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17579","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17579","note":"approved symbol, name, aliases, locus and cross-references (REST API, 2026-09-24)"},{"label":"UniProt Q14849","url":"https://www.uniprot.org/uniprotkb/Q14849/entry","note":"protein name, function and tissue specificity text (REST API, 2026-09-24)"}],"specificitySources":[],"hgnc":"HGNC:17579","ensembl":"ENSG00000131748","uniprot":"Q14849","entrez":"10948","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tomasetto C.L. et al, Genomics, 1995, \"Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7490069/","biology":"Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (UniProt Q14849).","whereFound":["Locus 17q12 (HGNC)."],"targetClass":"enzyme","prevalence":[]},{"id":"stat1","kind":"target","name":"STAT1","aka":["signal transducer and activator of transcription 1","Signal transducer and activator of transcription 1-alpha/beta","STAT91","ISGF-3"],"tldr":"STAT1 (Signal transducer and activator of transcription 1-alpha/beta) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer and Melanoma.","summary":"Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signalling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerise and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Cisplatin and Picoplatin. Open Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.87, animal model 0.54, genetic association 0.03).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11362","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11362"},{"label":"UniProt P42224","url":"https://www.uniprot.org/uniprotkb/P42224/entry"},{"label":"NCBI Gene 6772","url":"https://www.ncbi.nlm.nih.gov/gene/6772"},{"label":"Ensembl ENSG00000115415","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115415"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["ovarian","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["antigen-presentation-immunoediting","jak-stat"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STAT1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11362","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11362","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42224","url":"https://www.uniprot.org/uniprotkb/P42224/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STAT1","url":"https://civicdb.org/features/5514","note":"2 evidence items, 0 assertions, 2 variants; diseases: Melanoma, Ovarian Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000115415","url":"https://platform.opentargets.org/target/ENSG00000115415/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA STAT1: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining testis cancer (5 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas STAT1 tissue","url":"https://www.proteinatlas.org/ENSG00000115415-STAT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115415 associations","url":"https://platform.opentargets.org/target/ENSG00000115415/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11362","ensembl":"ENSG00000115415","uniprot":"P42224","entrez":"6772","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schindler et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Proteins of transcription factor ISGF-3: one gene encodes the 91- and 84-kDa ISGF-3 proteins that are activated by interferon alpha\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1502203/","biology":"Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors. Following type I IFN (IFN-alpha and IFN-beta) binding to cell surface receptors, signalling via protein kinases leads to activation of Jak kinases (TYK2 and JAK1) and to tyrosine phosphorylation of STAT1 and STAT2. The phosphorylated STATs dimerise and associate with ISGF3G/IRF-9 to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of IFN-stimulated genes (ISG), which drive the cell in an antiviral state. In response to type II IFN (IFN-gamma), STAT1 is tyrosine- and serine-phosphorylated. It then forms a homodimer termed IFN-gamma-activated factor (GAF), migrates into the nucleus and binds to the IFN gamma activated sequence (GAS) to drive the expression of the target genes, inducing a cellular antiviral state. Location: Cytoplasm; Nucleus (UniProt). Locus 2q32.2 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease","Melanoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"stat3","kind":"target","name":"STAT3","aka":["signal transducer and activator of transcription 3","Signal transducer and activator of transcription 3"],"tldr":"STAT3 (Signal transducer and activator of transcription 3) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Skin cancer and 5 more.","summary":"Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors. Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 4 variants. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes clinical 0.19, affected pathway 0.84, literature 1.00, genetic association 0.15, somatic mutation 0.97). IntOGen calls it a driver in 7 cohorts (7 activating, 0 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Lymphoid Neoplasm, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11364","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11364"},{"label":"UniProt P40763","url":"https://www.uniprot.org/uniprotkb/P40763/entry"},{"label":"NCBI Gene 6774","url":"https://www.ncbi.nlm.nih.gov/gene/6774"},{"label":"Ensembl ENSG00000168610","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000168610"},{"label":"Kucuk et al., Nat Commun 2015: activating STAT3 and STAT5B mutations in lymphomas derived from NK or gamma-delta T cells","url":"https://doi.org/10.1038/ncomms7025"},{"label":"Green et al., Blood 2010: selective 9p24.1 amplification and PD-1 ligand induction through JAK2 in Hodgkin lymphoma and mediastinal large B-cell lymphoma","url":"https://doi.org/10.1182/blood-2010-05-282780"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","skin-cancer","lung-cancer","ovarian","biliary-tract-cancer","dlbcl","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["inflammation-nfkb","jak-stat","nsclc-signalling","rtk-activation"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.19; IntOGen calls it an activating (Act) driver in 7 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: T-cell Large Granular Lymphocyte Leukaemia.","Lymphoma, JAK-STAT, in NK/T-cell lymphoma and in Hodgkin lymphoma: STAT3 and STAT5B mutations lock the transcription factor in its phosphorylated form. The STAT5B N642H substitution increases the binding affinity of the phosphotyrosine for the mutant histidine, so the phosphorylated protein persists and binds its target sites far more, and the growth advantage it gives can be partly reversed by a JAK1/2 inhibitor in the laboratory (Kucuk 2015). In Hodgkin lymphoma and primary mediastinal B-cell lymphoma the pathway is switched on from the other end, by amplification of JAK2 inside the 9p24.1 amplicon and by loss of the brakes SOCS1 and PTPN1. Frequency: Activating STAT3 and STAT5B mutations across 51 NK/T-cell lymphomas and 43 gamma-delta T-cell lymphomas, with STAT5B N642H particularly frequent in the gamma-delta group (Kucuk 2015). JAK2 sits in the 9p24.1 amplicon in Hodgkin lymphoma and mediastinal large B-cell lymphoma, and its amplification raises both protein and activity and specifically induces PD-1 ligand transcription (Green 2010). What it changes about treatment: Not through an approved drug. JAK inhibitors have been tested in both settings without becoming standard; the practical consequence of the Hodgkin and mediastinal finding is that it explains why checkpoint blockade works there."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STAT3","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11364","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11364","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P40763","url":"https://www.uniprot.org/uniprotkb/P40763/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STAT3","url":"https://civicdb.org/features/5516","note":"2 evidence items, 0 assertions, 4 variants; diseases: Diffuse Large B-cell Lymphoma, T-cell Large Granular Lymphocyte Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000168610","url":"https://platform.opentargets.org/target/ENSG00000168610/associations","note":"association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: ovarian cancer 0.52, acute lymphoblastic leukaemia 0.51, diffuse large B-cell lymphoma 0.54, non-Hodgkin lymphoma 0.75, skin cancer 0.57, lung cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen STAT3","url":"https://www.intogen.org/search?gene=STAT3","note":"driver in 7 cohorts (Act 7, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"immune-microenvironment","distribution":"many-types","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA STAT3: RNA low tissue specificity; high antibody staining in 2 normal tissues. Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Skin cancer (all types), Lung cancer (all types), Ovarian cancer, Biliary tract cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (STAT3-related early-onset multisystem autoimmune disease). (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas STAT3 tissue","url":"https://www.proteinatlas.org/ENSG00000168610-STAT3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt P40763","url":"https://www.uniprot.org/uniprotkb/P40763/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000168610 associations","url":"https://platform.opentargets.org/target/ENSG00000168610/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11364","ensembl":"ENSG00000168610","uniprot":"P40763","entrez":"6774","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Akira et al, Cell, 1994, \"Molecular cloning of APRF, a novel IFN-stimulated gene factor 3 p91-related transcription factor involved in the gp130-mediated signaling pathway\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7512451/","biology":"Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors. Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Upon activation of IL6ST/gp130 signalling by interleukin-6 (IL6), binds to the IL6-responsive elements identified in the promoters of various acute-phase protein genes. Activated by IL31 through IL31RA. Acts as a regulator of inflammatory response by regulating differentiation of naive CD4(+) T-cells into T-helper Th17 or regulatory T-cells (Treg): acetylation promotes its transcription activity and cell differentiation while deacetylation and oxidation of lysine residues by LOXL3 inhibits differentiation. Location: Cytoplasm; Nucleus (UniProt). Locus 17q21.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.75 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 3 cohorts (LNM, MLYM, NHL)","Leukaemia: Open Targets association 0.68 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.57 with lung cancer (MONDO_0008903)","Ovarian cancer: Open Targets association 0.52 with ovarian cancer (MONDO_0008170)","Biliary tract cancer: Open Targets association 0.51 with biliary tract cancer (MONDO_0003060)"],"targetClass":"oncogene","prevalence":[]},{"id":"stat5","kind":"target","name":"STAT5 (STAT5A, STAT5B)","aka":["STAT5A","STAT5B","signal transducer and activator of transcription 5"],"tldr":"STAT5 is the messenger that carries growth signals from FLT3, JAK2 and BCR::ABL1 into the nucleus and switches on survival genes in leukaemia cells. No drug hits STAT5 directly yet; the FLT3 and ABL inhibitors work by cutting off the signal above it.","summary":"STAT5A and STAT5B (both on chromosome 17q21.2) are transcription factors with a dual role in signal transduction and transcription: they bind GAS elements and activate prolactin-induced transcription; STAT5A mediates responses to KIT ligand, other growth factors, ERBB4 and possibly activated FGFRs, and STAT5B mediates responses to cytokines, hormones and growth factors including oncostatin M and positively regulates haematopoietic and erythroid differentiation (UniProt P42229, P51692). In OnCo, STAT5 is the downstream node that collapses when gilteritinib, midostaurin and quizartinib block FLT3-ITD and TKD signalling in AML and when ponatinib blocks BCR::ABL1 in Ph-positive leukaemia; the MPL record places it among the proteins docked by the activated thrombopoietin receptor.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:11366 (STAT5A)","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11366"},{"label":"HGNC HGNC:11367 (STAT5B)","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11367"},{"label":"UniProt P42229 (STAT5A)","url":"https://www.uniprot.org/uniprotkb/P42229/entry"},{"label":"UniProt P51692 (STAT5B)","url":"https://www.uniprot.org/uniprotkb/P51692/entry"},{"label":"NCBI Gene 6776 (STAT5A)","url":"https://www.ncbi.nlm.nih.gov/gene/6776"},{"label":"NCBI Gene 6777 (STAT5B)","url":"https://www.ncbi.nlm.nih.gov/gene/6777"},{"label":"Kucuk et al., Nat Commun 2015: activating STAT3 and STAT5B mutations in lymphomas derived from NK or gamma-delta T cells","url":"https://doi.org/10.1038/ncomms7025"},{"label":"Green et al., Blood 2010: selective 9p24.1 amplification and PD-1 ligand induction through JAK2 in Hodgkin lymphoma and mediastinal large B-cell lymphoma","url":"https://doi.org/10.1182/blood-2010-05-282780"}],"tags":["wave5-target"],"related":["gilteritinib","midostaurin","quizartinib","ponatinib","flt3","bcr-abl","jak2","mpl"],"cancers":["aml","aml-flt3","all-leukemia","cml-advanced-phase","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["jak-stat","aml-signalling","cml-signalling","bcr-abl1-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted.","Two genes, so no single HGNC id on the record (the rule in scripts/enrich-target-ids.ts); both are cross-referenced in target-xrefs.ts.","Lymphoma, JAK-STAT, in NK/T-cell lymphoma and in Hodgkin lymphoma: STAT3 and STAT5B mutations lock the transcription factor in its phosphorylated form. The STAT5B N642H substitution increases the binding affinity of the phosphotyrosine for the mutant histidine, so the phosphorylated protein persists and binds its target sites far more, and the growth advantage it gives can be partly reversed by a JAK1/2 inhibitor in the laboratory (Kucuk 2015). In Hodgkin lymphoma and primary mediastinal B-cell lymphoma the pathway is switched on from the other end, by amplification of JAK2 inside the 9p24.1 amplicon and by loss of the brakes SOCS1 and PTPN1. Frequency: Activating STAT3 and STAT5B mutations across 51 NK/T-cell lymphomas and 43 gamma-delta T-cell lymphomas, with STAT5B N642H particularly frequent in the gamma-delta group (Kucuk 2015). JAK2 sits in the 9p24.1 amplicon in Hodgkin lymphoma and mediastinal large B-cell lymphoma, and its amplification raises both protein and activity and specifically induces PD-1 ligand transcription (Green 2010). What it changes about treatment: Not through an approved drug. JAK inhibitors have been tested in both settings without becoming standard; the practical consequence of the Hodgkin and mediastinal finding is that it explains why checkpoint blockade works there."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"STAT5A, STAT5B","role":[],"sources":[],"specificitySources":[],"biology":"The JAK-STAT pathway record lists STAT5 as the STAT of leukaemias, alongside STAT3 as the hub of IL-6-driven survival. Constitutive STAT5 signalling is the readout of FLT3, JAK2, MPL and BCR::ABL1 activity in the corpus mechanism steps, and no direct STAT5 inhibitor is recorded.","whereFound":["FLT3-mutant AML (downstream of FLT3-ITD/TKD)","Ph-positive CML and ALL (downstream of BCR::ABL1)","Myeloproliferative neoplasms (downstream of JAK2 and MPL)"],"targetClass":"transcription","prevalence":[]},{"id":"stat6","kind":"target","name":"STAT6","aka":["signal transducer and activator of transcription 6","Signal transducer and activator of transcription 6","D12S1644","IL-4-STAT"],"tldr":"STAT6 (Signal transducer and activator of transcription 6) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma and Diffuse large B-cell lymphoma.","summary":"Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signalling.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.98, animal model 0.31, genetic association 0.08, somatic mutation 0.89). IntOGen calls it a driver in 4 cohorts (4 activating, 0 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11368","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11368"},{"label":"UniProt P42226","url":"https://www.uniprot.org/uniprotkb/P42226/entry"},{"label":"NCBI Gene 6778","url":"https://www.ncbi.nlm.nih.gov/gene/6778"},{"label":"Ensembl ENSG00000166888","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166888"},{"label":"Kucuk et al., Nat Commun 2015: activating STAT3 and STAT5B mutations in lymphomas derived from NK or gamma-delta T cells","url":"https://doi.org/10.1038/ncomms7025"},{"label":"Green et al., Blood 2010: selective 9p24.1 amplification and PD-1 ligand induction through JAK2 in Hodgkin lymphoma and mediastinal large B-cell lymphoma","url":"https://doi.org/10.1182/blood-2010-05-282780"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["jak-stat"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, JAK-STAT, in NK/T-cell lymphoma and in Hodgkin lymphoma: STAT3 and STAT5B mutations lock the transcription factor in its phosphorylated form. The STAT5B N642H substitution increases the binding affinity of the phosphotyrosine for the mutant histidine, so the phosphorylated protein persists and binds its target sites far more, and the growth advantage it gives can be partly reversed by a JAK1/2 inhibitor in the laboratory (Kucuk 2015). In Hodgkin lymphoma and primary mediastinal B-cell lymphoma the pathway is switched on from the other end, by amplification of JAK2 inside the 9p24.1 amplicon and by loss of the brakes SOCS1 and PTPN1. Frequency: Activating STAT3 and STAT5B mutations across 51 NK/T-cell lymphomas and 43 gamma-delta T-cell lymphomas, with STAT5B N642H particularly frequent in the gamma-delta group (Kucuk 2015). JAK2 sits in the 9p24.1 amplicon in Hodgkin lymphoma and mediastinal large B-cell lymphoma, and its amplification raises both protein and activity and specifically induces PD-1 ligand transcription (Green 2010). What it changes about treatment: Not through an approved drug. JAK inhibitors have been tested in both settings without becoming standard; the practical consequence of the Hodgkin and mediastinal finding is that it explains why checkpoint blockade works there."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STAT6","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11368","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11368","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42226","url":"https://www.uniprot.org/uniprotkb/P42226/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STAT6","url":"https://civicdb.org/features/5520","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000166888","url":"https://platform.opentargets.org/target/ENSG00000166888/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.51, non-Hodgkin lymphoma 0.65 (GraphQL API, CC0)"},{"label":"IntOGen STAT6","url":"https://www.intogen.org/search?gene=STAT6","note":"driver in 4 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA STAT6: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining thyroid cancer (3 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P42226","url":"https://www.uniprot.org/uniprotkb/P42226/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STAT6","url":"https://civicdb.org/features/5520","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen STAT6","url":"https://www.intogen.org/search?gene=STAT6","note":"driver in 4 cohorts (Act 4, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas STAT6 tissue","url":"https://www.proteinatlas.org/ENSG00000166888-STAT6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000166888 associations","url":"https://platform.opentargets.org/target/ENSG00000166888/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11368","ensembl":"ENSG00000166888","uniprot":"P42226","entrez":"6778","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hou et al, Science, 1994, \"An interleukin-4-induced transcription factor: IL-4 Stat\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8085155/","biology":"Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signalling. Location: Cytoplasm; Nucleus (UniProt). Locus 12q13.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.65 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Diffuse large B-cell lymphoma: Open Targets association 0.51 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},{"id":"steap1","kind":"target","name":"STEAP1","aka":[],"tldr":"STEAP1 is a protein on the surface of most prostate cancer cells, now the address for a T-cell engager in phase 3.","summary":"Six-transmembrane epithelial antigen of the prostate 1 is expressed in most prostate cancers including PSMA-low and neuroendocrine-like disease, with limited normal expression. Xaluritamig (STEAP1×CD3 XmAb 2+1) produced PSA50 in ~half of heavily pretreated mCRPC patients at target doses in phase 1 and is in two phase 3 trials (XALute post-taxane; XALience with abiraterone chemo-naive). Also an ADC target historically (vandortuzumab vedotin, discontinued).","asOf":"2026-09-06","wikipedia":"https://en.wikipedia.org/wiki/STEAP1","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/STEAP1"}],"tags":["t-cell-engager-target"],"related":[],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":["xaluritamig"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: no peer-reviewed STEAP1 expression series with a stated denominator was found for prostate cancer; the widely repeated '>80%' figure could not be traced to a series with an n, so it has been removed."],"symbol":"STEAP1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (Xaluritamig) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA STEAP1: RNA tissue enhanced (prostate 79 nTPM); no normal tissue stained high; highest cancer staining lung cancer (1 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas STEAP1 tissue","url":"https://www.proteinatlas.org/ENSG00000164647-STEAP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas STEAP1 pathology","url":"https://www.proteinatlas.org/ENSG00000164647-STEAP1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164647 associations","url":"https://platform.opentargets.org/target/ENSG00000164647/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11378","ensembl":"ENSG00000164647","uniprot":"Q9UHE8","entrez":"26872","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hubert R.S. et al, Proc. Natl. Acad. Sci. U.S.A, 1999, \"STEAP: a prostate-specific cell-surface antigen highly expressed in human prostate tumors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10588738/","biology":"STEAP1 is a metalloreductase at cell junctions, upregulated by androgen receptor signalling; its expression is partly independent of PSMA, making it complementary.","whereFound":["Prostate cancer (most cases)","Ewing sarcoma","Bladder (subset)"],"targetClass":"surface-antigen","prevalence":[]},{"id":"stil","kind":"target","name":"STIL","aka":["STIL centriolar assembly protein","SCL-interrupting locus protein","MCPH7"],"tldr":"STIL (SCL-interrupting locus protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Non-Hodgkin lymphoma, Skin cancer and Leukaemia.","summary":"Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.90).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10879","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10879"},{"label":"UniProt Q15468","url":"https://www.uniprot.org/uniprotkb/Q15468/entry"},{"label":"NCBI Gene 6491","url":"https://www.ncbi.nlm.nih.gov/gene/6491"},{"label":"Ensembl ENSG00000123473","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123473"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["non-hodgkin-lymphoma","skin-cancer","leukaemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STIL","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:10879","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10879","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15468","url":"https://www.uniprot.org/uniprotkb/Q15468/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000123473","url":"https://platform.opentargets.org/target/ENSG00000123473/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.55, skin cancer 0.52, leukaemia 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:10879","ensembl":"ENSG00000123473","uniprot":"Q15468","entrez":"6491","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Aplan P.D. et al, Mol. Cell. Biol, 1991, \"Structural characterization of SIL, a gene frequently disrupted in T-cell acute lymphoblastic leukemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1922059/","biology":"Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1. Plays an important role in the regulation of centriole duplication. Required for the onset of procentriole formation and proper mitotic progression. During procentriole formation, is essential for the correct loading of SASS6 and CPAP to the base of the procentriole to initiate procentriole assembly. Location: Cytoplasm, cytosol; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole; Cytoplasm, cell cortex (UniProt). Locus 1p33 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.51 with leukaemia (MONDO_0005059)"],"targetClass":"other","prevalence":[]},{"id":"stk11","kind":"target","name":"STK11","aka":["serine/threonine kinase 11","Serine/threonine-protein kinase STK11","LKB1"],"tldr":"STK11 is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Tumour suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non-AMPK family proteins such as STRADA, PTEN and possibly p53/TP53.\n\nCIViC holds 23 clinical evidence items and 0 assertions across 8 variants, naming Sirolimus, MEK Inhibitor CI-1040, Everolimus and Cisplatin/Pembrolizumab/Pemetrexed Regimen and others. Open Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes genetic literature 0.75, affected pathway 0.96, literature 1.00, genetic association 0.72, somatic mutation 0.96, animal model 0.77). IntOGen calls it a driver in 14 cohorts (3 activating, 11 loss-of-function), covering Anal Squamous Cell Carcinoma, Cervical Adenocarcinoma, Cervical Squamous Cell Carcinoma, Cholangiocarcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11389","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11389"},{"label":"UniProt Q15831","url":"https://www.uniprot.org/uniprotkb/Q15831/entry"},{"label":"NCBI Gene 6794","url":"https://www.ncbi.nlm.nih.gov/gene/6794"},{"label":"Ensembl ENSG00000118046","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118046"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen","stk11-keap1-loss"],"cancers":["lung-cancer","ovarian","cervical","breast-cancer","prostate","pancreatic","anal","thyroid","gallbladder","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["keap1-nrf2","lipid-metabolism-cancer"],"terms":["stk11-keap1"],"trials":["nct05276726","nct05445843","nct05887492","nct06008093"],"people":[],"bottlenecks":[],"keyPapers":["paper-pandey-gallbladder-elf3-nat-commun-2020","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-ricciuti-stk11-keap1-kras-immunotherapy-jto-2022","paper-kras-nsclc-cancer-discov-2018"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 17 therapies; IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 11 cohorts; CIViC holds 23 clinical evidence items on its variants; UniProt keyword \"DNA damage\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Peutz-Jeghers Syndrome.","Lung cancer: inactivated in 13 to 18% of adenocarcinomas, 22.1% of patients selected for PD-(L)1 blockade and only 1.0% of squamous tumours (cBioPortal). It makes the tumour immune-poor, with low PD-L1 and few infiltrating lymphocytes (Skoulidis 2015), and it predicts worse progression-free and overall survival on checkpoint blockade, with hazard ratios around 2, but only in KRAS-mutant tumours (Ricciuti 2022, Skoulidis 2018). In the randomised trials of pembrolizumab with and without chemotherapy, STK11 status did not change the benefit (Mok 2023, Garassino 2023), so it is prognostic information rather than a reason to withhold treatment."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STK11","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11389","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11389","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15831","url":"https://www.uniprot.org/uniprotkb/Q15831/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STK11","url":"https://civicdb.org/features/5534","note":"23 evidence items, 0 assertions, 8 variants; diseases: Lung Non-small Cell Carcinoma, Peutz-Jeghers Syndrome, Breast Cancer, Lung Adenocarcinoma, Prostate Cancer and 2 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000118046","url":"https://platform.opentargets.org/target/ENSG00000118046/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.74, colorectal cancer 0.53, gastric cancer 0.53, ovarian cancer 0.64, cervical cancer 0.61, melanoma 0.63 (GraphQL API, CC0)"},{"label":"IntOGen STK11","url":"https://www.intogen.org/search?gene=STK11","note":"driver in 14 cohorts (Act 3, LoF 11); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA STK11: RNA low tissue specificity; high antibody staining in 1 normal tissue. Distribution: 9 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Biliary tract cancer (all types), Lung cancer (all types), Ovarian cancer, Cervical cancer, Breast cancer (all types), Prostate cancer, Pancreatic ductal adenocarcinoma and more); Open Targets associates it with 7 specific cancer types at or above 0.5 (Peutz-Jeghers syndrome, familial pancreatic carcinoma, lung adenocarcinoma, melanoma, cutaneous malignant, susceptibility to, 1, testicular germ cell tumor, hereditary neoplastic syndrome and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q15831","url":"https://www.uniprot.org/uniprotkb/Q15831/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STK11","url":"https://civicdb.org/features/5534","note":"23 evidence items, 0 assertions, 8 variants; diseases: Lung Non-small Cell Carcinoma, Peutz-Jeghers Syndrome, Breast Cancer, Lung Adenocarcinoma, Prostate Cancer and 2 more (GraphQL API, CC0)"},{"label":"IntOGen STK11","url":"https://www.intogen.org/search?gene=STK11","note":"driver in 14 cohorts (Act 3, LoF 11); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas STK11 tissue","url":"https://www.proteinatlas.org/ENSG00000118046-STK11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118046 associations","url":"https://platform.opentargets.org/target/ENSG00000118046/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11389","ensembl":"ENSG00000118046","uniprot":"Q15831","entrez":"6794","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jenne D.E. et al, Nat. Genet, 1998, \"Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9425897/","biology":"Tumour suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non-AMPK family proteins such as STRADA, PTEN and possibly p53/TP53. Acts as a key upstream regulator of AMPK by mediating phosphorylation and activation of AMPK catalytic subunits PRKAA1 and PRKAA2 and thereby regulates processes including: inhibition of signalling pathways that promote cell growth and proliferation when energy levels are low, glucose homeostasis in liver, activation of autophagy when cells undergo nutrient deprivation, and B-cell differentiation in the germinal centre in response to DNA damage. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton. Required for cortical neuron polarisation by mediating phosphorylation and activation of BRSK1 and BRSK2, leading to axon initiation and specification. Location: Nucleus; Cytoplasm; Membrane; Mitochondrion (UniProt). Locus 19p13.3 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.75 with lung cancer (MONDO_0008903)","Ovarian cancer: Open Targets association 0.64 with ovarian cancer (MONDO_0008170)","Cervical cancer: Open Targets association 0.61 with cervical cancer (MONDO_0002974); IntOGen driver in 3 cohorts (CEAD, CESC)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Prostate cancer: CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Gallbladder cancer: mutation about 9%","Non-small-cell lung cancer: inactivating mutation 13-18%"],"targetClass":"kinase","prevalence":[{"cancerId":"gallbladder","pct":9,"measure":"Mutation","source":"https://www.cbioportal.org/study/summary?id=gbc_mskcc_2022","note":"Mutation in 22 of 244 samples, 9.0%, in cBioPortal gbc_mskcc_2022; a significantly mutated gene (Pandey 2020) independently associated with reduced survival in metastatic disease (Giraldo 2022)."},{"cancerId":"nsclc","pct":"13-18","measure":"Inactivating mutation","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal: 450 of 2,653, 17.0%, in luad_mskcc_2023_met_organotropism; 157 of 915, 17.2%, in lung_msk_2017; 75 of 566, 13.3%, in luad_tcga_pan_can_atlas_2018; 40 of 230, 17.4%, in luad_tcga_pub; 20 of 110, 18.2%, in luad_cptac_2020; 222 of 2,621, 8.5%, in nsclc_ctdx_msk_2022 (mixed histology); 11 of 302, 3.6%, in luad_oncosg_2020; 5 of 232, 2.2%, in lung_nci_2022. In the immunotherapy-treated cohort the rate is higher, 53 of 240, 22.1%, in nsclc_pd1_msk_2018 (cBioPortal); deleterious STK11 mutations were found in 260 of 1,261, 20.6%, of a two-centre lung adenocarcinoma cohort (Ricciuti 2022)."}]},{"id":"stmn1","kind":"target","name":"STMN1","aka":["stathmin 1","Stathmin","OP18","PR22","PP19","PP17","Lag","FLJ32206","LAP18","C1orf215"],"tldr":"STMN1 (Stathmin) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Endometrial cancer.","summary":"Involved in the regulation of the microtubule (MT) filament system by destabilising microtubules. Prevents assembly and promotes disassembly of microtubules. Phosphorylation at Ser-16 may be required for axon formation during neurogenesis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Paclitaxel.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:6510","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6510"},{"label":"UniProt P16949","url":"https://www.uniprot.org/uniprotkb/P16949/entry"},{"label":"NCBI Gene 3925","url":"https://www.ncbi.nlm.nih.gov/gene/3925"},{"label":"Ensembl ENSG00000117632","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000117632"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STMN1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:6510","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6510","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P16949","url":"https://www.uniprot.org/uniprotkb/P16949/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene STMN1","url":"https://civicdb.org/features/3255","note":"1 evidence items, 0 assertions, 1 variants; diseases: Endometrial Carcinoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA STMN1: RNA tissue enhanced (brain 1,367 nTPM, lymphoid tissue 1,250 nTPM); blood lineage group enriched (dendritic cells 425 nTPM, T-cells 144 nTPM); high antibody staining in 12 normal tissues; highest cancer staining testis cancer (9 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Endometrial cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas STMN1 tissue","url":"https://www.proteinatlas.org/ENSG00000117632-STMN1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000117632 associations","url":"https://platform.opentargets.org/target/ENSG00000117632/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:6510","ensembl":"ENSG00000117632","uniprot":"P16949","entrez":"3925","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhu X.-X. et al, J. Biol. Chem, 1989, \"Molecular cloning of a novel human leukemia-associated gene. Evidence of conservation in animal species\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2760073/","biology":"Involved in the regulation of the microtubule (MT) filament system by destabilising microtubules. Prevents assembly and promotes disassembly of microtubules. Phosphorylation at Ser-16 may be required for axon formation during neurogenesis. Involved in the control of the learned and innate fear. Location: Cytoplasm, cytoskeleton (UniProt). Locus 1p36.11 (HGNC).","whereFound":["Endometrial cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"stn1","kind":"target","name":"STN1","aka":["STN1 subunit of CST complex","CST complex subunit STN1","FLJ22559","bA541N10.2","OBFC1"],"tldr":"STN1 (CST complex subunit STN1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Melanoma.","summary":"Component of the CST complex proposed to act as a specialised replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.82, genetic association 0.71, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26200","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26200"},{"label":"UniProt Q9H668","url":"https://www.uniprot.org/uniprotkb/Q9H668/entry"},{"label":"NCBI Gene 79991","url":"https://www.ncbi.nlm.nih.gov/gene/79991"},{"label":"Ensembl ENSG00000107960","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107960"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STN1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:26200","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26200","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H668","url":"https://www.uniprot.org/uniprotkb/Q9H668/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107960","url":"https://platform.opentargets.org/target/ENSG00000107960/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: melanoma 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:26200","ensembl":"ENSG00000107960","uniprot":"Q9H668","entrez":"79991","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Component of the CST complex proposed to act as a specialised replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation. However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesised 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha. Location: Nucleus; Chromosome, telomere (UniProt). Locus 10q24.33 (HGNC).","whereFound":["Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},{"id":"strn","kind":"target","name":"STRN","aka":["striatin","Striatin","PPP2R6A","STRN1"],"tldr":"STRN (Striatin) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Thyroid cancer and Lung cancer.","summary":"Calmodulin-binding scaffolding protein which is the centre of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signalling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation.\n\nOpen Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.80, affected pathway 0.91, genetic association 0.51, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11424","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11424"},{"label":"UniProt O43815","url":"https://www.uniprot.org/uniprotkb/O43815/entry"},{"label":"NCBI Gene 6801","url":"https://www.ncbi.nlm.nih.gov/gene/6801"},{"label":"Ensembl ENSG00000115808","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115808"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"STRN","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11424","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11424","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43815","url":"https://www.uniprot.org/uniprotkb/O43815/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000115808","url":"https://platform.opentargets.org/target/ENSG00000115808/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: thyroid cancer 0.54, lung cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11424","ensembl":"ENSG00000115808","uniprot":"O43815","entrez":"6801","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Moqrich et al, Genomics, 1998, \"Cloning of human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9693043/","biology":"Calmodulin-binding scaffolding protein which is the centre of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signalling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation. Location: Cytoplasm; Membrane; Cell projection, dendritic spine (UniProt). Locus 2p22.2 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.54 with thyroid cancer (MONDO_0002108)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)"],"targetClass":"other","prevalence":[]},{"id":"sufu","kind":"target","name":"SUFU","aka":["SUFU negative regulator of hedgehog signaling","Suppressor of fused homolog","SUFUH","SUFUXL","PRO1280"],"tldr":"SUFU (Suppressor of fused homolog) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Lung cancer, Medulloblastoma and 3 more.","summary":"Negative regulator in the hedgehog/smoothened signalling pathway that acts by sequestering the GLI (GI1, GLI2 and GLI3) transcription factors in the cytoplasm. When smoothened signalling is initiated, GLI transcription factors dissociate from SUFU, translocate to the nucleus and activate expression of target genes. In absence of smoothened signalling, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of full-length GLI3 into transcription repressor GLI3R: SUFU participates to GLI3 processing by promoting recruitment of GSK3B to GLI3.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Sonidegib. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.92, animal model 0.54, genetic association 0.34, somatic mutation 0.88). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Pilocytic Astrocytoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16466","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16466"},{"label":"UniProt Q9UMX1","url":"https://www.uniprot.org/uniprotkb/Q9UMX1/entry"},{"label":"NCBI Gene 51684","url":"https://www.ncbi.nlm.nih.gov/gene/51684"},{"label":"Ensembl ENSG00000107882","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107882"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["skin-cancer","lung-cancer","medulloblastoma","meningioma","paediatric-low-grade-glioma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["basal-cell-carcinoma-signalling","hedgehog"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SUFU","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16466","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16466","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UMX1","url":"https://www.uniprot.org/uniprotkb/Q9UMX1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SUFU","url":"https://civicdb.org/features/12074","note":"1 evidence items, 0 assertions, 1 variants; diseases: Medulloblastoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000107882","url":"https://platform.opentargets.org/target/ENSG00000107882/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: melanoma 0.54, skin cancer 0.57, medulloblastoma 0.80, lung cancer 0.51, meningioma 0.72 (GraphQL API, CC0)"},{"label":"IntOGen SUFU","url":"https://www.intogen.org/search?gene=SUFU","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"germline-variant","distribution":"few-types","specificityNote":"Germline variant: UniProt lists Basal cell nevus syndrome 2 (BCNS2) under involvement in disease, and the record is a tumour suppressor; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA SUFU: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining glioma (2 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Lung cancer (all types), Brain and spinal cord tumours (all types)); Open Targets associates it with 4 specific cancer types at or above 0.5 (medulloblastoma, nevoid basal cell carcinoma syndrome, familial meningioma, hereditary neoplastic syndrome). (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UMX1","url":"https://www.uniprot.org/uniprotkb/Q9UMX1/entry","note":"involvement in disease"},{"label":"Human Protein Atlas SUFU tissue","url":"https://www.proteinatlas.org/ENSG00000107882-SUFU/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000107882 associations","url":"https://platform.opentargets.org/target/ENSG00000107882/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16466","ensembl":"ENSG00000107882","uniprot":"Q9UMX1","entrez":"51684","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Stone D.M. et al, J. Cell Sci, 1999, \"Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10564661/","biology":"Negative regulator in the hedgehog/smoothened signalling pathway that acts by sequestering the GLI (GI1, GLI2 and GLI3) transcription factors in the cytoplasm. When smoothened signalling is initiated, GLI transcription factors dissociate from SUFU, translocate to the nucleus and activate expression of target genes. In absence of smoothened signalling, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of full-length GLI3 into transcription repressor GLI3R: SUFU participates to GLI3 processing by promoting recruitment of GSK3B to GLI3. May also act as a negative regulator of beta-catenin signalling. Required for normal embryonic development. Required for the proper formation of hair follicles and the control of epidermal differentiation. Location: Cytoplasm; Nucleus; Cell projection, cilium (UniProt). Locus 10q24.32 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Medulloblastoma: Open Targets association 0.80 with medulloblastoma (MONDO_0007959); CIViC evidence names this disease","Meningioma: Open Targets association 0.72 with meningioma (MONDO_0016642)","Paediatric low-grade glioma: IntOGen driver in 1 cohort (PAST)","Melanoma: Open Targets association 0.54 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"susd2","kind":"target","name":"SUSD2","aka":["sushi domain containing 2","Sushi domain-containing protein 2","BK65A6.2","FLJ22778","W5C5"],"tldr":"SUSD2 (Sushi domain-containing protein 2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"May be a cytokine receptor for GPR15LG. May be a tumour suppressor; together with GPR15LG has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest. May play a role in breast tumorigenesis.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30667","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30667"},{"label":"UniProt Q9UGT4","url":"https://www.uniprot.org/uniprotkb/Q9UGT4/entry"},{"label":"NCBI Gene 56241","url":"https://www.ncbi.nlm.nih.gov/gene/56241"},{"label":"Ensembl ENSG00000099994","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000099994"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SUSD2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30667","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30667","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UGT4","url":"https://www.uniprot.org/uniprotkb/Q9UGT4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen SUSD2","url":"https://www.intogen.org/search?gene=SUSD2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30667","ensembl":"ENSG00000099994","uniprot":"Q9UGT4","entrez":"56241","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dunham et al, Nature, 1999, \"The DNA sequence of human chromosome 22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10591208/","biology":"May be a cytokine receptor for GPR15LG. May be a tumour suppressor; together with GPR15LG has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest. May play a role in breast tumorigenesis. Location: Cell membrane (UniProt). Locus 22q11.23 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"oncogene","prevalence":[]},{"id":"suz12","kind":"target","name":"SUZ12","aka":["SUZ12 polycomb repressive complex 2 subunit","Polycomb protein SUZ12","JJAZ1","KIAA0160","CHET9"],"tldr":"SUZ12 (Polycomb protein SUZ12) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Breast cancer, Prostate cancer and 4 more.","summary":"Polycomb group (PcG) protein. Component of the PRC2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The PRC2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems.\n\nOpen Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes affected pathway 0.72, literature 0.94, genetic association 0.02, somatic mutation 0.89, animal model 0.54). IntOGen calls it a driver in 4 cohorts (2 activating, 2 loss-of-function), covering Acute Myeloid Leukaemia, Prostate Adenocarcinoma, Sarcoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17101","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17101"},{"label":"UniProt Q15022","url":"https://www.uniprot.org/uniprotkb/Q15022/entry"},{"label":"NCBI Gene 23512","url":"https://www.ncbi.nlm.nih.gov/gene/23512"},{"label":"Ensembl ENSG00000178691","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178691"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","breast-cancer","prostate","sarcoma","non-hodgkin-lymphoma","skin-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SUZ12","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:17101","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17101","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15022","url":"https://www.uniprot.org/uniprotkb/Q15022/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000178691","url":"https://platform.opentargets.org/target/ENSG00000178691/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: prostate cancer 0.51, sarcoma 0.53, non-Hodgkin lymphoma 0.52, skin cancer 0.52, breast cancer 0.61, leukaemia 0.61 (GraphQL API, CC0)"},{"label":"IntOGen SUZ12","url":"https://www.intogen.org/search?gene=SUZ12","note":"driver in 4 cohorts (Act 2, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:17101","ensembl":"ENSG00000178691","uniprot":"Q15022","entrez":"23512","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1995, \"Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8590280/","biology":"Polycomb group (PcG) protein. Component of the PRC2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The PRC2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems. Genes repressed by the PRC2 complex include HOXC8, HOXA9, MYT1 and CDKN2A. Location: Nucleus (UniProt). Locus 17q11.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315); IntOGen driver in 2 cohorts (PRAD)","Sarcomas: Open Targets association 0.53 with sarcoma (MONDO_0005089); IntOGen driver in 1 cohort (SARCNOS)","Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},{"id":"syk","kind":"target","name":"SYK","aka":["spleen associated tyrosine kinase","Tyrosine-protein kinase SYK"],"tldr":"SYK (Tyrosine-protein kinase SYK) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Ovarian cancer, Skin cancer, Lung cancer and 4 more.","summary":"Non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Regulates several biological processes including innate and adaptive immunity, cell adhesion, osteoclast maturation, platelet activation and vascular development. Assembles into signalling complexes with activated receptors at the plasma membrane via interaction between its SH2 domains and the receptor tyrosine-phosphorylated ITAM domains.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Paclitaxel. Open Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes clinical 0.50, literature 0.99, genetic association 0.38, somatic mutation 0.98, animal model 0.51). In OnCo, 1 product record names it (Fostamatinib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11491","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11491"},{"label":"UniProt P43405","url":"https://www.uniprot.org/uniprotkb/P43405/entry"},{"label":"NCBI Gene 6850","url":"https://www.ncbi.nlm.nih.gov/gene/6850"},{"label":"Ensembl ENSG00000165025","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165025"},{"label":"Davis et al., Nature 2010: chronic active B-cell receptor signalling in diffuse large B-cell lymphoma","url":"https://doi.org/10.1038/nature08638"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["ovarian","skin-cancer","lung-cancer","breast-cancer","colorectal","leukaemia","melanoma","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["fostamatinib"],"companies":[],"institutions":[],"pathways":["bcr-signalling","inflammation-nfkb"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.50; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, Chronic active B-cell receptor signalling, and BTK: The B-cell receptor normally signals only when it meets antigen. In activated B-cell-like lymphoma it signals continuously: the receptors cluster in the membrane and diffuse slowly, exactly as they do in an antigen-stimulated normal B cell, and knocking down IgM, Ig-kappa, CD79A, CD79B or BTK kills the cell. The signal runs CD79a/b to SYK to BTK to PLC-gamma-2 to protein kinase C beta to the CARD11-BCL10-MALT1 complex and into NF-kB. Mutations of the ITAM module of CD79B raise surface receptor expression and blunt LYN, the feedback brake (Davis 2010). Frequency: Mutations of the first ITAM tyrosine of CD79B in 18% of activated B-cell-like cases, frequent in that subtype and rare in other diffuse large B-cell lymphomas, absent from Burkitt and MALT lymphoma; activating CARD11 mutations in roughly 10% of activated B-cell-like cases (Davis 2010). What it changes about treatment: This is the one pathway in lymphoma where the biology picks the drug today. BTK inhibitors are standard in mantle cell lymphoma and Waldenstrom macroglobulinaemia and have activity in primary CNS lymphoma and in the MCD genetic subtype of diffuse large B-cell lymphoma; they do little in germinal-centre disease."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SYK","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11491","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11491","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P43405","url":"https://www.uniprot.org/uniprotkb/P43405/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SYK","url":"https://civicdb.org/features/5572","note":"1 evidence items, 0 assertions, 1 variants; diseases: Ovarian Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000165025","url":"https://platform.opentargets.org/target/ENSG00000165025/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: colorectal cancer 0.54, melanoma 0.56, skin cancer 0.58, breast cancer 0.54, lung cancer 0.55, leukaemia 0.50 (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"many-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA tissue enhanced in normal lymphoid tissue, parathyroid gland, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA SYK: RNA tissue enhanced (lymphoid tissue 69 nTPM, parathyroid gland 82 nTPM); high antibody staining in 13 normal tissues; highest cancer staining lymphoma (8 of 11 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Skin cancer (all types), Lung cancer (all types), Breast cancer (all types), Colorectal cancer, Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas SYK tissue","url":"https://www.proteinatlas.org/ENSG00000165025-SYK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas SYK pathology","url":"https://www.proteinatlas.org/ENSG00000165025-SYK/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000165025 associations","url":"https://platform.opentargets.org/target/ENSG00000165025/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11491","ensembl":"ENSG00000165025","uniprot":"P43405","entrez":"6850","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yagi et al, Biochem. Biophys. Res. Commun, 1994, \"Cloning of the cDNA for the deleted syk kinase homologous to ZAP-70 from human basophilic leukemia cell line (KU812)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7513161/","biology":"Non-receptor tyrosine kinase which mediates signal transduction downstream of a variety of transmembrane receptors including classical immunoreceptors like the B-cell receptor (BCR). Regulates several biological processes including innate and adaptive immunity, cell adhesion, osteoclast maturation, platelet activation and vascular development. Assembles into signalling complexes with activated receptors at the plasma membrane via interaction between its SH2 domains and the receptor tyrosine-phosphorylated ITAM domains. The association with the receptor can also be indirect and mediated by adapter proteins containing ITAM or partial hemITAM domains. The phosphorylation of the ITAM domains is generally mediated by SRC subfamily kinases upon engagement of the receptor. More rarely signal transduction via SYK could be ITAM-independent. Location: Cell membrane; Cytoplasm, cytosol (UniProt). Locus 9q22.2 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease","Skin cancer: Open Targets association 0.58 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.55 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.54 with colorectal cancer (MONDO_0005575)","Leukaemia: Open Targets association 0.50 with leukaemia (MONDO_0005059)"],"targetClass":"kinase","prevalence":[]},{"id":"taf15","kind":"target","name":"TAF15","aka":["TATA-box binding protein associated factor 15","TATA-binding protein-associated factor 2N","hTAFII68","RBP56","Npl3","TAF2N"],"tldr":"TAF15 (TATA-binding protein-associated factor 2N) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Mesothelioma and Pleural mesothelioma.","summary":"RNA and ssDNA-binding protein that may play specific roles during transcription initiation at distinct promoters. Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3'. Can enter the preinitiation complex together with the RNA polymerase II (Pol II).\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Bladder Urothelial Carcinoma, Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11547","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11547"},{"label":"UniProt Q92804","url":"https://www.uniprot.org/uniprotkb/Q92804/entry"},{"label":"NCBI Gene 8148","url":"https://www.ncbi.nlm.nih.gov/gene/8148"},{"label":"Ensembl ENSG00000270647","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000270647"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["urothelial","mesothelioma","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TAF15","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11547","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11547","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92804","url":"https://www.uniprot.org/uniprotkb/Q92804/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TAF15","url":"https://www.intogen.org/search?gene=TAF15","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11547","ensembl":"ENSG00000270647","uniprot":"Q92804","entrez":"8148","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Morohoshi et al, Genomics, 1996, \"Cloning and mapping of a human RBP56 gene encoding a putative RNA binding protein similar to FUS/TLS and EWS proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8954779/","biology":"RNA and ssDNA-binding protein that may play specific roles during transcription initiation at distinct promoters. Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3'. Can enter the preinitiation complex together with the RNA polymerase II (Pol II). Location: Nucleus; Cytoplasm (UniProt). Locus 17q12 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"taf1l","kind":"target","name":"TAF1L","aka":["TATA-box binding protein associated factor 1 like","Transcription initiation factor TFIID subunit 1-like"],"tldr":"TAF1L (Transcription initiation factor TFIID subunit 1-like) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer.","summary":"May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18056","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18056"},{"label":"UniProt Q8IZX4","url":"https://www.uniprot.org/uniprotkb/Q8IZX4/entry"},{"label":"NCBI Gene 138474","url":"https://www.ncbi.nlm.nih.gov/gene/138474"},{"label":"Ensembl ENSG00000122728","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122728"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TAF1L","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18056","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18056","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IZX4","url":"https://www.uniprot.org/uniprotkb/Q8IZX4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TAF1L","url":"https://www.intogen.org/search?gene=TAF1L","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18056","ensembl":"ENSG00000122728","uniprot":"Q8IZX4","entrez":"138474","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wang P.J. et al, Hum. Mol. Genet, 2002, \"Functional substitution for TAF(II)250 by a retroposed homolog that is expressed in human spermatogenesis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12217962/","biology":"May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced. Location: Nucleus (UniProt). Locus 9p21.1 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tal1","kind":"target","name":"TAL1","aka":["TAL bHLH transcription factor 1, erythroid differentiation factor","T-cell acute lymphocytic leukemia protein 1","bHLHa17","TCL5"],"tldr":"TAL1 (T-cell acute lymphocytic leukaemia protein 1) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Non-Hodgkin lymphoma, Skin cancer and 2 more.","summary":"Implicated in the genesis of haemopoietic malignancies. It may play an important role in haemopoietic differentiation. Serves as a positive regulator of erythroid differentiation.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.90, animal model 0.64, somatic mutation 0.75). IntOGen calls it a driver in 1 cohort (0 activating, 0 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11556","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11556"},{"label":"UniProt P17542","url":"https://www.uniprot.org/uniprotkb/P17542/entry"},{"label":"NCBI Gene 6886","url":"https://www.ncbi.nlm.nih.gov/gene/6886"},{"label":"Ensembl ENSG00000162367","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162367"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","non-hodgkin-lymphoma","skin-cancer","leukaemia","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TAL1","role":["fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11556","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11556","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P17542","url":"https://www.uniprot.org/uniprotkb/P17542/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000162367","url":"https://platform.opentargets.org/target/ENSG00000162367/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.52, non-Hodgkin lymphoma 0.56, skin cancer 0.52, leukaemia 0.52 (GraphQL API, CC0)"},{"label":"IntOGen TAL1","url":"https://www.intogen.org/search?gene=TAL1","note":"driver in 1 cohort (Act 0, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11556","ensembl":"ENSG00000162367","uniprot":"P17542","entrez":"6886","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Begley C.G. et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"The gene SCL is expressed during early hematopoiesis and encodes a differentiation-related DNA-binding motif\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2602361/","biology":"Implicated in the genesis of haemopoietic malignancies. It may play an important role in haemopoietic differentiation. Serves as a positive regulator of erythroid differentiation. Location: Nucleus (UniProt). Locus 1p33 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Leukaemia: Open Targets association 0.52 with leukaemia (MONDO_0005059)","Acute lymphoblastic leukaemia: Open Targets association 0.52 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"transcription","prevalence":[]},{"id":"tal2","kind":"target","name":"TAL2","aka":["TAL bHLH transcription factor 2","T-cell acute lymphocytic leukemia protein 2","bHLHa19"],"tldr":"TAL2 (T-cell acute lymphocytic leukaemia protein 2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Glioma & glioblastoma.","summary":"UniProt has no function text for Q16559; HGNC names it \"TAL bHLH transcription factor 2\".\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.09, animal model 0.50, genetic association 0.07, somatic mutation 0.80). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Glioblastoma Multiforme.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11557","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11557"},{"label":"UniProt Q16559","url":"https://www.uniprot.org/uniprotkb/Q16559/entry"},{"label":"NCBI Gene 6887","url":"https://www.ncbi.nlm.nih.gov/gene/6887"},{"label":"Ensembl ENSG00000186051","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186051"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TAL2","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11557","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11557","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q16559","url":"https://www.uniprot.org/uniprotkb/Q16559/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000186051","url":"https://platform.opentargets.org/target/ENSG00000186051/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"},{"label":"IntOGen TAL2","url":"https://www.intogen.org/search?gene=TAL2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11557","ensembl":"ENSG00000186051","uniprot":"Q16559","entrez":"6887","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xia et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"TAL2, a helix-loop-helix gene activated by the (7;9)(q34;q32) translocation in human T-cell leukemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1763056/","biology":"UniProt has no function text for Q16559; HGNC names it \"TAL bHLH transcription factor 2\". Locus 9q31.2 (HGNC).","whereFound":["Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"oncogene","prevalence":[]},{"id":"tbk1","kind":"target","name":"TBK1","aka":["TANK binding kinase 1","Serine/threonine-protein kinase TBK1"],"tldr":"TBK1 (Serine/threonine-protein kinase TBK1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents. Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X. This activity allows subsequent homodimerisation and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Selumetinib and AZ909. In OnCo, 1 product record names it (ADU-S100 (MIW815)).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11584","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11584"},{"label":"UniProt Q9UHD2","url":"https://www.uniprot.org/uniprotkb/Q9UHD2/entry"},{"label":"NCBI Gene 29110","url":"https://www.ncbi.nlm.nih.gov/gene/29110"},{"label":"Ensembl ENSG00000183735","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183735"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["adu-s100"],"companies":[],"institutions":[],"pathways":["cgas-sting"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TBK1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11584","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11584","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UHD2","url":"https://www.uniprot.org/uniprotkb/Q9UHD2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TBK1","url":"https://civicdb.org/features/11322","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (ADU-S100 (MIW815)) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA TBK1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining melanoma (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TBK1 tissue","url":"https://www.proteinatlas.org/ENSG00000183735-TBK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183735 associations","url":"https://platform.opentargets.org/target/ENSG00000183735/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11584","ensembl":"ENSG00000183735","uniprot":"Q9UHD2","entrez":"29110","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pomerantz J.L. et al, EMBO J, 1999, \"NF-kB activation by a signaling complex containing TRAF2, TANK, and TBK1, a novel IKK-related kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10581243/","biology":"Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents. Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X. This activity allows subsequent homodimerisation and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB. In order to establish such an antiviral state, TBK1 form several different complexes whose composition depends on the type of cell and cellular stimuli. Plays a key role in IRF3 activation: acts by first phosphorylating innate adapter proteins MAVS, STING1 and TICAM1 on their pLxIS motif, leading to recruitment of IRF3, thereby licensing IRF3 for phosphorylation by TBK1. Phosphorylated IRF3 dissociates from the adapter proteins, dimerises, and then enters the nucleus to induce expression of interferons. Location: Cytoplasm (UniProt). Locus 12q14.2 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"tbl1xr1","kind":"target","name":"TBL1XR1","aka":["TBL1X/Y related 1","F-box-like/WD repeat-containing protein TBL1XR1","IRA1","FLJ12894","TBLR1","C21","DC42"],"tldr":"TBL1XR1 (F-box-like/WD repeat-containing protein TBL1XR1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 5 more.","summary":"F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.68 (direct and indirect evidence; datatypes literature 0.96, animal model 0.28, genetic association 0.34, somatic mutation 0.83). IntOGen calls it a driver in 9 cohorts (8 activating, 1 loss-of-function), covering Acute Lymphoblastic Leukaemia, Burkitt Lymphoma, Invasive Breast Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29529","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29529"},{"label":"UniProt Q9BZK7","url":"https://www.uniprot.org/uniprotkb/Q9BZK7/entry"},{"label":"NCBI Gene 79718","url":"https://www.ncbi.nlm.nih.gov/gene/79718"},{"label":"Ensembl ENSG00000177565","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177565"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","breast-cancer","mesothelioma","lung-cancer","skin-cancer","dlbcl","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 8 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TBL1XR1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29529","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29529","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BZK7","url":"https://www.uniprot.org/uniprotkb/Q9BZK7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TBL1XR1","url":"https://civicdb.org/features/15004","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000177565","url":"https://platform.opentargets.org/target/ENSG00000177565/associations","note":"association with cancer (MONDO_0004992) 0.68; per-cancer scores at or above 0.5: melanoma 0.51, diffuse large B-cell lymphoma 0.67, non-Hodgkin lymphoma 0.74, skin cancer 0.52, breast cancer 0.58, lung cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen TBL1XR1","url":"https://www.intogen.org/search?gene=TBL1XR1","note":"driver in 9 cohorts (Act 8, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TBL1XR1: RNA low tissue specificity; high antibody staining in 43 normal tissues; highest cancer staining breast cancer (12 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Breast cancer (all types), Mesothelioma, Lung cancer (all types), Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9BZK7","url":"https://www.uniprot.org/uniprotkb/Q9BZK7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TBL1XR1","url":"https://civicdb.org/features/15004","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen TBL1XR1","url":"https://www.intogen.org/search?gene=TBL1XR1","note":"driver in 9 cohorts (Act 8, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TBL1XR1 tissue","url":"https://www.proteinatlas.org/ENSG00000177565-TBL1XR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000177565 associations","url":"https://platform.opentargets.org/target/ENSG00000177565/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29529","ensembl":"ENSG00000177565","uniprot":"Q9BZK7","entrez":"79718","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, Exp. Hematol, 2000, \"Identification of four human cDNAs that are differentially expressed by early hematopoietic progenitors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11063877/","biology":"F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation. Location: Nucleus (UniProt). Locus 3q26.32 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.74 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 3 cohorts (MLYM, NHL)","Leukaemia: Open Targets association 0.59 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)"],"targetClass":"transcription","prevalence":[]},{"id":"tbpl1","kind":"target","name":"TBPL1","aka":["TATA-box binding protein like 1","TATA box-binding protein-like 1","TRF2"],"tldr":"TBPL1 (TATA box-binding protein-like 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Part of a specialised transcription system that mediates the transcription of most ribosomal proteins through the 5'-TCT-3' motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.73, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11589","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11589"},{"label":"UniProt P62380","url":"https://www.uniprot.org/uniprotkb/P62380/entry"},{"label":"NCBI Gene 9519","url":"https://www.ncbi.nlm.nih.gov/gene/9519"},{"label":"Ensembl ENSG00000028839","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000028839"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TBPL1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11589","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11589","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62380","url":"https://www.uniprot.org/uniprotkb/P62380/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000028839","url":"https://platform.opentargets.org/target/ENSG00000028839/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11589","ensembl":"ENSG00000028839","uniprot":"P62380","entrez":"9519","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ohbayashi et al, Biochem. Biophys. Res. Commun, 1999, \"Isolation of cDNA, chromosome mapping, and expression of the human TBP-like protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10082669/","biology":"Part of a specialised transcription system that mediates the transcription of most ribosomal proteins through the 5'-TCT-3' motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box. Location: Cytoplasm; Nucleus (UniProt). Locus 6q23.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"tbx1","kind":"target","name":"TBX1","aka":["T-box transcription factor 1","T-box transcription factor TBX1","CATCH22"],"tldr":"TBX1 (T-box transcription factor TBX1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development. Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.97, animal model 0.52, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11592","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592"},{"label":"UniProt O43435","url":"https://www.uniprot.org/uniprotkb/O43435/entry"},{"label":"NCBI Gene 6899","url":"https://www.ncbi.nlm.nih.gov/gene/6899"},{"label":"Ensembl ENSG00000184058","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184058"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TBX1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11592","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43435","url":"https://www.uniprot.org/uniprotkb/O43435/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184058","url":"https://platform.opentargets.org/target/ENSG00000184058/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11592","ensembl":"ENSG00000184058","uniprot":"O43435","entrez":"6899","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chieffo et al, Genomics, 1997, \"Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9268629/","biology":"Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development. Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2. Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch. Required for hair follicle stem cell self-renewal. Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence. Location: Nucleus (UniProt). Locus 22q11.21 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"tbx3","kind":"target","name":"TBX3","aka":["T-box transcription factor 3","T-box transcription factor TBX3","TBX3-ISO"],"tldr":"TBX3 (T-box transcription factor TBX3) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer, Colorectal cancer, Skin cancer and 3 more.","summary":"Transcriptional repressor involved in developmental processes. Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes. Probably plays a role in limb pattern formation.\n\nOpen Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes affected pathway 0.30, literature 0.98, genetic association 0.73, somatic mutation 0.95, animal model 0.55). IntOGen calls it a driver in 8 cohorts (4 activating, 4 loss-of-function), covering Invasive Breast Carcinoma, Colorectal Adenocarcinoma, Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11602","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11602"},{"label":"UniProt O15119","url":"https://www.uniprot.org/uniprotkb/O15119/entry"},{"label":"NCBI Gene 6926","url":"https://www.ncbi.nlm.nih.gov/gene/6926"},{"label":"Ensembl ENSG00000135111","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135111"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer","colorectal","skin-cancer","prostate","melanoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TBX3","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11602","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11602","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15119","url":"https://www.uniprot.org/uniprotkb/O15119/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135111","url":"https://platform.opentargets.org/target/ENSG00000135111/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: colorectal cancer 0.62, prostate cancer 0.52, melanoma 0.59, skin cancer 0.59, breast cancer 0.75 (GraphQL API, CC0)"},{"label":"IntOGen TBX3","url":"https://www.intogen.org/search?gene=TBX3","note":"driver in 8 cohorts (Act 4, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11602","ensembl":"ENSG00000135111","uniprot":"O15119","entrez":"6926","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bamshad et al, Nat. Genet, 1997, \"Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9207801/","biology":"Transcriptional repressor involved in developmental processes. Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes. Probably plays a role in limb pattern formation. Required for mammary placode induction, and maintenance of the mammary buds during development. Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX2. Required, together with TBX2, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signalling. Location: Nucleus (UniProt). Locus 12q24.21 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.75 with breast cancer (MONDO_0007254); IntOGen driver in 5 cohorts (BRCA)","Colorectal cancer: Open Targets association 0.62 with colorectal cancer (MONDO_0005575); IntOGen driver in 2 cohorts (COADREAD)","Skin cancer: Open Targets association 0.59 with skin cancer (MONDO_0002898)","Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315)","Melanoma: Open Targets association 0.59 with melanoma (MONDO_0005105)","Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"transcription","prevalence":[]},{"id":"tbxt","kind":"target","name":"TBXT","aka":["T-box transcription factor T"],"tldr":"TBXT (T-box transcription factor T) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Chordoma.","summary":"Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene transcription when bound to such a site.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 3 variants, naming Nivolumab. In OnCo, 1 product record names it (GI-6301).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11515","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11515"},{"label":"UniProt O15178","url":"https://www.uniprot.org/uniprotkb/O15178/entry"},{"label":"NCBI Gene 6862","url":"https://www.ncbi.nlm.nih.gov/gene/6862"},{"label":"Ensembl ENSG00000164458","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164458"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["chordoma"],"sections":[],"technologies":[],"targets":[],"drugs":["gi-6301"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Poorly Differentiated Chordoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TBXT","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11515","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11515","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15178","url":"https://www.uniprot.org/uniprotkb/O15178/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TBXT","url":"https://civicdb.org/features/5581","note":"5 evidence items, 0 assertions, 3 variants; diseases: Chordoma, Poorly Differentiated Chordoma (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enriched in cancer (Testicular Germ Cell Tumor (TCGA)) and group enriched in normal parathyroid gland, pituitary gland, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA TBXT: RNA group enriched (parathyroid gland 2 nTPM, pituitary gland 1 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TBXT tissue","url":"https://www.proteinatlas.org/ENSG00000164458-TBXT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas TBXT pathology","url":"https://www.proteinatlas.org/ENSG00000164458-TBXT/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164458 associations","url":"https://platform.opentargets.org/target/ENSG00000164458/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11515","ensembl":"ENSG00000164458","uniprot":"O15178","entrez":"6862","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Edwards Y.H. et al, Genome Res, 1996, \"The human homolog T of the mouse T(Brachyury) gene; gene structure, cDNA sequence, and assignment to chromosome 6q27\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8963900/","biology":"Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene transcription when bound to such a site. Location: Nucleus (UniProt). Locus 6q27 (HGNC).","whereFound":["Chordoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"tcea1","kind":"target","name":"TCEA1","aka":["transcription elongation factor A1","Transcription elongation factor A protein 1","TF2S","TFIIS","GTF2S"],"tldr":"TCEA1 (Transcription elongation factor A protein 1) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Oral cavity cancer.","summary":"Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.23, genetic association 0.00, somatic mutation 0.89).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11612","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11612"},{"label":"UniProt P23193","url":"https://www.uniprot.org/uniprotkb/P23193/entry"},{"label":"NCBI Gene 6917","url":"https://www.ncbi.nlm.nih.gov/gene/6917"},{"label":"Ensembl ENSG00000187735","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187735"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["oral-cavity-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TCEA1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11612","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11612","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23193","url":"https://www.uniprot.org/uniprotkb/P23193/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000187735","url":"https://platform.opentargets.org/target/ENSG00000187735/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: oral cavity cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11612","ensembl":"ENSG00000187735","uniprot":"P23193","entrez":"6917","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yoo et al, Nucleic Acids Res, 1991, \"Cloning, expression and characterization of the human transcription elongation factor, TFIIS\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1708494/","biology":"Necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. The arresting sites in DNA have the property of trapping a certain fraction of elongating RNA polymerases that pass through, resulting in locked ternary complexes. Cleavage of the nascent transcript by S-II allows the resumption of elongation from the new 3'-terminus. Location: Nucleus (UniProt). Locus 8q11.23 (HGNC).","whereFound":["Oral cavity cancer: Open Targets association 0.51 with oral cavity cancer (MONDO_0005515)"],"targetClass":"transcription","prevalence":[]},{"id":"tcf12","kind":"target","name":"TCF12","aka":["transcription factor 12","Transcription factor 12","HTF4","HsT17266","bHLHb20","p64"],"tldr":"TCF12 (Transcription factor 12) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Glioma & glioblastoma.","summary":"Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 1 loss-of-function), covering Glioblastoma Multiforme, Low-Grade Glioma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11623","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11623"},{"label":"UniProt Q99081","url":"https://www.uniprot.org/uniprotkb/Q99081/entry"},{"label":"NCBI Gene 6938","url":"https://www.ncbi.nlm.nih.gov/gene/6938"},{"label":"Ensembl ENSG00000140262","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140262"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TCF12","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11623","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11623","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q99081","url":"https://www.uniprot.org/uniprotkb/Q99081/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TCF12","url":"https://www.intogen.org/search?gene=TCF12","note":"driver in 2 cohorts (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11623","ensembl":"ENSG00000140262","uniprot":"Q99081","entrez":"6938","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, Nucleic Acids Res, 1991, \"HTF4: a new human helix-loop-helix protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1886779/","biology":"Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). May be involved in the functional network that regulates the development of the GnRH axis. Location: Nucleus (UniProt). Locus 15q21.3 (HGNC).","whereFound":["Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tcf19","kind":"target","name":"TCF19","aka":["transcription factor 19","Transcription factor 19","SC1"],"tldr":"TCF19 (Transcription factor 19) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Potential transcription factor that may play a role in the regulation of genes involved in cell cycle G1/S transition. May bind to regulatory elements of genes, including the promoter of the transcription factor FOXO1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Mirdametinib and Birabresib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11629","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11629"},{"label":"UniProt Q9Y242","url":"https://www.uniprot.org/uniprotkb/Q9Y242/entry"},{"label":"NCBI Gene 6941","url":"https://www.ncbi.nlm.nih.gov/gene/6941"},{"label":"Ensembl ENSG00000137310","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137310"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TCF19","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11629","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11629","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y242","url":"https://www.uniprot.org/uniprotkb/Q9Y242/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TCF19","url":"https://civicdb.org/features/5654","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TCF19: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TCF19 tissue","url":"https://www.proteinatlas.org/ENSG00000137310-TCF19/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137310 associations","url":"https://platform.opentargets.org/target/ENSG00000137310/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11629","ensembl":"ENSG00000137310","uniprot":"Q9Y242","entrez":"6941","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ku D.H. et al, Cell Growth Differ, 1991, \"A new growth-regulated complementary DNA with the sequence of a putative trans-activating factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1868030/","biology":"Potential transcription factor that may play a role in the regulation of genes involved in cell cycle G1/S transition. May bind to regulatory elements of genes, including the promoter of the transcription factor FOXO1. Location: Nucleus (UniProt). Locus 6p21.33 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"tcf3","kind":"target","name":"TCF3","aka":["transcription factor 3","Transcription factor E2-alpha","E2A","ITF1","MGC129647","MGC129648","bHLHb21","E47","p75"],"tldr":"TCF3 (Transcription factor E2-alpha) is a protein that switches other genes on and off. The public catalogues list it as a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma, Lung cancer and 3 more.","summary":"Transcriptional regulator involved in the initiation of neuronal differentiation and mesenchymal to epithelial transition. Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Together with TCF15, required for the mesenchymal to epithelial transition.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.00, somatic mutation 0.83).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11633","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11633"},{"label":"UniProt P15923","url":"https://www.uniprot.org/uniprotkb/P15923/entry"},{"label":"NCBI Gene 6929","url":"https://www.ncbi.nlm.nih.gov/gene/6929"},{"label":"Ensembl ENSG00000071564","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000071564"},{"label":"Schmitz et al., Nature 2012: Burkitt lymphoma pathogenesis from structural and functional genomics","url":"https://doi.org/10.1038/nature11378"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","lung-cancer","burkitt-lymphoma","all-leukemia","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["bcr-signalling","pi3k-akt-mtor","cell-cycle-engine-cdks"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, TCF3, ID3 and CCND3 in Burkitt lymphoma: A MYC translocation alone does not make a Burkitt lymphoma; it needs a partner that supplies survival. In Burkitt the partner is tonic B-cell receptor signalling through TCF3, the transcription factor also known as E2A: mutations either activate TCF3 or inactivate its negative regulator ID3, and TCF3 then switches on the PI3K pathway partly by augmenting tonic receptor signalling. A second, independent lesion drives the cell cycle directly, through CCND3 mutations that produce unusually stable cyclin D3. Frequency: TCF3 or ID3 mutation in 70% of sporadic Burkitt lymphoma cases and oncogenic CCND3 mutations in 38%, in a study combining high-throughput RNA sequencing with RNA interference screening (Schmitz 2012). What it changes about treatment: Not yet, and the gap is uncomfortable, because the regimens that cure Burkitt lymphoma are the most toxic in lymphoma and are the reason the disease is hard to treat in older patients and in low-resource settings, which is exactly where the endemic form occurs."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TCF3","role":["biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11633","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11633","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15923","url":"https://www.uniprot.org/uniprotkb/P15923/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TCF3","url":"https://civicdb.org/features/5646","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000071564","url":"https://platform.opentargets.org/target/ENSG00000071564/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.51, acute lymphoblastic leukaemia 0.58, non-Hodgkin lymphoma 0.61, lung cancer 0.53, leukaemia 0.61 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TCF3: RNA low tissue specificity; high antibody staining in 5 normal tissues; highest cancer staining colorectal cancer (3 of 10 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P15923","url":"https://www.uniprot.org/uniprotkb/P15923/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TCF3","url":"https://civicdb.org/features/5646","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"Human Protein Atlas TCF3 tissue","url":"https://www.proteinatlas.org/ENSG00000071564-TCF3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000071564 associations","url":"https://platform.opentargets.org/target/ENSG00000071564/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11633","ensembl":"ENSG00000071564","uniprot":"P15923","entrez":"6929","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Murre et al, Cell, 1989, \"A new DNA binding and dimerization motif in immunoglobulin enhancer binding, daughterless, MyoD, and myc proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2493990/","biology":"Transcriptional regulator involved in the initiation of neuronal differentiation and mesenchymal to epithelial transition. Heterodimers between TCF3 and tissue-specific basic helix-loop-helix (bHLH) proteins play major roles in determining tissue-specific cell fate during embryogenesis, like muscle or early B-cell differentiation. Together with TCF15, required for the mesenchymal to epithelial transition. Dimers bind DNA on E-box motifs: 5'-CANNTG-3'. Binds to the kappa-E2 site in the kappa immunoglobulin gene enhancer. Binds to IEB1 and IEB2, which are short DNA sequences in the insulin gene transcription control region. Location: Nucleus (UniProt). Locus 19p13.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.61 with non-Hodgkin lymphoma (MONDO_0018908)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Burkitt lymphoma: CIViC evidence names this disease","Acute lymphoblastic leukaemia: Open Targets association 0.58 with acute lymphoblastic leukaemia (MONDO_0004967)","Non-small-cell lung cancer: Open Targets association 0.51 with non-small cell lung carcinoma (MONDO_0005233)"],"targetClass":"transcription","prevalence":[]},{"id":"tcf4","kind":"target","name":"TCF4","aka":["transcription factor 4","Transcription factor 4","SEF2-1B","ITF2","bHLHb19","E2-2"],"tldr":"TCF4 (Transcription factor 4) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Medulloblastoma and Paediatric low-grade glioma.","summary":"Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').\n\nIntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Medulloblastoma, Pilocytic Astrocytoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11634","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11634"},{"label":"UniProt P15884","url":"https://www.uniprot.org/uniprotkb/P15884/entry"},{"label":"NCBI Gene 6925","url":"https://www.ncbi.nlm.nih.gov/gene/6925"},{"label":"Ensembl ENSG00000196628","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196628"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["medulloblastoma","paediatric-low-grade-glioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TCF4","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11634","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11634","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15884","url":"https://www.uniprot.org/uniprotkb/P15884/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TCF4","url":"https://www.intogen.org/search?gene=TCF4","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11634","ensembl":"ENSG00000196628","uniprot":"P15884","entrez":"6925","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Henthorn et al, Nucleic Acids Res, 1990, \"Sequence of the cDNA encoding ITF-2, a positive-acting transcription factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2308860/","biology":"Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription. Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'. Location: Nucleus (UniProt). Locus 18q21.2 (HGNC).","whereFound":["Medulloblastoma: IntOGen driver in 1 cohort (MBL)","Paediatric low-grade glioma: IntOGen driver in 1 cohort (PAST)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tcf7l2","kind":"target","name":"TCF7L2","aka":["transcription factor 7 like 2","Transcription factor 7-like 2","TCF-4","TCF4"],"tldr":"TCF7L2 (Transcription factor 7-like 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Breast cancer, Prostate cancer and 3 more.","summary":"Participates in the Wnt signalling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as a repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1.\n\nOpen Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.58, literature 0.97, genetic association 0.72, somatic mutation 0.96, animal model 0.49). IntOGen calls it a driver in 7 cohorts (0 activating, 7 loss-of-function), covering Colon Adenocarcinoma, Colorectal Adenocarcinoma, Hepatocellular Carcinoma, Rectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11641","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11641"},{"label":"UniProt Q9NQB0","url":"https://www.uniprot.org/uniprotkb/Q9NQB0/entry"},{"label":"NCBI Gene 6934","url":"https://www.ncbi.nlm.nih.gov/gene/6934"},{"label":"Ensembl ENSG00000148737","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148737"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","breast-cancer","prostate","hcc","skin-cancer","rectal-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["wnt"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-seshagiri-rspo-fusions-colon-nature-2012","paper-tcga-colorectal-comprehensive-characterization-nature-2012"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 7 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: mutated in 7 to 15% and involved in the recurrent VTI1A-TCF7L2 fusion (3 of 594 TCGA samples on cBioPortal); recurrent TCF7L2 mutations were among the new findings of the Genentech exome and transcriptome series (Seshagiri 2012)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TCF7L2","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11641","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11641","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NQB0","url":"https://www.uniprot.org/uniprotkb/Q9NQB0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000148737","url":"https://platform.opentargets.org/target/ENSG00000148737/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.76, prostate cancer 0.60, skin cancer 0.52, breast cancer 0.65 (GraphQL API, CC0)"},{"label":"IntOGen TCF7L2","url":"https://www.intogen.org/search?gene=TCF7L2","note":"driver in 7 cohorts (Act 0, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11641","ensembl":"ENSG00000148737","uniprot":"Q9NQB0","entrez":"6934","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Korinek et al, Science, 1997, \"Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9065401/","biology":"Participates in the Wnt signalling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner. Acts as a repressor in the absence of CTNNB1, and as activator in its presence. Activates transcription from promoters with several copies of the Tcf motif 5'-CCTTTGATC-3' in the presence of CTNNB1. TLE1, TLE2, TLE3 and TLE4 repress transactivation mediated by TCF7L2/TCF4 and CTNNB1. Expression of dominant-negative mutants results in cell-cycle arrest in G1. Necessary for the maintenance of the epithelial stem-cell compartment of the small intestine. Location: Nucleus, PML body; Nucleus (UniProt). Locus 10q25.2-q25.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.76 with colorectal cancer (MONDO_0005575); IntOGen driver in 5 cohorts (COAD, COADREAD)","Breast cancer: Open Targets association 0.65 with breast cancer (MONDO_0007254)","Prostate cancer: Open Targets association 0.60 with prostate cancer (MONDO_0008315)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Rectal cancer: IntOGen driver in 1 cohort (READ)","Colorectal cancer: mutation or vti1a-tcf7l2 fusion 7-15%"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"colorectal","pct":"7-15","measure":"Mutation or VTI1A-TCF7L2 fusion","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 1,088 of 7,237, 15.0%, in crc_msk_2026; 124 of 1,134, 10.9%, in crc_msk_2017; 58 of 534, 10.9%, in coadread_tcga_pan_can_atlas_2018; 44 of 619, 7.1%, in coadread_dfci_2016. Structural variants involving TCF7L2 appear in 4 of 594 TCGA samples (VTI1A-TCF7L2 in 3) and 12 of 7,237 in crc_msk_2026. Recurrent TCF7L2 mutations were among the new findings of the Genentech exome and transcriptome series, and the TCGA analysis reported a NAV2-TCF7L1 fusion (Seshagiri 2012, Cancer Genome Atlas Network 2012)."}]},{"id":"tcl1a","kind":"target","name":"TCL1A","aka":["TCL1 family AKT coactivator A","T-cell leukemia/lymphoma protein 1A","TCL1"],"tldr":"TCL1A (T-cell leukaemia/lymphoma protein 1A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-Hodgkin lymphoma, Skin cancer, Diffuse large B-cell lymphoma and 1 more.","summary":"Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3. Promotes nuclear translocation of AKT1. Enhances cell proliferation, stabilises mitochondrial membrane potential and promotes cell survival.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.76, genetic association 0.48, somatic mutation 0.89). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11648","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11648"},{"label":"UniProt P56279","url":"https://www.uniprot.org/uniprotkb/P56279/entry"},{"label":"NCBI Gene 8115","url":"https://www.ncbi.nlm.nih.gov/gene/8115"},{"label":"Ensembl ENSG00000100721","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100721"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","skin-cancer","dlbcl","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TCL1A","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11648","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11648","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P56279","url":"https://www.uniprot.org/uniprotkb/P56279/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100721","url":"https://platform.opentargets.org/target/ENSG00000100721/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: melanoma 0.51, non-Hodgkin lymphoma 0.56, skin cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen TCL1A","url":"https://www.intogen.org/search?gene=TCL1A","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11648","ensembl":"ENSG00000100721","uniprot":"P56279","entrez":"8115","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Virgilio et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Identification of the TCL1 gene involved in T-cell malignancies\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7809072/","biology":"Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3. Promotes nuclear translocation of AKT1. Enhances cell proliferation, stabilises mitochondrial membrane potential and promotes cell survival. Location: Cytoplasm; Nucleus; Microsome; Endoplasmic reticulum (UniProt). Locus 14q32.13 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.56 with non-Hodgkin lymphoma (MONDO_0018908)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: IntOGen driver in 1 cohort (DLBCLNOS)","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tdo2","kind":"target","name":"TDO2","aka":["tryptophan 2,3-dioxygenase","TDO"],"tldr":"TDO2 does the same job as IDO1, breaking down tryptophan into kynurenine, which quietens T cells. It is one reason IDO1 inhibitors alone may not have been enough; no TDO2 drug has reached late trials.","summary":"TDO2 (chromosome 4q32.1) is a haem-dependent dioxygenase that catalyses the oxidative cleavage of the L-tryptophan pyrrole ring, converting it to N-formyl-L-kynurenine (UniProt P48775). IDO1 and TDO2 catalyse the commitment step of the kynurenine pathway; kynurenine activates the aryl hydrocarbon receptor, generating immune-tolerant dendritic cells and regulatory T cells and a tumour microenvironment defective at recognising cancer cells (Cheong and Sun 2018, Trends Pharmacol Sci). No TDO2-selective agent was found in ClinicalTrials.gov under the names the corpus knows.","asOf":"2026-09-24","links":[{"label":"HGNC HGNC:11708","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11708"},{"label":"UniProt P48775","url":"https://www.uniprot.org/uniprotkb/P48775/entry"},{"label":"NCBI Gene 6999","url":"https://www.ncbi.nlm.nih.gov/gene/6999"},{"label":"Cheong and Sun 2018 (Europe PMC)","url":"https://europepmc.org/article/MED/29254698"}],"tags":["checkpoint-map"],"related":["ido1","epacadostat"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["cancer-immunity-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded: HGNC and UniProt carry no positivity rates."],"provenance":{"editedBy":"OnCo checkpoint map (HGNC REST, UniProt REST, ClinicalTrials.gov v2)","editedOn":"2026-09-24"},"symbol":"TDO2","role":["immune-checkpoint"],"sources":[{"label":"HGNC HGNC:11708","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11708","note":"approved symbol, name, aliases and cross-references"},{"label":"UniProt P48775","url":"https://www.uniprot.org/uniprotkb/P48775/entry","note":"protein name, function and tissue specificity"}],"specificitySources":[],"hgnc":"HGNC:11708","ensembl":"ENSG00000151790","uniprot":"P48775","entrez":"6999","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Comings D.E. et al, Genomics, 1995, \"Sequence of human tryptophan 2,3-dioxygenase (TDO2): presence of a glucocorticoid response-like element composed of a GTT repeat and an intronic CCCCT repeat\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8666386/","biology":"The liver-type tryptophan dioxygenase; UniProt records no tissue distribution for the human protein, so none is claimed here.","whereFound":["Not recorded by UniProt for the human protein"],"targetClass":"enzyme","prevalence":[]},{"id":"tec","kind":"target","name":"TEC","aka":["tec protein tyrosine kinase","Tyrosine-protein kinase Tec","PSCTK4"],"tldr":"TEC (Tyrosine-protein kinase Tec) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and an oncogene driver, and an approved or late-stage drug is recorded against it. Tied to Oesophageal cancer and Oesophageal squamous cell carcinoma.","summary":"Non-receptor tyrosine kinase that contributes to signalling from many receptors and participates as a signal transducer in multiple downstream pathways, including regulation of the actin cytoskeleton. Plays a redundant role to ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Oesophageal Squamous Cell Carcinoma. In OnCo, 2 product records name it (Ibrutinib and Acalabrutinib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11719","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11719"},{"label":"UniProt P42680","url":"https://www.uniprot.org/uniprotkb/P42680/entry"},{"label":"NCBI Gene 7006","url":"https://www.ncbi.nlm.nih.gov/gene/7006"},{"label":"Ensembl ENSG00000135605","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135605"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["esophageal","oesophageal-squamous-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":["acalabrutinib","ibrutinib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 2 OnCo product records name it; IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TEC","role":["drug-target","oncogene-driver"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11719","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11719","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42680","url":"https://www.uniprot.org/uniprotkb/P42680/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TEC","url":"https://www.intogen.org/search?gene=TEC","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 2 medicines aimed at it (Acalabrutinib, Ibrutinib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA TEC: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 21 nTPM); high antibody staining in 10 normal tissues; highest cancer staining lymphoma (9 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Oesophageal cancer); approvals of single-target medicines aimed at it also list Leukaemia, Lymphoma, not counted; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TEC tissue","url":"https://www.proteinatlas.org/ENSG00000135605-TEC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000135605 associations","url":"https://platform.opentargets.org/target/ENSG00000135605/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11719","ensembl":"ENSG00000135605","uniprot":"P42680","entrez":"7006","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sato et al, Leukemia, 1994, \"Molecular cloning and analysis of the human Tec protein-tyrosine kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7934162/","biology":"Non-receptor tyrosine kinase that contributes to signalling from many receptors and participates as a signal transducer in multiple downstream pathways, including regulation of the actin cytoskeleton. Plays a redundant role to ITK in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. Required for TCR-dependent IL2 gene induction. Phosphorylates DOK1, one CD28-specific substrate, and contributes to CD28-signalling. Mediates signals that negatively regulate IL2RA expression induced by TCR cross-linking. Location: Cytoplasm; Cell membrane; Cytoplasm, cytoskeleton (UniProt). Locus 4p12-p11 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 1 cohort (ESCC)","Oesophageal squamous cell carcinoma: IntOGen driver in 1 cohort (ESCC)"],"targetClass":"kinase","prevalence":[]},{"id":"tent4a","kind":"target","name":"TENT4A","aka":["terminal nucleotidyltransferase 4A","Terminal nucleotidyltransferase 4A","TRF4","LAK-1","TRF4-1","PAPD7"],"tldr":"TENT4A (Terminal nucleotidyltransferase 4A) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Terminal nucleotidyltransferase that catalyses preferentially the transfer of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilisation by protecting mRNAs from active deadenylation. Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.31, affected pathway 0.89, genetic association 0.12).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16705","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16705"},{"label":"UniProt Q5XG87","url":"https://www.uniprot.org/uniprotkb/Q5XG87/entry"},{"label":"NCBI Gene 11044","url":"https://www.ncbi.nlm.nih.gov/gene/11044"},{"label":"Ensembl ENSG00000112941","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112941"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TENT4A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16705","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16705","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5XG87","url":"https://www.uniprot.org/uniprotkb/Q5XG87/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000112941","url":"https://platform.opentargets.org/target/ENSG00000112941/associations","note":"association with cancer (MONDO_0004992) 0.57;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16705","ensembl":"ENSG00000112941","uniprot":"Q5XG87","entrez":"11044","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Abe et al, 1997, \"mLT positive LAK-cell clone No. 1\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q5XG87/entry","biology":"Terminal nucleotidyltransferase that catalyses preferentially the transfer of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilisation by protecting mRNAs from active deadenylation. Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Has no terminal uridylyltransferase activity, and does not play a role in replication-dependent histone mRNA degradation via uridylation. Location: Cytoplasm; Nucleus, nucleoplasm (UniProt). Locus 5p15.31 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"tent5c","kind":"target","name":"TENT5C","aka":["terminal nucleotidyltransferase 5C","Terminal nucleotidyltransferase 5C","FLJ20202","FAM46C"],"tldr":"TENT5C (Terminal nucleotidyltransferase 5C) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma, Skin cancer, Colorectal cancer and 1 more.","summary":"Catalyses the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3'-OH terminal group and enhances mRNA stability and gene expression. Can also elongate RNA oligos ending with uridine molecule, provided that the sequence is adenosine-rich. Mainly targets mRNAs encoding endoplasmic reticulum-targeted protein.\n\nOpen Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes literature 0.92, animal model 0.44, genetic association 0.10, somatic mutation 0.92). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24712","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24712"},{"label":"UniProt Q5VWP2","url":"https://www.uniprot.org/uniprotkb/Q5VWP2/entry"},{"label":"NCBI Gene 54855","url":"https://www.ncbi.nlm.nih.gov/gene/54855"},{"label":"Ensembl ENSG00000183508","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183508"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["multiple-myeloma","skin-cancer","colorectal","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TENT5C","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24712","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24712","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5VWP2","url":"https://www.uniprot.org/uniprotkb/Q5VWP2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000183508","url":"https://platform.opentargets.org/target/ENSG00000183508/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: colorectal cancer 0.51, plasma cell myeloma 0.54, skin cancer 0.52, lung cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen TENT5C","url":"https://www.intogen.org/search?gene=TENT5C","note":"driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:24712","ensembl":"ENSG00000183508","uniprot":"Q5VWP2","entrez":"54855","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Catalyses the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3'-OH terminal group and enhances mRNA stability and gene expression. Can also elongate RNA oligos ending with uridine molecule, provided that the sequence is adenosine-rich. Mainly targets mRNAs encoding endoplasmic reticulum-targeted protein. Location: Nucleus; Cytoplasm; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 1p12 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.54 with plasma cell myeloma (MONDO_0009693); IntOGen driver in 3 cohorts (PCM)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Lung cancer: Open Targets association 0.50 with lung cancer (MONDO_0008903)"],"targetClass":"enzyme","prevalence":[]},{"id":"tert","kind":"target","name":"TERT","aka":["telomerase reverse transcriptase","Telomerase reverse transcriptase","TP2","TCS1","hEST2","EST2"],"tldr":"TERT (Telomerase reverse transcriptase) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.","summary":"Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells.\n\nCIViC holds 18 clinical evidence items and 0 assertions across 8 variants, naming UO126, Larotrectinib and Iodine I-131. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.91, clinical 0.50, affected pathway 0.61, literature 1.00, genetic association 0.86, somatic mutation 0.90, animal model 0.27). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Papillary Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11730","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11730"},{"label":"UniProt O14746","url":"https://www.uniprot.org/uniprotkb/O14746/entry"},{"label":"NCBI Gene 7015","url":"https://www.ncbi.nlm.nih.gov/gene/7015"},{"label":"Ensembl ENSG00000164362","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164362"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","lung-cancer","skin-cancer","breast-cancer","urothelial","ovarian","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hepatocellular-carcinoma-signalling","telomere-maintenance"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.82; IntOGen calls it an activating (Act) driver in 1 cohort; CIViC holds 18 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Brain Glioma; Papillary Thyroid Carcinoma; Acral Lentiginous Melanoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TERT","role":["drug-target","oncogene-driver","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11730","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11730","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14746","url":"https://www.uniprot.org/uniprotkb/O14746/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TERT","url":"https://civicdb.org/features/79","note":"18 evidence items, 0 assertions, 8 variants; diseases: Glioblastoma, Thyroid Cancer, Brain Glioma, Papillary Thyroid Carcinoma, Clear Cell Renal Cell Carcinoma and 5 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000164362","url":"https://platform.opentargets.org/target/ENSG00000164362/associations","note":"association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, colorectal cancer 0.61, gastric cancer 0.51, hepatocellular carcinoma 0.60, prostate cancer 0.61, urinary bladder cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen TERT","url":"https://www.intogen.org/search?gene=TERT","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TERT: RNA not detected; no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lung cancer (all types), Skin cancer (all types), Breast cancer (all types), Bladder & urothelial cancer, Ovarian cancer and more); Open Targets associates it with 22 specific cancer types at or above 0.5 (dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, acute myeloid leukemia, autosomal recessive dyskeratosis congenita 4, melanoma, cutaneous malignant, susceptibility to, 9, urinary bladder cancer and more). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O14746","url":"https://www.uniprot.org/uniprotkb/O14746/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TERT","url":"https://civicdb.org/features/79","note":"18 evidence items, 0 assertions, 8 variants; diseases: Glioblastoma, Thyroid Cancer, Brain Glioma, Papillary Thyroid Carcinoma, Clear Cell Renal Cell Carcinoma and 5 more (GraphQL API, CC0)"},{"label":"IntOGen TERT","url":"https://www.intogen.org/search?gene=TERT","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TERT tissue","url":"https://www.proteinatlas.org/ENSG00000164362-TERT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164362 associations","url":"https://platform.opentargets.org/target/ENSG00000164362/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11730","ensembl":"ENSG00000164362","uniprot":"O14746","entrez":"7015","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Meyerson et al, Cell, 1997, \"hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9288757/","biology":"Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyses the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. Location: Nucleus, nucleolus; Nucleus, nucleoplasm; Nucleus; Chromosome, telomere (UniProt). Locus 5p15.33 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.75 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.75 with leukaemia (MONDO_0005059)","Lung cancer: Open Targets association 0.68 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.66 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.66 with breast cancer (MONDO_0007254)","Bladder & urothelial cancer: Open Targets association 0.64 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease"],"targetClass":"oncogene","prevalence":[]},{"id":"tet1","kind":"target","name":"TET1","aka":["tet methylcytosine dioxygenase 1","Methylcytosine dioxygenase TET1","KIAA1676","bA119F7.1","CXXC6"],"tldr":"TET1 (Methylcytosine dioxygenase TET1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Hepatocellular carcinoma, Testicular germ cell tumours and 5 more.","summary":"Dioxygenase that plays a key role in active DNA demethylation, by catalysing the sequential oxidation of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC), and 5-carboxylcytosine (5caC). In addition to its role in DNA demethylation, plays a more general role in chromatin regulation by recruiting histone modifying protein complexes to alter histone marks and chromatin accessibility, leading to both activation and repression of gene expression. Plays therefore a role in many biological processes, including stem cell maintenance, T- and B-cell development, inflammation regulation, genomic imprinting, neural activity or DNA repair.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Immune Checkpoint Inhibitor. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.99, animal model 0.32, genetic association 0.00, somatic mutation 0.89). IntOGen calls it a driver in 8 cohorts (1 activating, 7 loss-of-function), covering Colon Adenocarcinoma, Glioblastoma Multiforme, Hepatocellular Carcinoma, Medulloblastoma, Mixed Germ Cell Tumour, Nasopharyngeal Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29484","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29484"},{"label":"UniProt Q8NFU7","url":"https://www.uniprot.org/uniprotkb/Q8NFU7/entry"},{"label":"NCBI Gene 80312","url":"https://www.ncbi.nlm.nih.gov/gene/80312"},{"label":"Ensembl ENSG00000138336","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138336"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["colorectal","hcc","testicular","nasopharyngeal","rcc","gastric","skin-cancer","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 7 cohorts; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TET1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29484","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29484","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NFU7","url":"https://www.uniprot.org/uniprotkb/Q8NFU7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TET1","url":"https://civicdb.org/features/15369","note":"1 evidence items, 0 assertions, 2 variants; diseases: Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000138336","url":"https://platform.opentargets.org/target/ENSG00000138336/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.55, ovarian cancer 0.52, melanoma 0.52, skin cancer 0.56, biliary tract cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen TET1","url":"https://www.intogen.org/search?gene=TET1","note":"driver in 8 cohorts (Act 1, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance) and a fusion partner (UniProt records a translocation), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TET1: RNA low tissue specificity; no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Hepatocellular carcinoma, Testicular germ cell tumours, Nasopharyngeal carcinoma, Renal cell carcinoma, Gastric & gastro-oesophageal junction cancer, Skin cancer (all types) and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q8NFU7","url":"https://www.uniprot.org/uniprotkb/Q8NFU7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TET1","url":"https://civicdb.org/features/15369","note":"1 evidence items, 0 assertions, 2 variants; diseases: Cancer (GraphQL API, CC0)"},{"label":"IntOGen TET1","url":"https://www.intogen.org/search?gene=TET1","note":"driver in 8 cohorts (Act 1, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TET1 tissue","url":"https://www.proteinatlas.org/ENSG00000138336-TET1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138336 associations","url":"https://platform.opentargets.org/target/ENSG00000138336/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29484","ensembl":"ENSG00000138336","uniprot":"Q8NFU7","entrez":"80312","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11214970/","biology":"Dioxygenase that plays a key role in active DNA demethylation, by catalysing the sequential oxidation of the modified genomic base 5-methylcytosine (5mC) into 5-hydroxymethylcytosine (5hmC), 5-formylcytosine (5fC), and 5-carboxylcytosine (5caC). In addition to its role in DNA demethylation, plays a more general role in chromatin regulation by recruiting histone modifying protein complexes to alter histone marks and chromatin accessibility, leading to both activation and repression of gene expression. Plays therefore a role in many biological processes, including stem cell maintenance, T- and B-cell development, inflammation regulation, genomic imprinting, neural activity or DNA repair. Involved in the balance between pluripotency and lineage commitment of cells and plays a role in embryonic stem cells maintenance and inner cell mass cell specification. Together with QSER1, plays an essential role in the protection and maintenance of transcriptional and developmental programs to inhibit the binding of DNMT3A/3B and therefore de novo methylation. May play a role in pancreatic beta-cell specification during development. Location: Nucleus; Chromosome (UniProt). Locus 10q21.3 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COAD)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Testicular germ cell tumours: IntOGen driver in 1 cohort (MGCT)","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Renal cell carcinoma: IntOGen driver in 1 cohort (PRCC)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"transcription","prevalence":[]},{"id":"tet2","kind":"target","name":"TET2","aka":["KIAA1546","tet methylcytosine dioxygenase 2"],"tldr":"TET2 is an enzyme that helps erase methyl marks from DNA so genes can be switched back on. Losing it is one of the commonest first steps toward blood cancer; mutant IDH blocks it indirectly, which is part of how ivosidenib works when it restores normal maturation.","summary":"TET2 (chromosome 4q24) is a dioxygenase that converts 5-methylcytosine to 5-hydroxymethylcytosine and on to 5-formylcytosine and 5-carboxylcytosine, the first steps of active DNA demethylation, and also recruits the O-GlcNAc transferase OGT to CpG-rich transcription start sites of active genes (UniProt Q6N021). The clonal-haematopoiesis pathway record lists TET2 with DNMT3A and ASXL1 among the mutations of clonal haematopoiesis of indeterminate potential, present in more than a tenth of people over 70 and progressing to myeloid neoplasm at about 0.5 to 1% a year. In OnCo it appears as the enzyme that 2-hydroxyglutarate from mutant IDH1 inhibits, so that ivosidenib restores TET2-dependent demethylation and differentiation, and as a mutation of the follicular helper T-cell lymphomas in which romidepsin is active.","asOf":"2026-09-22","links":[{"label":"HGNC HGNC:25941","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25941"},{"label":"UniProt Q6N021","url":"https://www.uniprot.org/uniprotkb/Q6N021/entry"},{"label":"NCBI Gene 54790","url":"https://www.ncbi.nlm.nih.gov/gene/54790"},{"label":"Sakata-Yanagimoto et al., Nat Genet 2014: somatic RHOA G17V in angioimmunoblastic T-cell lymphoma","url":"https://doi.org/10.1038/ng.2872"},{"label":"Palomero et al., Nat Genet 2014: recurrent mutations in epigenetic regulators, RHOA and FYN in peripheral T-cell lymphoma","url":"https://doi.org/10.1038/ng.2873"}],"tags":["wave5-target"],"related":["ivosidenib","romidepsin","idh","dnmt3a"],"cancers":["aml","aml-idh","peripheral-t-cell-lymphoma","non-hodgkin-lymphoma"],"sections":[],"technologies":["epigenetic-drugs"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["epigenetic-reprogramming","clonal-haematopoiesis","idh-2hg"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Prevalence not recorded in this wave: HGNC and UniProt carry no positivity rates and no other source was consulted.","Lymphoma, RHOA G17V and the epigenetic mutations of T-follicular-helper lymphoma: A single substitution, G17V, in the small GTPase RHOA produces a protein that does not bind GTP and that blocks the wild-type protein as well. It is specific to the tumour cell, whereas the TET2 mutations that accompany it are found in non-tumour haematopoietic cells too, which places the TET2 lesion earlier, in the stem cell, and makes this lymphoma a disease that grows out of clonal haematopoiesis. Frequency: RHOA G17V in 68% of angioimmunoblastic T-cell lymphoma samples, with every G17V case also carrying a TET2 mutation (Sakata-Yanagimoto 2014); independently, in 22 of 35 angioimmunoblastic cases, 67%, and 8 of 44 peripheral T-cell lymphoma not otherwise specified, 18%, alongside recurrent TET2, DNMT3A and IDH2 mutations and less frequent FYN, ATM, B2M and CD58 lesions (Palomero 2014). What it changes about treatment: Not through an approved test. The hypomethylating agents are used in this disease on the strength of the TET2 and DNMT3A biology rather than on a mutation result, and azacitidine-containing regimens have shown activity in T-follicular-helper histology specifically."],"provenance":{"editedBy":"OnCo content wave 5 (HGNC REST, UniProt REST, corpus drug and pathway records)","editedOn":"2026-09-22"},"symbol":"TET2","role":[],"sources":[],"specificitySources":[],"hgnc":"HGNC:25941","ensembl":"ENSG00000168769","uniprot":"Q6N021","entrez":"54790","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10997877/","biology":"Mutant IDH1 converts alpha-ketoglutarate to the oncometabolite 2-hydroxyglutarate, TET2 and histone demethylases lose activity, and blasts stop maturing; ivosidenib shuts off 2-HG production and TET2 regains activity (ivosidenib mechanism steps). TET2 itself has no drug in the corpus.","whereFound":["Clonal haematopoiesis of indeterminate potential","IDH-mutant AML (TET2 inhibited by 2-hydroxyglutarate)","Follicular helper T-cell lymphomas with TET2 and DNMT3A mutations"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tf","kind":"target","name":"TF","aka":["transferrin","Serotransferrin","PRO1557","PRO2086"],"tldr":"TF (Serotransferrin) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilisation. Serum transferrin may also have a further role in stimulating cell proliferation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Vemurafenib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11740","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11740"},{"label":"UniProt P02787","url":"https://www.uniprot.org/uniprotkb/P02787/entry"},{"label":"NCBI Gene 7018","url":"https://www.ncbi.nlm.nih.gov/gene/7018"},{"label":"Ensembl ENSG00000091513","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000091513"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TF","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11740","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11740","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02787","url":"https://www.uniprot.org/uniprotkb/P02787/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TF","url":"https://civicdb.org/features/5723","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TF: RNA group enriched (liver 7,020 nTPM, retina 2,257 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TF tissue","url":"https://www.proteinatlas.org/ENSG00000091513-TF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000091513 associations","url":"https://platform.opentargets.org/target/ENSG00000091513/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11740","ensembl":"ENSG00000091513","uniprot":"P02787","entrez":"7018","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McGillivray R.T.A. et al, J. Biol. Chem, 1983, \"The primary structure of human serum transferrin. The structures of seven cyanogen bromide fragments and the assembly of the complete structure\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6833213/","biology":"Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. It is responsible for the transport of iron from sites of absorption and heme degradation to those of storage and utilisation. Serum transferrin may also have a further role in stimulating cell proliferation. Location: Secreted (UniProt). Locus 3q22.1 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"tfap4","kind":"target","name":"TFAP4","aka":["transcription factor AP-4","Transcription factor AP-4","AP-4","bHLHc41"],"tldr":"TFAP4 (Transcription factor AP-4) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma and Burkitt lymphoma.","summary":"Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5'-CAGCTG-3'.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 3 cohorts (2 activating, 1 loss-of-function), covering Burkitt Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11745","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11745"},{"label":"UniProt Q01664","url":"https://www.uniprot.org/uniprotkb/Q01664/entry"},{"label":"NCBI Gene 7023","url":"https://www.ncbi.nlm.nih.gov/gene/7023"},{"label":"Ensembl ENSG00000090447","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000090447"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["non-hodgkin-lymphoma","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TFAP4","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11745","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11745","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01664","url":"https://www.uniprot.org/uniprotkb/Q01664/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TFAP4","url":"https://civicdb.org/features/5728","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen TFAP4","url":"https://www.intogen.org/search?gene=TFAP4","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TFAP4: RNA low tissue specificity; high antibody staining in 5 normal tissues; highest cancer staining colorectal cancer (7 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q01664","url":"https://www.uniprot.org/uniprotkb/Q01664/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TFAP4","url":"https://civicdb.org/features/5728","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen TFAP4","url":"https://www.intogen.org/search?gene=TFAP4","note":"driver in 3 cohorts (Act 2, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TFAP4 tissue","url":"https://www.proteinatlas.org/ENSG00000090447-TFAP4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000090447 associations","url":"https://platform.opentargets.org/target/ENSG00000090447/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11745","ensembl":"ENSG00000090447","uniprot":"Q01664","entrez":"7023","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hu Y.-F. et al, Genes Dev, 1990, \"Transcription factor AP-4 contains multiple dimerization domains that regulate dimer specificity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2123466/","biology":"Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5'-CAGCTG-3'. Location: Nucleus (UniProt). Locus 16p13.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (NHL)","Burkitt lymphoma: CIViC evidence names this disease; IntOGen driver in 2 cohorts (BL)"],"targetClass":"transcription","prevalence":[]},{"id":"tfe3","kind":"target","name":"TFE3","aka":["transcription factor binding to IGHM enhancer 3","Transcription factor E3","bHLHe33"],"tldr":"TFE3 (Transcription factor E3) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a fusion partner, and the evidence so far is association rather than a proven role. Tied to Renal cell carcinoma, Sarcomas, Colorectal cancer and 1 more.","summary":"Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response. Specifically recognises and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerisation with itself or with another MiT/TFE family member such as TFEB or MITF. Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFE3 phosphorylation by MTOR promotes its inactivation.\n\nOpen Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.64, somatic mutation 0.98, genetic literature 0.76). In OnCo, 1 product record names it (Cediranib).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11752","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11752"},{"label":"UniProt P19532","url":"https://www.uniprot.org/uniprotkb/P19532/entry"},{"label":"NCBI Gene 7030","url":"https://www.ncbi.nlm.nih.gov/gene/7030"},{"label":"Ensembl ENSG00000068323","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000068323"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["rcc","sarcoma","colorectal","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":["cediranib"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: 1 OnCo product record names it; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TFE3","role":["drug-target","fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11752","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11752","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P19532","url":"https://www.uniprot.org/uniprotkb/P19532/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000068323","url":"https://platform.opentargets.org/target/ENSG00000068323/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: colorectal cancer 0.50, renal cell carcinoma 0.66, melanoma 0.52, sarcoma 0.57 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: 1 of 1 medicines aimed at it name a mutant, fusion, exon or hotspot in their mechanism (Cediranib), an alteration absent from normal cells. HPA TFE3: RNA low tissue specificity; blood lineage group enriched (granulocytes 13 nTPM, monocytes 6 nTPM); high antibody staining in 6 normal tissues; highest cancer staining thyroid cancer (2 of 3 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Sarcomas (soft tissue, bone, GIST), Colorectal cancer, Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 4 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Cediranib"},{"label":"Human Protein Atlas TFE3 tissue","url":"https://www.proteinatlas.org/ENSG00000068323-TFE3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000068323 associations","url":"https://platform.opentargets.org/target/ENSG00000068323/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11752","ensembl":"ENSG00000068323","uniprot":"P19532","entrez":"7030","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Beckmann et al, Genes Dev, 1990, \"TFE3: a helix-loop-helix protein that activates transcription through the immunoglobulin enhancer muE3 motif\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2338243/","biology":"Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response. Specifically recognises and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerisation with itself or with another MiT/TFE family member such as TFEB or MITF. Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFE3 phosphorylation by MTOR promotes its inactivation. Upon starvation or lysosomal stress, inhibition of MTOR induces TFE3 dephosphorylation, resulting in transcription factor activity. Specifically recognises and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression, thereby playing a central role in expression of lysosomal genes. Maintains the pluripotent state of embryonic stem cells by promoting the expression of genes such as ESRRB; mTOR-dependent TFE3 cytosolic retention and inactivation promotes exit from pluripotency. Location: Cytoplasm, cytosol; Nucleus; Lysosome membrane (UniProt). Locus Xp11.23 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.66 with renal cell carcinoma (MONDO_0005086)","Sarcomas: Open Targets association 0.57 with sarcoma (MONDO_0005089)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"tfeb","kind":"target","name":"TFEB","aka":["transcription factor EB","Transcription factor EB","TCFEB","bHLHe35"],"tldr":"TFEB (Transcription factor EB) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Skin cancer, Breast cancer and Melanoma.","summary":"Transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, lysosomal exocytosis, lipid catabolism, energy metabolism and immune response. Specifically recognises and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerisation with itself or with another MiT/TFE family member such as TFE3 or MITF. Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFEB phosphorylation by MTOR promotes its cytosolic retention and subsequent inactivation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 4 variants. Open Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.99, animal model 0.33, genetic association 0.34, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11753","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11753"},{"label":"UniProt P19484","url":"https://www.uniprot.org/uniprotkb/P19484/entry"},{"label":"NCBI Gene 7942","url":"https://www.ncbi.nlm.nih.gov/gene/7942"},{"label":"Ensembl ENSG00000112561","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000112561"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["skin-cancer","breast-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Renal Cell Carcinoma With MiT Translocations."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TFEB","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11753","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11753","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P19484","url":"https://www.uniprot.org/uniprotkb/P19484/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TFEB","url":"https://civicdb.org/features/6380","note":"1 evidence items, 0 assertions, 4 variants; diseases: Renal Cell Carcinoma With MiT Translocations (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000112561","url":"https://platform.opentargets.org/target/ENSG00000112561/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: melanoma 0.53, skin cancer 0.51, breast cancer 0.51 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TFEB: RNA tissue enhanced (skeletal muscle 77 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Skin cancer (all types), Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TFEB tissue","url":"https://www.proteinatlas.org/ENSG00000112561-TFEB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000112561 associations","url":"https://platform.opentargets.org/target/ENSG00000112561/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11753","ensembl":"ENSG00000112561","uniprot":"P19484","entrez":"7942","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Carr C.S. et al, Mol. Cell. Biol, 1990, \"A helix-loop-helix protein related to the immunoglobulin E box-binding proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2115126/","biology":"Transcription factor that acts as a master regulator of lysosomal biogenesis, autophagy, lysosomal exocytosis, lipid catabolism, energy metabolism and immune response. Specifically recognises and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerisation with itself or with another MiT/TFE family member such as TFE3 or MITF. Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, TFEB phosphorylation by MTOR promotes its cytosolic retention and subsequent inactivation. Upon starvation or lysosomal stress, inhibition of MTOR induces TFEB dephosphorylation, resulting in nuclear localisation and transcription factor activity. Specifically recognises and binds the CLEAR-box sequence (5'-GTCACGTGAC-3') present in the regulatory region of many lysosomal genes, leading to activate their expression, thereby playing a central role in expression of lysosomal genes. Regulates lysosomal positioning in response to nutrient deprivation by promoting the expression of PIP4P1. Location: Nucleus; Cytoplasm, cytosol; Lysosome membrane (UniProt). Locus 6p21.1 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)","Melanoma: Open Targets association 0.53 with melanoma (MONDO_0005105)"],"targetClass":"transcription","prevalence":[]},{"id":"tff3","kind":"target","name":"TFF3","aka":["trefoil factor 3","Trefoil factor 3"],"tldr":"TFF3 (Trefoil factor 3) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen).\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Tamoxifen and Aminoglutethimide.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11757","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11757"},{"label":"UniProt Q07654","url":"https://www.uniprot.org/uniprotkb/Q07654/entry"},{"label":"NCBI Gene 7033","url":"https://www.ncbi.nlm.nih.gov/gene/7033"},{"label":"Ensembl ENSG00000160180","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160180"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TFF3","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11757","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11757","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q07654","url":"https://www.uniprot.org/uniprotkb/Q07654/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TFF3","url":"https://civicdb.org/features/5737","note":"1 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TFF3: RNA group enriched (cervix 434 nTPM, intestine 510 nTPM, salivary gland 534 nTPM); blood lineage lineage enriched (granulocytes 2 nTPM); high antibody staining in 7 normal tissues; highest cancer staining endometrial cancer (3 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TFF3 tissue","url":"https://www.proteinatlas.org/ENSG00000160180-TFF3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000160180 associations","url":"https://platform.opentargets.org/target/ENSG00000160180/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11757","ensembl":"ENSG00000160180","uniprot":"Q07654","entrez":"7033","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hauser et al, Proc. Natl. Acad. Sci. U.S.A, 1993, \"hP1.B, a human P-domain peptide homologous with rat intestinal trefoil factor, is expressed also in the ulcer-associated cell lineage and the uterus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8346203/","biology":"Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen). Location: Secreted, extracellular space, extracellular matrix; Cytoplasm (UniProt). Locus 21q22.3 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"tfg","kind":"target","name":"TFG","aka":["trafficking from ER to golgi regulator","TF6","FLJ36137","SPG57"],"tldr":"TFG (trafficking from ER to golgi regulator) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma and Lung cancer.","summary":"Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.86, affected pathway 0.93, genetic association 0.08, somatic mutation 0.79). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11758","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11758"},{"label":"UniProt Q92734","url":"https://www.uniprot.org/uniprotkb/Q92734/entry"},{"label":"NCBI Gene 10342","url":"https://www.ncbi.nlm.nih.gov/gene/10342"},{"label":"Ensembl ENSG00000114354","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000114354"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TFG","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11758","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11758","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92734","url":"https://www.uniprot.org/uniprotkb/Q92734/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000114354","url":"https://platform.opentargets.org/target/ENSG00000114354/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen TFG","url":"https://www.intogen.org/search?gene=TFG","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11758","ensembl":"ENSG00000114354","uniprot":"Q92734","entrez":"10342","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Greco et al, Mol. Cell. Biol, 1995, \"The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7565764/","biology":"Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus. Location: Endoplasmic reticulum (UniProt). Locus 3q12.2 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)"],"targetClass":"oncogene","prevalence":[]},{"id":"tfrc","kind":"target","name":"TFRC","aka":["transferrin receptor","Transferrin receptor protein 1","CD71","TFR1","p90"],"tldr":"TFRC (Transferrin receptor protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer and Non-small-cell lung cancer.","summary":"Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialised endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor.\n\nIntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Non-Small Cell Lung Cancer, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11763","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11763"},{"label":"UniProt P02786","url":"https://www.uniprot.org/uniprotkb/P02786/entry"},{"label":"NCBI Gene 7037","url":"https://www.ncbi.nlm.nih.gov/gene/7037"},{"label":"Ensembl ENSG00000072274","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072274"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["prostate","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TFRC","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11763","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11763","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P02786","url":"https://www.uniprot.org/uniprotkb/P02786/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TFRC","url":"https://www.intogen.org/search?gene=TFRC","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11763","ensembl":"ENSG00000072274","uniprot":"P02786","entrez":"7037","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schneider et al, Nature, 1984, \"Primary structure of human transferrin receptor deduced from the mRNA sequence\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6090955/","biology":"Cellular uptake of iron occurs via receptor-mediated endocytosis of ligand-occupied transferrin receptor into specialised endosomes. Endosomal acidification leads to iron release. The apotransferrin-receptor complex is then recycled to the cell surface with a return to neutral pH and the concomitant loss of affinity of apotransferrin for its receptor. Transferrin receptor is necessary for development of erythrocytes and the nervous system. A second ligand, the hereditary haemochromatosis protein HFE, competes for binding with transferrin for an overlapping C-terminal binding site. Positively regulates T and B cell proliferation through iron uptake. Location: Cell membrane; Melanosome; Secreted (UniProt). Locus 3q29 (HGNC).","whereFound":["Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (NSCLC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tg","kind":"target","name":"TG","aka":["thyroglobulin","Thyroglobulin","AITD3"],"tldr":"TG (Thyroglobulin) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Thyroid cancer.","summary":"Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen. Following TG re-internalisation and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.95, animal model 0.59, genetic association 0.72, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11764","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11764"},{"label":"UniProt P01266","url":"https://www.uniprot.org/uniprotkb/P01266/entry"},{"label":"NCBI Gene 7038","url":"https://www.ncbi.nlm.nih.gov/gene/7038"},{"label":"Ensembl ENSG00000042832","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000042832"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TG","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11764","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11764","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01266","url":"https://www.uniprot.org/uniprotkb/P01266/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000042832","url":"https://platform.opentargets.org/target/ENSG00000042832/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: thyroid cancer 0.55 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11764","ensembl":"ENSG00000042832","uniprot":"P01266","entrez":"7038","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Malthiery et al, Eur. J. Biochem, 1985, \"Sequence of the 5'-end quarter of the human-thyroglobulin messenger ribonucleic acid and of its deduced amino-acid sequence\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3971976/","biology":"Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen. Following TG re-internalisation and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream. One dimer produces 7 thyroid hormone molecules. Location: Secreted (UniProt). Locus 8q24.22 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.55 with thyroid cancer (MONDO_0002108)"],"targetClass":"other","prevalence":[]},{"id":"tgfa","kind":"target","name":"TGFA","aka":["transforming growth factor alpha","Protransforming growth factor alpha"],"tldr":"TGFA (Protransforming growth factor alpha) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Head and neck squamous cell carcinoma.","summary":"TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.76, animal model 0.69, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11765","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11765"},{"label":"UniProt P01135","url":"https://www.uniprot.org/uniprotkb/P01135/entry"},{"label":"NCBI Gene 7039","url":"https://www.ncbi.nlm.nih.gov/gene/7039"},{"label":"Ensembl ENSG00000163235","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163235"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["head-and-neck"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["renal-cell-carcinoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGFA","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11765","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11765","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01135","url":"https://www.uniprot.org/uniprotkb/P01135/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TGFA","url":"https://civicdb.org/features/5742","note":"1 evidence items, 0 assertions, 1 variants; diseases: Head And Neck Squamous Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000163235","url":"https://platform.opentargets.org/target/ENSG00000163235/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TGFA: RNA tissue enhanced (brain 25 nTPM, esophagus 24 nTPM); blood lineage lineage enriched (granulocytes 24 nTPM); no normal tissue stained high; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Head and neck squamous cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TGFA tissue","url":"https://www.proteinatlas.org/ENSG00000163235-TGFA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163235 associations","url":"https://platform.opentargets.org/target/ENSG00000163235/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11765","ensembl":"ENSG00000163235","uniprot":"P01135","entrez":"7039","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Derynck et al, Cell, 1984, \"Human transforming growth factor-alpha: precursor structure and expression in E. coli\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6088071/","biology":"TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar. Location: Secreted, extracellular space; Cell membrane (UniProt). Locus 2p13.3 (HGNC).","whereFound":["Head and neck squamous cell carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"tgfb1","kind":"target","name":"TGFB1","aka":["transforming growth factor beta 1","Transforming growth factor beta-1 proprotein","TGFbeta","DPD1"],"tldr":"TGFB1 (Transforming growth factor beta-1 proprotein) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Myelodysplastic syndromes / neoplasms.","summary":"Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively. Required to maintain the Transforming growth factor beta-1 (TGF-beta-1) chain in a latent state during storage in extracellular matrix. Associates non-covalently with TGF-beta-1 and regulates its activation via interaction with 'milieu molecules', such as LTBP1, LRRC32/GARP and LRRC33/NRROS, that control activation of TGF-beta-1.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes clinical 0.58, affected pathway 0.83, literature 1.00, genetic association 0.16, animal model 0.57).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11766","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11766"},{"label":"UniProt P01137","url":"https://www.uniprot.org/uniprotkb/P01137/entry"},{"label":"NCBI Gene 7040","url":"https://www.ncbi.nlm.nih.gov/gene/7040"},{"label":"Ensembl ENSG00000105329","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105329"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["mds","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["tgf-beta","immune-desert-exclusion"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.92. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Colorectal cancer: TGF-beta in the stroma, not in the cancer cell, is the central problem of the microsatellite-stable majority. The poor-prognosis mesenchymal subtype's signature genes are expressed by fibroblasts rather than epithelium (Isella 2015); fibroblasts raise the frequency of tumour-initiating cells under TGF-beta and every poor-prognosis subtype shares a TGF-beta-induced stromal programme (Calon 2015); and in mice carrying all four main colorectal mutations, TGF-beta blockade unleashed a cytotoxic T-cell response that prevented metastasis and made liver metastases susceptible to checkpoint blockade (Tauriello 2018)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGFB1","role":["drug-target","immune-checkpoint"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11766","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11766","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01137","url":"https://www.uniprot.org/uniprotkb/P01137/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105329","url":"https://platform.opentargets.org/target/ENSG00000105329/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: myelodysplastic syndrome 0.58 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TGFB1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining liver cancer (1 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (myelodysplastic syndrome). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TGFB1 tissue","url":"https://www.proteinatlas.org/ENSG00000105329-TGFB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105329 associations","url":"https://platform.opentargets.org/target/ENSG00000105329/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11766","ensembl":"ENSG00000105329","uniprot":"P01137","entrez":"7040","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Derynck et al, Nature, 1985, \"Human transforming growth factor-beta complementary DNA sequence and expression in normal and transformed cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3861940/","biology":"Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively. Required to maintain the Transforming growth factor beta-1 (TGF-beta-1) chain in a latent state during storage in extracellular matrix. Associates non-covalently with TGF-beta-1 and regulates its activation via interaction with 'milieu molecules', such as LTBP1, LRRC32/GARP and LRRC33/NRROS, that control activation of TGF-beta-1. Interaction with LRRC33/NRROS regulates activation of TGF-beta-1 in macrophages and microglia. Interaction with LRRC32/GARP controls activation of TGF-beta-1 on the surface of activated regulatory T-cells (Tregs). Interaction with integrins (ITGAV:ITGB6 or ITGAV:ITGB8) results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-1. Location: Secreted, extracellular space, extracellular matrix; Secreted (UniProt). Locus 19q13.2 (HGNC).","whereFound":["Myelodysplastic syndromes / neoplasms: Open Targets association 0.58 with myelodysplastic syndrome (MONDO_0018881)"],"targetClass":"other","prevalence":[]},{"id":"tgfb2","kind":"target","name":"TGFB2","aka":["transforming growth factor beta 2","Transforming growth factor beta-2 proprotein"],"tldr":"TGFB2 (Transforming growth factor beta-2 proprotein) is a gene. The public catalogues list it as a drug target and a fusion partner, and an approved or late-stage drug is recorded against it. Tied to Myelodysplastic syndromes / neoplasms.","summary":"Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively. Required to maintain the Transforming growth factor beta-2 (TGF-beta-2) chain in a latent state during storage in extracellular matrix. Associates non-covalently with TGF-beta-2 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes clinical 0.65, literature 0.99, genetic association 0.59, somatic mutation 0.19, animal model 0.51).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11768"},{"label":"UniProt P61812","url":"https://www.uniprot.org/uniprotkb/P61812/entry"},{"label":"NCBI Gene 7042","url":"https://www.ncbi.nlm.nih.gov/gene/7042"},{"label":"Ensembl ENSG00000092969","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000092969"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["mds"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.92; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGFB2","role":["drug-target","fusion-partner"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11768","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P61812","url":"https://www.uniprot.org/uniprotkb/P61812/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000092969","url":"https://platform.opentargets.org/target/ENSG00000092969/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: myelodysplastic syndrome 0.57 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TGFB2: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (myelodysplastic syndrome). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P61812","url":"https://www.uniprot.org/uniprotkb/P61812/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Human Protein Atlas TGFB2 tissue","url":"https://www.proteinatlas.org/ENSG00000092969-TGFB2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000092969 associations","url":"https://platform.opentargets.org/target/ENSG00000092969/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11768","ensembl":"ENSG00000092969","uniprot":"P61812","entrez":"7042","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: de Martin et al, EMBO J, 1987, \"Complementary DNA for human glioblastoma-derived T cell suppressor factor, a novel member of the transforming growth factor-beta gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3322813/","biology":"Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively. Required to maintain the Transforming growth factor beta-2 (TGF-beta-2) chain in a latent state during storage in extracellular matrix. Associates non-covalently with TGF-beta-2 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2. Multifunctional protein that regulates various processes such as angiogenesis and heart development. Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains remain non-covalently linked rendering TGF-beta-2 inactive during storage in extracellular matrix. At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-2 and maintain it in a latent state during storage in extracellular milieus. Location: Secreted, extracellular space, extracellular matrix; Secreted (UniProt). Locus 1q41 (HGNC).","whereFound":["Myelodysplastic syndromes / neoplasms: Open Targets association 0.57 with myelodysplastic syndrome (MONDO_0018881)"],"targetClass":"other","prevalence":[]},{"id":"tgfb3","kind":"target","name":"TGFB3","aka":["transforming growth factor beta 3","Transforming growth factor beta-3 proprotein","ARVD1"],"tldr":"TGFB3 (Transforming growth factor beta-3 proprotein) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Myelodysplastic syndromes / neoplasms.","summary":"Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix. Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3.\n\nOpen Targets scores its association with cancer at 0.45 (direct and indirect evidence; datatypes literature 0.93, animal model 0.69, genetic association 0.42, clinical 0.58).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11769","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11769"},{"label":"UniProt P10600","url":"https://www.uniprot.org/uniprotkb/P10600/entry"},{"label":"NCBI Gene 7043","url":"https://www.ncbi.nlm.nih.gov/gene/7043"},{"label":"Ensembl ENSG00000119699","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119699"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["mds"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.92. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGFB3","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11769","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11769","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10600","url":"https://www.uniprot.org/uniprotkb/P10600/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000119699","url":"https://platform.opentargets.org/target/ENSG00000119699/associations","note":"association with cancer (MONDO_0004992) 0.45; per-cancer scores at or above 0.5: myelodysplastic syndrome 0.56 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TGFB3: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms); Open Targets associates it with 1 specific cancer type at or above 0.5 (myelodysplastic syndrome). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TGFB3 tissue","url":"https://www.proteinatlas.org/ENSG00000119699-TGFB3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000119699 associations","url":"https://platform.opentargets.org/target/ENSG00000119699/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11769","ensembl":"ENSG00000119699","uniprot":"P10600","entrez":"7043","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: ten Dijke et al, Proc. Natl. Acad. Sci. U.S.A, 1988, \"Identification of another member of the transforming growth factor type beta gene family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3164476/","biology":"Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix. Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3. Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3. Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development. Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix. Location: Secreted, extracellular space, extracellular matrix; Secreted (UniProt). Locus 14q24.3 (HGNC).","whereFound":["Myelodysplastic syndromes / neoplasms: Open Targets association 0.56 with myelodysplastic syndrome (MONDO_0018881)"],"targetClass":"other","prevalence":[]},{"id":"tgfbr1","kind":"target","name":"TGFBR1","aka":["transforming growth factor beta receptor 1","TGF-beta receptor type-1","ALK-5","ACVRLK4","ALK5","TBR-i","ESS1"],"tldr":"TGFBR1 (TGF-beta receptor type-1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a tumour suppressor, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer and Oesophageal and junctional adenocarcinoma.","summary":"Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and haematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes clinical 0.38, affected pathway 0.87, literature 0.98, genetic association 0.26, somatic mutation 0.44, animal model 0.40). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11772","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11772"},{"label":"UniProt P36897","url":"https://www.uniprot.org/uniprotkb/P36897/entry"},{"label":"NCBI Gene 7046","url":"https://www.ncbi.nlm.nih.gov/gene/7046"},{"label":"Ensembl ENSG00000106799","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000106799"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["esophageal","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["tgf-beta"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.38; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGFBR1","role":["drug-target","tumour-suppressor"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11772","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11772","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P36897","url":"https://www.uniprot.org/uniprotkb/P36897/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000106799","url":"https://platform.opentargets.org/target/ENSG00000106799/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"},{"label":"IntOGen TGFBR1","url":"https://www.intogen.org/search?gene=TGFBR1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TGFBR1: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (1 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Oesophageal cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (multiple self-healing squamous epithelioma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P36897","url":"https://www.uniprot.org/uniprotkb/P36897/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TGFBR1","url":"https://www.intogen.org/search?gene=TGFBR1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TGFBR1 tissue","url":"https://www.proteinatlas.org/ENSG00000106799-TGFBR1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000106799 associations","url":"https://platform.opentargets.org/target/ENSG00000106799/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11772","ensembl":"ENSG00000106799","uniprot":"P36897","entrez":"7046","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Franzen et al, Cell, 1993, \"Cloning of a TGF beta type I receptor that forms a heteromeric complex with the TGF beta type II receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8242743/","biology":"Transmembrane serine/threonine kinase forming with the TGF-beta type II serine/threonine kinase receptor, TGFBR2, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and haematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signalling cascade. Location: Cell membrane; Cell junction, tight junction; Cell surface; Membrane raft (UniProt). Locus 9q22.33 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"kinase","prevalence":[]},{"id":"tgfbr2","kind":"target","name":"TGFBR2","aka":["transforming growth factor beta receptor 2","TGF-beta receptor type-2","TBRII","TBR-ii","MFS2"],"tldr":"TGFBR2 (TGF-beta receptor type-2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Oesophageal cancer, Pancreatic ductal adenocarcinoma and 5 more.","summary":"Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and thus regulates a plethora of physiological and pathological processes including cell cycle arrest in epithelial and haematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and activation of TGFBR1 by the constitutively active TGFBR2.\n\nOpen Targets scores its association with cancer at 0.87 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.87, literature 0.99, genetic association 0.85, somatic mutation 0.95, animal model 0.43). IntOGen calls it a driver in 14 cohorts (3 activating, 11 loss-of-function), covering Renal Clear Cell Carcinoma, Cervical Adenocarcinoma, Cervical Squamous Cell Carcinoma, Colorectal Adenocarcinoma, Oesophageal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11773","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11773"},{"label":"UniProt P37173","url":"https://www.uniprot.org/uniprotkb/P37173/entry"},{"label":"NCBI Gene 7048","url":"https://www.ncbi.nlm.nih.gov/gene/7048"},{"label":"Ensembl ENSG00000163513","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163513"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","esophageal","pancreatic","head-and-neck","cervical","breast-cancer","gastric","rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["tgf-beta","mismatch-repair-msi"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-markowitz-tgfbr2-inactivation-msi-colon-science-1995"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 11 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Pancreatic ductal adenocarcinoma: mutated in about 4 to 5% (cBioPortal), part of the TGF-beta pathway with SMAD4, TGFBR1, ACVR1B and ACVR2A that Bailey's ten-pathway analysis names (Bailey 2016); SMAD4 and TGFBR2 mutations are frequently restricted to the invasive carcinoma in cyst progression (Noe 2020).","Colorectal cancer: the archetypal coding-microsatellite target. A polyadenine tract in the gene slips when mismatch repair fails, so TGFBR2 is broken in 38.6% of MSI-high against 1.8% of microsatellite-stable samples in crc_msk_2026; it was the first such gene identified, in 8 of the earliest MSI colon cancer lines, with no surface receptor left (Markowitz 1995)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGFBR2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11773","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11773","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P37173","url":"https://www.uniprot.org/uniprotkb/P37173/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163513","url":"https://platform.opentargets.org/target/ENSG00000163513/associations","note":"association with cancer (MONDO_0004992) 0.87; per-cancer scores at or above 0.5: colorectal cancer 0.72, gastric cancer 0.56, oesophageal cancer 0.68, ovarian cancer 0.51, head and neck squamous cell carcinoma 0.51, breast cancer 0.58 (GraphQL API, CC0)"},{"label":"IntOGen TGFBR2","url":"https://www.intogen.org/search?gene=TGFBR2","note":"driver in 14 cohorts (Act 3, LoF 11); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11773","ensembl":"ENSG00000163513","uniprot":"P37173","entrez":"7048","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lin H.Y. et al, Cell, 1992, \"Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1310899/","biology":"Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and thus regulates a plethora of physiological and pathological processes including cell cycle arrest in epithelial and haematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signalling cascade. Location: Cell membrane; Membrane raft; Secreted (UniProt). Locus 3p24.1 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.72 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Oesophageal cancer: Open Targets association 0.68 with oesophageal cancer (MONDO_0007576); IntOGen driver in 1 cohort (ESCA)","Pancreatic ductal adenocarcinoma: IntOGen driver in 6 cohorts (PAAD, PANCREAS)","Head and neck squamous cell carcinoma: Open Targets association 0.51 with head and neck squamous cell carcinoma (MONDO_0010150); IntOGen driver in 2 cohorts (HNSC)","Cervical cancer: IntOGen driver in 2 cohorts (CEAD, CESC)","Breast cancer: Open Targets association 0.58 with breast cancer (MONDO_0007254)","Colorectal cancer: frameshift of the polyadenine coding microsatellite 3-10%"],"targetClass":"kinase","prevalence":[{"cancerId":"colorectal","pct":"3-10","measure":"Frameshift of the polyadenine coding microsatellite","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 416 of 7,237, 5.7%, in crc_msk_2026; 47 of 1,134, 4.1%, in crc_msk_2017; 59 of 1,516, 3.9%, in crc_eo_2020; 23 of 224, 10.3%, in coadread_tcga_pub; 19 of 534, 3.6%, in coadread_tcga_pan_can_atlas_2018; 29 of 619, 4.7%, in coadread_dfci_2016. Eight of the first colon cancer cell lines with high microsatellite instability carried TGFBR2 mutations clustered in short repeated sequences, with no surface receptor and little transcript (Markowitz 1995)."}]},{"id":"tgfbr3","kind":"target","name":"TGFBR3","aka":["transforming growth factor beta receptor 3","Transforming growth factor beta receptor type 3","betaglycan","BGCAN"],"tldr":"TGFBR3 (Transforming growth factor beta receptor type 3) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"Cell surface receptor that regulates diverse cellular processes including cell proliferation, differentiation, migration, and apoptosis. Initiates BMP, inhibin, and TGF-beta signalling pathways by interacting with different ligands including TGFB1, BMP2, BMP5, BMP7 or GDF5. Alternatively, acts as a cell surface coreceptor for BMP ligands, serving to enhance ligand binding by differentially regulating BMPR1A/ALK3 and BMPR1B/ALK6 receptor trafficking.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11774"},{"label":"UniProt Q03167","url":"https://www.uniprot.org/uniprotkb/Q03167/entry"},{"label":"NCBI Gene 7049","url":"https://www.ncbi.nlm.nih.gov/gene/7049"},{"label":"Ensembl ENSG00000069702","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000069702"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGFBR3","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11774","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q03167","url":"https://www.uniprot.org/uniprotkb/Q03167/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TGFBR3","url":"https://civicdb.org/features/5752","note":"1 evidence items, 0 assertions, 1 variants; diseases: Prostate Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TGFBR3: RNA low tissue specificity; blood lineage group enriched (NK-cells 17 nTPM, T-cells 35 nTPM); high antibody staining in 2 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TGFBR3 tissue","url":"https://www.proteinatlas.org/ENSG00000069702-TGFBR3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000069702 associations","url":"https://platform.opentargets.org/target/ENSG00000069702/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11774","ensembl":"ENSG00000069702","uniprot":"Q03167","entrez":"7049","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Moren et al, Biochem. Biophys. Res. Commun, 1992, \"Molecular cloning and characterization of the human and porcine transforming growth factor-beta type III receptors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1333192/","biology":"Cell surface receptor that regulates diverse cellular processes including cell proliferation, differentiation, migration, and apoptosis. Initiates BMP, inhibin, and TGF-beta signalling pathways by interacting with different ligands including TGFB1, BMP2, BMP5, BMP7 or GDF5. Alternatively, acts as a cell surface coreceptor for BMP ligands, serving to enhance ligand binding by differentially regulating BMPR1A/ALK3 and BMPR1B/ALK6 receptor trafficking. Promotes epithelial cell adhesion, focal adhesion formation and integrin signalling during epithelial cell spreading on fibronectin. By interacting with the scaffolding protein beta-arrestin2/ARRB2, regulates migration or actin cytoskeleton and promotes the activation of CDC42 as well as the inhibition of NF-kappa-B. In gonadotrope cells, acts as an inhibin A coreceptor and regulates follicle-stimulating hormone (FSH) levels and female fertility. Location: Cell membrane; Secreted; Secreted, extracellular space, extracellular matrix (UniProt). Locus 1p22.1 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"tgif1","kind":"target","name":"TGIF1","aka":["TGFB induced factor homeobox 1","Homeobox protein TGIF1","HPE4"],"tldr":"TGIF1 (Homeobox protein TGIF1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer.","summary":"Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Colorectal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11776"},{"label":"UniProt Q15583","url":"https://www.uniprot.org/uniprotkb/Q15583/entry"},{"label":"NCBI Gene 7050","url":"https://www.ncbi.nlm.nih.gov/gene/7050"},{"label":"Ensembl ENSG00000177426","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177426"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGIF1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11776","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15583","url":"https://www.uniprot.org/uniprotkb/Q15583/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TGIF1","url":"https://www.intogen.org/search?gene=TGIF1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11776","ensembl":"ENSG00000177426","uniprot":"Q15583","entrez":"7050","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bertolino et al, J. Biol. Chem, 1995, \"A novel homeobox protein which recognizes a TGT core and functionally interferes with a retinoid-responsive motif\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8537382/","biology":"Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signalling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adult, as illustrated by the down-modulation of the RXR alpha activities. Location: Nucleus (UniProt). Locus 18p11.31 (HGNC).","whereFound":["Colorectal cancer: IntOGen driver in 1 cohort (COADREAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tgm3","kind":"target","name":"TGM3","aka":["transglutaminase 3","Protein-glutamine gamma-glutamyltransferase E"],"tldr":"TGM3 (Protein-glutamine gamma-glutamyltransferase E) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer and Basal cell carcinoma.","summary":"Catalyses the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialised component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyses small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.91, animal model 0.70, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11779","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11779"},{"label":"UniProt Q08188","url":"https://www.uniprot.org/uniprotkb/Q08188/entry"},{"label":"NCBI Gene 7053","url":"https://www.ncbi.nlm.nih.gov/gene/7053"},{"label":"Ensembl ENSG00000125780","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125780"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TGM3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11779","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11779","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q08188","url":"https://www.uniprot.org/uniprotkb/Q08188/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000125780","url":"https://platform.opentargets.org/target/ENSG00000125780/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: skin cancer 0.54, basal cell carcinoma 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11779","ensembl":"ENSG00000125780","uniprot":"Q08188","entrez":"7053","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kim I.-G. et al, J. Biol. Chem, 1993, \"The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8099584/","biology":"Catalyses the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialised component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyses small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold. In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath. Location: Cytoplasm (UniProt). Locus 20p13 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Basal cell carcinoma: Open Targets association 0.53 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"enzyme","prevalence":[]},{"id":"thbs2","kind":"target","name":"THBS2","aka":["thrombospondin 2","Thrombospondin-2","TSP2"],"tldr":"THBS2 (Thrombospondin-2) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11786","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11786"},{"label":"UniProt P35442","url":"https://www.uniprot.org/uniprotkb/P35442/entry"},{"label":"NCBI Gene 7058","url":"https://www.ncbi.nlm.nih.gov/gene/7058"},{"label":"Ensembl ENSG00000186340","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186340"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"THBS2","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11786","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11786","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35442","url":"https://www.uniprot.org/uniprotkb/P35442/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene THBS2","url":"https://civicdb.org/features/5761","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA THBS2: RNA tissue enhanced (blood vessel 160 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas THBS2 tissue","url":"https://www.proteinatlas.org/ENSG00000186340-THBS2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000186340 associations","url":"https://platform.opentargets.org/target/ENSG00000186340/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11786","ensembl":"ENSG00000186340","uniprot":"P35442","entrez":"7058","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Labell T.L. et al, Genomics, 1992, \"Thrombospondin II: partial cDNA sequence, chromosome location, and expression of a second member of the thrombospondin gene family in humans\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1559694/","biology":"Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Ligand for CD36 mediating antiangiogenic properties. Locus 6q27 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"txnrd1","kind":"target","name":"Thioredoxin reductase 1","aka":[],"tldr":"Thioredoxin reductase keeps cells' antioxidant defences charged; arsenic trioxide, the drug that cures most acute promyelocytic leukaemia with ATRA, inhibits it as one of its several actions.","summary":"Thioredoxin reductase 1 is a selenium-containing enzyme that recycles thioredoxin, a small protein that keeps other proteins reduced and protects against oxidative stress. Many cancers over-express it to survive their own high oxidant load. Arsenic trioxide binds the selenocysteine in the enzyme's active site and inhibits it, adding oxidative stress to its direct degradation of the PML-RARA fusion protein in acute promyelocytic leukaemia. Gold compounds such as auranofin inhibit the same enzyme and are in trials for chronic lymphocytic leukaemia and ovarian cancer.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Thioredoxin_reductase","links":[{"label":"UniProt Q16881: TXNRD1","url":"https://www.uniprot.org/uniprotkb/Q16881/entry"},{"label":"HGNC:12437 TXNRD1","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12437"},{"label":"ChEMBL target CHEMBL1927","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL1927"}],"tags":["chembl-gap"],"related":["rrm1"],"cancers":["aml","cll","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":["arsenic-trioxide"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TXNRD1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Arsenic trioxide) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA TXNRD1: RNA low tissue specificity; high antibody staining in 18 normal tissues; highest cancer staining prostate cancer (7 of 9 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Ovarian cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (acute promyelocytic leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TXNRD1 tissue","url":"https://www.proteinatlas.org/ENSG00000198431-TXNRD1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198431 associations","url":"https://platform.opentargets.org/target/ENSG00000198431/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12437","ensembl":"ENSG00000198431","uniprot":"Q16881","entrez":"7296","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gasdaska P.Y. et al, FEBS Lett, 1995, \"Cloning and sequencing of a human thioredoxin reductase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7589432/","biology":"A cytosolic flavoenzyme that uses NADPH to reduce thioredoxin; it supports DNA synthesis through ribonucleotide reductase and buffers reactive oxygen species.","whereFound":["All cells, highest in tumours with high oxidative metabolism","Acute promyelocytic leukaemia treated with arsenic trioxide"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (antioxidant recycling); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"thra","kind":"target","name":"THRA","aka":["thyroid hormone receptor alpha","Thyroid hormone receptor alpha","EAR-7.1/EAR-7.2","THRA3","AR7","NR1A1","TRalpha","TRalpha1","TRalpha2","c-ERBA-1","c-erbA","THRalpha","THRalpha1","THRalpha2","THRA1","THRA2","ERBA1"],"tldr":"THRA (Thyroid hormone receptor alpha) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer.","summary":"Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.90, animal model 0.55, genetic association 0.00, clinical 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11796","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11796"},{"label":"UniProt P10827","url":"https://www.uniprot.org/uniprotkb/P10827/entry"},{"label":"NCBI Gene 7067","url":"https://www.ncbi.nlm.nih.gov/gene/7067"},{"label":"Ensembl ENSG00000126351","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126351"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.91. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"THRA","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11796","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11796","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10827","url":"https://www.uniprot.org/uniprotkb/P10827/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000126351","url":"https://platform.opentargets.org/target/ENSG00000126351/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: thyroid cancer 0.57 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA THRA: RNA tissue enriched (brain 401 nTPM); high antibody staining in 9 normal tissues; highest cancer staining testis cancer (2 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Thyroid cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (differentiated thyroid carcinoma). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas THRA tissue","url":"https://www.proteinatlas.org/ENSG00000126351-THRA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000126351 associations","url":"https://platform.opentargets.org/target/ENSG00000126351/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11796","ensembl":"ENSG00000126351","uniprot":"P10827","entrez":"7067","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Pfahl et al, Nucleic Acids Res, 1987, \"Nucleotide sequence of cDNA encoding a novel human thyroid hormone receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3684612/","biology":"Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action. Location: Nucleus; Cytoplasm (UniProt). Locus 17q21.1 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.57 with thyroid cancer (MONDO_0002108)"],"targetClass":"transcription","prevalence":[]},{"id":"thrap3","kind":"target","name":"THRAP3","aka":["thyroid hormone receptor associated protein 3","Thyroid hormone receptor-associated protein 3","TRAP150","BCLAF2"],"tldr":"THRAP3 (Thyroid hormone receptor-associated protein 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Involved in pre-mRNA splicing. Remains associated with spliced mRNA after splicing which probably involves interactions with the exon junction complex (EJC). Can trigger mRNA decay which seems to be independent of nonsense-mediated decay involving premature stop codons (PTC) recognition.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:22964","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22964"},{"label":"UniProt Q9Y2W1","url":"https://www.uniprot.org/uniprotkb/Q9Y2W1/entry"},{"label":"NCBI Gene 9967","url":"https://www.ncbi.nlm.nih.gov/gene/9967"},{"label":"Ensembl ENSG00000054118","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000054118"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"THRAP3","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:22964","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:22964","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y2W1","url":"https://www.uniprot.org/uniprotkb/Q9Y2W1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen THRAP3","url":"https://www.intogen.org/search?gene=THRAP3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:22964","ensembl":"ENSG00000054118","uniprot":"Q9Y2W1","entrez":"9967","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ito et al, Mol. Cell, 1999, \"Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10198638/","biology":"Involved in pre-mRNA splicing. Remains associated with spliced mRNA after splicing which probably involves interactions with the exon junction complex (EJC). Can trigger mRNA decay which seems to be independent of nonsense-mediated decay involving premature stop codons (PTC) recognition. May be involved in nuclear mRNA decay. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45 is proposed to sequester phosphorylated SFPQ from PTPRC/CD45 pre-mRNA in resting T-cells. Location: Nucleus; Nucleus, nucleoplasm; Nucleus speckle (UniProt). Locus 1p34.3 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"thrb","kind":"target","name":"THRB","aka":["thyroid hormone receptor beta","Thyroid hormone receptor beta","THRB1","THRB2","NR1A2","THR1","ERBA-BETA","TRbeta","TRb","c-erbA-beta","c-erbA-2","THRbeta","TRbeta1","THRbeta1","Thrbeta2","ERBA2"],"tldr":"THRB (Thyroid hormone receptor beta) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Thyroid cancer.","summary":"Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.95, animal model 0.75, genetic association 0.46, clinical 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11799"},{"label":"UniProt P10828","url":"https://www.uniprot.org/uniprotkb/P10828/entry"},{"label":"NCBI Gene 7068","url":"https://www.ncbi.nlm.nih.gov/gene/7068"},{"label":"Ensembl ENSG00000151090","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000151090"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.91. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"THRB","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11799","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10828","url":"https://www.uniprot.org/uniprotkb/P10828/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000151090","url":"https://platform.opentargets.org/target/ENSG00000151090/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: thyroid cancer 0.58 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA THRB: RNA low tissue specificity; blood lineage group enriched (B-cells 2 nTPM, granulocytes 7 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Thyroid cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (differentiated thyroid carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas THRB tissue","url":"https://www.proteinatlas.org/ENSG00000151090-THRB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000151090 associations","url":"https://platform.opentargets.org/target/ENSG00000151090/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11799","ensembl":"ENSG00000151090","uniprot":"P10828","entrez":"7068","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Weinberger et al, Cold Spring Harb. Symp. Quant. Biol, 1986, \"Human steroid receptors and erbA proto-oncogene products: members of a new superfamily of enhancer binding proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3034496/","biology":"Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. Location: Nucleus (UniProt). Locus 3p24.2 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.58 with thyroid cancer (MONDO_0002108)"],"targetClass":"transcription","prevalence":[]},{"id":"tyms","kind":"target","name":"Thymidylate synthase (TYMS)","aka":[],"tldr":"The enzyme that makes the thymine building block of DNA. Fluorouracil, capecitabine and pemetrexed jam it, starving dividing cells of thymidine.","summary":"Thymidylate synthase methylates dUMP to dTMP, the only de novo source of thymidine for DNA synthesis. Fluorouracil, given directly or as the oral prodrug capecitabine, is converted to FdUMP, which forms a stable ternary complex with the enzyme and its folate cofactor; leucovorin (folinic acid) is added to stabilise that complex, which is why FOLFOX and FOLFIRI include it. Pemetrexed inhibits thymidylate synthase alongside other folate enzymes. High tumour TYMS expression is associated with fluoropyrimidine resistance, and DPD deficiency causes severe fluoropyrimidine toxicity.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Thymidylate_synthase","links":[{"label":"UniProt P04818: TYMS","url":"https://www.uniprot.org/uniprotkb/P04818/entry"}],"tags":[],"related":[],"cancers":["colorectal","gastric","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":["fluorouracil","capecitabine","pemetrexed"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TYMS","role":[],"sources":[],"specificity":"lineage-antigen","distribution":"few-types","specificityNote":"Lineage antigen shared with normal bone marrow cells and lymphoid tissue cells: HPA finds the gene tissue enhanced in bone marrow, lymphoid tissue, and the 7 medicines aimed at it (Fluorouracil (5-FU), Capecitabine, Pemetrexed and more) act on the wild-type protein, so the normal lineage is hit too. HPA TYMS: RNA tissue enhanced (bone marrow 84 nTPM, lymphoid tissue 106 nTPM); blood lineage group enriched (NK-cells 7 nTPM, T-cells 14 nTPM); high antibody staining in 4 normal tissues; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Gastric & gastro-oesophageal junction cancer, Pancreatic ductal adenocarcinoma); approvals of single-target medicines aimed at it also list Breast cancer (all types), Hepatocellular carcinoma, Mesothelioma, not counted; Open Targets associates it with 14 specific cancer types at or above 0.5 (dyskeratosis congenita, digenic, non-small cell lung carcinoma, breast cancer, colorectal cancer, dyskeratosis congenita, breast carcinoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TYMS tissue","url":"https://www.proteinatlas.org/ENSG00000176890-TYMS/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas TYMS pathology","url":"https://www.proteinatlas.org/ENSG00000176890-TYMS/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000176890 associations","url":"https://platform.opentargets.org/target/ENSG00000176890/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12441","ensembl":"ENSG00000176890","uniprot":"P04818","entrez":"7298","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takeishi et al, Nucleic Acids Res, 1985, \"Nucleotide sequence of a functional cDNA for human thymidylate synthase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2987839/","biology":"Folate-dependent enzyme converting dUMP to dTMP; inhibited by FdUMP in a ternary complex with 5,10-methylenetetrahydrofolate.","whereFound":["Gastrointestinal cancers treated with fluoropyrimidines","Non-squamous lung cancer and mesothelioma treated with pemetrexed"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (thymidine synthesis); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"tie2","kind":"target","name":"TIE2 receptor (TEK)","aka":[],"tldr":"TIE2 is the angiopoietin receptor that keeps blood vessels stable; regorafenib and cabozantinib block it as part of their attack on the tumour's blood supply.","summary":"TEK (TIE2) is the receptor for angiopoietins 1 and 2 on endothelial cells and a subset of macrophages, controlling vessel maturation and remodelling. Regorafenib and cabozantinib inhibit TIE2 alongside VEGF receptors, and the angiopoietin-2 antibody trebananib was tested in ovarian cancer without approval. TIE2-expressing macrophages are a source of resistance to anti-VEGF therapy.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/TEK_tyrosine_kinase","links":[{"label":"UniProt Q02763: TEK","url":"https://www.uniprot.org/uniprotkb/Q02763/entry"},{"label":"HGNC:11724 TEK","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11724"},{"label":"ChEMBL target CHEMBL4128","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL4128"}],"tags":[],"related":["vegf"],"cancers":["colorectal","hcc","rcc"],"sections":[],"technologies":[],"targets":[],"drugs":["regorafenib","cabozantinib"],"companies":[],"institutions":[],"pathways":[],"terms":["angiogenesis"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TEK","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Kidney Renal Clear Cell Carcinoma (TCGA)) and tissue enhanced in normal placenta, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA TEK: RNA tissue enhanced (placenta 44 nTPM); high antibody staining in 1 normal tissue. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Hepatocellular carcinoma, Renal cell carcinoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (colorectal cancer, medullary thyroid gland carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TEK tissue","url":"https://www.proteinatlas.org/ENSG00000120156-TEK/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas TEK pathology","url":"https://www.proteinatlas.org/ENSG00000120156-TEK/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000120156 associations","url":"https://platform.opentargets.org/target/ENSG00000120156/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11724","ensembl":"ENSG00000120156","uniprot":"Q02763","entrez":"7010","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ziegler S.F. et al, Oncogene, 1993, \"Molecular cloning and characterization of a novel receptor protein tyrosine kinase from human placenta\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8382358/","biology":"A receptor tyrosine kinase activated by angiopoietin-1 and antagonised or weakly activated by angiopoietin-2, signalling through AKT to stabilise the endothelium.","whereFound":["Tumour and normal endothelium","TIE2-expressing monocytes and macrophages"],"targetClass":"kinase","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Signalling protein present in most cells (TIE2 on blood-vessel endothelium); drugs act on the pathway rather than on a mutation that selects patients, so no prevalence applies."}]},{"id":"tigit","kind":"target","name":"TIGIT","aka":[],"tldr":"TIGIT is an inhibitory receptor on T and natural killer cells that binds PVR (CD155) on tumour cells, so blocking it was expected to amplify PD-1 and PD-L1 inhibitors. Tiragolumab, domvanalimab and others then failed to add benefit in phase 3 lung cancer trials despite encouraging phase 2 signals, and the lack of a TIGIT-specific biomarker remains a weakness.","summary":"TIGIT is an inhibitory receptor on T and NK cells that binds PVR (CD155) on tumour cells and competes with the activating receptor CD226, so blocking it was expected to amplify PD-1 and PD-L1 inhibitors. That expectation largely failed in phase 3: tiragolumab (SKYSCRAPER-01), domvanalimab and others did not add meaningful benefit to PD-1/PD-L1 blockade in NSCLC or SCLC, despite encouraging phase 2 signals. Because TIGIT sits on immune cells, patient selection relied on PD-L1 rather than a TIGIT-specific biomarker, and this remains a weakness. Fc-enabled versus Fc-silent antibody design, which changes whether regulatory T cells are depleted, is still debated, and some programmes continue. The newcomer's lesson: TIGIT is a cautionary tale about promising early data that did not survive large randomised trials.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/TIGIT","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/TIGIT"}],"tags":["checkpoint","failed-so-far"],"related":[],"cancers":["nsclc","sclc"],"sections":[],"technologies":["tigit-blockade"],"targets":[],"drugs":["rilvegostomig","hb0036"],"companies":[],"institutions":[],"pathways":["pd1-checkpoint","t-cell-exhaustion"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TIGIT","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"one-type","specificityNote":"Immune or microenvironment target: the record's class is immune checkpoint. HPA TIGIT: RNA tissue enriched (lymphoid tissue 36 nTPM); blood lineage lineage enriched (T-cells 196 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TIGIT tissue","url":"https://www.proteinatlas.org/ENSG00000181847-TIGIT/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q495A1","url":"https://www.uniprot.org/uniprotkb/Q495A1/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000181847 associations","url":"https://platform.opentargets.org/target/ENSG00000181847/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:26838","ensembl":"ENSG00000181847","uniprot":"Q495A1","entrez":"201633","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Binds PVR (CD155) on tumour cells; competes with the activating receptor CD226.","whereFound":["T and NK cells"],"targetClass":"checkpoint","prevalence":[{"cancerId":"nsclc","pct":"n/a","measure":"Immune-cell target; PD-L1 used for selection","source":"https://en.wikipedia.org/wiki/TIGIT"}]},{"id":"tim3","kind":"target","name":"TIM-3","aka":[],"tldr":"An immune checkpoint on exhausted T cells and on leukaemic stem cells; antibodies against it failed in lung cancer and MDS after strong preclinical promise.","summary":"TIM-3 (HAVCR2) is co-expressed with PD-1 on the most exhausted T cells and on leukaemic stem cells (not normal HSCs), and its ligands include galectin-9, CEACAM1, HMGB1 and phosphatidylserine. Sabatolimab plus azacitidine failed in higher-risk MDS (STIMULUS-MDS2, 2023); cobolimab plus dostarlimab in NSCLC (COSTAR Lung) missed its primary endpoint (2024); other anti-TIM-3 antibodies (LY3321367, TSR-022, MBG453) were discontinued or de-prioritised. Remains a rational target in PD-1-refractory disease and for leukaemic stem-cell targeting (CAR-T).","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/HAVCR2","links":[{"label":"STIMULUS-MDS2 (Lancet Haematol 2024)","url":"https://doi.org/10.1016/S2352-3026(23)00333-2"}],"tags":["gap-fill","negative-trials"],"related":["lag3","tigit","pd1"],"cancers":["mds","aml","nsclc"],"sections":[],"technologies":["checkpoint-inhibitor","tim3-blockade"],"targets":[],"drugs":["azd7789","lb1410"],"companies":[],"institutions":[],"pathways":["pd1-checkpoint","t-cell-exhaustion"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-zeidan-lancet-haematol"],"journals":[],"dependsOn":[],"notes":["Prevalence is not well characterised as a positivity rate: TIM-3 marks leukaemic stem cells in most non-APL AML (Kikushige 2010, doi:10.1016/j.stem.2010.11.014; Jan 2011, doi:10.1073/pnas.1100551108) and exhausted T cells in the microenvironment of MDS and NSCLC, but no standard cutoff or per-cancer percentage has been published."],"symbol":"HAVCR2","role":["immune-checkpoint"],"sources":[],"specificity":"immune-microenvironment","distribution":"few-types","specificityNote":"Immune or microenvironment target: the record's class is immune checkpoint. HPA HAVCR2: RNA low tissue specificity; blood lineage group enriched (dendritic cells 119 nTPM, monocytes 63 nTPM, NK-cells 76 nTPM); high antibody staining in 1 normal tissue. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (subcutaneous panniculitis-like T-cell lymphoma). (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas HAVCR2 tissue","url":"https://www.proteinatlas.org/ENSG00000135077-HAVCR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q8TDQ0","url":"https://www.uniprot.org/uniprotkb/Q8TDQ0/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000135077 associations","url":"https://platform.opentargets.org/target/ENSG00000135077/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18437","ensembl":"ENSG00000135077","uniprot":"Q8TDQ0","entrez":"84868","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, 2000, \"Novel human hepatitis A virus cellular receptor\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q8TDQ0/entry","biology":"Type I transmembrane receptor of the TIM family; ligand binding recruits BAT3 release and inhibits TCR signalling; on myeloid cells it regulates innate responses. Marks terminal exhaustion together with PD-1, LAG-3 and TIGIT.","whereFound":["Exhausted CD8 T cells in most solid tumours","Leukaemic stem cells in AML and MDS","Tumour-associated macrophages"],"targetClass":"checkpoint","prevalence":[{"cancerId":"metastatic-cancer","pct":"immune","measure":"Immune-cell target (TIM-3 checkpoint on exhausted T cells and myeloid cells): expressed on immune cells rather than on the tumour, so patient selection rests on the cancer type and, in trials, on PD-L1 or immune biomarkers."}]},{"id":"timp1","kind":"target","name":"TIMP1","aka":["TIMP metallopeptidase inhibitor 1","Metalloproteinase inhibitor 1"],"tldr":"TIMP1 (Metalloproteinase inhibitor 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Fulvestrant and Paclitaxel.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11820"},{"label":"UniProt P01033","url":"https://www.uniprot.org/uniprotkb/P01033/entry"},{"label":"NCBI Gene 7076","url":"https://www.ncbi.nlm.nih.gov/gene/7076"},{"label":"Ensembl ENSG00000102265","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102265"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TIMP1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11820","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P01033","url":"https://www.uniprot.org/uniprotkb/P01033/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TIMP1","url":"https://civicdb.org/features/5777","note":"2 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TIMP1: RNA tissue enhanced (blood vessel 2,943 nTPM); no normal tissue stained high; highest cancer staining breast cancer (1 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TIMP1 tissue","url":"https://www.proteinatlas.org/ENSG00000102265-TIMP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000102265 associations","url":"https://platform.opentargets.org/target/ENSG00000102265/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11820","ensembl":"ENSG00000102265","uniprot":"P01033","entrez":"7076","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Docherty A.J.P. et al, Nature, 1985, \"Sequence of human tissue inhibitor of metalloproteinases and its identity to erythroid-potentiating activity\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3903517/","biology":"Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14. Also functions as a growth factor that regulates cell differentiation, migration and cell death and activates cellular signalling cascades via CD63 and ITGB1. Plays a role in integrin signalling. Mediates erythropoiesis in vitro; but, unlike IL3, it is species-specific, stimulating the growth and differentiation of only human and murine erythroid progenitors. Location: Secreted (UniProt). Locus Xp11.3 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"tissue-factor","kind":"target","name":"Tissue factor","aka":[],"tldr":"Tissue factor is a clotting protein that cancers abnormally display on their surface, used as an ADC target in cervical cancer.","summary":"Tissue factor (F3) initiates the extrinsic coagulation cascade; when cancers display it abnormally on their surface it drives thrombosis and angiogenesis, and it becomes an ADC target. It is overexpressed in cervical, pancreatic, head and neck, and ovarian tumours, with 90-95% of cervical and 50-80% of pancreatic cancers positive by IHC. Tisotumab vedotin (Tivdak) is approved in recurrent cervical cancer on the basis of innovaTV 301, and innovaTV did not select patients on tissue factor expression, so the drug is given without a companion test. Topoisomerase-I payload successors (XNW28012) are in phase 3. The open questions are ocular toxicity management and whether newer payloads widen the indication. The simple version is a clotting protein that cancers wear on their surface, letting an ADC find them.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Tissue_factor","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Tissue_factor"}],"tags":["adc-target"],"related":["tissue-factor-expression"],"cancers":["cervical","pancreatic"],"sections":[],"technologies":[],"targets":[],"drugs":["tisotumab-vedotin"],"companies":["adcendo"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"F3","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 1 cell-killing or cell-finding medicine (Tisotumab vedotin) aim at the antigen, which HPA finds with no normal tissue stained high; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA F3: RNA low tissue specificity; no normal tissue stained high; highest cancer staining skin cancer (7 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Cervical cancer, Pancreatic ductal adenocarcinoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (cervical cancer). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas F3 tissue","url":"https://www.proteinatlas.org/ENSG00000117525-F3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas F3 pathology","url":"https://www.proteinatlas.org/ENSG00000117525-F3/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000117525 associations","url":"https://platform.opentargets.org/target/ENSG00000117525/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3541","ensembl":"ENSG00000117525","uniprot":"P13726","entrez":"2152","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Scarpati E.M. et al, Biochemistry, 1987, \"Human tissue factor: cDNA sequence and chromosome localization of the gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2823875/","biology":"Initiates the extrinsic coagulation cascade; tumour expression drives thrombosis and angiogenesis.","whereFound":["Cervical","Pancreatic","Head and neck","Ovarian"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"cervical","pct":"90-95","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/Tissue_factor","note":"innovaTV did not select on TF"},{"cancerId":"pancreatic","pct":"50-80","measure":"IHC, any expression","source":"https://en.wikipedia.org/wiki/Tissue_factor"}]},{"id":"tlk2","kind":"target","name":"TLK2","aka":["tousled like kinase 2","Serine/threonine-protein kinase tousled-like 2","PKU-ALPHA","MGC44450"],"tldr":"TLK2 (Serine/threonine-protein kinase tousled-like 2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation. Phosphorylates the chromatin assembly factors ASF1A and ASF1B. Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Go6983 and GF109203X.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11842","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11842"},{"label":"UniProt Q86UE8","url":"https://www.uniprot.org/uniprotkb/Q86UE8/entry"},{"label":"NCBI Gene 11011","url":"https://www.ncbi.nlm.nih.gov/gene/11011"},{"label":"Ensembl ENSG00000146872","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000146872"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA damage\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TLK2","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11842","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11842","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86UE8","url":"https://www.uniprot.org/uniprotkb/Q86UE8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TLK2","url":"https://civicdb.org/features/8787","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists TLK2 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TLK2: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TLK2 tissue","url":"https://www.proteinatlas.org/ENSG00000146872-TLK2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000146872 associations","url":"https://platform.opentargets.org/target/ENSG00000146872/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11842","ensembl":"ENSG00000146872","uniprot":"Q86UE8","entrez":"11011","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yamakawa et al, Gene, 1997, \"cDNA cloning and chromosomal mapping of genes encoding novel protein kinases termed PKU-alpha and PKU-beta, which have nuclear localization signal\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9427565/","biology":"Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation. Phosphorylates the chromatin assembly factors ASF1A and ASF1B. Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly. Negative regulator of amino acid starvation-induced autophagy. Location: Nucleus; Nucleus, nucleoplasm; Cytoplasm, perinuclear region; Cytoplasm, cytoskeleton (UniProt). Locus 17q23.2 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"tln1","kind":"target","name":"TLN1","aka":["talin 1","Talin-1","ILWEQ"],"tldr":"TLN1 (Talin-1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"High molecular weight cytoskeletal protein concentrated at regions of cell-matrix and cell-cell contacts. Involved in connections of major cytoskeletal structures to the plasma membrane. With KANK1 co-organise the assembly of cortical microtubule stabilising complexes (CMSCs) positioned to control microtubule-actin crosstalk at focal adhesions (FAs) rims.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.83, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11845","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11845"},{"label":"UniProt Q9Y490","url":"https://www.uniprot.org/uniprotkb/Q9Y490/entry"},{"label":"NCBI Gene 7094","url":"https://www.ncbi.nlm.nih.gov/gene/7094"},{"label":"Ensembl ENSG00000137076","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137076"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TLN1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11845","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11845","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y490","url":"https://www.uniprot.org/uniprotkb/Q9Y490/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137076","url":"https://platform.opentargets.org/target/ENSG00000137076/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11845","ensembl":"ENSG00000137076","uniprot":"Q9Y490","entrez":"7094","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mao et al, 1998, \"Complete cDNA sequence of human talin\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9Y490/entry","biology":"High molecular weight cytoskeletal protein concentrated at regions of cell-matrix and cell-cell contacts. Involved in connections of major cytoskeletal structures to the plasma membrane. With KANK1 co-organise the assembly of cortical microtubule stabilising complexes (CMSCs) positioned to control microtubule-actin crosstalk at focal adhesions (FAs) rims. Location: Cell projection, ruffle membrane; Cytoplasm, cytoskeleton; Cell surface; Cell junction, focal adhesion (UniProt). Locus 9p13.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"tlx1","kind":"target","name":"TLX1","aka":["T cell leukemia homeobox 1","T-cell leukemia homeobox protein 1","TCL3","HOX11"],"tldr":"TLX1 (T-cell leukaemia homeobox protein 1) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"Controls the genesis of the spleen. Binds to the DNA sequence 5'-GGCGGTAAGTGG-3'.\n\nOpen Targets scores its association with cancer at 0.60 (direct and indirect evidence; datatypes literature 0.84, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5056","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5056"},{"label":"UniProt P31314","url":"https://www.uniprot.org/uniprotkb/P31314/entry"},{"label":"NCBI Gene 3195","url":"https://www.ncbi.nlm.nih.gov/gene/3195"},{"label":"Ensembl ENSG00000107807","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107807"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TLX1","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:5056","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5056","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31314","url":"https://www.uniprot.org/uniprotkb/P31314/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107807","url":"https://platform.opentargets.org/target/ENSG00000107807/associations","note":"association with cancer (MONDO_0004992) 0.60;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:5056","ensembl":"ENSG00000107807","uniprot":"P31314","entrez":"3195","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lu et al, EMBO J, 1991, \"The tcl-3 proto-oncogene altered by chromosomal translocation in T-cell leukemia codes for a homeobox protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1717256/","biology":"Controls the genesis of the spleen. Binds to the DNA sequence 5'-GGCGGTAAGTGG-3'. Location: Nucleus (UniProt). Locus 10q24.31 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"tlx3","kind":"target","name":"TLX3","aka":["T cell leukemia homeobox 3","T-cell leukemia homeobox protein 3","HOX11L2"],"tldr":"TLX3 (T-cell leukaemia homeobox protein 3) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"UniProt has no function text for O43711; HGNC names it \"T cell leukaemia homeobox 3\".\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.73, genetic association 0.16, somatic mutation 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13532","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13532"},{"label":"UniProt O43711","url":"https://www.uniprot.org/uniprotkb/O43711/entry"},{"label":"NCBI Gene 30012","url":"https://www.ncbi.nlm.nih.gov/gene/30012"},{"label":"Ensembl ENSG00000164438","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164438"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TLX3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:13532","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13532","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43711","url":"https://www.uniprot.org/uniprotkb/O43711/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000164438","url":"https://platform.opentargets.org/target/ENSG00000164438/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:13532","ensembl":"ENSG00000164438","uniprot":"O43711","entrez":"30012","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Delgado et al, 1998, \"Genomic characterization of the human and mouse HOX11L2 genes\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/O43711/entry","biology":"UniProt has no function text for O43711; HGNC names it \"T cell leukaemia homeobox 3\". Location: Nucleus (UniProt). Locus 5q35.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"tmem127","kind":"target","name":"TMEM127","aka":["transmembrane protein 127","Transmembrane protein 127","FLJ20507","FLJ22257"],"tldr":"TMEM127 (Transmembrane protein 127) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Neuroendocrine tumours and Melanoma.","summary":"Controls cell proliferation acting as a negative regulator of TOR signalling pathway mediated by mTORC1. May act as a tumour suppressor.\n\nOpen Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes genetic literature 0.79, literature 0.19, genetic association 0.59, somatic mutation 0.93, animal model 0.47).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26038","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26038"},{"label":"UniProt O75204","url":"https://www.uniprot.org/uniprotkb/O75204/entry"},{"label":"NCBI Gene 55654","url":"https://www.ncbi.nlm.nih.gov/gene/55654"},{"label":"Ensembl ENSG00000135956","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135956"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TMEM127","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:26038","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26038","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75204","url":"https://www.uniprot.org/uniprotkb/O75204/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135956","url":"https://platform.opentargets.org/target/ENSG00000135956/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: melanoma 0.51, neuroendocrine neoplasm 0.78 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:26038","ensembl":"ENSG00000135956","uniprot":"O75204","entrez":"55654","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Loftus B.J. et al, Genomics, 1999, \"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10493829/","biology":"Controls cell proliferation acting as a negative regulator of TOR signalling pathway mediated by mTORC1. May act as a tumour suppressor. Location: Cell membrane; Cytoplasm (UniProt). Locus 2q11.2 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.78 with neuroendocrine neoplasm (MONDO_0019496)","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)"],"targetClass":"other","prevalence":[]},{"id":"tmem17","kind":"target","name":"TMEM17","aka":["transmembrane protein 17","Transmembrane protein 17","FLJ34583"],"tldr":"TMEM17 (Transmembrane protein 17) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Transmembrane component of the tectonic-like complex, a complex localised at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signalling.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26623","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26623"},{"label":"UniProt Q86X19","url":"https://www.uniprot.org/uniprotkb/Q86X19/entry"},{"label":"NCBI Gene 200728","url":"https://www.ncbi.nlm.nih.gov/gene/200728"},{"label":"Ensembl ENSG00000186889","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186889"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TMEM17","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:26623","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26623","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86X19","url":"https://www.uniprot.org/uniprotkb/Q86X19/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000186889","url":"https://platform.opentargets.org/target/ENSG00000186889/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: prostate cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:26623","ensembl":"ENSG00000186889","uniprot":"Q86X19","entrez":"200728","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Transmembrane component of the tectonic-like complex, a complex localised at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signalling. Location: Cell projection, cilium membrane (UniProt). Locus 2p15 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"tmem238l","kind":"target","name":"TMEM238L","aka":["transmembrane protein 238 like","Transmembrane protein 238-like","FORCP","LINC00675"],"tldr":"TMEM238L (Transmembrane protein 238-like) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Colorectal cancer.","summary":"May play a role in inducing apoptosis during endoplasmic reticulum (ER) stress and in the inhibition of proliferation and tumorigenicity.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.90, genetic association 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:44356","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:44356"},{"label":"UniProt A6NJY4","url":"https://www.uniprot.org/uniprotkb/A6NJY4/entry"},{"label":"NCBI Gene 100289255","url":"https://www.ncbi.nlm.nih.gov/gene/100289255"},{"label":"Ensembl ENSG00000263429","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000263429"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TMEM238L","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:44356","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:44356","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt A6NJY4","url":"https://www.uniprot.org/uniprotkb/A6NJY4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000263429","url":"https://platform.opentargets.org/target/ENSG00000263429/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: colorectal cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:44356","ensembl":"ENSG00000263429","uniprot":"A6NJY4","entrez":"100289255","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"May play a role in inducing apoptosis during endoplasmic reticulum (ER) stress and in the inhibition of proliferation and tumorigenicity. Location: Endoplasmic reticulum membrane (UniProt). Locus 17p13.1-p12 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575)"],"targetClass":"other","prevalence":[]},{"id":"tmprss2","kind":"target","name":"TMPRSS2","aka":["transmembrane serine protease 2","Transmembrane protease serine 2","PRSS10"],"tldr":"TMPRSS2 (Transmembrane protease serine 2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer.","summary":"Plasma membrane-anchored serine protease that cleaves at arginine residues. Participates in proteolytic cascades of relevance for the normal physiologic function of the prostate. Androgen-induced TMPRSS2 activates several substrates that include pro-hepatocyte growth factor/HGF, the protease activated receptor-2/F2RL1 or matriptase/ST14 leading to extracellular matrix disruption and metastasis of prostate cancer cells.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes affected pathway 0.76, literature 0.99, genetic association 0.66, somatic mutation 0.77, animal model 0.28). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11876","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11876"},{"label":"UniProt O15393","url":"https://www.uniprot.org/uniprotkb/O15393/entry"},{"label":"NCBI Gene 7113","url":"https://www.ncbi.nlm.nih.gov/gene/7113"},{"label":"Ensembl ENSG00000184012","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184012"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TMPRSS2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11876","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11876","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15393","url":"https://www.uniprot.org/uniprotkb/O15393/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184012","url":"https://platform.opentargets.org/target/ENSG00000184012/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: prostate cancer 0.72 (GraphQL API, CC0)"},{"label":"IntOGen TMPRSS2","url":"https://www.intogen.org/search?gene=TMPRSS2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11876","ensembl":"ENSG00000184012","uniprot":"O15393","entrez":"7113","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Paoloni-Giacobino et al, Genomics, 1997, \"Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9325052/","biology":"Plasma membrane-anchored serine protease that cleaves at arginine residues. Participates in proteolytic cascades of relevance for the normal physiologic function of the prostate. Androgen-induced TMPRSS2 activates several substrates that include pro-hepatocyte growth factor/HGF, the protease activated receptor-2/F2RL1 or matriptase/ST14 leading to extracellular matrix disruption and metastasis of prostate cancer cells. In addition, activates trigeminal neurons and contribute to both spontaneous pain and mechanical allodynia. The cleavage of SARS-COV2 spike glycoprotein occurs between the S2 and S2' site. Upon SARS-CoV-2 infection, increases syncytia formation by accelerating the fusion process. Location: Cell membrane; Secreted (UniProt). Locus 21q22.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.72 with prostate cancer (MONDO_0008315); IntOGen driver in 1 cohort (PRAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"tmsb4x","kind":"target","name":"TMSB4X","aka":["thymosin beta 4 X-linked","Thymosin beta-4","TB4X","TMSB4"],"tldr":"TMSB4X (Thymosin beta-4) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma and Diffuse large B-cell lymphoma.","summary":"Plays an important role in the organisation of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerisation. Potent inhibitor of bone marrow derived stem cell differentiation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 6 cohorts (1 activating, 5 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11881","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11881"},{"label":"UniProt P62328","url":"https://www.uniprot.org/uniprotkb/P62328/entry"},{"label":"NCBI Gene 7114","url":"https://www.ncbi.nlm.nih.gov/gene/7114"},{"label":"Ensembl ENSG00000205542","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000205542"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TMSB4X","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11881","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11881","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62328","url":"https://www.uniprot.org/uniprotkb/P62328/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TMSB4X","url":"https://civicdb.org/features/5814","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000205542","url":"https://platform.opentargets.org/target/ENSG00000205542/associations","note":"per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.53, non-Hodgkin lymphoma 0.58 (GraphQL API, CC0)"},{"label":"IntOGen TMSB4X","url":"https://www.intogen.org/search?gene=TMSB4X","note":"driver in 6 cohorts (Act 1, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TMSB4X: RNA low tissue specificity; high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P62328","url":"https://www.uniprot.org/uniprotkb/P62328/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TMSB4X","url":"https://civicdb.org/features/5814","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen TMSB4X","url":"https://www.intogen.org/search?gene=TMSB4X","note":"driver in 6 cohorts (Act 1, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TMSB4X tissue","url":"https://www.proteinatlas.org/ENSG00000205542-TMSB4X/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000205542 associations","url":"https://platform.opentargets.org/target/ENSG00000205542/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11881","ensembl":"ENSG00000205542","uniprot":"P62328","entrez":"7114","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Friedman R.L. et al, Cell, 1984, \"Transcriptional and posttranscriptional regulation of interferon-induced gene expression in human cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6548414/","biology":"Plays an important role in the organisation of the cytoskeleton. Binds to and sequesters actin monomers (G actin) and therefore inhibits actin polymerisation. Potent inhibitor of bone marrow derived stem cell differentiation. Acts by inhibits the entry of haematopoietic pluripotent stem cells into the S-phase. Location: Cytoplasm, cytoskeleton (UniProt). Locus Xp22.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.58 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Diffuse large B-cell lymphoma: Open Targets association 0.53 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tnc","kind":"target","name":"TNC","aka":["tenascin C","Tenascin","MGC167029","DFNA56"],"tldr":"TNC (Tenascin) is a gene that drives cell growth when it is altered. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Pancreatic ductal adenocarcinoma, Adrenocortical carcinoma, Bladder & urothelial cancer and 5 more.","summary":"Extracellular matrix protein implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity as well as neuronal regeneration. Promotes neurite outgrowth from cortical neurons grown on a monolayer of astrocytes. Ligand for integrins alpha-8/beta-1, alpha-9/beta-1, alpha-V/beta-3 and alpha-V/beta-6.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Gemcitabine. IntOGen calls it a driver in 7 cohorts (5 activating, 2 loss-of-function), covering Adrenocortical Carcinoma, Acute Myeloid Leukaemia, Bladder/Urinary Tract, Lung Squamous Cell Carcinoma, Malignant Lymphoma, Neuroblastoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5318","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5318"},{"label":"UniProt P24821","url":"https://www.uniprot.org/uniprotkb/P24821/entry"},{"label":"NCBI Gene 3371","url":"https://www.ncbi.nlm.nih.gov/gene/3371"},{"label":"Ensembl ENSG00000041982","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000041982"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["pancreatic","adrenocortical","urothelial","non-hodgkin-lymphoma","ovarian","aml","nsclc","neuroblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TNC","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5318","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5318","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P24821","url":"https://www.uniprot.org/uniprotkb/P24821/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TNC","url":"https://civicdb.org/features/2822","note":"2 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Cancer (GraphQL API, CC0)"},{"label":"IntOGen TNC","url":"https://www.intogen.org/search?gene=TNC","note":"driver in 7 cohorts (Act 5, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TNC: RNA tissue enhanced (blood vessel 346 nTPM, smooth muscle 447 nTPM); no normal tissue stained high. Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Pancreatic ductal adenocarcinoma, Adrenocortical carcinoma, Bladder & urothelial cancer, Lymphoma, Ovarian cancer, Leukaemia, Lung cancer (all types) and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P24821","url":"https://www.uniprot.org/uniprotkb/P24821/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TNC","url":"https://civicdb.org/features/2822","note":"2 evidence items, 0 assertions, 1 variants; diseases: Pancreatic Cancer (GraphQL API, CC0)"},{"label":"IntOGen TNC","url":"https://www.intogen.org/search?gene=TNC","note":"driver in 7 cohorts (Act 5, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TNC tissue","url":"https://www.proteinatlas.org/ENSG00000041982-TNC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000041982 associations","url":"https://platform.opentargets.org/target/ENSG00000041982/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5318","ensembl":"ENSG00000041982","uniprot":"P24821","entrez":"3371","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gulcher J.R. et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"An alternatively spliced region of the human hexabrachion contains a repeat of potential N-glycosylation sites\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2466295/","biology":"Extracellular matrix protein implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity as well as neuronal regeneration. Promotes neurite outgrowth from cortical neurons grown on a monolayer of astrocytes. Ligand for integrins alpha-8/beta-1, alpha-9/beta-1, alpha-V/beta-3 and alpha-V/beta-6. In tumours, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 9q33.1 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Adrenocortical carcinoma: IntOGen driver in 1 cohort (ACC)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLADDER)","Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (MLYM)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"tnfaip3","kind":"target","name":"TNFAIP3","aka":["TNF alpha induced protein 3","Tumor necrosis factor alpha-induced protein 3","A20","OTUD7C"],"tldr":"TNFAIP3 (Tumour necrosis factor alpha-induced protein 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Skin cancer and 2 more.","summary":"Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signalled by cytokines, such as TNF and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signalling pathways.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.98, animal model 0.53, genetic association 0.06, somatic mutation 0.95). IntOGen calls it a driver in 3 cohorts (0 activating, 3 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11896","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11896"},{"label":"UniProt P21580","url":"https://www.uniprot.org/uniprotkb/P21580/entry"},{"label":"NCBI Gene 7128","url":"https://www.ncbi.nlm.nih.gov/gene/7128"},{"label":"Ensembl ENSG00000118503","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000118503"},{"label":"Liu et al., Gastroenterology 2002: t(11;18) marks gastric MALT lymphomas that will not respond to Helicobacter pylori eradication (111 patients)","url":"https://doi.org/10.1053/gast.2002.33047"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","skin-cancer","dlbcl","marginal-zone-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["inflammation-nfkb","microbiome-tumour"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, t(11;18) API2-MALT1 and the NF-kB lesions of marginal zone lymphoma: Gastric MALT lymphoma begins as a Helicobacter-driven proliferation that still needs the antigen; removing the bacterium removes the stimulus and the lymphoma regresses. The t(11;18) fuses API2 to MALT1 and produces a protein that activates NF-kB on its own, so the lymphoma no longer needs the antigen and no longer cares whether the bacterium is still there. The related translocations, t(1;14) involving BCL10 and t(14;18) involving MALT1, do the same job by a different route, and inactivation of TNFAIP3 removes the brake. Frequency: Among 111 patients with Helicobacter-positive gastric MALT lymphoma treated with antibiotics, the translocation separated the responders from the non-responders: 47 of the 48 patients who regressed completely were negative for the API2-MALT1 transcript (Liu 2002). What it changes about treatment: Yes, and this is one of the few places where a translocation result changes the first decision. A t(11;18)-positive gastric MALT lymphoma should not be treated with eradication alone, whatever the stage; a negative one usually can be."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TNFAIP3","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11896","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11896","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P21580","url":"https://www.uniprot.org/uniprotkb/P21580/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TNFAIP3","url":"https://civicdb.org/features/5828","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000118503","url":"https://platform.opentargets.org/target/ENSG00000118503/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.65, non-Hodgkin lymphoma 0.69, skin cancer 0.53, leukaemia 0.54, marginal zone lymphoma 0.52 (GraphQL API, CC0)"},{"label":"IntOGen TNFAIP3","url":"https://www.intogen.org/search?gene=TNFAIP3","note":"driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TNFAIP3: RNA tissue enhanced (bone marrow 394 nTPM, urinary bladder 146 nTPM); high antibody staining in 2 normal tissues. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Leukaemia, Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P21580","url":"https://www.uniprot.org/uniprotkb/P21580/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TNFAIP3","url":"https://civicdb.org/features/5828","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen TNFAIP3","url":"https://www.intogen.org/search?gene=TNFAIP3","note":"driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TNFAIP3 tissue","url":"https://www.proteinatlas.org/ENSG00000118503-TNFAIP3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000118503 associations","url":"https://platform.opentargets.org/target/ENSG00000118503/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11896","ensembl":"ENSG00000118503","uniprot":"P21580","entrez":"7128","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Opipari A.W. Jr. et al, J. Biol. Chem, 1990, \"The A20 cDNA induced by tumor necrosis factor alpha encodes a novel type of zinc finger protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2118515/","biology":"Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signalled by cytokines, such as TNF and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signalling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in IL-1R and TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2 and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3. In cooperation with TAX1BP1 promotes ubiquitination of UBE2N and proteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation, deubiquitinates 'Lys-63'-polyubiquitin chains on RIPK1 and catalyses the formation of 'Lys-48'-polyubiquitin chains. Location: Cytoplasm; Nucleus; Lysosome (UniProt). Locus 6q23.3 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.69 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: Open Targets association 0.65 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease","Marginal zone lymphoma: Open Targets association 0.52 with marginal zone lymphoma (MONDO_0017604)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tnfrsf10b","kind":"target","name":"TNFRSF10B","aka":["TNF receptor superfamily member 10b","Tumor necrosis factor receptor superfamily member 10B","DR5","KILLER","TRICK2A","TRAIL-R2","TRICKB","CD262","TRAILR2"],"tldr":"TNFRSF10B (Tumour necrosis factor receptor superfamily member 10B) is a gene. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Receptor for the cytotoxic ligand TNFSF10/TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signalling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes genetic literature 0.30, clinical 0.20, literature 0.98, genetic association 0.79, animal model 0.27).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11905","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11905"},{"label":"UniProt O14763","url":"https://www.uniprot.org/uniprotkb/O14763/entry"},{"label":"NCBI Gene 8795","url":"https://www.ncbi.nlm.nih.gov/gene/8795"},{"label":"Ensembl ENSG00000120889","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000120889"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["extrinsic-apoptosis-death-receptors"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.20. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TNFRSF10B","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11905","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11905","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14763","url":"https://www.uniprot.org/uniprotkb/O14763/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000120889","url":"https://platform.opentargets.org/target/ENSG00000120889/associations","note":"association with cancer (MONDO_0004992) 0.64;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TNFRSF10B: RNA low tissue specificity; high antibody staining in 27 normal tissues; highest cancer staining liver cancer (3 of 12 high). Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 1 specific cancer type at or above 0.5 (basal cell carcinoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TNFRSF10B tissue","url":"https://www.proteinatlas.org/ENSG00000120889-TNFRSF10B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000120889 associations","url":"https://platform.opentargets.org/target/ENSG00000120889/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11905","ensembl":"ENSG00000120889","uniprot":"O14763","entrez":"8795","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Screaton G.R. et al, Curr. Biol, 1997, \"TRICK2, a new alternatively spliced receptor that transduces the cytotoxic signal from TRAIL\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9285725/","biology":"Receptor for the cytotoxic ligand TNFSF10/TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signalling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. Essential for ER stress-induced apoptosis. Location: Membrane (UniProt). Locus 8p21.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"tnfrsf13b","kind":"target","name":"TNFRSF13B","aka":["TNF receptor superfamily member 13B","Tumor necrosis factor receptor superfamily member 13B","CD267","IGAD2"],"tldr":"TNFRSF13B (Tumour necrosis factor receptor superfamily member 13B) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Multiple myeloma.","summary":"Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.93, animal model 0.48, genetic association 0.71).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18153","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18153"},{"label":"UniProt O14836","url":"https://www.uniprot.org/uniprotkb/O14836/entry"},{"label":"NCBI Gene 23495","url":"https://www.ncbi.nlm.nih.gov/gene/23495"},{"label":"Ensembl ENSG00000240505","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000240505"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TNFRSF13B","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18153","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18153","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O14836","url":"https://www.uniprot.org/uniprotkb/O14836/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000240505","url":"https://platform.opentargets.org/target/ENSG00000240505/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: plasma cell myeloma 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:18153","ensembl":"ENSG00000240505","uniprot":"O14836","entrez":"23495","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: von Buelow G.-U. et al, Science, 1997, \"NF-AT activation induced by a CAML-interacting member of the tumor necrosis factor receptor superfamily\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9311921/","biology":"Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin-dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity. Location: Membrane (UniProt). Locus 17p11.2 (HGNC).","whereFound":["Multiple myeloma: Open Targets association 0.56 with plasma cell myeloma (MONDO_0009693)"],"targetClass":"other","prevalence":[]},{"id":"tnfrsf14","kind":"target","name":"TNFRSF14","aka":["TNF receptor superfamily member 14","Tumor necrosis factor receptor superfamily member 14","TR2","LIGHTR","CD270"],"tldr":"TNFRSF14 (Tumour necrosis factor receptor superfamily member 14) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Lung cancer, Skin cancer and 1 more.","summary":"Receptor for four distinct ligands: The TNF superfamily members TNFSF14/LIGHT and homotrimeric LTA/lymphotoxin-alpha and the immunoglobulin superfamily members BTLA and CD160, altogether defining a complex stimulatory and inhibitory signalling network. Signals via the TRAF2-TRAF3 E3 ligase pathway to promote immune cell survival and differentiation. Participates in bidirectional cell-cell contact signalling between antigen presenting cells and lymphocytes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.92, animal model 0.27, genetic association 0.00, somatic mutation 0.95). IntOGen calls it a driver in 5 cohorts (0 activating, 5 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11912","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11912"},{"label":"UniProt Q92956","url":"https://www.uniprot.org/uniprotkb/Q92956/entry"},{"label":"NCBI Gene 8764","url":"https://www.ncbi.nlm.nih.gov/gene/8764"},{"label":"Ensembl ENSG00000157873","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000157873"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","lung-cancer","skin-cancer","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TNFRSF14","role":["tumour-suppressor","biomarker","immune-checkpoint"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11912","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11912","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92956","url":"https://www.uniprot.org/uniprotkb/Q92956/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TNFRSF14","url":"https://civicdb.org/features/6945","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000157873","url":"https://platform.opentargets.org/target/ENSG00000157873/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: diffuse large B-cell lymphoma 0.63, non-Hodgkin lymphoma 0.68, skin cancer 0.51, lung cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen TNFRSF14","url":"https://www.intogen.org/search?gene=TNFRSF14","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TNFRSF14: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining lymphoma (6 of 10 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Lung cancer (all types), Skin cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q92956","url":"https://www.uniprot.org/uniprotkb/Q92956/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TNFRSF14","url":"https://civicdb.org/features/6945","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen TNFRSF14","url":"https://www.intogen.org/search?gene=TNFRSF14","note":"driver in 5 cohorts (Act 0, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas TNFRSF14 tissue","url":"https://www.proteinatlas.org/ENSG00000157873-TNFRSF14/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000157873 associations","url":"https://platform.opentargets.org/target/ENSG00000157873/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11912","ensembl":"ENSG00000157873","uniprot":"Q92956","entrez":"8764","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Montgomery R.I. et al, Cell, 1996, \"Herpes simplex virus-1 entry into cells mediated by a novel member of the TNF/NGF receptor family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8898196/","biology":"Receptor for four distinct ligands: The TNF superfamily members TNFSF14/LIGHT and homotrimeric LTA/lymphotoxin-alpha and the immunoglobulin superfamily members BTLA and CD160, altogether defining a complex stimulatory and inhibitory signalling network. Signals via the TRAF2-TRAF3 E3 ligase pathway to promote immune cell survival and differentiation. Participates in bidirectional cell-cell contact signalling between antigen presenting cells and lymphocytes. In response to ligation of TNFSF14/LIGHT, delivers costimulatory signals to T cells, promoting cell proliferation and effector functions. Interacts with CD160 on NK cells, enhancing IFNG production and anti-tumour immune response. In the context of bacterial infection, acts as a signalling receptor on epithelial cells for CD160 from intraepithelial lymphocytes, triggering the production of antimicrobial proteins and pro-inflammatory cytokines. Location: Cell membrane (UniProt). Locus 1p36.32 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.68 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: Open Targets association 0.63 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tnfsf10","kind":"target","name":"TNFSF10","aka":["TNF superfamily member 10","Tumor necrosis factor ligand superfamily member 10","TRAIL","Apo-2L","TL2","CD253","TANCR"],"tldr":"TNFSF10 (Tumour necrosis factor ligand superfamily member 10) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG. Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 1.00, affected pathway 0.25, genetic association 0.62).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11925","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11925"},{"label":"UniProt P50591","url":"https://www.uniprot.org/uniprotkb/P50591/entry"},{"label":"NCBI Gene 8743","url":"https://www.ncbi.nlm.nih.gov/gene/8743"},{"label":"Ensembl ENSG00000121858","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121858"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["extrinsic-apoptosis-death-receptors"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TNFSF10","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11925","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11925","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50591","url":"https://www.uniprot.org/uniprotkb/P50591/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000121858","url":"https://platform.opentargets.org/target/ENSG00000121858/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11925","ensembl":"ENSG00000121858","uniprot":"P50591","entrez":"8743","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wiley S.R. et al, Immunity, 1995, \"Identification and characterization of a new member of the TNF family that induces apoptosis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8777713/","biology":"Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG. Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis. Location: Cell membrane; Secreted (UniProt). Locus 3q26.31 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"tns1","kind":"target","name":"TNS1","aka":["tensin 1","Tensin-1","DKFZp586K0617","PPP1R155","MXRA6"],"tldr":"TNS1 (Tensin-1) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"May act as a protein phosphatase and/or a lipid phosphatase. Involved in fibrillar adhesion formation. Essential for myofibroblast differentiation and myofibroblast-mediated extracellular matrix deposition.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.91, animal model 0.39, genetic association 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11973","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11973"},{"label":"UniProt Q9HBL0","url":"https://www.uniprot.org/uniprotkb/Q9HBL0/entry"},{"label":"NCBI Gene 7145","url":"https://www.ncbi.nlm.nih.gov/gene/7145"},{"label":"Ensembl ENSG00000079308","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000079308"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TNS1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11973","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11973","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HBL0","url":"https://www.uniprot.org/uniprotkb/Q9HBL0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000079308","url":"https://platform.opentargets.org/target/ENSG00000079308/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11973","ensembl":"ENSG00000079308","uniprot":"Q9HBL0","entrez":"7145","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen et al, Biochem. J, 2000, \"Molecular characterization of human tensin\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11023826/","biology":"May act as a protein phosphatase and/or a lipid phosphatase. Involved in fibrillar adhesion formation. Essential for myofibroblast differentiation and myofibroblast-mediated extracellular matrix deposition. Enhances RHOA activation in the presence of DLC1. Plays a role in cell polarisation and migration. May be involved in cartilage development and in linking signal transduction pathways to the cytoskeleton. Location: Cell surface; Cell junction, focal adhesion; Cytoplasm, cytoskeleton (UniProt). Locus 2q35 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"tns3","kind":"target","name":"TNS3","aka":["tensin 3","Tensin-3","TEM6","H_NH0549I23.2","FLJ13732","TENS1"],"tldr":"TNS3 (Tensin-3) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer and Basal cell carcinoma.","summary":"May act as a protein phosphatase and/or a lipid phosphatase. Involved in the dissociation of the integrin-tensin-actin complex. EGF activates TNS4 and down-regulates TNS3 which results in capping the tail of ITGB1.\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.80, animal model 0.31, genetic association 0.72).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21616","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21616"},{"label":"UniProt Q68CZ2","url":"https://www.uniprot.org/uniprotkb/Q68CZ2/entry"},{"label":"NCBI Gene 64759","url":"https://www.ncbi.nlm.nih.gov/gene/64759"},{"label":"Ensembl ENSG00000136205","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136205"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TNS3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:21616","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21616","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q68CZ2","url":"https://www.uniprot.org/uniprotkb/Q68CZ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136205","url":"https://platform.opentargets.org/target/ENSG00000136205/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: prostate cancer 0.52, basal cell carcinoma 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:21616","ensembl":"ENSG00000136205","uniprot":"Q68CZ2","entrez":"64759","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Carson-Walter E.B. et al, Cancer Res, 2001, \"Cell surface tumor endothelial markers are conserved in mice and humans\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11559528/","biology":"May act as a protein phosphatase and/or a lipid phosphatase. Involved in the dissociation of the integrin-tensin-actin complex. EGF activates TNS4 and down-regulates TNS3 which results in capping the tail of ITGB1. Increases DOCK5 guanine nucleotide exchange activity towards Rac and plays a role in osteoclast podosome organisation. Enhances RHOA activation in the presence of DLC1. Required for growth factor-induced epithelial cell migration; growth factor stimulation induces TNS3 phosphorylation which changes its binding preference from DLC1 to the p85 regulatory subunit of the PI3K kinase complex, displacing PI3K inhibitor PTEN and resulting in translocation of the TNS3-p85 complex to the leading edge of migrating cells to promote RAC1 activation. Location: Cell junction, focal adhesion; Cell projection, podosome (UniProt). Locus 7p12.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.52 with prostate cancer (MONDO_0008315)","Basal cell carcinoma: Open Targets association 0.51 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"enzyme","prevalence":[]},{"id":"toe1","kind":"target","name":"TOE1","aka":["target of EGR1, exonuclease","Target of EGR1 protein 1","hCaf1z","TOE-1"],"tldr":"TOE1 (Target of EGR1 protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.73, affected pathway 0.25, genetic association 0.77).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15954","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15954"},{"label":"UniProt Q96GM8","url":"https://www.uniprot.org/uniprotkb/Q96GM8/entry"},{"label":"NCBI Gene 114034","url":"https://www.ncbi.nlm.nih.gov/gene/114034"},{"label":"Ensembl ENSG00000132773","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000132773"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TOE1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:15954","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15954","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96GM8","url":"https://www.uniprot.org/uniprotkb/Q96GM8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000132773","url":"https://platform.opentargets.org/target/ENSG00000132773/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:15954","ensembl":"ENSG00000132773","uniprot":"Q96GM8","entrez":"114034","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: De Belle et al, J. Biol. Chem, 2003, \"In vivo cloning and characterization of a new growth suppressor protein TOE1 as a direct target gene of Egr1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12562764/","biology":"Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing. Location: Nucleus, nucleolus; Nucleus speckle (UniProt). Locus 1p34.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"tlr7","kind":"target","name":"Toll-like receptor 7 (TLR7)","aka":[],"tldr":"TLR7 is an innate immune sensor for viral RNA; the cream imiquimod switches it on to make the skin's immune cells attack superficial basal cell carcinoma.","summary":"Toll-like receptor 7 sits in the endosomes of plasmacytoid dendritic cells and other immune cells and recognises single-stranded RNA. Imiquimod is a synthetic TLR7 agonist applied as a cream: it triggers interferon-alpha and other cytokines locally, recruiting an immune response that clears superficial basal cell carcinoma, actinic keratoses and genital warts. TLR7 and TLR8 agonists are also being tested as injectable immune adjuvants in solid tumours.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/TLR7","links":[{"label":"UniProt Q9NYK1: TLR7","url":"https://www.uniprot.org/uniprotkb/Q9NYK1/entry"},{"label":"HGNC:15631 TLR7","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15631"},{"label":"ChEMBL target CHEMBL5936","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL5936"}],"tags":[],"related":[],"cancers":["basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":["imiquimod"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct07605962"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TLR7","role":[],"sources":[],"specificity":"immune-microenvironment","distribution":"one-type","specificityNote":"Immune or microenvironment target: its medicines act on immune, stromal or bone cells rather than on the tumour cell (drug mechanisms in the corpus). HPA TLR7: RNA tissue enhanced (placenta 6 nTPM); high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (actinic keratosis, basal cell carcinoma); the corpus evidence decides and the Open Targets list is quoted for comparison. (Rule 1 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TLR7 tissue","url":"https://www.proteinatlas.org/ENSG00000196664-TLR7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"UniProt Q9NYK1","url":"https://www.uniprot.org/uniprotkb/Q9NYK1/entry","note":"involvement in disease"},{"label":"Open Targets ENSG00000196664 associations","url":"https://platform.opentargets.org/target/ENSG00000196664/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:15631","ensembl":"ENSG00000196664","uniprot":"Q9NYK1","entrez":"51284","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Du et al, Eur. Cytokine Netw, 2000, \"Three novel mammalian Toll-like receptors: gene structure, expression, and evolution\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11022119/","biology":"An endosomal pattern-recognition receptor signalling through MyD88 to NF-kB and IRF7, driving type I interferon production.","whereFound":["Plasmacytoid dendritic cells and B cells","Skin immune cells activated by topical imiquimod"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"immune","measure":"Immune-cell target (innate immune sensor in skin and immune cells, switched on by imiquimod): expressed on immune cells rather than on the tumour, so patient selection rests on the cancer type and, in trials, on PD-L1 or immune biomarkers."}]},{"id":"top2b","kind":"target","name":"TOP2B","aka":["DNA topoisomerase II beta","DNA topoisomerase 2-beta","top2beta","TOPIIB"],"tldr":"TOP2B (DNA topoisomerase 2-beta) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Lung cancer, Neuroendocrine tumours, Breast cancer and 1 more.","summary":"Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand. Plays a role in B-cell differentiation.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.93, animal model 0.39, genetic association 0.45, clinical 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11990","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11990"},{"label":"UniProt Q02880","url":"https://www.uniprot.org/uniprotkb/Q02880/entry"},{"label":"NCBI Gene 7155","url":"https://www.ncbi.nlm.nih.gov/gene/7155"},{"label":"Ensembl ENSG00000077097","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077097"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer","neuroendocrine","breast-cancer","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.98. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TOP2B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:11990","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11990","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02880","url":"https://www.uniprot.org/uniprotkb/Q02880/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000077097","url":"https://platform.opentargets.org/target/ENSG00000077097/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: small cell lung carcinoma 0.56, neuroendocrine neoplasm 0.57, breast cancer 0.55, lung cancer 0.58 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TOP2B: RNA low tissue specificity; high antibody staining in 26 normal tissues; highest cancer staining carcinoid (3 of 3 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Neuroendocrine tumours, Breast cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (small cell lung carcinoma, breast cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TOP2B tissue","url":"https://www.proteinatlas.org/ENSG00000077097-TOP2B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000077097 associations","url":"https://platform.opentargets.org/target/ENSG00000077097/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11990","ensembl":"ENSG00000077097","uniprot":"Q02880","entrez":"7155","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chung T.D. et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"Characterization and immunological identification of cDNA clones encoding two human DNA topoisomerase II isozymes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2556712/","biology":"Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand. Plays a role in B-cell differentiation. Location: Nucleus, nucleolus; Nucleus, nucleoplasm; Nucleus (UniProt). Locus 3p24.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.58 with lung cancer (MONDO_0008903)","Neuroendocrine tumours: Open Targets association 0.57 with neuroendocrine neoplasm (MONDO_0019496)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Small-cell lung cancer: Open Targets association 0.56 with small cell lung carcinoma (MONDO_0008433)"],"targetClass":"enzyme","prevalence":[]},{"id":"top3a","kind":"target","name":"TOP3A","aka":["DNA topoisomerase III alpha","DNA topoisomerase 3-alpha","ZGRF7","TOP3"],"tldr":"TOP3A (DNA topoisomerase 3-alpha) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.83, affected pathway 0.87, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11992","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11992"},{"label":"UniProt Q13472","url":"https://www.uniprot.org/uniprotkb/Q13472/entry"},{"label":"NCBI Gene 7156","url":"https://www.ncbi.nlm.nih.gov/gene/7156"},{"label":"Ensembl ENSG00000177302","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000177302"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TOP3A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11992","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11992","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13472","url":"https://www.uniprot.org/uniprotkb/Q13472/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000177302","url":"https://platform.opentargets.org/target/ENSG00000177302/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11992","ensembl":"ENSG00000177302","uniprot":"Q13472","entrez":"7156","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hanai et al, Proc. Natl. Acad. Sci. U.S.A, 1996, \"Human TOP3: a single-copy gene encoding DNA topoisomerase III\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8622991/","biology":"Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone. As an essential component of the RMI complex it is involved in chromosome separation and the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Location: Mitochondrion matrix (UniProt). Locus 17p11.2 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"top1","kind":"target","name":"Topoisomerase I (TOP1)","aka":[],"tldr":"The enzyme that nicks one DNA strand to relieve twisting while DNA is copied. Camptothecins and the payloads of several antibody-drug conjugates trap it on the DNA so the nick becomes a permanent break when the cell replicates.","summary":"Topoisomerase I relaxes supercoiled DNA by cutting one strand, letting it rotate and resealing it. Camptothecin derivatives such as irinotecan, topotecan, SN-38, DXd and exatecan bind the enzyme-DNA complex and stop the reseal step, so replication forks collide with the trapped complex and create double-strand breaks. The same chemistry is the payload of sacituzumab govitecan, trastuzumab deruxtecan and datopotamab deruxtecan, which explains their shared toxicities of neutropenia and diarrhoea and the cross-resistance seen when one topoisomerase I antibody-drug conjugate follows another.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/TOP1","links":[{"label":"UniProt P11387: TOP1","url":"https://www.uniprot.org/uniprotkb/P11387/entry"}],"tags":[],"related":[],"cancers":["colorectal","sclc","tnbc","breast-her2-positive"],"sections":[],"technologies":[],"targets":[],"drugs":["irinotecan","topotecan","sacituzumab-govitecan","trastuzumab-deruxtecan"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct06797999"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TOP1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"many-types","tumourAgnostic":true,"specificityNote":"Broadly expressed or essential: HPA lists TOP1 among essential proteins and finds the RNA at low tissue specificity; the 4 medicines aimed at it (Irinotecan (and liposomal irinotecan), Topotecan, Sacituzumab govitecan and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA TOP1: RNA low tissue specificity; high antibody staining in 27 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types), Breast cancer (all types)); approvals of single-target medicines aimed at it also list Bladder & urothelial cancer, Gastric & gastro-oesophageal junction cancer, Oesophageal cancer, Salivary gland cancers and more, not counted; Open Targets associates it with 7 specific cancer types at or above 0.5 (small cell lung carcinoma, breast cancer, non-small cell lung carcinoma, cervical cancer, colorectal cancer, ovarian cancer and more). Tissue-agnostic: Trastuzumab deruxtecan US 2024: \"HER2 IHC3+ solid tumours (tumour-agnostic)\". (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TOP1 tissue","url":"https://www.proteinatlas.org/ENSG00000198900-TOP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198900 associations","url":"https://platform.opentargets.org/target/ENSG00000198900/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11986","ensembl":"ENSG00000198900","uniprot":"P11387","entrez":"7150","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: D'Arpa et al, Proc. Natl. Acad. Sci. U.S.A, 1988, \"cDNA cloning of human DNA topoisomerase I: catalytic activity of a 67.7-kDa carboxyl-terminal fragment\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2833744/","biology":"Type IB topoisomerase that relieves torsional stress during replication and transcription; trapped as a covalent cleavage complex by camptothecins.","whereFound":["Expressed in all dividing cells; relevant wherever camptothecin or topoisomerase I payload drugs are used"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (DNA unwinding during replication); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"top2a","kind":"target","name":"Topoisomerase II alpha (TOP2A)","aka":[],"tldr":"The enzyme that cuts both DNA strands to untangle chromosomes before cell division. Etoposide and the anthracyclines hold it in the cut state, filling dividing cells with double-strand breaks.","summary":"Topoisomerase II alpha passes one DNA double helix through a transient break in another, decatenating replicated chromosomes and relaxing supercoils; its expression peaks in proliferating cells. Etoposide and anthracyclines such as doxorubicin stabilise the covalent enzyme-DNA complex, converting a normal catalytic step into lasting double-strand breaks. Etoposide is central to small-cell lung cancer, germ cell tumour and lymphoma regimens; anthracyclines to breast cancer, lymphoma and sarcoma regimens. Therapy-related leukaemia with KMT2A rearrangement and anthracycline cardiotoxicity are the class hazards.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/TOP2A","links":[{"label":"UniProt P11388: TOP2A","url":"https://www.uniprot.org/uniprotkb/P11388/entry"}],"tags":[],"related":[],"cancers":["sclc","testicular","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":["etoposide","doxorubicin"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TOP2A","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists TOP2A among essential proteins; the 8 medicines aimed at it (Etoposide, Doxorubicin, Aldoxorubicin and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA TOP2A: RNA tissue enhanced (lymphoid tissue 119 nTPM, testis 62 nTPM); high antibody staining in 6 normal tissues; highest cancer staining testis cancer (12 of 12 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Testicular germ cell tumours, Lymphoma); approvals of single-target medicines aimed at it also list Sarcomas (soft tissue, bone, GIST), Neuroendocrine tumours, Childhood cancers (all types), Gestational trophoblastic neoplasia and more, not counted; Open Targets associates it with 15 specific cancer types at or above 0.5 (breast cancer, acute myeloid leukemia, plasma cell myeloma, small cell lung carcinoma, Kaposi's sarcoma, Hodgkins lymphoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TOP2A tissue","url":"https://www.proteinatlas.org/ENSG00000131747-TOP2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000131747 associations","url":"https://platform.opentargets.org/target/ENSG00000131747/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11989","ensembl":"ENSG00000131747","uniprot":"P11388","entrez":"7153","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tsai-Pflugfelder et al, Proc. Natl. Acad. Sci. U.S.A, 1988, \"Cloning and sequencing of cDNA encoding human DNA topoisomerase II and localization of the gene to chromosome region 17q21-22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2845399/","biology":"Type IIA topoisomerase, proliferation-associated isoform; poisoned by etoposide and anthracyclines into a stable cleavage complex.","whereFound":["Proliferating tumour cells; TOP2A amplification in a subset of HER2-positive breast cancers"],"targetClass":"enzyme","prevalence":[{"cancerId":"breast-her2-positive","pct":"about 35","measure":"TOP2A co-amplification with HER2, FISH, 4,943 breast cancers analysed","source":"https://doi.org/10.1200/JCO.2009.27.5644","note":"Co-amplified tumours gained most from anthracycline-containing chemotherapy"}]},{"id":"tox","kind":"target","name":"TOX","aka":["thymocyte selection associated high mobility group box","Thymocyte selection-associated high mobility group box protein TOX","KIAA0808","TOX1"],"tldr":"TOX (Thymocyte selection-associated high mobility group box protein TOX) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"Transcriptional regulator with a major role in neural stem cell commitment and corticogenesis as well as in lymphoid cell development and lymphoid tissue organogenesis. Binds to GC-rich DNA sequences in the proximity of transcription start sites and may alter chromatin structure, modifying access of transcription factors to DNA. During cortical development, controls the neural stem cell pool by inhibiting the switch from proliferative to differentiating progenitors.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18988","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18988"},{"label":"UniProt O94900","url":"https://www.uniprot.org/uniprotkb/O94900/entry"},{"label":"NCBI Gene 9760","url":"https://www.ncbi.nlm.nih.gov/gene/9760"},{"label":"Ensembl ENSG00000198846","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198846"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["t-cell-exhaustion"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TOX","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18988","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18988","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O94900","url":"https://www.uniprot.org/uniprotkb/O94900/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TOX","url":"https://civicdb.org/features/7728","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TOX: RNA tissue enriched (lymphoid tissue 49 nTPM); blood lineage group enriched (granulocytes 22 nTPM, NK-cells 18 nTPM, T-cells 37 nTPM); high antibody staining in 5 normal tissues; highest cancer staining carcinoid (1 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TOX tissue","url":"https://www.proteinatlas.org/ENSG00000198846-TOX/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198846 associations","url":"https://platform.opentargets.org/target/ENSG00000198846/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18988","ensembl":"ENSG00000198846","uniprot":"O94900","entrez":"9760","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9872452/","biology":"Transcriptional regulator with a major role in neural stem cell commitment and corticogenesis as well as in lymphoid cell development and lymphoid tissue organogenesis. Binds to GC-rich DNA sequences in the proximity of transcription start sites and may alter chromatin structure, modifying access of transcription factors to DNA. During cortical development, controls the neural stem cell pool by inhibiting the switch from proliferative to differentiating progenitors. Beyond progenitor cells, promotes neurite outgrowth in newborn neurons migrating to reach the cortical plate. May activate or repress critical genes for neural stem cell fate such as SOX2, EOMES and ROBO2. Plays an essential role in the development of lymphoid tissue-inducer (LTi) cells, a subset necessary for the formation of secondary lymphoid organs: peripheral lymph nodes and Peyer's patches. Location: Nucleus (UniProt). Locus 8q12.1 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"tox3","kind":"target","name":"TOX3","aka":["TOX high mobility group box family member 3","CAGF9","TNRC9"],"tldr":"TOX3 (TOX high mobility group box family member 3) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.72).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11972","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11972"},{"label":"UniProt O15405","url":"https://www.uniprot.org/uniprotkb/O15405/entry"},{"label":"NCBI Gene 27324","url":"https://www.ncbi.nlm.nih.gov/gene/27324"},{"label":"Ensembl ENSG00000103460","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103460"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TOX3","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11972","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11972","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15405","url":"https://www.uniprot.org/uniprotkb/O15405/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000103460","url":"https://platform.opentargets.org/target/ENSG00000103460/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: breast cancer 0.57 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:11972","ensembl":"ENSG00000103460","uniprot":"O15405","entrez":"27324","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Margolis R.L. et al, Hum. Genet, 1997, \"cDNAs with long CAG trinucleotide repeats from human brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9225980/","biology":"Transcriptional coactivator of the p300/CBP-mediated transcription complex. Activates transactivation through cAMP response element (CRE) sites. Protects against cell death by inducing antiapoptotic and repressing pro-apoptotic transcripts. Stimulates transcription from the oestrogen-responsive or BCL-2 promoters. Required for depolarisation-induced transcription activation of the C-FOS promoter in neurons. Associates with chromatin to the oestrogen-responsive C3 promoter region. Location: Nucleus (UniProt). Locus 16q12.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"tp53","kind":"target","name":"TP53","aka":[],"tldr":"TP53 is the 'guardian of the genome', broken in half of all cancers. Fixing it directly has so far defeated every attempt, so drugs exploit what its loss makes cancers depend on.","summary":"TP53 is the most commonly mutated gene in cancer (~50% overall, ~80% in TNBC and ovarian). Direct reactivators (eprenetapopt/APR-246) failed in phase 3; Y220C-specific correctors (rezatapopt) are in registrational trials. Indirect strategies exploit G2/M checkpoint dependence (WEE1, ATR, PLK1) and MDM2 inhibition in TP53-wild-type tumours.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/P53","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/P53"},{"label":"Eskelund et al., Blood 2017: TP53 mutations in 183 younger mantle cell lymphoma patients from Nordic MCL2 and MCL3","url":"https://doi.org/10.1182/blood-2017-04-779736"},{"label":"Rossi et al., Blood 2011: the genetics of Richter syndrome in 86 pathologically proven cases","url":"https://doi.org/10.1182/blood-2010-09-302174"}],"tags":["tumour-suppressor","undrugged"],"related":["tp53-del17p"],"cancers":["tnbc","ovarian","sclc","aml","pancreatic","colorectal","gallbladder","nsclc","prostate","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":["ose2101","krt-232"],"companies":["bulsara-bioworks","nested-therapeutics","photys-therapeutics"],"institutions":[],"pathways":["p53-cell-cycle","ddr","basal-cell-carcinoma-signalling","breast-cancer-signalling","cml-signalling","colorectal-cancer-signalling","endometrial-cancer-signalling","gastric-cancer-signalling","hepatocellular-carcinoma-signalling","micrornas-in-cancer","nsclc-signalling","pancreatic-cancer-signalling","sclc-signalling","thyroid-cancer-signalling","p53-mdm2-axis","chromosomal-instability"],"terms":[],"trials":["nct07060989"],"people":[],"bottlenecks":[],"keyPapers":["paper-vogelstein-surfing-p53-network-nature-2000","paper-tcga-breast-molecular-portraits-nature-2012","paper-bareche-tnbc-multiomic-heterogeneity-ann-oncol-2018","paper-shah-tnbc-clonal-evolution-nature-2012","paper-philip-kras-wild-type-pancreatic-ccr-2022","paper-bailey-molecular-subtypes-pancreatic-nature-2016","paper-qian-driver-genes-outcomes-resected-pancreatic-jama-oncol-2018","paper-luchini-msi-dmmr-pancreatic-systematic-review-gut-2021","paper-vogelstein-genetic-alterations-colorectal-tumor-development-nejm-1988","paper-giraldo-gallbladder-msk-impact-ccr-2022","paper-javle-biliary-ngs-cancer-2016","paper-suryavanshi-indian-gallbladder-genomics-jco-go-2025","paper-li-gallbladder-exome-erbb-nat-genet-2014","paper-erices-chilean-gallbladder-landscape-front-oncol-2025","paper-nepal-gallbladder-microenvironment-subtypes-j-hepatol-2021","paper-alexandrov-tobacco-smoking-mutational-signatures-science-2016","paper-zhang-lung-cancer-never-smokers-nat-genet-2021","paper-tcga-lung-squamous-nature-2012","paper-george-sclc-genomic-profiles-nature-2015","paper-mateo-genomics-lethal-prostate-diagnosis-castration-resistance-jci-2020"],"journals":[],"dependsOn":[],"notes":["Triple-negative breast cancer: TP53 is mutated in about 80% of basal-like tumours (Cancer Genome Atlas 2012) and 79 to 90% of triple-negative samples across TCGA, METABRIC and MSK (cBioPortal), reaching 92% in the BL1 subtype (Bareche 2018); with RB1 loss it removes the G1 checkpoint that CDK4/6 inhibitors need.","Pancreatic ductal adenocarcinoma: mutated in 66 to 76% by cohort (cBioPortal), the second driver after KRAS; hotspots R175H, R248Q, R248W and R273H recur. It marks shorter disease-free but not overall survival after resection (hazard ratio 1.33; Qian 2018), and mismatch repair deficient tumours are typically KRAS and TP53 wild-type (Luchini 2021).","Colorectal cancer: mutated in 52 to 73%, the late step of the classical sequence, with 17p loss in 75% of carcinomas but almost no early adenomas (Vogelstein 1988). It is strongly left-sided (79.2% against 56.7%) and strongly microsatellite-stable (78.3% against 30.5%), so it tracks the chromosomally unstable class rather than the disease as a whole (cBioPortal).","Lung cancer: the clearest molecular reading of smoking history. Mutated in 46 to 54% of Western adenocarcinoma, 36.1% in East Asian adenocarcinoma, 15.5% in never-smoker whole genomes, 83 to 94% of squamous tumours and nearly all small-cell tumours (cBioPortal; George 2015). With RB1 loss in an EGFR-mutant adenocarcinoma it defines the group at risk of transforming into small-cell carcinoma (Lee 2017, Offin 2019).","Lymphoma, TP53 loss, in mantle cell lymphoma and in Richter transformation: TP53 is the commonest route by which a lymphoma stops responding to chemotherapy, because chemotherapy kills largely by provoking a p53-dependent death. In mantle cell lymphoma it travels with blastoid morphology, a high Ki-67 and CDKN2A deletion. In Richter transformation it is one of two lesions that dominate the genetics, and the transformed clone is usually the same clone as the leukaemia rather than a second cancer. Frequency: In 183 younger mantle cell lymphoma patients from the Nordic MCL2 and MCL3 trials, TP53 mutation in 11% and TP53 deletion in 16%, with CDKN2A deletion in 20% and NOTCH1 mutation in 4%; only TP53 mutation kept its prognostic weight in multivariable analysis, with a hazard ratio of 6.2 for overall survival, a median overall survival of 1.8 years against 12.7 years for unmutated cases, and half the mutated group relapsing within a year (Eskelund 2017). In 86 cases of Richter syndrome, TP53 disruption in 47.1% and MYC abnormality in 26.2%; clonally unrelated transformations had both a longer median survival, 62.5 against 14.2 months, and less TP53 disruption, 23.1% against 60.0% (Rossi 2011). What it changes about treatment: In mantle cell lymphoma, yes in practice if not yet on any label: a TP53 mutation is the usual reason to abandon intensive cytarabine-based induction and autologous transplant and to go to a BTK inhibitor, a BCL-2 inhibitor or CAR-T instead. In Richter transformation it is the main prognostic variable, and establishing whether the large-cell clone is related to the leukaemic one changes the expected outcome more than any drug does."],"symbol":"TP53","role":[],"sources":[],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: 1 of 1 label readouts filed under it measure a sequence variant (TP53 mutation and del(17p)) absent from normal cells. HPA TP53: RNA low tissue specificity; no normal tissue stained high; highest cancer staining ovarian cancer (6 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Lung cancer (all types), Leukaemia, Biliary tract cancer (all types), Pancreatic ductal adenocarcinoma, Colorectal cancer); approvals of single-target medicines aimed at it also list Endometrial cancer, Multiple myeloma, Lymphoma, not counted; Open Targets associates it with 72 specific cancer types at or above 0.5 (Li-Fraumeni syndrome, hepatocellular carcinoma, head and neck squamous cell carcinoma, choroid plexus papilloma, colorectal cancer, basal cell carcinoma, susceptibility to, 7 and more). (Rule 3 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"TP53 mutation and del(17p)","url":"https://www.fda.gov/medical-devices/in-vitro-diagnostics/list-cleared-or-approved-companion-diagnostic-devices-in-vitro-and-imaging-tools","note":"FDA: List of FDA-Authorized Companion Diagnostic Devices"},{"label":"Human Protein Atlas TP53 tissue","url":"https://www.proteinatlas.org/ENSG00000141510-TP53/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000141510 associations","url":"https://platform.opentargets.org/target/ENSG00000141510/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11998","ensembl":"ENSG00000141510","uniprot":"P04637","entrez":"7157","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Matlashewski et al, EMBO J, 1984, \"Isolation and characterization of a human p53 cDNA clone: expression of the human p53 gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6396087/","biology":"Transcription factor coordinating cell-cycle arrest, apoptosis, and senescence after DNA damage.","whereFound":["Nearly every cancer type; near-universal in TNBC, high-grade serous ovarian, SCLC","Triple-negative breast cancer: mutation about 80%","Pancreatic ductal adenocarcinoma: mutation 66-76%","Colorectal cancer: mutation (with 17p loss) 52-73%","Gallbladder cancer: mutation about 63%","Non-small-cell lung cancer: mutation 46-54%","Non-small-cell lung cancer: mutation 83-94%","Small-cell lung cancer: biallelic inactivation 86-100%","Prostate cancer: inactivating mutation, with deep deletion on top 3-41% depending on disease state"],"targetClass":"tumor-suppressor","prevalence":[{"cancerId":"tnbc","pct":"80-85","measure":"TP53 mutation (basal-like)","source":"https://www.cbioportal.org/study/summary?id=brca_tcga_pan_can_atlas_2018"},{"cancerId":"ovarian","pct":"95","measure":"TP53 mutation (high-grade serous)","source":"https://www.cbioportal.org/study/summary?id=ov_tcga_pan_can_atlas_2018"},{"cancerId":"sclc","pct":">90","measure":"TP53 mutation","source":"https://en.wikipedia.org/wiki/P53","note":"RB1 co-loss"},{"cancerId":"aml","pct":"8-10","measure":"TP53 mutation","source":"https://www.cbioportal.org/study/summary?id=laml_tcga_pan_can_atlas_2018","note":"Higher in therapy-related AML"},{"cancerId":"pancreatic","pct":"70-75","measure":"TP53 mutation","source":"https://www.cbioportal.org/study/summary?id=paad_tcga_pan_can_atlas_2018"},{"cancerId":"colorectal","pct":"55-60","measure":"TP53 mutation","source":"https://www.cbioportal.org/study/summary?id=coadread_tcga_pan_can_atlas_2018"},{"cancerId":"tnbc","pct":80,"measure":"Mutation","source":"https://doi.org/10.1038/nature11412","note":"80% of basal-like tumours in the TCGA breast study (Cancer Genome Atlas 2012); 81% of 447 sequenced TNBCs from METABRIC and TCGA, 92% in the BL1 subtype (Bareche 2018); cBioPortal: 67 of 84 exome-sequenced triple-negative samples, 79.8%, in brca_tcga_pub and 100 of 123, 81.3%, on the 2018 calls; 237 of 299, 79.3%, in brca_metabric; 159 of 176 samples, 90.3%, in breast_msk_2018. TP53, PIK3CA and PTEN mutations were the clonally dominant events in 104 primary TNBCs (Shah 2012)."},{"cancerId":"pancreatic","pct":"66-76","measure":"Mutation","source":"https://www.cbioportal.org/study/summary?id=pdac_msk_2024","note":"cBioPortal: 1,778 of 2,336, 76.1%, in pdac_msk_2024; 286 of 395, 72.4%, in pancreas_msk_2024; 105 of 140, 75.0%, in paad_cptac_2021; 253 of 383, 66.1%, in paad_qcmg_uq_2016; 55 of 109, 50.5%, in paad_utsw_2015; 107 of 179, 59.8%, in paad_tcga_pan_can_atlas_2018; 33 of 99 in paad_icgc on 2012 exome depth. Hotspots R175H, R248Q, R248W, R273H and R273C recur. 44.5% of KRAS wild-type tumours (Philip 2022); the squamous subtype is enriched for TP53 and KDM6A mutation (Bailey 2016)."},{"cancerId":"colorectal","pct":"52-73","measure":"Mutation (with 17p loss)","source":"https://www.cbioportal.org/study/summary?id=crc_msk_2026","note":"cBioPortal: 5,295 of 7,237, 73.2%, in crc_msk_2026; 824 of 1,134, 72.7%, in crc_msk_2017; 1,107 of 1,516, 73.0%, in crc_eo_2020; 314 of 534, 58.8%, in coadread_tcga_pan_can_atlas_2018; 121 of 224, 54.0%, in coadread_tcga_pub; 320 of 619, 51.7%, in coadread_dfci_2016. Loss of chromosome 17p sequences was found in 75% of carcinomas but only rarely in early adenomas in the 172 specimens that built the genetic model (Vogelstein 1988)."},{"cancerId":"gallbladder","pct":63,"measure":"Mutation","source":"https://doi.org/10.1158/1078-0432.ccr-22-1954","note":"63% of 244 MSK-IMPACT samples (Giraldo 2022; cBioPortal gbc_mskcc_2022 counts 154 of 244 sequenced samples, 63.1%); 59% of 85 gallbladder carcinomas on FoundationOne (Javle 2016); 54% of 376 Indian patients (Suryavanshi 2025); 47.1% of 57 Chinese tumour-normal pairs (Li 2014); 30% of 56 Chilean tumours on the Oncomine Comprehensive Assay (Erices 2025); the most mutated gene in 190 patients (Nepal 2021)."},{"cancerId":"nsclc","pct":"46-54","measure":"Mutation","source":"https://www.cbioportal.org/study/summary?id=luad_mskcc_2023_met_organotropism","note":"cBioPortal: 1,429 of 2,653, 53.9%, in luad_mskcc_2023_met_organotropism; 485 of 915, 53.0%, in lung_msk_2017; 295 of 566, 52.1%, in luad_tcga_pan_can_atlas_2018; 107 of 230, 46.5%, in luad_tcga_pub; 59 of 110, 53.6%, in luad_cptac_2020; 109 of 302, 36.1%, in luad_oncosg_2020; 36 of 232, 15.5%, in lung_nci_2022."},{"cancerId":"nsclc","pct":"83-94","measure":"Mutation","source":"https://www.cbioportal.org/study/summary?id=lusc_tcga_pan_can_atlas_2018","note":"cBioPortal: 404 of 484, 83.5%, in lusc_tcga_pan_can_atlas_2018; 149 of 178, 83.7%, in lusc_tcga_pub; 102 of 108, 94.4%, in lusc_cptac_2021. The founding paper reported mutation of TP53 in nearly all specimens, alongside a mean of 360 exonic mutations, 165 genomic rearrangements and 323 segments of copy-number change per tumour (Cancer Genome Atlas Research Network 2012)."},{"cancerId":"sclc","pct":"86-100","measure":"Biallelic inactivation","source":"https://www.cbioportal.org/study/summary?id=sclc_ucologne_2015","note":"cBioPortal: 103 of 120, 85.8%, carry a non-synonymous TP53 mutation in sclc_ucologne_2015. Whole-genome sequencing of 110 small-cell lung cancers found biallelic inactivation of TP53 in nearly all tumours, sometimes through complex genomic rearrangement rather than point mutation, which is why a mutation call alone reads lower (George 2015)."},{"cancerId":"prostate","pct":"3-41","measure":"Inactivating mutation, with deep deletion on top","source":"https://www.cbioportal.org/study/summary?id=prad_cpcg_2017","note":"cBioPortal mutation: 16 of 477, 3.4%, in prad_cpcg_2017 and 26 of 313, 8.3%, in prostate_dkfz_2018, both localised whole-genome cohorts; 57 of 494, 11.5%, in prad_tcga_pan_can_atlas_2018; 189 of 1,013, 18.7%, in prad_p1000; 129 of 424, 30.4%, in prad_mcspc_mskcc_2020; 650 of 2,260, 28.8%, in prostate_msk_2024; 163 of 444, 36.7%, in prad_su2c_2019; 58 of 150, 38.7%, in prad_su2c_2015; 57 of 141, 40.4%, in prad_fhcrc; 25 of 61, 41.0%, in prad_mich. Deep deletion adds 2 to 15% depending on cohort."}]},{"id":"tp53bp1","kind":"target","name":"TP53BP1","aka":["tumor protein p53 binding protein 1","TP53-binding protein 1","53BP1","p202","TDRD30"],"tldr":"TP53BP1 (TP53-binding protein 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, a fusion partner and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer.","summary":"Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis. Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1. In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11999","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11999"},{"label":"UniProt Q12888","url":"https://www.uniprot.org/uniprotkb/Q12888/entry"},{"label":"NCBI Gene 7158","url":"https://www.ncbi.nlm.nih.gov/gene/7158"},{"label":"Ensembl ENSG00000067369","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000067369"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TP53BP1","role":["biomarker","fusion-partner","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11999","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11999","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12888","url":"https://www.uniprot.org/uniprotkb/Q12888/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TP53BP1","url":"https://civicdb.org/features/5852","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TP53BP1: RNA low tissue specificity; high antibody staining in 37 normal tissues; highest cancer staining glioma (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q12888","url":"https://www.uniprot.org/uniprotkb/Q12888/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TP53BP1","url":"https://civicdb.org/features/5852","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer (GraphQL API, CC0)"},{"label":"Human Protein Atlas TP53BP1 tissue","url":"https://www.proteinatlas.org/ENSG00000067369-TP53BP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000067369 associations","url":"https://platform.opentargets.org/target/ENSG00000067369/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11999","ensembl":"ENSG00000067369","uniprot":"Q12888","entrez":"7158","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Iwabuchi et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Two cellular proteins that bind to wild-type but not mutant p53\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8016121/","biology":"Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis. Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1. In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites. Recruited to DSBs sites by recognising and binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites. Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs. Participates in the repair and the orientation of the broken DNA ends during CSR. Location: Nucleus; Chromosome; Chromosome, centromere, kinetochore (UniProt). Locus 15q15.3 (HGNC).","whereFound":["Lung cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"tp63","kind":"target","name":"TP63","aka":["tumor protein p63","Tumor protein 63","p51","SHFM4","EEC3","p63","p73L","OFC8","p73H","p53CP","p40","TP73L","TP53L","TP53CP"],"tldr":"TP63 (Tumour protein 63) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Lung cancer, Skin cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription.\n\nOpen Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes affected pathway 0.40, literature 0.98, genetic association 0.72, somatic mutation 0.83, animal model 0.75). IntOGen calls it a driver in 5 cohorts (1 activating, 4 loss-of-function), covering Bladder Urothelial Carcinoma, Cervical Squamous Cell Carcinoma, Head and Neck Squamous Cell Carcinoma, Melanoma, Neuroblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15979","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15979"},{"label":"UniProt Q9H3D4","url":"https://www.uniprot.org/uniprotkb/Q9H3D4/entry"},{"label":"NCBI Gene 8626","url":"https://www.ncbi.nlm.nih.gov/gene/8626"},{"label":"Ensembl ENSG00000073282","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000073282"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","skin-cancer","non-hodgkin-lymphoma","leukaemia","urothelial","cervical","head-and-neck","breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lung cancer: high-level amplification in about 30% of squamous tumours, alongside SOX2 on 3q26, and the marker pathologists stain for to call squamous histology (cBioPortal)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TP63","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:15979","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15979","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H3D4","url":"https://www.uniprot.org/uniprotkb/Q9H3D4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000073282","url":"https://platform.opentargets.org/target/ENSG00000073282/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.63, melanoma 0.60, non-Hodgkin lymphoma 0.64, skin cancer 0.68, basal cell carcinoma 0.52, breast cancer 0.56 (GraphQL API, CC0)"},{"label":"IntOGen TP63","url":"https://www.intogen.org/search?gene=TP63","note":"driver in 5 cohorts (Act 1, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:15979","ensembl":"ENSG00000073282","uniprot":"Q9H3D4","entrez":"8626","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Senoo et al, Biochem. Biophys. Res. Commun, 1998, \"A second p53-related protein, p73L, with high homology to p73\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9703973/","biology":"Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signalling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. Location: Nucleus (UniProt). Locus 3q28 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.69 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.68 with skin cancer (MONDO_0002898)","Non-Hodgkin lymphoma: Open Targets association 0.64 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Cervical cancer: IntOGen driver in 1 cohort (CESC)"],"targetClass":"transcription","prevalence":[]},{"id":"tpcn2","kind":"target","name":"TPCN2","aka":["two pore segment channel 2","Two pore channel protein 2","TPC2"],"tldr":"TPCN2 (Two pore channel protein 2) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer.","summary":"Intracellular channel initially characterised as a non-selective Ca(2+)-permeable channel activated by NAADP (nicotinic acid adenine dinucleotide phosphate), it is also a highly-selective Na(+) channel activated directly by PI(3,5)P2 (phosphatidylinositol 3,5-bisphosphate). Localises to the lysosomal and late endosome membranes where it regulates organellar membrane excitability, membrane trafficking, and pH homeostasis. Is associated with a plethora of physiological processes, including mTOR-dependent nutrient sensing, skin pigmentation and autophagy.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.79, animal model 0.25, genetic association 0.68).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20820"},{"label":"UniProt Q8NHX9","url":"https://www.uniprot.org/uniprotkb/Q8NHX9/entry"},{"label":"NCBI Gene 219931","url":"https://www.ncbi.nlm.nih.gov/gene/219931"},{"label":"Ensembl ENSG00000162341","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000162341"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TPCN2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:20820","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20820","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NHX9","url":"https://www.uniprot.org/uniprotkb/Q8NHX9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000162341","url":"https://platform.opentargets.org/target/ENSG00000162341/associations","note":"association with cancer (MONDO_0004992) 0.54; per-cancer scores at or above 0.5: skin cancer 0.50 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:20820","ensembl":"ENSG00000162341","uniprot":"Q8NHX9","entrez":"219931","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Intracellular channel initially characterised as a non-selective Ca(2+)-permeable channel activated by NAADP (nicotinic acid adenine dinucleotide phosphate), it is also a highly-selective Na(+) channel activated directly by PI(3,5)P2 (phosphatidylinositol 3,5-bisphosphate). Localises to the lysosomal and late endosome membranes where it regulates organellar membrane excitability, membrane trafficking, and pH homeostasis. Is associated with a plethora of physiological processes, including mTOR-dependent nutrient sensing, skin pigmentation and autophagy. Ion selectivity is not fixed but rather agonist-dependent and under defined ionic conditions, can be readily activated by both NAADP and PI(3,5)P2. As calcium channel, it increases the pH in the lysosomal lumen, as sodium channel, it promotes lysosomal exocytosis. Plays a crucial role in endolysosomal trafficking in the endolysosomal degradation pathway and is potentially involved in the homeostatic control of many macromolecules and cell metabolites. Location: Late endosome membrane; Lysosome membrane; Melanosome membrane (UniProt). Locus 11q13.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.50 with skin cancer (MONDO_0002898)"],"targetClass":"other","prevalence":[]},{"id":"tph2","kind":"target","name":"TPH2","aka":["tryptophan hydroxylase 2","Tryptophan 5-hydroxylase 2","FLJ37295"],"tldr":"TPH2 (Tryptophan 5-hydroxylase 2) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Neuroendocrine tumours.","summary":"Neuron-specific enzyme that catalyses the conversion of L-tryptophan into 5-hydroxy-L-tryptophan, the rate-limiting step in serotonin production, using Fe(2+) as cofactor and molecular oxygen and tetrahydrobiopterin (BH4) as cosubstrates. Plays a crucial role in regulating mood, anxiety and sleep.\n\n","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20692","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20692"},{"label":"UniProt Q8IWU9","url":"https://www.uniprot.org/uniprotkb/Q8IWU9/entry"},{"label":"NCBI Gene 121278","url":"https://www.ncbi.nlm.nih.gov/gene/121278"},{"label":"Ensembl ENSG00000139287","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139287"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.86. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TPH2","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20692","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20692","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IWU9","url":"https://www.uniprot.org/uniprotkb/Q8IWU9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000139287","url":"https://platform.opentargets.org/target/ENSG00000139287/associations","note":"per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.53 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA not detected, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TPH2: RNA not detected; high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TPH2 tissue","url":"https://www.proteinatlas.org/ENSG00000139287-TPH2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139287 associations","url":"https://platform.opentargets.org/target/ENSG00000139287/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20692","ensembl":"ENSG00000139287","uniprot":"Q8IWU9","entrez":"121278","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Walther D.J. et al, Science, 2003, \"Synthesis of serotonin by a second tryptophan hydroxylase isoform\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12511643/","biology":"Neuron-specific enzyme that catalyses the conversion of L-tryptophan into 5-hydroxy-L-tryptophan, the rate-limiting step in serotonin production, using Fe(2+) as cofactor and molecular oxygen and tetrahydrobiopterin (BH4) as cosubstrates. Plays a crucial role in regulating mood, anxiety and sleep. Locus 12q21.1 (HGNC).","whereFound":["Neuroendocrine tumours: Open Targets association 0.53 with neuroendocrine neoplasm (MONDO_0019496)"],"targetClass":"enzyme","prevalence":[]},{"id":"tpm3","kind":"target","name":"TPM3","aka":["tropomyosin 3","Tropomyosin alpha-3 chain","NEM1"],"tldr":"TPM3 (Tropomyosin alpha-3 chain) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Lung cancer, Colorectal cancer and Non-small-cell lung cancer.","summary":"Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon.\n\nOpen Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.76, genetic association 0.09, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12012","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012"},{"label":"UniProt P06753","url":"https://www.uniprot.org/uniprotkb/P06753/entry"},{"label":"NCBI Gene 7170","url":"https://www.ncbi.nlm.nih.gov/gene/7170"},{"label":"Ensembl ENSG00000143549","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143549"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer","colorectal","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TPM3","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12012","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12012","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P06753","url":"https://www.uniprot.org/uniprotkb/P06753/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000143549","url":"https://platform.opentargets.org/target/ENSG00000143549/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.50, colorectal cancer 0.50, lung cancer 0.52 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12012","ensembl":"ENSG00000143549","uniprot":"P06753","entrez":"7170","firstDescribed":1986,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Reinach F.C. et al, Nature, 1986, \"Tissue-specific expression of the human tropomyosin gene involved in the generation of the trk oncogene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3018581/","biology":"Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilising cytoskeleton actin filaments. Location: Cytoplasm, cytoskeleton (UniProt). Locus 1q21.3 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)","Non-small-cell lung cancer: Open Targets association 0.50 with non-small cell lung carcinoma (MONDO_0005233)"],"targetClass":"other","prevalence":[]},{"id":"tpm4","kind":"target","name":"TPM4","aka":["tropomyosin 4","Tropomyosin alpha-4 chain"],"tldr":"TPM4 (Tropomyosin alpha-4 chain) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes affected pathway 0.76, literature 0.96, genetic association 0.19, somatic mutation 0.80, animal model 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12013","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12013"},{"label":"UniProt P67936","url":"https://www.uniprot.org/uniprotkb/P67936/entry"},{"label":"NCBI Gene 7171","url":"https://www.ncbi.nlm.nih.gov/gene/7171"},{"label":"Ensembl ENSG00000167460","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167460"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TPM4","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12013","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12013","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P67936","url":"https://www.uniprot.org/uniprotkb/P67936/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000167460","url":"https://platform.opentargets.org/target/ENSG00000167460/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12013","ensembl":"ENSG00000167460","uniprot":"P67936","entrez":"7171","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: MacLeod A.R. et al, Proc. Natl. Acad. Sci. U.S.A, 1985, \"A muscle-type tropomyosin in human fibroblasts: evidence for expression by an alternative RNA splicing mechanism\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3865200/","biology":"Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilising cytoskeleton actin filaments. Binds calcium. Plays a role in platelet biogenesis. Location: Cytoplasm, cytoskeleton (UniProt). Locus 19p13.12-p13.11 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"tpr","kind":"target","name":"TPR","aka":["translocated promoter region, nuclear basket protein","Nucleoprotein TPR"],"tldr":"TPR (Nucleoprotein TPR) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma and Medulloblastoma.","summary":"Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalisation in interphase, and in the mitotic spindle checkpoint signalling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.76, genetic association 0.04, somatic mutation 0.80). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Hepatocellular Carcinoma, Medulloblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12017","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12017"},{"label":"UniProt P12270","url":"https://www.uniprot.org/uniprotkb/P12270/entry"},{"label":"NCBI Gene 7175","url":"https://www.ncbi.nlm.nih.gov/gene/7175"},{"label":"Ensembl ENSG00000047410","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000047410"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TPR","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12017","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12017","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P12270","url":"https://www.uniprot.org/uniprotkb/P12270/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000047410","url":"https://platform.opentargets.org/target/ENSG00000047410/associations","note":"association with cancer (MONDO_0004992) 0.71;  (GraphQL API, CC0)"},{"label":"IntOGen TPR","url":"https://www.intogen.org/search?gene=TPR","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12017","ensembl":"ENSG00000047410","uniprot":"P12270","entrez":"7175","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: King H.W.S. et al, Oncogene, 1988, \"tpr homologues activate met and raf\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3387099/","biology":"Component of the nuclear pore complex (NPC), a complex required for the trafficking across the nuclear envelope. Functions as a scaffolding element in the nuclear phase of the NPC essential for normal nucleocytoplasmic transport of proteins and mRNAs, plays a role in the establishment of nuclear-peripheral chromatin compartmentalisation in interphase, and in the mitotic spindle checkpoint signalling during mitosis. Involved in the quality control and retention of unspliced mRNAs in the nucleus; in association with NUP153, regulates the nuclear export of unspliced mRNA species bearing constitutive transport element (CTE) in a NXF1- and KHDRBS1-independent manner. Negatively regulates both the association of CTE-containing mRNA with large polyribosomes and translation initiation. Does not play any role in Rev response element (RRE)-mediated export of unspliced mRNAs. Implicated in nuclear export of mRNAs transcribed from heat shock gene promoters; associates both with chromatin in the HSP70 promoter and with mRNAs transcribed from this promoter under stress-induced conditions. Location: Nucleus; Nucleus membrane; Nucleus envelope; Nucleus, nuclear pore complex (UniProt). Locus 1q31.1 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Medulloblastoma: IntOGen driver in 1 cohort (MBL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tpt1","kind":"target","name":"TPT1","aka":["tumor protein, translationally-controlled 1","Translationally-controlled tumor protein","fortilin"],"tldr":"TPT1 (Translationally-controlled tumour protein) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Melanoma.","summary":"Involved in calcium binding and microtubule stabilisation. Acts as a negative regulator of TSC22D1-mediated apoptosis, via interaction with and destabilisation of TSC22D1 protein.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Sertraline.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12022","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12022"},{"label":"UniProt P13693","url":"https://www.uniprot.org/uniprotkb/P13693/entry"},{"label":"NCBI Gene 7178","url":"https://www.ncbi.nlm.nih.gov/gene/7178"},{"label":"Ensembl ENSG00000133112","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000133112"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TPT1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12022","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12022","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P13693","url":"https://www.uniprot.org/uniprotkb/P13693/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TPT1","url":"https://civicdb.org/features/5870","note":"1 evidence items, 0 assertions, 1 variants; diseases: Melanoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists TPT1 among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA TPT1: RNA tissue enhanced (skeletal muscle 21,778 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (3 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Skin cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TPT1 tissue","url":"https://www.proteinatlas.org/ENSG00000133112-TPT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000133112 associations","url":"https://platform.opentargets.org/target/ENSG00000133112/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12022","ensembl":"ENSG00000133112","uniprot":"P13693","entrez":"7178","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gross et al, Nucleic Acids Res, 1989, \"cDNA sequence coding for a translationally controlled human tumor protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2813067/","biology":"Involved in calcium binding and microtubule stabilisation. Acts as a negative regulator of TSC22D1-mediated apoptosis, via interaction with and destabilisation of TSC22D1 protein. Location: Cytoplasm (UniProt). Locus 13q14.13 (HGNC).","whereFound":["Melanoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"traf3","kind":"target","name":"TRAF3","aka":["TNF receptor associated factor 3","TNF receptor-associated factor 3","CAP-1","CD40bp","CRAF1","LAP1","RNF118"],"tldr":"TRAF3 (TNF receptor-associated factor 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Multiple myeloma.","summary":"Cytoplasmic E3 ubiquitin ligase that regulates various signalling pathways, such as the NF-kappa-B, mitogen-activated protein kinase (MAPK) and interferon regulatory factor (IRF) pathways, and thus controls a lot of biological processes in both immune and non-immune cell types. In TLR and RLR signalling pathways, acts as an E3 ubiquitin ligase promoting the synthesis of 'Lys-63'-linked polyubiquitin chains on several substrates such as ASC that lead to the activation of the type I interferon response or the inflammasome. Following the activation of certain TLRs such as TLR4, acts as a negative NF-kappa-B regulator, possibly to avoid unregulated inflammatory response, and its degradation via 'Lys-48'-linked polyubiquitination is required for MAPK activation and production of inflammatory cytokines.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12033","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12033"},{"label":"UniProt Q13114","url":"https://www.uniprot.org/uniprotkb/Q13114/entry"},{"label":"NCBI Gene 7187","url":"https://www.ncbi.nlm.nih.gov/gene/7187"},{"label":"Ensembl ENSG00000131323","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000131323"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRAF3","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12033","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12033","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13114","url":"https://www.uniprot.org/uniprotkb/Q13114/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TRAF3","url":"https://www.intogen.org/search?gene=TRAF3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12033","ensembl":"ENSG00000131323","uniprot":"Q13114","entrez":"7187","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hu H.M. et al, J. Biol. Chem, 1994, \"A novel RING finger protein interacts with the cytoplasmic domain of CD40\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7527023/","biology":"Cytoplasmic E3 ubiquitin ligase that regulates various signalling pathways, such as the NF-kappa-B, mitogen-activated protein kinase (MAPK) and interferon regulatory factor (IRF) pathways, and thus controls a lot of biological processes in both immune and non-immune cell types. In TLR and RLR signalling pathways, acts as an E3 ubiquitin ligase promoting the synthesis of 'Lys-63'-linked polyubiquitin chains on several substrates such as ASC that lead to the activation of the type I interferon response or the inflammasome. Following the activation of certain TLRs such as TLR4, acts as a negative NF-kappa-B regulator, possibly to avoid unregulated inflammatory response, and its degradation via 'Lys-48'-linked polyubiquitination is required for MAPK activation and production of inflammatory cytokines. Alternatively, when TLR4 orchestrates bacterial expulsion, TRAF3 undergoes 'Lys-33'-linked polyubiquitination and subsequently binds to RALGDS, mobilising the exocyst complex to rapidly expel intracellular bacteria back for clearance. Also acts as a constitutive negative regulator of the alternative NF-kappa-B pathway, which controls B-cell survival and lymphoid organ development. Required for normal antibody isotype switching from IgM to IgG. Location: Cytoplasm; Endosome; Mitochondrion (UniProt). Locus 14q32.32 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"traf7","kind":"target","name":"TRAF7","aka":["TNF receptor associated factor 7","E3 ubiquitin-protein ligase TRAF7","RNF119","DKFZp586I021","MGC7807","RFWD1"],"tldr":"TRAF7 (E3 ubiquitin-protein ligase TRAF7) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Mesothelioma, Skin cancer, Pleural mesothelioma and 1 more.","summary":"E3 ubiquitin and SUMO-protein ligase that plays a role in different biological processes such as innate immunity, inflammation or apoptosis. Potentiates MAP3K3-mediated activation of JUN/AP1 and DDIT3 transcriptional regulators. Negatively regulates MYB transcriptional activity by sequestering it to the cytosol via SUMOylation.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.83, animal model 0.60, genetic association 0.00, somatic mutation 0.96). IntOGen calls it a driver in 2 cohorts (2 activating, 0 loss-of-function), covering Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20456","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20456"},{"label":"UniProt Q6Q0C0","url":"https://www.uniprot.org/uniprotkb/Q6Q0C0/entry"},{"label":"NCBI Gene 84231","url":"https://www.ncbi.nlm.nih.gov/gene/84231"},{"label":"Ensembl ENSG00000131653","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000131653"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["mesothelioma","skin-cancer","pleural-mesothelioma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRAF7","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:20456","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20456","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6Q0C0","url":"https://www.uniprot.org/uniprotkb/Q6Q0C0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000131653","url":"https://platform.opentargets.org/target/ENSG00000131653/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: melanoma 0.52, skin cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen TRAF7","url":"https://www.intogen.org/search?gene=TRAF7","note":"driver in 2 cohorts (Act 2, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:20456","ensembl":"ENSG00000131653","uniprot":"Q6Q0C0","entrez":"84231","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wiemann et al, Genome Res, 2001, \"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11230166/","biology":"E3 ubiquitin and SUMO-protein ligase that plays a role in different biological processes such as innate immunity, inflammation or apoptosis. Potentiates MAP3K3-mediated activation of JUN/AP1 and DDIT3 transcriptional regulators. Negatively regulates MYB transcriptional activity by sequestering it to the cytosol via SUMOylation. Plays a role in the phosphorylation of MAPK1 and/or MAPK3, probably via its interaction with MAP3K3. Negatively regulates RLR-mediated innate immunity by promoting 'Lys-48'-linked ubiquitination of TBK1 through its RING domain to inhibit the cellular antiviral response. Promotes 'Lys-29'-linked polyubiquitination of NEMO/IKBKG and RELA leading to targeting these two proteins to lysosomal degradative pathways, reducing the transcriptional activity of NF-kappa-B. Location: Cytoplasmic vesicle; Cytoplasm; Nucleus (UniProt). Locus 16p13.3 (HGNC).","whereFound":["Mesothelioma: IntOGen driver in 2 cohorts (PLMESO)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Pleural mesothelioma: IntOGen driver in 2 cohorts (PLMESO)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"trak1","kind":"target","name":"TRAK1","aka":["trafficking kinesin protein 1","Trafficking kinesin-binding protein 1","OIP106","KIAA1042","MILT1"],"tldr":"TRAK1 (Trafficking kinesin-binding protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors. Involved in mitochondrial motility. When O-glycosylated, abolishes mitochondrial motility.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.39, affected pathway 0.89, animal model 0.36, genetic association 0.32).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29947","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29947"},{"label":"UniProt Q9UPV9","url":"https://www.uniprot.org/uniprotkb/Q9UPV9/entry"},{"label":"NCBI Gene 22906","url":"https://www.ncbi.nlm.nih.gov/gene/22906"},{"label":"Ensembl ENSG00000182606","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182606"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRAK1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:29947","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29947","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UPV9","url":"https://www.uniprot.org/uniprotkb/Q9UPV9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000182606","url":"https://platform.opentargets.org/target/ENSG00000182606/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:29947","ensembl":"ENSG00000182606","uniprot":"Q9UPV9","entrez":"22906","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kikuno et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10470851/","biology":"Involved in the regulation of endosome-to-lysosome trafficking, including endocytic trafficking of EGF-EGFR complexes and GABA-A receptors. Involved in mitochondrial motility. When O-glycosylated, abolishes mitochondrial motility. Crucial for recruiting OGT to the mitochondrial surface of neuronal processes. TRAK1 and RHOT form an essential protein complex that links KIF5 to mitochondria for light chain-independent, anterograde transport of mitochondria. Location: Cytoplasm; Nucleus; Mitochondrion; Early endosome (UniProt). Locus 3p22.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"trim24","kind":"target","name":"TRIM24","aka":["tripartite motif containing 24","Transcription intermediary factor 1-alpha","hTIF1","Tif1a","RNF82","TIF1A","TIF1"],"tldr":"TRIM24 (Transcription intermediary factor 1-alpha) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Prostate cancer, Lung cancer and 3 more.","summary":"Transcriptional coactivator that interacts with numerous nuclear receptors and coactivators and modulates the transcription of target genes. Interacts with chromatin depending on histone H3 modifications, having the highest affinity for histone H3 that is both unmodified at 'Lys-4' (H3K4me0) and acetylated at 'Lys-23' (H3K23ac). Has E3 protein-ubiquitin ligase activity.\n\nOpen Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes affected pathway 0.96, literature 0.98, genetic association 0.44, somatic mutation 0.83, animal model 0.71). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11812","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11812"},{"label":"UniProt O15164","url":"https://www.uniprot.org/uniprotkb/O15164/entry"},{"label":"NCBI Gene 8805","url":"https://www.ncbi.nlm.nih.gov/gene/8805"},{"label":"Ensembl ENSG00000122779","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000122779"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","prostate","lung-cancer","breast-cancer","ovarian","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRIM24","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:11812","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11812","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15164","url":"https://www.uniprot.org/uniprotkb/O15164/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000122779","url":"https://platform.opentargets.org/target/ENSG00000122779/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: ovarian cancer 0.51, non-Hodgkin lymphoma 0.51, breast cancer 0.53, lung cancer 0.53, leukaemia 0.60 (GraphQL API, CC0)"},{"label":"IntOGen TRIM24","url":"https://www.intogen.org/search?gene=TRIM24","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:11812","ensembl":"ENSG00000122779","uniprot":"O15164","entrez":"8805","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Thenot et al, J. Biol. Chem, 1997, \"Differential interaction of nuclear receptors with the putative human transcriptional coactivator hTIF1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9115274/","biology":"Transcriptional coactivator that interacts with numerous nuclear receptors and coactivators and modulates the transcription of target genes. Interacts with chromatin depending on histone H3 modifications, having the highest affinity for histone H3 that is both unmodified at 'Lys-4' (H3K4me0) and acetylated at 'Lys-23' (H3K23ac). Has E3 protein-ubiquitin ligase activity. During the DNA damage response, participates in an autoregulatory feedback loop with TP53. Early in response to DNA damage, ATM kinase phosphorylates TRIM24 leading to its ubiquitination and degradation. After sufficient DNA repair has occurred, TP53 activates TRIM24 transcription, ultimately leading to TRIM24-mediated TP53 ubiquitination and degradation. Location: Nucleus; Cytoplasm; Mitochondrion (UniProt). Locus 7q33-q34 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.60 with leukaemia (MONDO_0005059)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Ovarian cancer: Open Targets association 0.51 with ovarian cancer (MONDO_0008170)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)"],"targetClass":"oncogene","prevalence":[]},{"id":"trim27","kind":"target","name":"TRIM27","aka":["tripartite motif containing 27","Zinc finger protein RFP","RNF76"],"tldr":"TRIM27 (Zinc finger protein RFP) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"E3 ubiquitin-protein ligase that mediates ubiquitination of various substrates and thereby plays a role in diffent processes including proliferation, innate immunity, apoptosis, immune response or autophagy. Ubiquitinates PIK3C2B and inhibits its activity by mediating the formation of 'Lys-48'-linked polyubiquitin chains; the function inhibits CD4 T-cell activation. Acts as a regulator of retrograde transport: together with MAGEL2, mediates the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1, leading to promote endosomal F-actin assembly.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.00, somatic mutation 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:9975","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9975"},{"label":"UniProt P14373","url":"https://www.uniprot.org/uniprotkb/P14373/entry"},{"label":"NCBI Gene 5987","url":"https://www.ncbi.nlm.nih.gov/gene/5987"},{"label":"Ensembl ENSG00000204713","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204713"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRIM27","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:9975","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:9975","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14373","url":"https://www.uniprot.org/uniprotkb/P14373/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000204713","url":"https://platform.opentargets.org/target/ENSG00000204713/associations","note":"association with cancer (MONDO_0004992) 0.61;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:9975","ensembl":"ENSG00000204713","uniprot":"P14373","entrez":"5987","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Takahashi et al, Mol. Cell. Biol, 1988, \"Developmentally regulated expression of a human 'finger'-containing gene encoded by the 5' half of the ret transforming gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3380101/","biology":"E3 ubiquitin-protein ligase that mediates ubiquitination of various substrates and thereby plays a role in diffent processes including proliferation, innate immunity, apoptosis, immune response or autophagy. Ubiquitinates PIK3C2B and inhibits its activity by mediating the formation of 'Lys-48'-linked polyubiquitin chains; the function inhibits CD4 T-cell activation. Acts as a regulator of retrograde transport: together with MAGEL2, mediates the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1, leading to promote endosomal F-actin assembly. Has a transcriptional repressor activity by cooperating with EPC1. Induces apoptosis by activating Jun N-terminal kinase and p38 kinase and also increases caspase-3-like activity independently of mitochondrial events. May function in male germ cell development. Location: Nucleus; Cytoplasm; Nucleus, PML body; Early endosome (UniProt). Locus 6p22.1 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"trim28","kind":"target","name":"TRIM28","aka":["tripartite motif containing 28","Transcription intermediary factor 1-beta","TIF1B","KAP1","TF1B","RNF96","PPP1R157","KAP-1","TIF1-beta","TIF1beta"],"tldr":"TRIM28 (Transcription intermediary factor 1-beta) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Wilms tumour.","summary":"E3 SUMO and ubiquitin ligase that plays a pivotal role in embryonic development, genomic imprinting, and maintenance of genomic stability through repression of repetitive and retroviral elements. Also involved in DNA repair, regulation of innate immunity or cellular energy homeostasis. Acts as a scaffold for assembling transcriptional repression complexes containing methyltransferases, histone deacetylases, and chromatin remodelers.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.81, somatic mutation 0.23, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16384","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16384"},{"label":"UniProt Q13263","url":"https://www.uniprot.org/uniprotkb/Q13263/entry"},{"label":"NCBI Gene 10155","url":"https://www.ncbi.nlm.nih.gov/gene/10155"},{"label":"Ensembl ENSG00000130726","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130726"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["wilms-tumor"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRIM28","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16384","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16384","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13263","url":"https://www.uniprot.org/uniprotkb/Q13263/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000130726","url":"https://platform.opentargets.org/target/ENSG00000130726/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: Wilms tumour 0.67 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16384","ensembl":"ENSG00000130726","uniprot":"Q13263","entrez":"10155","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lyle et al, 1995.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q13263/entry","biology":"E3 SUMO and ubiquitin ligase that plays a pivotal role in embryonic development, genomic imprinting, and maintenance of genomic stability through repression of repetitive and retroviral elements. Also involved in DNA repair, regulation of innate immunity or cellular energy homeostasis. Acts as a scaffold for assembling transcriptional repression complexes containing methyltransferases, histone deacetylases, and chromatin remodelers. Serves as a nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs), mediating gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, and SETDB1, which methylates histone H3 at 'Lys-9' (H3K9me), leading to heterochromatin formation. In collaboration with SETDB1, is also required for H3K9me3 and silencing of endogenous and introduced retroviruses in a DNA-methylation independent-pathway. Functions as a coactivator for CEBPB and NR3C1 (glucocorticoid receptor) in transcriptional activation of ORM1, and as a corepressor for ERBB4. Location: Nucleus (UniProt). Locus 19q13.43 (HGNC).","whereFound":["Wilms tumour: Open Targets association 0.67 with Wilms tumour (MONDO_0006058)"],"targetClass":"transcription","prevalence":[]},{"id":"trim33","kind":"target","name":"TRIM33","aka":["tripartite motif containing 33","E3 ubiquitin-protein ligase TRIM33","TIF1GAMMA","FLJ11429","KIAA1113","TIFGAMMA","RFG7","TF1G","TIF1G","PTC7"],"tldr":"TRIM33 (E3 ubiquitin-protein ligase TRIM33) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Lung cancer, Breast cancer, Colorectal cancer and 1 more.","summary":"Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.97, animal model 0.41, genetic association 0.02, somatic mutation 0.98). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Medulloblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16290","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16290"},{"label":"UniProt Q9UPN9","url":"https://www.uniprot.org/uniprotkb/Q9UPN9/entry"},{"label":"NCBI Gene 51592","url":"https://www.ncbi.nlm.nih.gov/gene/51592"},{"label":"Ensembl ENSG00000197323","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197323"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["lung-cancer","breast-cancer","colorectal","medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRIM33","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:16290","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16290","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UPN9","url":"https://www.uniprot.org/uniprotkb/Q9UPN9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000197323","url":"https://platform.opentargets.org/target/ENSG00000197323/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: colorectal cancer 0.50, breast cancer 0.53, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen TRIM33","url":"https://www.intogen.org/search?gene=TRIM33","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:16290","ensembl":"ENSG00000197323","uniprot":"Q9UPN9","entrez":"51592","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Venturini et al, Oncogene, 1999, \"TIF1gamma, a novel member of the transcriptional intermediary factor 1 family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10022127/","biology":"Acts as an E3 ubiquitin-protein ligase. Promotes SMAD4 ubiquitination, nuclear exclusion and degradation via the ubiquitin proteasome pathway. According to PubMed:16751102, does not promote a decrease in the level of endogenous SMAD4. May act as a transcriptional repressor. Inhibits the transcriptional response to TGF-beta/BMP signalling cascade. Plays a role in the control of cell proliferation. Location: Nucleus (UniProt). Locus 1p13.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Colorectal cancer: Open Targets association 0.50 with colorectal cancer (MONDO_0005575)","Medulloblastoma: IntOGen driver in 2 cohorts (MBL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"trim49c","kind":"target","name":"TRIM49C","aka":["tripartite motif containing 49C","Tripartite motif-containing protein 49C","TRIM49L2"],"tldr":"TRIM49C (Tripartite motif-containing protein 49C) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"UniProt has no function text for P0CI26; HGNC names it \"tripartite motif containing 49C\".\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:38877","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:38877"},{"label":"UniProt P0CI26","url":"https://www.uniprot.org/uniprotkb/P0CI26/entry"},{"label":"NCBI Gene 642612","url":"https://www.ncbi.nlm.nih.gov/gene/642612"},{"label":"Ensembl ENSG00000204449","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204449"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRIM49C","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:38877","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:38877","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0CI26","url":"https://www.uniprot.org/uniprotkb/P0CI26/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TRIM49C","url":"https://www.intogen.org/search?gene=TRIM49C","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:38877","ensembl":"ENSG00000204449","uniprot":"P0CI26","entrez":"642612","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"UniProt has no function text for P0CI26; HGNC names it \"tripartite motif containing 49C\". Locus 11q14.3 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"trip11","kind":"target","name":"TRIP11","aka":["thyroid hormone receptor interactor 11","Thyroid receptor-interacting protein 11","CEV14","Trip230","GMAP-210","GMAP210"],"tldr":"TRIP11 (Thyroid receptor-interacting protein 11) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer.","summary":"Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function. It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.27, affected pathway 0.95, genetic association 0.00, somatic mutation 0.45). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12305","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12305"},{"label":"UniProt Q15643","url":"https://www.uniprot.org/uniprotkb/Q15643/entry"},{"label":"NCBI Gene 9321","url":"https://www.ncbi.nlm.nih.gov/gene/9321"},{"label":"Ensembl ENSG00000100815","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000100815"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRIP11","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12305","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12305","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15643","url":"https://www.uniprot.org/uniprotkb/Q15643/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000100815","url":"https://platform.opentargets.org/target/ENSG00000100815/associations","note":"association with cancer (MONDO_0004992) 0.67;  (GraphQL API, CC0)"},{"label":"IntOGen TRIP11","url":"https://www.intogen.org/search?gene=TRIP11","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12305","ensembl":"ENSG00000100815","uniprot":"Q15643","entrez":"9321","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee J.W. et al, Mol. Endocrinol, 1995, \"Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7776974/","biology":"Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function. It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex. Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription. Location: Golgi apparatus, cis-Golgi network membrane; Cytoplasm, cytoskeleton; Endoplasmic reticulum-Golgi intermediate compartment membrane (UniProt). Locus 14q32.12 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"trop2","kind":"target","name":"TROP2","aka":[],"tldr":"TROP2 is a surface glycoprotein present at high levels on most epithelial cancers (breast, lung, urothelial, gastric, pancreatic) and at low levels on normal tissue. It does not drive the cancer; it is a delivery address, used by the approved ADCs sacituzumab govitecan and datopotamab deruxtecan and by sacituzumab tirumotecan, with a TROP2 PET tracer in development to pick patients.","summary":"Trophoblast cell-surface antigen 2 is a transmembrane glycoprotein overexpressed in most epithelial cancers (breast, lung, urothelial, gastric, pancreatic) with low normal-tissue expression. It is not an oncogenic driver; it is a delivery address. Three TROP2 ADCs are approved or in registration (sacituzumab govitecan, datopotamab deruxtecan, sacituzumab tirumotecan) and a TROP2 PET tracer is in development to select patients.","asOf":"2026-09-04","links":[{"label":"UniProt P09758: TACSTD2 (TROP2)","url":"https://www.uniprot.org/uniprotkb/P09758/entry"}],"tags":["adc-target","pet-target"],"related":["trop2-expression"],"cancers":["tnbc","breast-hr-positive","nsclc","urothelial"],"sections":[],"technologies":[],"targets":[],"drugs":["ak146d1","bio-106","datopotamab-deruxtecan","eb-nk-301","lcb84","sacituzumab-govitecan","sacituzumab-tirumotecan"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct07299747"],"people":[],"bottlenecks":[],"keyPapers":["paper-bardia-ascent-trop2-biomarker-ann-oncol-2021"],"journals":[],"dependsOn":[],"notes":["Triple-negative breast cancer: sacituzumab govitecan benefit was seen at high and medium Trop-2 H-score in ASCENT with a low group too small to judge (Bardia 2021); no label requires the test. TACSTD2 amplification is rare, 2.5 to 4.4% (cBioPortal)."],"symbol":"TACSTD2","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: 6 cell-killing or cell-finding medicines (AK146D1, BIO-106, Datopotamab deruxtecan and more) aim at the antigen, which HPA finds stained high in 1 normal tissue; the medicine relies on the tumour carrying more of it than the normal tissue it shares it with. HPA TACSTD2: RNA tissue enhanced (esophagus 1,245 nTPM, salivary gland 585 nTPM, skin 1 555 nTPM); blood lineage group enriched (dendritic cells 4 nTPM, granulocytes 15 nTPM, monocytes 4 nTPM); high antibody staining in 1 normal tissue; highest cancer staining urothelial cancer (1 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Bladder & urothelial cancer, Pancreatic ductal adenocarcinoma); approvals of single-target medicines aimed at it also list Endometrial cancer, Cervical cancer, not counted; Open Targets associates it with 3 specific cancer types at or above 0.5 (breast cancer, non-small cell lung carcinoma, triple-negative breast carcinoma). (Rule 5 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TACSTD2 tissue","url":"https://www.proteinatlas.org/ENSG00000184292-TACSTD2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas TACSTD2 pathology","url":"https://www.proteinatlas.org/ENSG00000184292-TACSTD2/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184292 associations","url":"https://platform.opentargets.org/target/ENSG00000184292/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11530","ensembl":"ENSG00000184292","uniprot":"P09758","entrez":"4070","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Linnenbach A.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1989, \"Sequence investigation of the major gastrointestinal tumor-associated antigen gene family, GA733\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2911574/","biology":"Regulates calcium signalling and cell adhesion; overexpression correlates with shorter survival. Expression is heterogeneous within tumours, which limits the value of IHC selection. Internalises on antibody binding and traffics to lysosomes, which is what makes it a good ADC target.","whereFound":["Triple-negative breast cancer (~80-90% express)","HR+ breast cancer","NSCLC","Urothelial carcinoma","Gastric, pancreatic, endometrial cancers","Triple-negative breast cancer: protein expression (h-score) and amplification 2-4%"],"targetClass":"surface-antigen","prevalence":[{"cancerId":"tnbc","pct":"80-90","measure":"IHC, any/moderate-high expression","source":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13059868/","note":"ASCENT benefit was independent of TROP2 IHC level"},{"cancerId":"breast-hr-positive","pct":"75-90","measure":"IHC, any expression","source":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13059868/"},{"cancerId":"nsclc","pct":"60-70","measure":"IHC, moderate-high","source":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13059868/","note":"Adenocarcinoma and squamous"},{"cancerId":"urothelial","pct":"80-90","measure":"IHC, any expression","source":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13059868/"},{"cancerId":"pancreatic","pct":50,"measure":"IHC, any expression","source":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13059868/","note":"Approximate; heterogeneous"},{"cancerId":"tnbc","pct":"2-4","measure":"Protein expression (H-score) and amplification","source":"https://doi.org/10.1016/j.annonc.2021.06.002","note":"Trop-2 expression was assessable in 290 of 468 ASCENT patients and sacituzumab govitecan benefit was seen at high and medium expression (progression-free survival 6.9 and 5.6 versus 2.5 and 2.2 months), with the low group too small to judge (Bardia 2021); cBioPortal: TACSTD2 amplification in 3 of 119, 2.5%, in brca_tcga_pan_can_atlas_2018 and 14 of 320, 4.4%, in brca_metabric; no TACSTD2 mutation in either."}]},{"id":"trps1","kind":"target","name":"TRPS1","aka":["transcriptional repressor GATA binding 1","Zinc finger transcription factor Trps1","GC79"],"tldr":"TRPS1 (Zinc finger transcription factor Trps1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.99, affected pathway 0.25, animal model 0.57, genetic association 0.69).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12340","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12340"},{"label":"UniProt Q9UHF7","url":"https://www.uniprot.org/uniprotkb/Q9UHF7/entry"},{"label":"NCBI Gene 7227","url":"https://www.ncbi.nlm.nih.gov/gene/7227"},{"label":"Ensembl ENSG00000104447","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104447"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRPS1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12340","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12340","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UHF7","url":"https://www.uniprot.org/uniprotkb/Q9UHF7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104447","url":"https://platform.opentargets.org/target/ENSG00000104447/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: breast cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12340","ensembl":"ENSG00000104447","uniprot":"Q9UHF7","entrez":"7227","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Momeni et al, Nat. Genet, 2000, \"Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10615131/","biology":"Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes. Location: Nucleus (UniProt). Locus 8q23.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"trrap","kind":"target","name":"TRRAP","aka":["transformation/transcription domain associated protein","Transformation/transcription domain-associated protein","TR-AP","PAF400","Tra1"],"tldr":"TRRAP (Transformation/transcription domain-associated protein) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Renal cell carcinoma, Lung cancer and 5 more.","summary":"Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase complex which is responsible for acetylation of nucleosomal histones H4 and H2A. Plays a central role in MYC transcription activation, and also participates in cell transformation by MYC.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.69, animal model 0.31, genetic association 0.00, somatic mutation 0.89). IntOGen calls it a driver in 14 cohorts (11 activating, 2 loss-of-function), covering Adenoid Cystic Carcinoma, Angiosarcoma, Bladder Urothelial Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Head and Neck Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12347","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12347"},{"label":"UniProt Q9Y4A5","url":"https://www.uniprot.org/uniprotkb/Q9Y4A5/entry"},{"label":"NCBI Gene 8295","url":"https://www.ncbi.nlm.nih.gov/gene/8295"},{"label":"Ensembl ENSG00000196367","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196367"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","rcc","lung-cancer","skin-cancer","salivary-gland","head-and-neck","sarcoma","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 11 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TRRAP","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12347","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12347","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y4A5","url":"https://www.uniprot.org/uniprotkb/Q9Y4A5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196367","url":"https://platform.opentargets.org/target/ENSG00000196367/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.54, gastric cancer 0.52, urinary bladder cancer 0.55, ovarian cancer 0.51, melanoma 0.63, skin cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen TRRAP","url":"https://www.intogen.org/search?gene=TRRAP","note":"driver in 14 cohorts (Act 11, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12347","ensembl":"ENSG00000196367","uniprot":"Q9Y4A5","entrez":"8295","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: McMahon S.B. et al, Cell, 1998, \"The novel ATM-related protein TRRAP is an essential cofactor for the c-Myc and E2F oncoproteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9708738/","biology":"Adapter protein, which is found in various multiprotein chromatin complexes with histone acetyltransferase activity (HAT), which gives a specific tag for epigenetic transcription activation. Component of the NuA4 histone acetyltransferase complex which is responsible for acetylation of nucleosomal histones H4 and H2A. Plays a central role in MYC transcription activation, and also participates in cell transformation by MYC. Required for p53/TP53-, E2F1- and E2F4-mediated transcription activation. Also involved in transcription activation mediated by the adenovirus E1A, a viral oncoprotein that deregulates transcription of key genes. Probably acts by linking transcription factors such as E1A, MYC or E2F1 to HAT complexes such as STAGA thereby allowing transcription activation. Location: Nucleus (UniProt). Locus 7q22.1 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.55 with urinary bladder cancer (MONDO_0001187); IntOGen driver in 4 cohorts (BLCA)","Renal cell carcinoma: IntOGen driver in 2 cohorts (CCRCC)","Lung cancer: Open Targets association 0.57 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Salivary gland cancers: IntOGen driver in 1 cohort (ACYC)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)"],"targetClass":"transcription","prevalence":[]},{"id":"tph1","kind":"target","name":"Tryptophan hydroxylase 1","aka":[],"tldr":"Tryptophan hydroxylase makes serotonin, the hormone that neuroendocrine tumours pour out in carcinoid syndrome; telotristat ethyl blocks the enzyme to cut the diarrhoea that somatostatin analogues leave uncontrolled.","summary":"Tryptophan hydroxylase 1 is the rate-limiting enzyme for serotonin synthesis outside the brain, chiefly in the enterochromaffin cells of the gut. Metastatic neuroendocrine tumours that keep this machinery release large amounts of serotonin, causing the diarrhoea, flushing and eventual heart-valve fibrosis of carcinoid syndrome. Telotristat ethyl, approved in the United States and Europe in 2017, inhibits TPH1 peripherally and reduced bowel movement frequency in the TELESTAR trial when added to somatostatin analogues; it does not cross into the brain, so the brain isoform TPH2 and mood are spared.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Tryptophan_hydroxylase_1","links":[{"label":"UniProt P17752: TPH1","url":"https://www.uniprot.org/uniprotkb/P17752/entry"},{"label":"HGNC:12008 TPH1","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12008"},{"label":"ChEMBL target CHEMBL3831287","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL3831287"}],"tags":["chembl-gap"],"related":["sstr2"],"cancers":["neuroendocrine"],"sections":[],"technologies":[],"targets":[],"drugs":["telotristat-ethyl"],"companies":[],"institutions":[],"pathways":[],"terms":["carcinoid-syndrome"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TPH1","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enhanced in cancer (Uterine Corpus Endometrial Carcinoma (TCGA)) and group enriched in normal choroid plexus, intestine, stomach 1, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA TPH1: RNA group enriched (choroid plexus 6 nTPM, intestine 19 nTPM, stomach 1 15 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (8 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Neuroendocrine tumours); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TPH1 tissue","url":"https://www.proteinatlas.org/ENSG00000129167-TPH1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas TPH1 pathology","url":"https://www.proteinatlas.org/ENSG00000129167-TPH1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000129167 associations","url":"https://platform.opentargets.org/target/ENSG00000129167/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12008","ensembl":"ENSG00000129167","uniprot":"P17752","entrez":"7166","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Boulalard et al, Nucleic Acids Res, 1990, \"Complete coding sequence of human tryptophan hydroxylase\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2377472/","biology":"A cytosolic aromatic amino-acid hydroxylase requiring tetrahydrobiopterin and iron; converts tryptophan to 5-hydroxytryptophan, which is then decarboxylated to serotonin.","whereFound":["Enterochromaffin cells of the gut and pineal gland","Serotonin-secreting neuroendocrine tumours"],"targetClass":"enzyme","prevalence":[{"cancerId":"neuroendocrine","pct":"host","measure":"Host target: serotonin synthesis in enterochromaffin cells. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"tsc1","kind":"target","name":"TSC1","aka":["TSC complex subunit 1","Hamartin","KIAA0243","hamartin"],"tldr":"TSC1 (Hamartin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Bladder & urothelial cancer, Hepatocellular carcinoma, Renal cell carcinoma and 5 more.","summary":"Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth. The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signalling.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 4 variants, naming Everolimus, MTOR Inhibitor and Sirolimus. Open Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes literature 0.97, affected pathway 0.89, genetic association 0.20, somatic mutation 0.95). IntOGen calls it a driver in 14 cohorts (0 activating, 13 loss-of-function), covering Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Colorectal Adenocarcinoma, Hepatocellular Carcinoma, Lung Adenocarcinoma, Renal Cell Carcinoma and others. In OnCo, 1 product record names it (Sirolimus protein-bound particles).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12362","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12362"},{"label":"UniProt Q92574","url":"https://www.uniprot.org/uniprotkb/Q92574/entry"},{"label":"NCBI Gene 7248","url":"https://www.ncbi.nlm.nih.gov/gene/7248"},{"label":"Ensembl ENSG00000165699","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165699"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","hcc","rcc","skin-cancer","colorectal","breast-cancer","gastric","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":["sirolimus-albumin-bound"],"companies":[],"institutions":[],"pathways":["pi3k-akt-mtor"],"terms":[],"trials":["nct05103358"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; IntOGen calls it a loss-of-function (LoF) driver in 13 cohorts; CIViC holds 9 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Tuberous Sclerosis; Invasive Bladder Transitional Cell Carcinoma."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TSC1","role":["drug-target","tumour-suppressor","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:12362","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12362","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92574","url":"https://www.uniprot.org/uniprotkb/Q92574/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TSC1","url":"https://civicdb.org/features/46","note":"9 evidence items, 0 assertions, 4 variants; diseases: Tuberous Sclerosis, Renal Cell Carcinoma, Bladder Carcinoma, Lung Adenocarcinoma, Invasive Bladder Transitional Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000165699","url":"https://platform.opentargets.org/target/ENSG00000165699/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: colorectal cancer 0.53, urinary bladder cancer 0.73, renal cell carcinoma 0.57, melanoma 0.59, skin cancer 0.59 (GraphQL API, CC0)"},{"label":"IntOGen TSC1","url":"https://www.intogen.org/search?gene=TSC1","note":"driver in 14 cohorts (Act 0, LoF 13); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Sirolimus protein-bound particles) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA TSC1: RNA low tissue specificity; high antibody staining in 6 normal tissues; highest cancer staining head and neck cancer (1 of 4 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Hepatocellular carcinoma, Renal cell carcinoma, Skin cancer (all types), Colorectal cancer, Breast cancer (all types), Gastric & gastro-oesophageal junction cancer and more); approvals of single-target medicines aimed at it also list Sarcomas (soft tissue, bone, GIST), not counted; Open Targets associates it with 6 specific cancer types at or above 0.5 (tuberous sclerosis, tuberous sclerosis 1, lymphangioleiomyomatosis, urinary bladder cancer, urinary bladder carcinoma, hereditary neoplastic syndrome). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TSC1 tissue","url":"https://www.proteinatlas.org/ENSG00000165699-TSC1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000165699 associations","url":"https://platform.opentargets.org/target/ENSG00000165699/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12362","ensembl":"ENSG00000165699","uniprot":"Q92574","entrez":"7248","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1996, \"Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9039502/","biology":"Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth. The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signalling. The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1. Within the TSC-TBC complex, TSC1 stabilises TSC2 and prevents TSC2 self-aggregation. Acts as a tumour suppressor. Location: Lysosome membrane; Cytoplasm, cytosol (UniProt). Locus 9q34.13 (HGNC).","whereFound":["Bladder & urothelial cancer: Open Targets association 0.73 with urinary bladder cancer (MONDO_0001187); CIViC evidence names this disease","Hepatocellular carcinoma: IntOGen driver in 3 cohorts (HCC)","Renal cell carcinoma: Open Targets association 0.57 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease","Skin cancer: Open Targets association 0.59 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.53 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tsc2","kind":"target","name":"TSC2","aka":["TSC complex subunit 2","Tuberin","tuberin","PPP1R160","TSC4"],"tldr":"TSC2 (Tuberin) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Hepatocellular carcinoma, Renal cell carcinoma, Thyroid cancer and 5 more.","summary":"Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth. Within the TSC-TBC complex, TSC2 acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signalling.\n\nCIViC holds 5 clinical evidence items and 0 assertions across 4 variants, naming Everolimus and MTOR Inhibitor. Open Targets scores its association with cancer at 0.80 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.71, genetic association 0.63, somatic mutation 0.90). IntOGen calls it a driver in 15 cohorts (6 activating, 8 loss-of-function), covering Angiosarcoma, Bladder Urothelial Carcinoma, Cholangiocarcinoma, Chromophobe Renal Cell Carcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma and others. In OnCo, 1 product record names it (Sirolimus protein-bound particles).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12363","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12363"},{"label":"UniProt P49815","url":"https://www.uniprot.org/uniprotkb/P49815/entry"},{"label":"NCBI Gene 7249","url":"https://www.ncbi.nlm.nih.gov/gene/7249"},{"label":"Ensembl ENSG00000103197","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000103197"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["hcc","rcc","thyroid","neuroendocrine","urothelial","esophageal","pancreatic","gastric"],"sections":[],"technologies":[],"targets":[],"drugs":["sirolimus-albumin-bound"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct05103358"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; IntOGen calls it an activating (Act) driver in 6 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 8 cohorts; CIViC holds 5 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Tuberous Sclerosis."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TSC2","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:12363","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12363","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49815","url":"https://www.uniprot.org/uniprotkb/P49815/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TSC2","url":"https://civicdb.org/features/47","note":"5 evidence items, 0 assertions, 4 variants; diseases: Tuberous Sclerosis, Thyroid Gland Carcinoma, Renal Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000103197","url":"https://platform.opentargets.org/target/ENSG00000103197/associations","note":"association with cancer (MONDO_0004992) 0.80; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.53, colorectal cancer 0.54, hepatocellular carcinoma 0.60, renal cell carcinoma 0.57, ovarian cancer 0.51, melanoma 0.57 (GraphQL API, CC0)"},{"label":"IntOGen TSC2","url":"https://www.intogen.org/search?gene=TSC2","note":"driver in 15 cohorts (Act 6, LoF 8); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (Sirolimus protein-bound particles) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA TSC2: RNA low tissue specificity; no normal tissue stained high; highest cancer staining liver cancer (6 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma, Renal cell carcinoma, Thyroid cancer, Neuroendocrine tumours, Bladder & urothelial cancer, Oesophageal cancer, Pancreatic ductal adenocarcinoma and more); approvals of single-target medicines aimed at it also list Sarcomas (soft tissue, bone, GIST), not counted; Open Targets associates it with 8 specific cancer types at or above 0.5 (tuberous sclerosis, tuberous sclerosis 2, lymphangioleiomyomatosis, hepatocellular carcinoma, hereditary neoplastic syndrome, familial adenomatous polyposis 3 and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TSC2 tissue","url":"https://www.proteinatlas.org/ENSG00000103197-TSC2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000103197 associations","url":"https://platform.opentargets.org/target/ENSG00000103197/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12363","ensembl":"ENSG00000103197","uniprot":"P49815","entrez":"7249","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nellist et al, Cell, 1993, \"Identification and characterization of the tuberous sclerosis gene on chromosome 16\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8269512/","biology":"Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth. Within the TSC-TBC complex, TSC2 acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signalling. The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1. Involved in microtubule-mediated protein transport via its ability to regulate mTORC1 signalling. Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5. Location: Lysosome membrane; Cytoplasm, cytosol (UniProt). Locus 16p13.3 (HGNC).","whereFound":["Hepatocellular carcinoma: Open Targets association 0.60 with hepatocellular carcinoma (MONDO_0007256); IntOGen driver in 5 cohorts (HCC)","Renal cell carcinoma: Open Targets association 0.57 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease","Thyroid cancer: CIViC evidence names this disease","Neuroendocrine tumours: Open Targets association 0.57 with neuroendocrine neoplasm (MONDO_0019496); IntOGen driver in 1 cohort (PANET)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"tshr","kind":"target","name":"TSH receptor (TSHR)","aka":[],"tldr":"The TSH receptor tells thyroid cells to take up iodine; recombinant TSH (thyrotropin alfa) stimulates it so that radioactive iodine can find and destroy leftover thyroid cancer.","summary":"The thyrotropin receptor on thyroid follicular cells drives iodine uptake and thyroglobulin production. After surgery for differentiated thyroid cancer, thyrotropin alfa (recombinant human TSH) stimulates the receptor on remaining normal and cancerous thyroid tissue so that radioiodine scanning and ablation work without stopping thyroid hormone replacement. Loss of TSHR and iodine transporter expression marks radioiodine-refractory disease.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Thyrotropin_receptor","links":[{"label":"UniProt P16473: TSHR","url":"https://www.uniprot.org/uniprotkb/P16473/entry"},{"label":"HGNC:12373 TSHR","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12373"},{"label":"ChEMBL target CHEMBL1963","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL1963"}],"tags":[],"related":[],"cancers":["thyroid"],"sections":[],"technologies":[],"targets":[],"drugs":["thyrotropin-alfa"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TSHR","role":[],"sources":[],"specificity":"tumour-associated","distribution":"one-type","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enriched in cancer (Thyroid Carcinoma (TCGA)) and tissue enriched in normal thyroid gland, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA TSHR: RNA tissue enriched (thyroid gland 257 nTPM); blood lineage group enriched (B-cells 2 nTPM, T-cells 7 nTPM); high antibody staining in 1 normal tissue; highest cancer staining liver cancer (1 of 11 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Thyroid cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TSHR tissue","url":"https://www.proteinatlas.org/ENSG00000165409-TSHR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas TSHR pathology","url":"https://www.proteinatlas.org/ENSG00000165409-TSHR/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000165409 associations","url":"https://platform.opentargets.org/target/ENSG00000165409/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12373","ensembl":"ENSG00000165409","uniprot":"P16473","entrez":"7253","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagayama et al, Biochem. Biophys. Res. Commun, 1989, \"Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2558651/","biology":"A G protein-coupled receptor signalling through cAMP; activating mutations cause hyperfunctioning nodules.","whereFound":["Thyroid follicular cells and differentiated thyroid cancers","Lost in dedifferentiated, radioiodine-refractory tumours"],"targetClass":"other","prevalence":[{"cancerId":"thyroid","pct":"host","measure":"Host target: TSH receptor on thyroid cells, used to drive radioiodine uptake. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"tspyl1","kind":"target","name":"TSPYL1","aka":["TSPY like 1","Testis-specific Y-encoded-like protein 1","TSPYL"],"tldr":"TSPYL1 (Testis-specific Y-encoded-like protein 1) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Prostate cancer.","summary":"UniProt has no function text for Q9H0U9; HGNC names it \"TSPY like 1\".\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Abiraterone and Prednisone.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12382","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12382"},{"label":"UniProt Q9H0U9","url":"https://www.uniprot.org/uniprotkb/Q9H0U9/entry"},{"label":"NCBI Gene 7259","url":"https://www.ncbi.nlm.nih.gov/gene/7259"},{"label":"Ensembl ENSG00000189241","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000189241"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TSPYL1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12382","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12382","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H0U9","url":"https://www.uniprot.org/uniprotkb/Q9H0U9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TSPYL1","url":"https://civicdb.org/features/5939","note":"2 evidence items, 0 assertions, 2 variants; diseases: Prostate Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TSPYL1: RNA low tissue specificity; high antibody staining in 26 normal tissues; highest cancer staining thyroid cancer (4 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Prostate cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (sudden infant death-dysgenesis of the testes syndrome). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TSPYL1 tissue","url":"https://www.proteinatlas.org/ENSG00000189241-TSPYL1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000189241 associations","url":"https://platform.opentargets.org/target/ENSG00000189241/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12382","ensembl":"ENSG00000189241","uniprot":"Q9H0U9","entrez":"7259","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Vogel et al, Cytogenet. Cell Genet, 1998, \"Murine and human TSPYL genes: novel members of the TSPY-SET-NAP1L1 family\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9730615/","biology":"UniProt has no function text for Q9H0U9; HGNC names it \"TSPY like 1\". Location: Nucleus, nucleolus (UniProt). Locus 6q22.1 (HGNC).","whereFound":["Prostate cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ttf1","kind":"target","name":"TTF1","aka":["transcription termination factor 1","Transcription termination factor 1"],"tldr":"TTF1 (Transcription termination factor 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-small-cell lung cancer.","summary":"Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12397","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12397"},{"label":"UniProt Q15361","url":"https://www.uniprot.org/uniprotkb/Q15361/entry"},{"label":"NCBI Gene 7270","url":"https://www.ncbi.nlm.nih.gov/gene/7270"},{"label":"Ensembl ENSG00000125482","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125482"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TTF1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12397","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12397","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15361","url":"https://www.uniprot.org/uniprotkb/Q15361/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TTF1","url":"https://civicdb.org/features/80","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Adenocarcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists TTF1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TTF1: RNA low tissue specificity; high antibody staining in 21 normal tissues; highest cancer staining testis cancer (11 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TTF1 tissue","url":"https://www.proteinatlas.org/ENSG00000125482-TTF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000125482 associations","url":"https://platform.opentargets.org/target/ENSG00000125482/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12397","ensembl":"ENSG00000125482","uniprot":"Q15361","entrez":"7270","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Evers et al, Proc. Natl. Acad. Sci. U.S.A, 1995, \"Molecular evolution of mammalian ribosomal gene terminator sequences and the transcription termination factor TTF-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7597036/","biology":"Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity. Location: Nucleus; Nucleus, nucleolus; Nucleus, nucleoplasm (UniProt). Locus 9q34.13 (HGNC).","whereFound":["Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"tuba1a","kind":"target","name":"TUBA1A","aka":["tubulin alpha 1a","Tubulin alpha-1A chain","TUBA3","B-ALPHA-1","FLJ25113"],"tldr":"TUBA1A (Tubulin alpha-1A chain) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.55, animal model 0.55, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20766","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20766"},{"label":"UniProt Q71U36","url":"https://www.uniprot.org/uniprotkb/Q71U36/entry"},{"label":"NCBI Gene 7846","url":"https://www.ncbi.nlm.nih.gov/gene/7846"},{"label":"Ensembl ENSG00000167552","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167552"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","non-hodgkin-lymphoma","prostate","hodgkin-lymphoma","cervical","multiple-myeloma","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBA1A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20766","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20766","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q71U36","url":"https://www.uniprot.org/uniprotkb/Q71U36/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000167552","url":"https://platform.opentargets.org/target/ENSG00000167552/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.54, prostate cancer 0.59, ovarian cancer 0.57, cervical cancer 0.59, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBA1A: RNA tissue enhanced (brain 2,690 nTPM); high antibody staining in 35 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Lymphoma, Prostate cancer, Cervical cancer, Multiple myeloma, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, non-small cell lung carcinoma, breast carcinoma, Hodgkins lymphoma, cervical cancer, plasma cell myeloma and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBA1A tissue","url":"https://www.proteinatlas.org/ENSG00000167552-TUBA1A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167552 associations","url":"https://platform.opentargets.org/target/ENSG00000167552/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20766","ensembl":"ENSG00000167552","uniprot":"Q71U36","entrez":"7846","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cowan N.J. et al, Mol. Cell. Biol, 1983, \"Expression of human alpha-tubulin genes: interspecies conservation of 3' untranslated regions\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6646120/","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, flagellum axoneme (UniProt). Locus 12q13.12 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.61 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Cervical cancer: Open Targets association 0.59 with cervical cancer (MONDO_0002974)"],"targetClass":"enzyme","prevalence":[]},{"id":"tuba1b","kind":"target","name":"TUBA1B","aka":["tubulin alpha 1b","Tubulin alpha-1B chain","K-ALPHA-1"],"tldr":"TUBA1B (Tubulin alpha-1B chain) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Prostate cancer and 5 more.","summary":"Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18809","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18809"},{"label":"UniProt P68363","url":"https://www.uniprot.org/uniprotkb/P68363/entry"},{"label":"NCBI Gene 10376","url":"https://www.ncbi.nlm.nih.gov/gene/10376"},{"label":"Ensembl ENSG00000123416","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000123416"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","prostate","non-hodgkin-lymphoma","multiple-myeloma","hodgkin-lymphoma","cervical","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBA1B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:18809","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18809","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P68363","url":"https://www.uniprot.org/uniprotkb/P68363/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000123416","url":"https://platform.opentargets.org/target/ENSG00000123416/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.54, prostate cancer 0.60, ovarian cancer 0.57, cervical cancer 0.59, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists TUBA1B among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TUBA1B: RNA low tissue specificity; high antibody staining in 35 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Prostate cancer, Lymphoma, Multiple myeloma, Cervical cancer, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, breast carcinoma, non-small cell lung carcinoma, plasma cell myeloma, Hodgkins lymphoma, cervical cancer and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TUBA1B tissue","url":"https://www.proteinatlas.org/ENSG00000123416-TUBA1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000123416 associations","url":"https://platform.opentargets.org/target/ENSG00000123416/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18809","ensembl":"ENSG00000123416","uniprot":"P68363","entrez":"10376","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cowan N.J. et al, Mol. Cell. Biol, 1983, \"Expression of human alpha-tubulin genes: interspecies conservation of 3' untranslated regions\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6646120/","biology":"Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton (UniProt). Locus 12q13.12 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.63 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.61 with lung cancer (MONDO_0008903)","Prostate cancer: Open Targets association 0.60 with prostate cancer (MONDO_0008315)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Multiple myeloma: Open Targets association 0.59 with plasma cell myeloma (MONDO_0009693)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)"],"targetClass":"enzyme","prevalence":[]},{"id":"tuba1c","kind":"target","name":"TUBA1C","aka":["tubulin alpha 1c","Tubulin alpha-1C chain","MGC14580","MGC10851","bcm948","TUBA6"],"tldr":"TUBA1C (Tubulin alpha-1C chain) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Prostate cancer, Breast cancer, Lung cancer and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.43, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20768"},{"label":"UniProt Q9BQE3","url":"https://www.uniprot.org/uniprotkb/Q9BQE3/entry"},{"label":"NCBI Gene 84790","url":"https://www.ncbi.nlm.nih.gov/gene/84790"},{"label":"Ensembl ENSG00000167553","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000167553"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate","breast-cancer","lung-cancer","non-hodgkin-lymphoma","hodgkin-lymphoma","cervical","sarcoma","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBA1C","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20768","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20768","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BQE3","url":"https://www.uniprot.org/uniprotkb/Q9BQE3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000167553","url":"https://platform.opentargets.org/target/ENSG00000167553/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.55, prostate cancer 0.67, ovarian cancer 0.56, cervical cancer 0.59, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA lists TUBA1C among essential proteins; a medicine acting on the wild-type protein would expose normal tissue too. HPA TUBA1C: RNA tissue enhanced (esophagus 436 nTPM); high antibody staining in 35 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Breast cancer (all types), Lung cancer (all types), Lymphoma, Cervical cancer, Sarcomas (soft tissue, bone, GIST), Multiple myeloma); Open Targets associates it with 19 specific cancer types at or above 0.5 (prostate cancer, breast cancer, breast carcinoma, non-small cell lung carcinoma, Hodgkins lymphoma, cervical cancer and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TUBA1C tissue","url":"https://www.proteinatlas.org/ENSG00000167553-TUBA1C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000167553 associations","url":"https://platform.opentargets.org/target/ENSG00000167553/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20768","ensembl":"ENSG00000167553","uniprot":"Q9BQE3","entrez":"84790","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton (UniProt). Locus 12q13.12 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.67 with prostate cancer (MONDO_0008315)","Breast cancer: Open Targets association 0.63 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.61 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Cervical cancer: Open Targets association 0.59 with cervical cancer (MONDO_0002974)"],"targetClass":"enzyme","prevalence":[]},{"id":"tuba3c","kind":"target","name":"TUBA3C","aka":["tubulin alpha 3c","Tubulin alpha-3C chain","bA408E5.3","TUBA2"],"tldr":"TUBA3C (Tubulin alpha-3C chain) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.05, genetic association 0.23, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12408","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12408"},{"label":"UniProt P0DPH7","url":"https://www.uniprot.org/uniprotkb/P0DPH7/entry"},{"label":"NCBI Gene 7278","url":"https://www.ncbi.nlm.nih.gov/gene/7278"},{"label":"Ensembl ENSG00000198033","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198033"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","non-hodgkin-lymphoma","prostate","hodgkin-lymphoma","cervical","multiple-myeloma","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBA3C","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:12408","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12408","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0DPH7","url":"https://www.uniprot.org/uniprotkb/P0DPH7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198033","url":"https://platform.opentargets.org/target/ENSG00000198033/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, gastric cancer 0.53, prostate cancer 0.59, ovarian cancer 0.56, cervical cancer 0.58, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBA3C: RNA tissue enriched (testis 390 nTPM); no normal tissue stained high; highest cancer staining carcinoid (2 of 4 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Lymphoma, Prostate cancer, Cervical cancer, Multiple myeloma, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, non-small cell lung carcinoma, breast carcinoma, Hodgkins lymphoma, cervical cancer, plasma cell myeloma and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBA3C tissue","url":"https://www.proteinatlas.org/ENSG00000198033-TUBA3C/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000198033 associations","url":"https://platform.opentargets.org/target/ENSG00000198033/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12408","ensembl":"ENSG00000198033","uniprot":"P0DPH7","entrez":"7278","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bonaldo et al, 1993, \"The alpha-tubulin gene on chromosome 13 (TUBA2) encodes a testis-specific isotype\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/P0DPH7/entry","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton (UniProt). Locus 13q12.11 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Cervical cancer: Open Targets association 0.58 with cervical cancer (MONDO_0002974)"],"targetClass":"enzyme","prevalence":[]},{"id":"tuba3e","kind":"target","name":"TUBA3E","aka":["tubulin alpha 3e","Tubulin alpha-3E chain"],"tldr":"TUBA3E (Tubulin alpha-3E chain) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.17, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20765","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20765"},{"label":"UniProt Q6PEY2","url":"https://www.uniprot.org/uniprotkb/Q6PEY2/entry"},{"label":"NCBI Gene 112714","url":"https://www.ncbi.nlm.nih.gov/gene/112714"},{"label":"Ensembl ENSG00000152086","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000152086"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","non-hodgkin-lymphoma","prostate","hodgkin-lymphoma","cervical","multiple-myeloma","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBA3E","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20765","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20765","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6PEY2","url":"https://www.uniprot.org/uniprotkb/Q6PEY2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000152086","url":"https://platform.opentargets.org/target/ENSG00000152086/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, gastric cancer 0.53, prostate cancer 0.59, ovarian cancer 0.56, cervical cancer 0.58, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBA3E: RNA group enriched (heart muscle 51 nTPM, testis 169 nTPM); no normal tissue stained high; highest cancer staining carcinoid (2 of 4 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Lymphoma, Prostate cancer, Cervical cancer, Multiple myeloma, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, non-small cell lung carcinoma, breast carcinoma, Hodgkins lymphoma, cervical cancer, plasma cell myeloma and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBA3E tissue","url":"https://www.proteinatlas.org/ENSG00000152086-TUBA3E/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000152086 associations","url":"https://platform.opentargets.org/target/ENSG00000152086/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20765","ensembl":"ENSG00000152086","uniprot":"Q6PEY2","entrez":"112714","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton (UniProt). Locus 2q21.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Cervical cancer: Open Targets association 0.58 with cervical cancer (MONDO_0002974)"],"targetClass":"enzyme","prevalence":[]},{"id":"tuba4a","kind":"target","name":"TUBA4A","aka":["tubulin alpha 4a","Tubulin alpha-4A chain","FLJ30169","H2-ALPHA","TUBA1"],"tldr":"TUBA4A (Tubulin alpha-4A chain) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.40, animal model 0.58, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12407","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12407"},{"label":"UniProt P68366","url":"https://www.uniprot.org/uniprotkb/P68366/entry"},{"label":"NCBI Gene 7277","url":"https://www.ncbi.nlm.nih.gov/gene/7277"},{"label":"Ensembl ENSG00000127824","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000127824"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","non-hodgkin-lymphoma","prostate","sarcoma","hodgkin-lymphoma","cervical","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBA4A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:12407","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12407","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P68366","url":"https://www.uniprot.org/uniprotkb/P68366/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000127824","url":"https://platform.opentargets.org/target/ENSG00000127824/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.53, prostate cancer 0.59, ovarian cancer 0.56, cervical cancer 0.59, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBA4A: RNA tissue enhanced (skeletal muscle 346 nTPM, tongue 249 nTPM); high antibody staining in 35 normal tissues; highest cancer staining carcinoid (2 of 4 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Lymphoma, Prostate cancer, Sarcomas (soft tissue, bone, GIST), Cervical cancer, Multiple myeloma); Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, non-small cell lung carcinoma, breast carcinoma, Hodgkins lymphoma, cervical cancer, plasma cell myeloma and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBA4A tissue","url":"https://www.proteinatlas.org/ENSG00000127824-TUBA4A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000127824 associations","url":"https://platform.opentargets.org/target/ENSG00000127824/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12407","ensembl":"ENSG00000127824","uniprot":"P68366","entrez":"7277","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dobner P.R. et al, Nucleic Acids Res, 1987, \"Alternative 5' exons either provide or deny an initiator methionine codon to the same alpha-tubulin coding region\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3029670/","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton (UniProt). Locus 2q35 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.62 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.61 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)","Sarcomas: Open Targets association 0.59 with sarcoma (MONDO_0005089)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)"],"targetClass":"enzyme","prevalence":[]},{"id":"tubb1","kind":"target","name":"TUBB1","aka":["tubulin beta 1 class VI","Tubulin beta-1 chain","dJ543J19.4"],"tldr":"TUBB1 (Tubulin beta-1 chain) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.20, animal model 0.43, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16257","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16257"},{"label":"UniProt Q9H4B7","url":"https://www.uniprot.org/uniprotkb/Q9H4B7/entry"},{"label":"NCBI Gene 81027","url":"https://www.ncbi.nlm.nih.gov/gene/81027"},{"label":"Ensembl ENSG00000101162","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000101162"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","non-hodgkin-lymphoma","prostate","hodgkin-lymphoma","multiple-myeloma","cervical","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBB1","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:16257","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16257","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H4B7","url":"https://www.uniprot.org/uniprotkb/Q9H4B7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000101162","url":"https://platform.opentargets.org/target/ENSG00000101162/associations","note":"association with cancer (MONDO_0004992) 0.62; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.53, prostate cancer 0.59, ovarian cancer 0.56, cervical cancer 0.58, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBB1: RNA tissue enhanced (bone marrow 8 nTPM, lymphoid tissue 4 nTPM); blood lineage lineage enriched (granulocytes 63 nTPM); high antibody staining in 1 normal tissue; highest cancer staining testis cancer (3 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Lymphoma, Prostate cancer, Multiple myeloma, Cervical cancer, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, non-small cell lung carcinoma, breast carcinoma, Hodgkins lymphoma, plasma cell myeloma, cervical cancer and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBB1 tissue","url":"https://www.proteinatlas.org/ENSG00000101162-TUBB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000101162 associations","url":"https://platform.opentargets.org/target/ENSG00000101162/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16257","ensembl":"ENSG00000101162","uniprot":"Q9H4B7","entrez":"81027","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gross et al, 2000, \"Mapping and characterization of the human TUBB1 gene\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9H4B7/entry","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton (UniProt). Locus 20q13.32 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.61 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Multiple myeloma: Open Targets association 0.58 with plasma cell myeloma (MONDO_0009693)"],"targetClass":"other","prevalence":[]},{"id":"tubb2a","kind":"target","name":"TUBB2A","aka":["tubulin beta 2A class IIa","Tubulin beta-2A chain","dJ40E16.7","TUBB2"],"tldr":"TUBB2A (Tubulin beta-2A chain) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.84, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12412","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12412"},{"label":"UniProt Q13885","url":"https://www.uniprot.org/uniprotkb/Q13885/entry"},{"label":"NCBI Gene 7280","url":"https://www.ncbi.nlm.nih.gov/gene/7280"},{"label":"Ensembl ENSG00000137267","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137267"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","non-hodgkin-lymphoma","prostate","hodgkin-lymphoma","cervical","multiple-myeloma","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBB2A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:12412","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12412","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13885","url":"https://www.uniprot.org/uniprotkb/Q13885/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137267","url":"https://platform.opentargets.org/target/ENSG00000137267/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.55, prostate cancer 0.59, ovarian cancer 0.56, cervical cancer 0.58, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBB2A: RNA tissue enriched (brain 542 nTPM); blood lineage group enriched (B-cells 3 nTPM, monocytes 2 nTPM, T-cells 3 nTPM); high antibody staining in 3 normal tissues. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Lymphoma, Prostate cancer, Cervical cancer, Multiple myeloma, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, breast carcinoma, non-small cell lung carcinoma, Hodgkins lymphoma, cervical cancer, plasma cell myeloma and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBB2A tissue","url":"https://www.proteinatlas.org/ENSG00000137267-TUBB2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137267 associations","url":"https://platform.opentargets.org/target/ENSG00000137267/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12412","ensembl":"ENSG00000137267","uniprot":"Q13885","entrez":"7280","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Leffers et al, 1994, \"Cloning and vaccinia virus expression of a cDNA containing the complete coding sequence of human beta tubulin mRNA\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q13885/entry","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton (UniProt). Locus 6p25.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.62 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.61 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Cervical cancer: Open Targets association 0.58 with cervical cancer (MONDO_0002974)"],"targetClass":"other","prevalence":[]},{"id":"tubb2b","kind":"target","name":"TUBB2B","aka":["tubulin beta 2B class IIb","Tubulin beta-2B chain","MGC8685","DKFZp566F223","bA506K6.1"],"tldr":"TUBB2B (Tubulin beta-2B chain) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Sarcomas and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.84, animal model 0.68, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30829","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30829"},{"label":"UniProt Q9BVA1","url":"https://www.uniprot.org/uniprotkb/Q9BVA1/entry"},{"label":"NCBI Gene 347733","url":"https://www.ncbi.nlm.nih.gov/gene/347733"},{"label":"Ensembl ENSG00000137285","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137285"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","sarcoma","prostate","non-hodgkin-lymphoma","hodgkin-lymphoma","cervical","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBB2B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:30829","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30829","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BVA1","url":"https://www.uniprot.org/uniprotkb/Q9BVA1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000137285","url":"https://platform.opentargets.org/target/ENSG00000137285/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.54, prostate cancer 0.60, ovarian cancer 0.56, cervical cancer 0.58, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBB2B: RNA tissue enriched (brain 596 nTPM); high antibody staining in 1 normal tissue. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Sarcomas (soft tissue, bone, GIST), Prostate cancer, Lymphoma, Cervical cancer, Multiple myeloma); Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, breast carcinoma, non-small cell lung carcinoma, Hodgkins lymphoma, cervical cancer, plasma cell myeloma and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBB2B tissue","url":"https://www.proteinatlas.org/ENSG00000137285-TUBB2B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137285 associations","url":"https://platform.opentargets.org/target/ENSG00000137285/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:30829","ensembl":"ENSG00000137285","uniprot":"Q9BVA1","entrez":"347733","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Mungall A.J. et al, Nature, 2003, \"The DNA sequence and analysis of human chromosome 6\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14574404/","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Plays a critical role in proper axon guidance in both central and peripheral axon tracts. Implicated in neuronal migration. Location: Cytoplasm, cytoskeleton (UniProt). Locus 6p25.2 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.62 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Sarcomas: Open Targets association 0.60 with sarcoma (MONDO_0005089)","Prostate cancer: Open Targets association 0.60 with prostate cancer (MONDO_0008315)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)"],"targetClass":"other","prevalence":[]},{"id":"tubb3","kind":"target","name":"TUBB3","aka":["tubulin beta 3 class III","Tubulin beta-3 chain","beta-4","CFEOM3","CFEOM3A","FEOM3"],"tldr":"TUBB3 (Tubulin beta-3 chain) is a gene. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Prostate cancer and 5 more.","summary":"Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, alpha-beta tubulin heterodimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Paclitaxel and Taxane Compound. Open Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes clinical 1.00, affected pathway 0.61, literature 0.95, genetic association 0.28, somatic mutation 0.23, animal model 0.36).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20772","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20772"},{"label":"UniProt Q13509","url":"https://www.uniprot.org/uniprotkb/Q13509/entry"},{"label":"NCBI Gene 10381","url":"https://www.ncbi.nlm.nih.gov/gene/10381"},{"label":"Ensembl ENSG00000258947","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000258947"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","lung-cancer","prostate","non-hodgkin-lymphoma","hodgkin-lymphoma","sarcoma","cervical","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBB3","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20772","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20772","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13509","url":"https://www.uniprot.org/uniprotkb/Q13509/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TUBB3","url":"https://civicdb.org/features/8262","note":"2 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000258947","url":"https://platform.opentargets.org/target/ENSG00000258947/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.62, gastric cancer 0.55, prostate cancer 0.63, ovarian cancer 0.58, cervical cancer 0.59, head and neck squamous cell carcinoma 0.54 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBB3: RNA tissue enriched (brain 344 nTPM); blood lineage lineage enriched (B-cells 3 nTPM); high antibody staining in 2 normal tissues. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Prostate cancer, Lymphoma, Sarcomas (soft tissue, bone, GIST), Cervical cancer, Multiple myeloma); Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, non-small cell lung carcinoma, breast carcinoma, prostate cancer, Hodgkins lymphoma, cervical cancer and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBB3 tissue","url":"https://www.proteinatlas.org/ENSG00000258947-TUBB3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000258947 associations","url":"https://platform.opentargets.org/target/ENSG00000258947/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20772","ensembl":"ENSG00000258947","uniprot":"Q13509","entrez":"10381","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ranganathan et al, Biochim. Biophys. Acta, 1998, \"Cloning and sequencing of human betaIII-tubulin cDNA: induction of betaIII isotype in human prostate carcinoma cells by acute exposure to antimicrotubule agents\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9473684/","biology":"Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, alpha-beta tubulin heterodimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. TUBB3 plays a critical role in proper axon guidance and maintenance. Binding of NTN1/Netrin-1 to its receptor UNC5C might cause dissociation of UNC5C from polymerised TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion. Plays a role in dorsal root ganglion axon projection towards the spinal cord. Location: Cytoplasm, cytoskeleton; Cell projection, growth cone; Cell projection, lamellipodium; Cell projection, filopodium (UniProt). Locus 16q24.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.63 with breast cancer (MONDO_0007254); CIViC evidence names this disease","Lung cancer: Open Targets association 0.63 with lung cancer (MONDO_0008903)","Prostate cancer: Open Targets association 0.63 with prostate cancer (MONDO_0008315)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Sarcomas: Open Targets association 0.59 with sarcoma (MONDO_0005089)"],"targetClass":"other","prevalence":[]},{"id":"tubb4a","kind":"target","name":"TUBB4A","aka":["tubulin beta 4A class IVa","Tubulin beta-4A chain","beta-5","TUBB4","DYT4"],"tldr":"TUBB4A (Tubulin beta-4A chain) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Prostate cancer, Breast cancer, Lung cancer and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes literature 0.87, animal model 0.53, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20774"},{"label":"UniProt P04350","url":"https://www.uniprot.org/uniprotkb/P04350/entry"},{"label":"NCBI Gene 10382","url":"https://www.ncbi.nlm.nih.gov/gene/10382"},{"label":"Ensembl ENSG00000104833","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104833"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate","breast-cancer","lung-cancer","non-hodgkin-lymphoma","sarcoma","hodgkin-lymphoma","cervical","multiple-myeloma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBB4A","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20774","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P04350","url":"https://www.uniprot.org/uniprotkb/P04350/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000104833","url":"https://platform.opentargets.org/target/ENSG00000104833/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.53, prostate cancer 0.62, ovarian cancer 0.56, cervical cancer 0.58, head and neck squamous cell carcinoma 0.54 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBB4A: RNA tissue enriched (brain 1,156 nTPM); blood lineage group enriched (B-cells 4 nTPM, T-cells 5 nTPM); high antibody staining in 1 normal tissue. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Prostate cancer, Breast cancer (all types), Lung cancer (all types), Lymphoma, Sarcomas (soft tissue, bone, GIST), Cervical cancer, Multiple myeloma); Open Targets associates it with 19 specific cancer types at or above 0.5 (non-small cell lung carcinoma, breast cancer, breast carcinoma, prostate cancer, Hodgkins lymphoma, diffuse large B-cell lymphoma and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBB4A tissue","url":"https://www.proteinatlas.org/ENSG00000104833-TUBB4A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000104833 associations","url":"https://platform.opentargets.org/target/ENSG00000104833/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20774","ensembl":"ENSG00000104833","uniprot":"P04350","entrez":"10382","firstDescribed":1984,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee M.G.-S. et al, Nucleic Acids Res, 1984, \"Sequence of an expressed human beta-tubulin gene containing ten Alu family members\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6462917/","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton (UniProt). Locus 19p13.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.62 with prostate cancer (MONDO_0008315)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.61 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Sarcomas: Open Targets association 0.59 with sarcoma (MONDO_0005089)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)"],"targetClass":"other","prevalence":[]},{"id":"tubb4b","kind":"target","name":"TUBB4B","aka":["tubulin beta 4B class IVb","Tubulin beta-4B chain","Beta2","TUBB2C"],"tldr":"TUBB4B (Tubulin beta-4B chain) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Lung cancer, Breast cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.54, affected pathway 0.25, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20771","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20771"},{"label":"UniProt P68371","url":"https://www.uniprot.org/uniprotkb/P68371/entry"},{"label":"NCBI Gene 10383","url":"https://www.ncbi.nlm.nih.gov/gene/10383"},{"label":"Ensembl ENSG00000188229","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000188229"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer","breast-cancer","non-hodgkin-lymphoma","prostate","hodgkin-lymphoma","cervical","multiple-myeloma","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBB4B","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20771","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20771","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P68371","url":"https://www.uniprot.org/uniprotkb/P68371/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000188229","url":"https://platform.opentargets.org/target/ENSG00000188229/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.62, gastric cancer 0.57, prostate cancer 0.59, ovarian cancer 0.57, cervical cancer 0.58, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TUBB4B: RNA low tissue specificity; high antibody staining in 7 normal tissues; highest cancer staining glioma (5 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Breast cancer (all types), Lymphoma, Prostate cancer, Cervical cancer, Multiple myeloma, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 19 specific cancer types at or above 0.5 (non-small cell lung carcinoma, breast cancer, breast carcinoma, Hodgkins lymphoma, plasma cell myeloma, cervical cancer and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TUBB4B tissue","url":"https://www.proteinatlas.org/ENSG00000188229-TUBB4B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000188229 associations","url":"https://platform.opentargets.org/target/ENSG00000188229/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20771","ensembl":"ENSG00000188229","uniprot":"P68371","entrez":"10383","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lewis S.A. et al, J. Mol. Biol, 1985, \"Three expressed sequences within the human beta-tubulin multigene family each define a distinct isotype\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/3999141/","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, flagellum axoneme (UniProt). Locus 9q34.3 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.62 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Cervical cancer: Open Targets association 0.58 with cervical cancer (MONDO_0002974)"],"targetClass":"other","prevalence":[]},{"id":"tubb6","kind":"target","name":"TUBB6","aka":["tubulin beta 6 class V","Tubulin beta-6 chain","MGC4083","HsT1601"],"tldr":"TUBB6 (Tubulin beta-6 chain) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Lung cancer, Breast cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20776"},{"label":"UniProt Q9BUF5","url":"https://www.uniprot.org/uniprotkb/Q9BUF5/entry"},{"label":"NCBI Gene 84617","url":"https://www.ncbi.nlm.nih.gov/gene/84617"},{"label":"Ensembl ENSG00000176014","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000176014"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer","breast-cancer","non-hodgkin-lymphoma","prostate","hodgkin-lymphoma","cervical","multiple-myeloma","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBB6","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20776","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BUF5","url":"https://www.uniprot.org/uniprotkb/Q9BUF5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000176014","url":"https://platform.opentargets.org/target/ENSG00000176014/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.54, prostate cancer 0.59, ovarian cancer 0.57, cervical cancer 0.58, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TUBB6: RNA low tissue specificity; blood lineage group enriched (B-cells 59 nTPM, dendritic cells 157 nTPM); high antibody staining in 1 normal tissue; highest cancer staining testis cancer (3 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Breast cancer (all types), Lymphoma, Prostate cancer, Cervical cancer, Multiple myeloma, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 19 specific cancer types at or above 0.5 (non-small cell lung carcinoma, breast cancer, breast carcinoma, Hodgkins lymphoma, cervical cancer, plasma cell myeloma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TUBB6 tissue","url":"https://www.proteinatlas.org/ENSG00000176014-TUBB6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000176014 associations","url":"https://platform.opentargets.org/target/ENSG00000176014/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20776","ensembl":"ENSG00000176014","uniprot":"Q9BUF5","entrez":"84617","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Location: Cytoplasm, cytoskeleton (UniProt). Locus 18p11.21 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.61 with lung cancer (MONDO_0008903)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Cervical cancer: Open Targets association 0.58 with cervical cancer (MONDO_0002974)"],"targetClass":"other","prevalence":[]},{"id":"tubb8","kind":"target","name":"TUBB8","aka":["tubulin beta 8 class VIII","Tubulin beta-8 chain","bA631M21.2"],"tldr":"TUBB8 (Tubulin beta-8 chain) is a gene. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Non-Hodgkin lymphoma and 5 more.","summary":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.07, genetic association 0.00, somatic mutation 0.00, clinical 1.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20773","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20773"},{"label":"UniProt Q3ZCM7","url":"https://www.uniprot.org/uniprotkb/Q3ZCM7/entry"},{"label":"NCBI Gene 347688","url":"https://www.ncbi.nlm.nih.gov/gene/347688"},{"label":"Ensembl ENSG00000261456","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000261456"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","lung-cancer","non-hodgkin-lymphoma","prostate","hodgkin-lymphoma","cervical","multiple-myeloma","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 1.00. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TUBB8","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:20773","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20773","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q3ZCM7","url":"https://www.uniprot.org/uniprotkb/Q3ZCM7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000261456","url":"https://platform.opentargets.org/target/ENSG00000261456/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.61, gastric cancer 0.53, prostate cancer 0.59, ovarian cancer 0.56, cervical cancer 0.58, head and neck squamous cell carcinoma 0.53 (GraphQL API, CC0)"}],"distribution":"many-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA TUBB8: RNA tissue enhanced (ovary 2 nTPM, testis 2 nTPM); no normal tissue stained high; highest cancer staining testis cancer (3 of 11 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Lymphoma, Prostate cancer, Cervical cancer, Multiple myeloma, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 19 specific cancer types at or above 0.5 (non-small cell lung carcinoma, breast cancer, breast carcinoma, Hodgkins lymphoma, cervical cancer, plasma cell myeloma and more). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas TUBB8 tissue","url":"https://www.proteinatlas.org/ENSG00000261456-TUBB8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000261456 associations","url":"https://platform.opentargets.org/target/ENSG00000261456/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20773","ensembl":"ENSG00000261456","uniprot":"Q3ZCM7","entrez":"347688","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: van Geel et al, Am. J. Hum. Genet, 2002, \"A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11731935/","biology":"Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. TUBB8 has a key role in meiotic spindle assembly and oocyte maturation. Location: Cytoplasm, cytoskeleton; Cytoplasm, cytoskeleton, spindle (UniProt). Locus 10p15.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.60 with lung cancer (MONDO_0008903)","Non-Hodgkin lymphoma: Open Targets association 0.59 with non-Hodgkin lymphoma (MONDO_0018908)","Prostate cancer: Open Targets association 0.59 with prostate cancer (MONDO_0008315)","Hodgkin lymphoma: Open Targets association 0.59 with Hodgkins lymphoma (MONDO_0004952)","Cervical cancer: Open Targets association 0.58 with cervical cancer (MONDO_0002974)"],"targetClass":"other","prevalence":[]},{"id":"tubulin","kind":"target","name":"Tubulin (microtubules)","aka":[],"tldr":"The protein that builds the microtubule scaffolding a cell needs to pull its chromosomes apart. Taxanes freeze the scaffold and vinca alkaloids and eribulin stop it forming; either way the dividing cell stalls and dies.","summary":"Alpha and beta tubulin dimers assemble into microtubules, the dynamic fibres that form the mitotic spindle, move cargo and shape the cell. Taxanes such as paclitaxel and docetaxel bind beta tubulin and lock microtubules in place; vinca alkaloids such as vincristine and the halichondrin analogue eribulin bind the growing ends and stop assembly. Both leave the spindle unable to segregate chromosomes, triggering mitotic arrest. The same mechanism carries the MMAE payload of brentuximab vedotin and enfortumab vedotin and the maytansinoid payload of trastuzumab emtansine. Peripheral neuropathy, from microtubule damage in long axons, is the shared dose-limiting toxicity.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Tubulin","links":[{"label":"UniProt P07437: TUBB","url":"https://www.uniprot.org/uniprotkb/P07437/entry"}],"tags":[],"related":[],"cancers":["breast-hr-positive","nsclc","ovarian","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":["paclitaxel","docetaxel","vincristine","eribulin"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"TUBB","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists TUBB among essential proteins and finds the RNA at low tissue specificity; the 8 medicines aimed at it (Paclitaxel / nab-paclitaxel, Docetaxel, Vincristine and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA TUBB: RNA low tissue specificity; high antibody staining in 9 normal tissues; highest cancer staining testis cancer (3 of 11 high). Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Ovarian cancer, Leukaemia); approvals of single-target medicines aimed at it also list Prostate cancer, not counted; Open Targets associates it with 19 specific cancer types at or above 0.5 (breast cancer, non-small cell lung carcinoma, breast carcinoma, Hodgkins lymphoma, plasma cell myeloma, diffuse large B-cell lymphoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TUBB tissue","url":"https://www.proteinatlas.org/ENSG00000196230-TUBB/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000196230 associations","url":"https://platform.opentargets.org/target/ENSG00000196230/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:20778","ensembl":"ENSG00000196230","uniprot":"P07437","entrez":"203068","firstDescribed":1983,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lee M.G.-S. et al, Cell, 1983, \"Evolutionary history of a multigene family: an expressed human beta-tubulin gene and three processed pseudogenes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/6688039/","biology":"Heterodimeric building block of microtubules; drug binding at the taxane, vinca or maytansine site disrupts spindle dynamics.","whereFound":["Every dividing cell; the basis of taxane, vinca alkaloid, eribulin and tubulin-payload antibody-drug conjugate therapy"],"targetClass":"other","prevalence":[{"cancerId":"metastatic-cancer","pct":"all","measure":"Housekeeping enzyme present in every dividing cell (microtubule scaffold for cell division); not a selection marker, which is why these drugs are given by cancer type rather than by test."}]},{"id":"tyk2","kind":"target","name":"TYK2","aka":["tyrosine kinase 2","Non-receptor tyrosine-protein kinase TYK2","JTK1"],"tldr":"TYK2 (Non-receptor tyrosine-protein kinase TYK2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Myeloproliferative neoplasms, Malignant peripheral nerve sheath tumour and Polycythaemia vera.","summary":"Non-membrane spanning protein tyrosine kinase involved in numerous cytokines and interferons signalling, which regulates cell growth, development, cell migration, innate and adaptive immunity. Plays both structural and catalytic roles in numerous interleukins and interferons (IFN-alpha/beta) signalling. Associates with heterodimeric cytokine receptor complexes and activates STAT family members including STAT1, STAT3, STAT4 or STAT6.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.73 (direct and indirect evidence; datatypes clinical 0.96, affected pathway 0.83, literature 0.96, genetic association 0.00, animal model 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12440","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12440"},{"label":"UniProt P29597","url":"https://www.uniprot.org/uniprotkb/P29597/entry"},{"label":"NCBI Gene 7297","url":"https://www.ncbi.nlm.nih.gov/gene/7297"},{"label":"Ensembl ENSG00000105397","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105397"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["myeloproliferative-neoplasms","malignant-peripheral-nerve-sheath-tumour","polycythaemia-vera"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.96; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TYK2","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:12440","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12440","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P29597","url":"https://www.uniprot.org/uniprotkb/P29597/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TYK2","url":"https://civicdb.org/features/5970","note":"1 evidence items, 0 assertions, 2 variants; diseases: Malignant Peripheral Nerve Sheath Tumour (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000105397","url":"https://platform.opentargets.org/target/ENSG00000105397/associations","note":"association with cancer (MONDO_0004992) 0.73; per-cancer scores at or above 0.5: myeloproliferative neoplasm 0.60, acquired polycythemia vera 0.50 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TYK2: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (11 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 2 specific cancer types at or above 0.5 (myelofibrosis, acquired polycythemia vera). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TYK2 tissue","url":"https://www.proteinatlas.org/ENSG00000105397-TYK2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000105397 associations","url":"https://platform.opentargets.org/target/ENSG00000105397/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12440","ensembl":"ENSG00000105397","uniprot":"P29597","entrez":"7297","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Firmbach-Kraft et al, Oncogene, 1990, \"TYK2, prototype of a novel class of non-receptor tyrosine kinase genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2216457/","biology":"Non-membrane spanning protein tyrosine kinase involved in numerous cytokines and interferons signalling, which regulates cell growth, development, cell migration, innate and adaptive immunity. Plays both structural and catalytic roles in numerous interleukins and interferons (IFN-alpha/beta) signalling. Associates with heterodimeric cytokine receptor complexes and activates STAT family members including STAT1, STAT3, STAT4 or STAT6. The heterodimeric cytokine receptor complexes are composed of (1) a TYK2-associated receptor chain (IFNAR1, IL12RB1, IL10RB or IL13RA1), and (2) a second receptor chain associated either with JAK1 or JAK2. In response to cytokine-binding to receptors, phosphorylates and activates receptors (IFNAR1, IL12RB1, IL10RB or IL13RA1), creating docking sites for STAT members. In turn, recruited STATs are phosphorylated by TYK2 (or JAK1/JAK2 on the second receptor chain), form homo- and heterodimers, translocate to the nucleus, and regulate cytokine/growth factor responsive genes. Locus 19p13.2 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.60 with myeloproliferative neoplasm (MONDO_0020076)","Malignant peripheral nerve sheath tumour: CIViC evidence names this disease","Polycythaemia vera: Open Targets association 0.50 with acquired polycythemia vera (MONDO_0009891)"],"targetClass":"kinase","prevalence":[]},{"id":"tymp","kind":"target","name":"TYMP","aka":["thymidine phosphorylase","Thymidine phosphorylase","MNGIE","ECGF1"],"tldr":"TYMP (Thymidine phosphorylase) is an enzyme. The public catalogues list it as a drug target, and an approved or late-stage drug is recorded against it. Tied to Colorectal cancer.","summary":"May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro. Catalyses the reversible phosphorolysis of thymidine.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.46, clinical 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3148","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3148"},{"label":"UniProt P19971","url":"https://www.uniprot.org/uniprotkb/P19971/entry"},{"label":"NCBI Gene 1890","url":"https://www.ncbi.nlm.nih.gov/gene/1890"},{"label":"Ensembl ENSG00000025708","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000025708"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.93. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TYMP","role":["drug-target"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:3148","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3148","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P19971","url":"https://www.uniprot.org/uniprotkb/P19971/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000025708","url":"https://platform.opentargets.org/target/ENSG00000025708/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.58 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA TYMP: RNA low tissue specificity; blood lineage group enriched (dendritic cells 40 nTPM, granulocytes 116 nTPM, monocytes 137 nTPM); no normal tissue stained high; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 1 specific cancer type at or above 0.5 (colorectal cancer). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas TYMP tissue","url":"https://www.proteinatlas.org/ENSG00000025708-TYMP/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000025708 associations","url":"https://platform.opentargets.org/target/ENSG00000025708/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3148","ensembl":"ENSG00000025708","uniprot":"P19971","entrez":"1890","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ishikawa et al, Nature, 1989, \"Identification of angiogenic activity and the cloning and expression of platelet-derived endothelial cell growth factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2467210/","biology":"May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro. Catalyses the reversible phosphorolysis of thymidine. The produced molecules are then utilised as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Locus 22q13.33 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.58 with colorectal cancer (MONDO_0005575)"],"targetClass":"enzyme","prevalence":[]},{"id":"tyr","kind":"target","name":"TYR","aka":["tyrosinase","Tyrosinase","OCAIA","OCA1A","OCA1"],"tldr":"TYR (Tyrosinase) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer, Melanoma and Basal cell carcinoma.","summary":"This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyses the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyses the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.59, animal model 0.58, genetic association 0.74).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12442","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12442"},{"label":"UniProt P14679","url":"https://www.uniprot.org/uniprotkb/P14679/entry"},{"label":"NCBI Gene 7299","url":"https://www.ncbi.nlm.nih.gov/gene/7299"},{"label":"Ensembl ENSG00000077498","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077498"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","melanoma","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TYR","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12442","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12442","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P14679","url":"https://www.uniprot.org/uniprotkb/P14679/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000077498","url":"https://platform.opentargets.org/target/ENSG00000077498/associations","note":"association with cancer (MONDO_0004992) 0.59; per-cancer scores at or above 0.5: melanoma 0.59, skin cancer 0.56, basal cell carcinoma 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12442","ensembl":"ENSG00000077498","uniprot":"P14679","entrez":"7299","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kwon B.S. et al, Proc. Natl. Acad. Sci. U.S.A, 1987, \"Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2823263/","biology":"This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyses the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyses the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone. Location: Melanosome membrane; Melanosome (UniProt). Locus 11q14.3 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.59 with melanoma (MONDO_0005105)","Basal cell carcinoma: Open Targets association 0.54 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"enzyme","prevalence":[]},{"id":"tyrp1","kind":"target","name":"TYRP1","aka":["tyrosinase related protein 1","5,6-dihydroxyindole-2-carboxylic acid oxidase","GP75","b-PROTEIN","OCA3","CAS2"],"tldr":"TYRP1 (5,6-dihydroxyindole-2-carboxylic acid oxidase) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Skin cancer.","summary":"Plays a role in melanin biosynthesis. Catalyses the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions, but not in the presence of Zn(2+). May regulate or influence the type of melanin synthesised.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.56, animal model 0.63, genetic association 0.70).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12450","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12450"},{"label":"UniProt P17643","url":"https://www.uniprot.org/uniprotkb/P17643/entry"},{"label":"NCBI Gene 7306","url":"https://www.ncbi.nlm.nih.gov/gene/7306"},{"label":"Ensembl ENSG00000107165","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000107165"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TYRP1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12450","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12450","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P17643","url":"https://www.uniprot.org/uniprotkb/P17643/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000107165","url":"https://platform.opentargets.org/target/ENSG00000107165/associations","note":"association with cancer (MONDO_0004992) 0.56; per-cancer scores at or above 0.5: skin cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12450","ensembl":"ENSG00000107165","uniprot":"P17643","entrez":"7306","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cohen et al, Nucleic Acids Res, 1990, \"Nucleotide sequence of the cDNA encoding human tyrosinase-related protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2111010/","biology":"Plays a role in melanin biosynthesis. Catalyses the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acid in the presence of bound Cu(2+) ions, but not in the presence of Zn(2+). May regulate or influence the type of melanin synthesised. Also to a lower extent, capable of hydroxylating tyrosine and producing melanin. Location: Melanosome membrane (UniProt). Locus 9p23 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.53 with skin cancer (MONDO_0002898)"],"targetClass":"enzyme","prevalence":[]},{"id":"tyw2","kind":"target","name":"TYW2","aka":["tRNA wybutosine-synthesizing protein 2","tRNA wybutosine-synthesizing protein 2 homolog","FLJ20772","Trm12","TRMT12"],"tldr":"TYW2 (tRNA wybutosine-synthesising protein 2 homolog) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Salivary gland cancers.","summary":"S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyses the transfer of the alpha-amino-alpha-carboxypropyl (acp) group from S-adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Salivary Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26091","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26091"},{"label":"UniProt Q53H54","url":"https://www.uniprot.org/uniprotkb/Q53H54/entry"},{"label":"NCBI Gene 55039","url":"https://www.ncbi.nlm.nih.gov/gene/55039"},{"label":"Ensembl ENSG00000183665","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183665"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["salivary-gland"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TYW2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:26091","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26091","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q53H54","url":"https://www.uniprot.org/uniprotkb/Q53H54/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen TYW2","url":"https://www.intogen.org/search?gene=TYW2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:26091","ensembl":"ENSG00000183665","uniprot":"Q53H54","entrez":"55039","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyses the transfer of the alpha-amino-alpha-carboxypropyl (acp) group from S-adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86. Locus 8q24.13 (HGNC).","whereFound":["Salivary gland cancers: IntOGen driver in 1 cohort (SACA)"],"targetClass":"oncogene","prevalence":[]},{"id":"u2af1","kind":"target","name":"U2AF1","aka":["U2 small nuclear RNA auxiliary factor 1","Splicing factor U2AF 35 kDa subunit","U2AF35","RNU2AF1","U2AFBP"],"tldr":"U2AF1 (Splicing factor U2AF 35 kDa subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.","summary":"Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 4 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.93, genetic association 0.00, somatic mutation 0.97, animal model 0.53). IntOGen calls it a driver in 15 cohorts (15 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia, Cholangiocarcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer, Pancreatic Adenocarcinoma, Prostate Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12453","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12453"},{"label":"UniProt Q01081","url":"https://www.uniprot.org/uniprotkb/Q01081/entry"},{"label":"NCBI Gene 7307","url":"https://www.ncbi.nlm.nih.gov/gene/7307"},{"label":"Ensembl ENSG00000160201","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160201"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","lung-cancer","pancreatic","mds","prostate","gastric","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["rna-splicing"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 15 cohorts; CIViC holds 9 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myelofibrosis."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"U2AF1","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12453","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12453","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01081","url":"https://www.uniprot.org/uniprotkb/Q01081/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene U2AF1","url":"https://civicdb.org/features/48","note":"9 evidence items, 0 assertions, 4 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000160201","url":"https://platform.opentargets.org/target/ENSG00000160201/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, melanoma 0.52, acute myeloid leukaemia 0.64, skin cancer 0.52, myeloproliferative neoplasm 0.70, lung cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen U2AF1","url":"https://www.intogen.org/search?gene=U2AF1","note":"driver in 15 cohorts (Act 15, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA U2AF1: RNA low tissue specificity; high antibody staining in 42 normal tissues; highest cancer staining testis cancer (12 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lung cancer (all types), Pancreatic ductal adenocarcinoma, Prostate cancer, Gastric & gastro-oesophageal junction cancer, Endometrial cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (acute myeloid leukemia, lung adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q01081","url":"https://www.uniprot.org/uniprotkb/Q01081/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene U2AF1","url":"https://civicdb.org/features/48","note":"9 evidence items, 0 assertions, 4 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)"},{"label":"IntOGen U2AF1","url":"https://www.intogen.org/search?gene=U2AF1","note":"driver in 15 cohorts (Act 15, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas U2AF1 tissue","url":"https://www.proteinatlas.org/ENSG00000160201-U2AF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000160201 associations","url":"https://platform.opentargets.org/target/ENSG00000160201/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12453","ensembl":"ENSG00000160201","uniprot":"Q01081","entrez":"7307","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1388271/","biology":"Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron. Location: Nucleus; Nucleus speckle (UniProt). Locus 21q22.3 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.70 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.70 with leukaemia (MONDO_0005059)","Lung cancer: Open Targets association 0.64 with lung cancer (MONDO_0008903)","Pancreatic ductal adenocarcinoma: IntOGen driver in 4 cohorts (PAAD)","Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease","Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"u2af2","kind":"target","name":"U2AF2","aka":["U2 small nuclear RNA auxiliary factor 2","Splicing factor U2AF 65 kDa subunit","U2AF65"],"tldr":"U2AF2 (Splicing factor U2AF 65 kDa subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"Plays a role in pre-mRNA splicing and 3'-end processing. By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23156","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23156"},{"label":"UniProt P26368","url":"https://www.uniprot.org/uniprotkb/P26368/entry"},{"label":"NCBI Gene 11338","url":"https://www.ncbi.nlm.nih.gov/gene/11338"},{"label":"Ensembl ENSG00000063244","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000063244"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"U2AF2","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:23156","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23156","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P26368","url":"https://www.uniprot.org/uniprotkb/P26368/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen U2AF2","url":"https://www.intogen.org/search?gene=U2AF2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:23156","ensembl":"ENSG00000063244","uniprot":"P26368","entrez":"11338","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zamore P.D. et al, Nature, 1992, \"Cloning and domain structure of the mammalian splicing factor U2AF\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1538748/","biology":"Plays a role in pre-mRNA splicing and 3'-end processing. By recruiting PRPF19 and the PRP19C/Prp19 complex/NTC/Nineteen complex to the RNA polymerase II C-terminal domain (CTD), and thereby pre-mRNA, may couple transcription to splicing. Induces cardiac troponin-T (TNNT2) pre-mRNA exon inclusion in muscle. Regulates the TNNT2 exon 5 inclusion through competition with MBNL1. Binds preferentially to a single-stranded structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Required for the export of mRNA out of the nucleus, even if the mRNA is encoded by an intron-less gene. Location: Nucleus (UniProt). Locus 19q13.42 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"uba52","kind":"target","name":"UBA52","aka":["ubiquitin A-52 residue ribosomal protein fusion product 1","Ubiquitin-ribosomal protein eL40 fusion protein","RPL40","CEP52","HUBCEP52","MGC57125","MGC126879","MGC126881","L40"],"tldr":"UBA52 (Ubiquitin-ribosomal protein eL40 fusion protein) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signalling processes leading to activation of the transcription factor NF-kappa-B.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.92, affected pathway 0.83, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12458","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12458"},{"label":"UniProt P62987","url":"https://www.uniprot.org/uniprotkb/P62987/entry"},{"label":"NCBI Gene 7311","url":"https://www.ncbi.nlm.nih.gov/gene/7311"},{"label":"Ensembl ENSG00000221983","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000221983"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UBA52","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12458","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12458","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62987","url":"https://www.uniprot.org/uniprotkb/P62987/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000221983","url":"https://platform.opentargets.org/target/ENSG00000221983/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12458","ensembl":"ENSG00000221983","uniprot":"P62987","entrez":"7311","firstDescribed":1975,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schlesinger D.H. et al, Nature, 1975, \"Molecular conservation of 74 amino acid sequence of ubiquitin between cattle and man\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1128706/","biology":"Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signalling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signalling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signalling. Location: Cytoplasm; Nucleus (UniProt). Locus 19p13.1-p12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ubb","kind":"target","name":"UBB","aka":["ubiquitin B","Polyubiquitin-B","MGC8385","FLJ25987"],"tldr":"UBB (Polyubiquitin-B) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signalling processes leading to activation of the transcription factor NF-kappa-B.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.93, affected pathway 0.83, animal model 0.34, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12463","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12463"},{"label":"UniProt P0CG47","url":"https://www.uniprot.org/uniprotkb/P0CG47/entry"},{"label":"NCBI Gene 7314","url":"https://www.ncbi.nlm.nih.gov/gene/7314"},{"label":"Ensembl ENSG00000170315","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000170315"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UBB","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12463","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12463","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0CG47","url":"https://www.uniprot.org/uniprotkb/P0CG47/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000170315","url":"https://platform.opentargets.org/target/ENSG00000170315/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12463","ensembl":"ENSG00000170315","uniprot":"P0CG47","entrez":"7314","firstDescribed":1975,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schlesinger D.H. et al, Nature, 1975, \"Molecular conservation of 74 amino acid sequence of ubiquitin between cattle and man\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1128706/","biology":"Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signalling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signalling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signalling. Location: Cytoplasm; Nucleus; Mitochondrion outer membrane (UniProt). Locus 17p11.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ubc","kind":"target","name":"UBC","aka":["ubiquitin C","Polyubiquitin-C"],"tldr":"UBC (Polyubiquitin-C) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signalling processes leading to activation of the transcription factor NF-kappa-B.\n\nOpen Targets scores its association with cancer at 0.54 (direct and indirect evidence; datatypes literature 0.94, affected pathway 0.83, animal model 0.50, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12468","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12468"},{"label":"UniProt P0CG48","url":"https://www.uniprot.org/uniprotkb/P0CG48/entry"},{"label":"NCBI Gene 7316","url":"https://www.ncbi.nlm.nih.gov/gene/7316"},{"label":"Ensembl ENSG00000150991","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000150991"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UBC","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12468","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12468","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0CG48","url":"https://www.uniprot.org/uniprotkb/P0CG48/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000150991","url":"https://platform.opentargets.org/target/ENSG00000150991/associations","note":"association with cancer (MONDO_0004992) 0.54;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12468","ensembl":"ENSG00000150991","uniprot":"P0CG48","entrez":"7316","firstDescribed":1975,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Schlesinger D.H. et al, Nature, 1975, \"Molecular conservation of 74 amino acid sequence of ubiquitin between cattle and man\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1128706/","biology":"Exists either covalently attached to another protein, or free (unanchored). When covalently bound, it is conjugated to target proteins via an isopeptide bond either as a monomer (monoubiquitin), a polymer linked via different Lys residues of the ubiquitin (polyubiquitin chains) or a linear polymer linked via the initiator Met of the ubiquitin (linear polyubiquitin chains). Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell-cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signalling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signalling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signalling. Location: Cytoplasm; Nucleus; Mitochondrion outer membrane (UniProt). Locus 12q24.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ube2a","kind":"target","name":"UBE2A","aka":["ubiquitin conjugating enzyme E2 A","Ubiquitin-conjugating enzyme E2 A","UBC2","HHR6A","RAD6A","HR6A"],"tldr":"UBE2A (Ubiquitin-conjugating enzyme E2 A) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase. In vitro catalyses 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Together with the E3 enzyme BRE1 (RNF20 and/or RNF40), plays a role in transcription regulation by catalysing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12472","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12472"},{"label":"UniProt P49459","url":"https://www.uniprot.org/uniprotkb/P49459/entry"},{"label":"NCBI Gene 7319","url":"https://www.ncbi.nlm.nih.gov/gene/7319"},{"label":"Ensembl ENSG00000077721","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000077721"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UBE2A","role":["tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12472","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12472","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49459","url":"https://www.uniprot.org/uniprotkb/P49459/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene UBE2A","url":"https://civicdb.org/features/5988","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen UBE2A","url":"https://www.intogen.org/search?gene=UBE2A","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA UBE2A: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P49459","url":"https://www.uniprot.org/uniprotkb/P49459/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene UBE2A","url":"https://civicdb.org/features/5988","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen UBE2A","url":"https://www.intogen.org/search?gene=UBE2A","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas UBE2A tissue","url":"https://www.proteinatlas.org/ENSG00000077721-UBE2A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000077721 associations","url":"https://platform.opentargets.org/target/ENSG00000077721/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12472","ensembl":"ENSG00000077721","uniprot":"P49459","entrez":"7319","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Koken M.H.M. et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"Structural and functional conservation of two human homologs of the yeast DNA repair gene RAD6\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1717990/","biology":"E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase. In vitro catalyses 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Together with the E3 enzyme BRE1 (RNF20 and/or RNF40), plays a role in transcription regulation by catalysing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. Involved in mitophagy by acting as a E2 ubiquitin-conjugating enzyme for PRKN. In association with the E3 enzyme UBR4, is involved in N-end rule-dependent protein degradation. Location: Late endosome; Lysosome (UniProt). Locus Xq24 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (DLBCLNOS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"ubr5","kind":"target","name":"UBR5","aka":["ubiquitin protein ligase E3 component n-recognin 5","E3 ubiquitin-protein ligase UBR5","DD5","KIAA0896","EDD1"],"tldr":"UBR5 (E3 ubiquitin-protein ligase UBR5) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Gastric & gastro-oesophageal junction cancer, Breast cancer, Renal cell carcinoma and 5 more.","summary":"E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm and nucleus. Mainly acts as a ubiquitin chain elongator that extends pre-ubiquitinated substrates. Component of the N-end rule pathway: ubiquitinates proteins bearing specific N-terminal residues that are destabilising according to the N-end rule, leading to their degradation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.27, somatic mutation 0.88). IntOGen calls it a driver in 7 cohorts (2 activating, 5 loss-of-function), covering Acute Myeloid Leukaemia, Invasive Breast Carcinoma, Chromophobe Renal Cell Carcinoma, Cutaneous Squamous Cell Carcinoma, Melanoma, Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16806"},{"label":"UniProt O95071","url":"https://www.uniprot.org/uniprotkb/O95071/entry"},{"label":"NCBI Gene 51366","url":"https://www.ncbi.nlm.nih.gov/gene/51366"},{"label":"Ensembl ENSG00000104517","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000104517"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["gastric","breast-cancer","rcc","skin-cancer","colorectal","non-hodgkin-lymphoma","ovarian","mantle-cell-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UBR5","role":["oncogene-driver","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16806","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16806","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O95071","url":"https://www.uniprot.org/uniprotkb/O95071/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene UBR5","url":"https://civicdb.org/features/11900","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000104517","url":"https://platform.opentargets.org/target/ENSG00000104517/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: colorectal cancer 0.55, gastric cancer 0.57, ovarian cancer 0.51, melanoma 0.59, non-Hodgkin lymphoma 0.52, skin cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen UBR5","url":"https://www.intogen.org/search?gene=UBR5","note":"driver in 7 cohorts (Act 2, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA UBR5: RNA low tissue specificity; no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Gastric & gastro-oesophageal junction cancer, Breast cancer (all types), Renal cell carcinoma, Skin cancer (all types), Colorectal cancer, Lymphoma, Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O95071","url":"https://www.uniprot.org/uniprotkb/O95071/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene UBR5","url":"https://civicdb.org/features/11900","note":"1 evidence items, 0 assertions, 1 variants; diseases: Mantle Cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen UBR5","url":"https://www.intogen.org/search?gene=UBR5","note":"driver in 7 cohorts (Act 2, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas UBR5 tissue","url":"https://www.proteinatlas.org/ENSG00000104517-UBR5/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000104517 associations","url":"https://platform.opentargets.org/target/ENSG00000104517/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16806","ensembl":"ENSG00000104517","uniprot":"O95071","entrez":"51366","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Callaghan M.J. et al, Oncogene, 1998, \"Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10030672/","biology":"E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm and nucleus. Mainly acts as a ubiquitin chain elongator that extends pre-ubiquitinated substrates. Component of the N-end rule pathway: ubiquitinates proteins bearing specific N-terminal residues that are destabilising according to the N-end rule, leading to their degradation. Recognises type-1 N-degrons, containing positively charged amino acids (Arg, Lys and His). Together with UBR4, part of a cytoplasm protein quality control pathway that prevents protein aggregation by catalysing assembly of heterotypic 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on aggregated proteins, leading to substrate recognition by the segregase p97/VCP and degradation by the proteasome: UBR5 is probably branching multiple 'Lys-48'-linked chains of substrates initially modified with mixed conjugates by UBR4. Together with ITCH, catalyses 'Lys-48'-/'Lys-63'-branched ubiquitination of TXNIP, leading to its degradation: UBR5 mediates branching of 'Lys-48'-linked chains of substrates initially modified with 'Lys-63'-linked conjugates by ITCH. Location: Nucleus; Cytoplasm (UniProt). Locus 8q22.3 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: Open Targets association 0.57 with gastric cancer (MONDO_0001056); IntOGen driver in 2 cohorts (STAD)","Breast cancer: Open Targets association 0.57 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Renal cell carcinoma: IntOGen driver in 1 cohort (CHRCC)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)","Non-Hodgkin lymphoma: Open Targets association 0.52 with non-Hodgkin lymphoma (MONDO_0018908)"],"targetClass":"enzyme","prevalence":[]},{"id":"ubtf","kind":"target","name":"UBTF","aka":["upstream binding transcription factor","Nucleolar transcription factor 1","NOR-90","UBF1","UBF2"],"tldr":"UBTF (Nucleolar transcription factor 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Acute myeloid leukaemia.","summary":"Recognises the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I (Pol I) through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element and can activate Pol I promoter escape.\n\nCIViC holds 1 clinical evidence item and 2 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12511","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12511"},{"label":"UniProt P17480","url":"https://www.uniprot.org/uniprotkb/P17480/entry"},{"label":"NCBI Gene 7343","url":"https://www.ncbi.nlm.nih.gov/gene/7343"},{"label":"Ensembl ENSG00000108312","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108312"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UBTF","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12511","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12511","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P17480","url":"https://www.uniprot.org/uniprotkb/P17480/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene UBTF","url":"https://civicdb.org/features/6009","note":"1 evidence items, 2 assertions, 1 variants; diseases: Acute Myeloid Leukaemia (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists UBTF among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA UBTF: RNA low tissue specificity; high antibody staining in 40 normal tissues; highest cancer staining colorectal cancer (10 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Leukaemia); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas UBTF tissue","url":"https://www.proteinatlas.org/ENSG00000108312-UBTF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000108312 associations","url":"https://platform.opentargets.org/target/ENSG00000108312/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12511","ensembl":"ENSG00000108312","uniprot":"P17480","entrez":"7343","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jantzen H.M. et al, Nature, 1990, \"Nucleolar transcription factor hUBF contains a DNA-binding motif with homology to HMG proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2330041/","biology":"Recognises the ribosomal RNA gene promoter and activates transcription mediated by RNA polymerase I (Pol I) through cooperative interactions with the transcription factor SL1/TIF-IB complex. It binds specifically to the upstream control element and can activate Pol I promoter escape. Location: Nucleus, nucleolus (UniProt). Locus 17q21.31 (HGNC).","whereFound":["Acute myeloid leukaemia: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"ubxn11","kind":"target","name":"UBXN11","aka":["UBX domain protein 11","UBX domain-containing protein 11","UBXD5"],"tldr":"UBXN11 (UBX domain-containing protein 11) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Glioma & glioblastoma.","summary":"May be involved in the reorganisation of actin cytoskeleton mediated by RND1, RND2 and RND3. Promotes RHOA activation mediated by GNA12 and GNA13.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Glioblastoma Multiforme.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30600","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30600"},{"label":"UniProt Q5T124","url":"https://www.uniprot.org/uniprotkb/Q5T124/entry"},{"label":"NCBI Gene 91544","url":"https://www.ncbi.nlm.nih.gov/gene/91544"},{"label":"Ensembl ENSG00000158062","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000158062"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UBXN11","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30600","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30600","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5T124","url":"https://www.uniprot.org/uniprotkb/Q5T124/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen UBXN11","url":"https://www.intogen.org/search?gene=UBXN11","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30600","ensembl":"ENSG00000158062","uniprot":"Q5T124","entrez":"91544","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Cai et al, 2002.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q5T124/entry","biology":"May be involved in the reorganisation of actin cytoskeleton mediated by RND1, RND2 and RND3. Promotes RHOA activation mediated by GNA12 and GNA13. Location: Cytoplasm, cytoskeleton (UniProt). Locus 1p36.11 (HGNC).","whereFound":["Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"oncogene","prevalence":[]},{"id":"ugt1a","kind":"target","name":"UGT1A","aka":["UDP glucuronosyltransferase family 1 member A complex locus","UGT1A@"],"tldr":"UGT1A (UDP glucuronosyltransferase family 1 member A complex locus) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"UniProt has no function text for this gene; HGNC names it \"UDP glucuronosyltransferase family 1 member A complex locus\".\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Ganetespib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12529","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12529"},{"label":"NCBI Gene 7361","url":"https://www.ncbi.nlm.nih.gov/gene/7361"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UGT1A","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12529","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12529","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"CIViC gene UGT1A","url":"https://civicdb.org/features/6023","note":"1 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: the Human Protein Atlas has no row for UGT1A and no corpus medicine is aimed at it. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"HGNC HGNC:12529","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12529","note":"the target record's own source"},{"label":"CIViC gene UGT1A","url":"https://civicdb.org/features/6023","note":"the target record's own source"}],"hgnc":"HGNC:12529","entrez":"7361","biology":"UniProt has no function text for this gene; HGNC names it \"UDP glucuronosyltransferase family 1 member A complex locus\". Locus 2q37 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"ugt1a1","kind":"target","name":"UGT1A1","aka":["UDP glucuronosyltransferase family 1 member A1","UDP-glucuronosyltransferase 1A1","UGT1A","UGT1","GNT1"],"tldr":"UGT1A1 (UDP-glucuronosyltransferase 1A1) is an enzyme. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it.","summary":"UDP-glucuronosyltransferase (UGT) that catalyses phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile. Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds. Catalyses the glucuronidation of endogenous oestrogen hormones such as estradiol, estrone and estriol.\n\nCIViC holds 2 clinical evidence items and 0 assertions across 2 variants, naming Belinostat. In OnCo, 1 product record names it (Irinotecan (and liposomal irinotecan)).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12530","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12530"},{"label":"UniProt P22309","url":"https://www.uniprot.org/uniprotkb/P22309/entry"},{"label":"NCBI Gene 54658","url":"https://www.ncbi.nlm.nih.gov/gene/54658"},{"label":"Ensembl ENSG00000241635","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000241635"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":["irinotecan"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":["nct00541125","nct00628810","nct03329183"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 2 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"UGT1A1","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:12530","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12530","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P22309","url":"https://www.uniprot.org/uniprotkb/P22309/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene UGT1A1","url":"https://civicdb.org/features/12422","note":"2 evidence items, 0 assertions, 2 variants; diseases: Cancer (GraphQL API, CC0)"}],"specificity":"tumour-associated","distribution":"not-established","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enriched in cancer (Liver Hepatocellular Carcinoma (TCGA)) and group enriched in normal intestine, liver, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA UGT1A1: RNA group enriched (intestine 189 nTPM, liver 345 nTPM); blood lineage lineage enriched (granulocytes 1 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas UGT1A1 tissue","url":"https://www.proteinatlas.org/ENSG00000241635-UGT1A1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas UGT1A1 pathology","url":"https://www.proteinatlas.org/ENSG00000241635-UGT1A1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000241635 associations","url":"https://platform.opentargets.org/target/ENSG00000241635/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12530","ensembl":"ENSG00000241635","uniprot":"P22309","entrez":"54658","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ritter J.K. et al, J. Biol. Chem, 1991, \"Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1898728/","biology":"UDP-glucuronosyltransferase (UGT) that catalyses phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile. Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds. Catalyses the glucuronidation of endogenous oestrogen hormones such as estradiol, estrone and estriol. Involved in the glucuronidation of bilirubin, a degradation product occurring in the normal catabolic pathway that breaks down heme in vertebrates. Involved in the glucuronidation of arachidonic acid (AA) and AA-derived eicosanoids including 15-HETE, 20-HETE, PGB1 and F2-isoprostane (8-iso-PGF2alpha). Involved in the glucuronidation of the phytochemical ferulic acid at the phenolic or the carboxylic acid group. Location: Endoplasmic reticulum membrane; Cytoplasm, perinuclear region (UniProt). Locus 2q37.1 (HGNC).","whereFound":[],"targetClass":"enzyme","prevalence":[]},{"id":"usp28","kind":"target","name":"USP28","aka":["ubiquitin specific peptidase 28","Ubiquitin carboxyl-terminal hydrolase 28","KIAA1515"],"tldr":"USP28 (Ubiquitin carboxyl-terminal hydrolase 28) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C).\n\nOpen Targets scores its association with cancer at 0.57 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.69, somatic mutation 0.23).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12625","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12625"},{"label":"UniProt Q96RU2","url":"https://www.uniprot.org/uniprotkb/Q96RU2/entry"},{"label":"NCBI Gene 57646","url":"https://www.ncbi.nlm.nih.gov/gene/57646"},{"label":"Ensembl ENSG00000048028","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000048028"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"USP28","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12625","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12625","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96RU2","url":"https://www.uniprot.org/uniprotkb/Q96RU2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000048028","url":"https://platform.opentargets.org/target/ENSG00000048028/associations","note":"association with cancer (MONDO_0004992) 0.57; per-cancer scores at or above 0.5: prostate cancer 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12625","ensembl":"ENSG00000048028","uniprot":"Q96RU2","entrez":"57646","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10819331/","biology":"Deubiquitinase involved in DNA damage response checkpoint and MYC proto-oncogene stability. Involved in DNA damage induced apoptosis by specifically deubiquitinating proteins of the DNA damage pathway such as CLSPN. Also involved in G2 DNA damage checkpoint, by deubiquitinating CLSPN, and preventing its degradation by the anaphase promoting complex/cyclosome (APC/C). In contrast, it does not deubiquitinate PLK1. Specifically deubiquitinates MYC in the nucleoplasm, leading to prevent MYC degradation by the proteasome: acts by specifically interacting with isoform 1 of FBXW7 (FBW7alpha) in the nucleoplasm and counteracting ubiquitination of MYC by the SCF(FBW7) complex. In contrast, it does not interact with isoform 4 of FBXW7 (FBW7gamma) in the nucleolus, allowing MYC degradation and explaining the selective MYC degradation in the nucleolus. Location: Nucleus, nucleoplasm (UniProt). Locus 11q23.2 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.56 with prostate cancer (MONDO_0008315)"],"targetClass":"enzyme","prevalence":[]},{"id":"usp6","kind":"target","name":"USP6","aka":["ubiquitin specific peptidase 6","Ubiquitin carboxyl-terminal hydrolase 6","Tre-2","TRE17","Tre2","HRP1","TRESMCR"],"tldr":"USP6 (Ubiquitin carboxyl-terminal hydrolase 6) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Breast cancer, Hepatocellular carcinoma and 5 more.","summary":"Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyses its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity.\n\nOpen Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.78, animal model 0.53, genetic association 0.00, somatic mutation 0.96). IntOGen calls it a driver in 8 cohorts (5 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia, Basal Cell Carcinoma, Invasive Breast Carcinoma, Colorectal Adenocarcinoma, Hepatocellular Carcinoma, Lung Squamous Cell Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12629","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12629"},{"label":"UniProt P35125","url":"https://www.uniprot.org/uniprotkb/P35125/entry"},{"label":"NCBI Gene 9098","url":"https://www.ncbi.nlm.nih.gov/gene/9098"},{"label":"Ensembl ENSG00000129204","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129204"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["colorectal","breast-cancer","hcc","prostate","skin-cancer","lung-cancer","sarcoma","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"USP6","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12629","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12629","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35125","url":"https://www.uniprot.org/uniprotkb/P35125/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000129204","url":"https://platform.opentargets.org/target/ENSG00000129204/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: colorectal cancer 0.59, melanoma 0.56, sarcoma 0.53, skin cancer 0.57, breast cancer 0.51, lung cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen USP6","url":"https://www.intogen.org/search?gene=USP6","note":"driver in 8 cohorts (Act 5, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12629","ensembl":"ENSG00000129204","uniprot":"P35125","entrez":"9098","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nakamura et al, Oncogene, 1992, \"A novel transcriptional unit of the tre oncogene widely expressed in human cancer cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1565468/","biology":"Deubiquitinase with an ATP-independent isopeptidase activity, cleaving at the C-terminus of the ubiquitin moiety. Catalyses its own deubiquitination. In vitro, isoform 2, but not isoform 3, shows deubiquitinating activity. Promotes plasma membrane localisation of ARF6 and selectively regulates ARF6-dependent endocytic protein trafficking. Is able to initiate tumorigenesis by inducing the production of matrix metalloproteinases following NF-kappa-B activation. May act as a GTPase-activating protein for RAB3A. Location: Cell membrane; Cytoplasm; Endosome (UniProt). Locus 17p13.2 (HGNC).","whereFound":["Colorectal cancer: Open Targets association 0.59 with colorectal cancer (MONDO_0005575); IntOGen driver in 1 cohort (COADREAD)","Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254); IntOGen driver in 1 cohort (BRCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)"],"targetClass":"oncogene","prevalence":[]},{"id":"usp7","kind":"target","name":"USP7","aka":["ubiquitin specific peptidase 7","Ubiquitin C-terminal hydrolase 7","HAUSP"],"tldr":"USP7 (Ubiquitin C-terminal hydrolase 7) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Multiple myeloma and Burkitt lymphoma.","summary":"Hydrolase that deubiquitinates target proteins such as ARMC5, FOXO4, DEPTOR, KAT5, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation. Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Burkitt Lymphoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12630","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12630"},{"label":"UniProt Q93009","url":"https://www.uniprot.org/uniprotkb/Q93009/entry"},{"label":"NCBI Gene 7874","url":"https://www.ncbi.nlm.nih.gov/gene/7874"},{"label":"Ensembl ENSG00000187555","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000187555"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["multiple-myeloma","burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["ubiquitin-proteasome-system"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"USP7","role":["tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12630","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12630","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q93009","url":"https://www.uniprot.org/uniprotkb/Q93009/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene USP7","url":"https://civicdb.org/features/6340","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen USP7","url":"https://www.intogen.org/search?gene=USP7","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA USP7: RNA low tissue specificity; no normal tissue stained high; highest cancer staining testis cancer (4 of 10 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Multiple myeloma, Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q93009","url":"https://www.uniprot.org/uniprotkb/Q93009/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene USP7","url":"https://civicdb.org/features/6340","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen USP7","url":"https://www.intogen.org/search?gene=USP7","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas USP7 tissue","url":"https://www.proteinatlas.org/ENSG00000187555-USP7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000187555 associations","url":"https://platform.opentargets.org/target/ENSG00000187555/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12630","ensembl":"ENSG00000187555","uniprot":"Q93009","entrez":"7874","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Everett R.D. et al, EMBO J, 1997, \"A novel ubiquitin-specific protease is dynamically associated with the PML nuclear domain and binds to a herpesvirus regulatory protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9034339/","biology":"Hydrolase that deubiquitinates target proteins such as ARMC5, FOXO4, DEPTOR, KAT5, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation. Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis. Deubiquitinates p53/TP53 and MDM2 and strongly stabilises p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis. Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on p53/TP53 and inhibits FOXO4-induced transcriptional activity. In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML. Location: Nucleus; Cytoplasm; Nucleus, PML body; Chromosome (UniProt). Locus 16p13.2 (HGNC).","whereFound":["Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Burkitt lymphoma: CIViC evidence names this disease; IntOGen driver in 1 cohort (BL)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"usp8","kind":"target","name":"USP8","aka":["ubiquitin specific peptidase 8","Ubiquitin carboxyl-terminal hydrolase 8","HumORF8","KIAA0055","SPG59"],"tldr":"USP8 (Ubiquitin carboxyl-terminal hydrolase 8) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Multiple myeloma, Breast cancer and 1 more.","summary":"Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.00, somatic mutation 0.85). IntOGen calls it a driver in 3 cohorts (3 activating, 0 loss-of-function), covering Hepatocellular Carcinoma, Lung Squamous Cell Carcinoma, Plasma Cell Myeloma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12631","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12631"},{"label":"UniProt P40818","url":"https://www.uniprot.org/uniprotkb/P40818/entry"},{"label":"NCBI Gene 9101","url":"https://www.ncbi.nlm.nih.gov/gene/9101"},{"label":"Ensembl ENSG00000138592","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138592"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","multiple-myeloma","breast-cancer","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"USP8","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12631","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12631","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P40818","url":"https://www.uniprot.org/uniprotkb/P40818/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000138592","url":"https://platform.opentargets.org/target/ENSG00000138592/associations","note":"association with cancer (MONDO_0004992) 0.66; per-cancer scores at or above 0.5: breast cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen USP8","url":"https://www.intogen.org/search?gene=USP8","note":"driver in 3 cohorts (Act 3, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12631","ensembl":"ENSG00000138592","uniprot":"P40818","entrez":"9101","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nomura et al, DNA Res, 1994, \"Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7584044/","biology":"Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Location: Cytoplasm; Nucleus; Endosome membrane; Cell membrane (UniProt). Locus 15q21.2 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"oncogene","prevalence":[]},{"id":"usp9x","kind":"target","name":"USP9X","aka":["ubiquitin specific peptidase 9 X-linked","Ubiquitin carboxyl-terminal hydrolase 9X","DFFRX","FAF-X","MRX99"],"tldr":"USP9X (Ubiquitin carboxyl-terminal hydrolase 9X) is an enzyme. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Thyroid cancer, Hepatocellular carcinoma, Sarcomas and 5 more.","summary":"Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Specifically hydrolyses 'Lys-11'-, followed by 'Lys-63'-, 'Lys-48'- and 'Lys-6'-linked polyubiquitins chains.\n\nIntOGen calls it a driver in 7 cohorts (1 activating, 6 loss-of-function), covering Cholangiocarcinoma, Hepatocellular Carcinoma, Leiomyosarcoma, Nasopharyngeal Carcinoma, Prostate Adenocarcinoma, Well-Differentiated Thyroid Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12632","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12632"},{"label":"UniProt Q93008","url":"https://www.uniprot.org/uniprotkb/Q93008/entry"},{"label":"NCBI Gene 8239","url":"https://www.ncbi.nlm.nih.gov/gene/8239"},{"label":"Ensembl ENSG00000124486","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000124486"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["thyroid","hcc","sarcoma","nasopharyngeal","prostate","papillary-thyroid-cancer","cholangiocarcinoma","leiomyosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 6 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"USP9X","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12632","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12632","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q93008","url":"https://www.uniprot.org/uniprotkb/Q93008/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen USP9X","url":"https://www.intogen.org/search?gene=USP9X","note":"driver in 7 cohorts (Act 1, LoF 6); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12632","ensembl":"ENSG00000124486","uniprot":"Q93008","entrez":"8239","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jones M.H. et al, Hum. Mol. Genet, 1996, \"The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8922996/","biology":"Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Specifically hydrolyses 'Lys-11'-, followed by 'Lys-63'-, 'Lys-48'- and 'Lys-6'-linked polyubiquitins chains. Essential component of TGF-beta/BMP signalling cascade. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Deubiquitinates alkylation repair enzyme ALKBH3. Location: Cytoplasm, cytosol; Cell projection, growth cone; Cytoplasm, cytoskeleton, cilium axoneme (UniProt). Locus Xp11.4 (HGNC).","whereFound":["Thyroid cancer: IntOGen driver in 2 cohorts (WDTC)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Sarcomas: IntOGen driver in 1 cohort (LMS)","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Papillary thyroid cancer: IntOGen driver in 2 cohorts (WDTC)"],"targetClass":"enzyme","prevalence":[]},{"id":"vav1","kind":"target","name":"VAV1","aka":["vav guanine nucleotide exchange factor 1","Proto-oncogene vav"],"tldr":"VAV1 (Proto-oncogene vav) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Lung Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12657","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12657"},{"label":"UniProt P15498","url":"https://www.uniprot.org/uniprotkb/P15498/entry"},{"label":"NCBI Gene 7409","url":"https://www.ncbi.nlm.nih.gov/gene/7409"},{"label":"Ensembl ENSG00000141968","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141968"},{"label":"Kataoka et al., Nat Genet 2015: integrated molecular analysis of 426 adult T-cell leukaemia/lymphoma cases","url":"https://doi.org/10.1038/ng.3415"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc","non-hodgkin-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["oncogenic-viruses","inflammation-nfkb"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Lymphoma, HTLV-1, Tax and HBZ: Human T-lymphotropic virus 1 integrates into the genome of a CD4 T cell and expresses Tax, which switches on NF-kB and interferes with the DNA-damage response and the spindle checkpoint, and HBZ, encoded on the opposite strand, which is retained when Tax expression is switched off under immune pressure. The host genome then acquires the rest of the lesions, and they are not random: the alterations found across 426 cases overlap significantly with the proteins Tax itself binds, and are concentrated in T-cell receptor and NF-kB signalling, T-cell trafficking and immune surveillance, with activating mutations in PLCG1, PRKCB, CARD11, VAV1, IRF4, FYN, CCR4 and CCR7, CTLA4-CD28 and ICOS-CD28 fusions, and intragenic deletions of IKZF2, CARD11 and TP73 (Kataoka 2015). Frequency: Across 426 adult T-cell leukaemia/lymphoma cases analysed by whole-genome, exome, transcriptome and targeted sequencing with copy-number and methylation arrays (Kataoka 2015). Most people infected with HTLV-1 never develop the disease, and the latency between infection, usually in infancy through breastfeeding, and the leukaemia is measured in decades. What it changes about treatment: The CCR4 finding is the practical one: CCR4 is both frequently expressed and frequently mutated, and mogamulizumab is used in this disease. The virus itself is not a drug target, and antiretroviral treatment does not cure the leukaemia."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"VAV1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12657","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12657","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P15498","url":"https://www.uniprot.org/uniprotkb/P15498/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen VAV1","url":"https://www.intogen.org/search?gene=VAV1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12657","ensembl":"ENSG00000141968","uniprot":"P15498","entrez":"7409","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Katzav et al, EMBO J, 1989, \"vav, a novel human oncogene derived from a locus ubiquitously expressed in hematopoietic cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2477241/","biology":"Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation. Locus 19p13.3 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"vcl","kind":"target","name":"VCL","aka":["vinculin","Vinculin"],"tldr":"VCL (Vinculin) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.96, affected pathway 0.97, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12665","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12665"},{"label":"UniProt P18206","url":"https://www.uniprot.org/uniprotkb/P18206/entry"},{"label":"NCBI Gene 7414","url":"https://www.ncbi.nlm.nih.gov/gene/7414"},{"label":"Ensembl ENSG00000035403","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000035403"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"VCL","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12665","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12665","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P18206","url":"https://www.uniprot.org/uniprotkb/P18206/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000035403","url":"https://platform.opentargets.org/target/ENSG00000035403/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12665","ensembl":"ENSG00000035403","uniprot":"P18206","entrez":"7414","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Weller P.A. et al, Proc. Natl. Acad. Sci. U.S.A, 1990, \"Complete sequence of human vinculin and assignment of the gene to chromosome 10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2116004/","biology":"Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion. Location: Cell membrane; Cell junction, adherens junction; Cell junction, focal adhesion; Cytoplasm, cytoskeleton (UniProt). Locus 10q22.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"vdr","kind":"target","name":"VDR","aka":["vitamin D receptor","Vitamin D3 receptor","NR1I1","PPP1R163"],"tldr":"VDR (Vitamin D3 receptor) is a protein that switches other genes on and off. The public catalogues list it as a drug target, and clinical evidence ties its variants to diagnosis, prognosis or drug response.","summary":"Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells. Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR. The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 1.00, animal model 0.55, genetic association 0.46, clinical 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12679","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12679"},{"label":"UniProt P11473","url":"https://www.uniprot.org/uniprotkb/P11473/entry"},{"label":"NCBI Gene 7421","url":"https://www.ncbi.nlm.nih.gov/gene/7421"},{"label":"Ensembl ENSG00000111424","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000111424"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.67. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"VDR","role":["drug-target"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12679","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12679","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P11473","url":"https://www.uniprot.org/uniprotkb/P11473/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000111424","url":"https://platform.opentargets.org/target/ENSG00000111424/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"distribution":"not-established","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role drug-target; HPA finds the RNA tissue enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA VDR: RNA tissue enriched (parathyroid gland 222 nTPM); blood lineage group enriched (dendritic cells 5 nTPM, granulocytes 7 nTPM, monocytes 7 nTPM); no normal tissue stained high. Distribution: no corpus cancer carries a prevalence row, threshold or catalogue link for it; Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas VDR tissue","url":"https://www.proteinatlas.org/ENSG00000111424-VDR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000111424 associations","url":"https://platform.opentargets.org/target/ENSG00000111424/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12679","ensembl":"ENSG00000111424","uniprot":"P11473","entrez":"7421","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Baker A.R. et al, Proc. Natl. Acad. Sci. U.S.A, 1988, \"Cloning and expression of full-length cDNA encoding human vitamin D receptor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2835767/","biology":"Nuclear receptor for calcitriol, the active form of vitamin D3 which mediates the action of this vitamin on cells. Enters the nucleus upon vitamin D3 binding where it forms heterodimers with the retinoid X receptor/RXR. The VDR-RXR heterodimers bind to specific response elements on DNA and activate the transcription of vitamin D3-responsive target genes. Plays a central role in calcium homeostasis. Also functions as a receptor for the secondary bile acid lithocholic acid (LCA) and its metabolites. Location: Nucleus; Cytoplasm (UniProt). Locus 12q13.11 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"vegf","kind":"target","name":"VEGF / VEGFR","aka":[],"tldr":"The signal tumours use to grow their own blood supply. Blocking it starves tumours and, surprisingly, helps immunotherapy work.","summary":"Bevacizumab (2004) was the first anti-angiogenic. VEGFR TKIs (cabozantinib, lenvatinib, axitinib) are standard in RCC, HCC, and thyroid cancer, usually with PD-1 blockade. PD-1×VEGF bispecific ivonescimab beat pembrolizumab on PFS in NSCLC (HARMONi-2) and is the most-watched bispecific in solid tumours.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Vascular_endothelial_growth_factor","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Vascular_endothelial_growth_factor"}],"tags":["angiogenesis"],"related":[],"cancers":["rcc","hcc","colorectal","nsclc","ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":["ziv-aflibercept","pm8002","zanzalintinib","tovecimig","chiauranib","ai-081"],"companies":["compass-therapeutics"],"institutions":[],"pathways":["vegf-angiogenesis","bladder-cancer-signalling","hepatocellular-carcinoma-signalling","renal-cell-carcinoma-signalling"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"VEGFA, KDR, FLT1, FLT4, PGF","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 29 medicines aimed at it (Ziv-aflibercept, PM8002, Zanzalintinib and more) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA VEGFA: RNA low tissue specificity; high antibody staining in 21 normal tissues; highest cancer staining colorectal cancer (11 of 12 high). HPA KDR: RNA low tissue specificity; high antibody staining in 3 normal tissues; highest cancer staining skin cancer (3 of 12 high). HPA FLT1: RNA tissue enriched (placenta 394 nTPM); high antibody staining in 2 normal tissues. HPA FLT4: RNA low tissue specificity; blood lineage lineage enriched (T-cells 4 nTPM); high antibody staining in 10 normal tissues; highest cancer staining pancreatic cancer (3 of 12 high). HPA PGF: RNA tissue enhanced (blood vessel 67 nTPM); no normal tissue stained high. HPA FLT1: RNA tissue enriched (placenta 394 nTPM); high antibody staining in 2 normal tissues. HPA FLT4: RNA low tissue specificity; blood lineage lineage enriched (T-cells 4 nTPM); high antibody staining in 10 normal tissues; highest cancer staining pancreatic cancer (3 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Hepatocellular carcinoma, Colorectal cancer, Lung cancer (all types), Ovarian cancer); approvals of single-target medicines aimed at it also list Salivary gland cancers, Cervical cancer, Brain and spinal cord tumours (all types), Sarcomas (soft tissue, bone, GIST) and more, not counted; Open Targets associates it with 22 specific cancer types at or above 0.5 (non-small cell lung carcinoma, colorectal cancer, breast cancer, renal cell carcinoma, cervical cancer, glioblastoma and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas VEGFA tissue","url":"https://www.proteinatlas.org/ENSG00000112715-VEGFA/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas KDR tissue","url":"https://www.proteinatlas.org/ENSG00000128052-KDR/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas FLT1 tissue","url":"https://www.proteinatlas.org/ENSG00000102755-FLT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas FLT4 tissue","url":"https://www.proteinatlas.org/ENSG00000037280-FLT4/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas PGF tissue","url":"https://www.proteinatlas.org/ENSG00000119630-PGF/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000112715 associations","url":"https://platform.opentargets.org/target/ENSG00000112715/associations","note":"cancer associations at or above 0.5 (CC0)"},{"label":"Open Targets ENSG00000128052 associations","url":"https://platform.opentargets.org/target/ENSG00000128052/associations","note":"cancer associations at or above 0.5 (CC0)"}],"biology":"VEGF is an endothelial growth factor that is also immunosuppressive in the tumour microenvironment.","whereFound":["Tumour vasculature across solid tumours"],"targetClass":"other","prevalence":[{"cancerId":"rcc","pct":">90","measure":"Clear-cell VHL loss drives VEGF (pathway prevalence)","source":"https://www.cbioportal.org/study/summary?id=kirc_tcga_pan_can_atlas_2018"},{"cancerId":"hcc","pct":"n/a","measure":"Angiogenic dependency; no selection biomarker","source":"https://en.wikipedia.org/wiki/Vascular_endothelial_growth_factor"},{"cancerId":"colorectal","pct":"n/a","measure":"No selection biomarker for bevacizumab","source":"https://en.wikipedia.org/wiki/Vascular_endothelial_growth_factor"}]},{"id":"vegfc","kind":"target","name":"VEGFC","aka":["vascular endothelial growth factor C","Vascular endothelial growth factor C","VEGF-C"],"tldr":"VEGFC (Vascular endothelial growth factor C) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Hepatocellular carcinoma.","summary":"Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates KDR/VEGFR2 and FLT4/VEGFR3 receptors.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Sunitinib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12682","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12682"},{"label":"UniProt P49767","url":"https://www.uniprot.org/uniprotkb/P49767/entry"},{"label":"NCBI Gene 7424","url":"https://www.ncbi.nlm.nih.gov/gene/7424"},{"label":"Ensembl ENSG00000150630","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000150630"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["hcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"VEGFC","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12682","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12682","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P49767","url":"https://www.uniprot.org/uniprotkb/P49767/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene VEGFC","url":"https://civicdb.org/features/6073","note":"1 evidence items, 0 assertions, 1 variants; diseases: Hepatocellular Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA VEGFC: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Hepatocellular carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas VEGFC tissue","url":"https://www.proteinatlas.org/ENSG00000150630-VEGFC/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000150630 associations","url":"https://platform.opentargets.org/target/ENSG00000150630/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12682","ensembl":"ENSG00000150630","uniprot":"P49767","entrez":"7424","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Joukov et al, EMBO J, 1996, \"A novel vascular endothelial growth factor, VEGF-C, is a ligand for the Flt4 (VEGFR-3) and KDR (VEGFR-2) receptor tyrosine kinases\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8617204/","biology":"Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates KDR/VEGFR2 and FLT4/VEGFR3 receptors. Location: Secreted (UniProt). Locus 4q34.3 (HGNC).","whereFound":["Hepatocellular carcinoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"vhl","kind":"target","name":"VHL","aka":["von Hippel-Lindau tumor suppressor","von Hippel-Lindau disease tumor suppressor","VHL1"],"tldr":"VHL (von Hippel-Lindau disease tumour suppressor) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Renal cell carcinoma, Neuroendocrine tumours, Breast cancer and 5 more.","summary":"Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases.\n\nCIViC holds 2913 clinical evidence items and 6 assertions across 885 variants, naming Pazopanib, Anti-VEGF Monoclonal Antibody, Temsirolimus and Everolimus and others. Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes genetic literature 0.83, affected pathway 0.87, literature 1.00, genetic association 0.79, somatic mutation 0.87, animal model 0.81). IntOGen calls it a driver in 6 cohorts (1 activating, 5 loss-of-function), covering Renal Clear Cell Carcinoma, Paraganglioma, Renal Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12687","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12687"},{"label":"UniProt P40337","url":"https://www.uniprot.org/uniprotkb/P40337/entry"},{"label":"NCBI Gene 7428","url":"https://www.ncbi.nlm.nih.gov/gene/7428"},{"label":"Ensembl ENSG00000134086","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134086"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["rcc","neuroendocrine","breast-cancer","pancreatic","pheochromocytoma-paraganglioma","clear-cell-rcc","polycythaemia-vera","chromophobe-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hif-vhl","renal-cell-carcinoma-signalling","ubiquitin-proteasome-system"],"terms":[],"trials":["nct04924075"],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 7 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 5 cohorts; CIViC holds 2913 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Von Hippel-Lindau Disease; Renal Carcinoma; Chuvash Polycythemia; Adrenal Gland Pheochromocytoma; Polycythemia; Splenomegaly."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"VHL","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12687","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12687","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P40337","url":"https://www.uniprot.org/uniprotkb/P40337/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene VHL","url":"https://civicdb.org/features/58","note":"2913 evidence items, 6 assertions, 885 variants; diseases: Von Hippel-Lindau Disease, Clear Cell Renal Cell Carcinoma, Renal Cell Carcinoma, Renal Carcinoma, Chuvash Polycythemia and 7 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000134086","url":"https://platform.opentargets.org/target/ENSG00000134086/associations","note":"association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: renal cell carcinoma 0.81, neuroendocrine neoplasm 0.77 (GraphQL API, CC0)"},{"label":"IntOGen VHL","url":"https://www.intogen.org/search?gene=VHL","note":"driver in 6 cohorts (Act 1, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA VHL: RNA low tissue specificity; high antibody staining in 25 normal tissues; highest cancer staining head and neck cancer (4 of 4 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma, Neuroendocrine tumours, Breast cancer (all types), Pancreatic ductal adenocarcinoma, Pheochromocytoma and paraganglioma (PPGL), Myeloid neoplasms); Open Targets associates it with 6 specific cancer types at or above 0.5 (pheochromocytoma, hereditary pheochromocytoma-paraganglioma, clear cell renal carcinoma, nonpapillary renal cell carcinoma, hereditary neoplastic syndrome, renal cell carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P40337","url":"https://www.uniprot.org/uniprotkb/P40337/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene VHL","url":"https://civicdb.org/features/58","note":"2913 evidence items, 6 assertions, 885 variants; diseases: Von Hippel-Lindau Disease, Clear Cell Renal Cell Carcinoma, Renal Cell Carcinoma, Renal Carcinoma, Chuvash Polycythemia and 7 more (GraphQL API, CC0)"},{"label":"IntOGen VHL","url":"https://www.intogen.org/search?gene=VHL","note":"driver in 6 cohorts (Act 1, LoF 5); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas VHL tissue","url":"https://www.proteinatlas.org/ENSG00000134086-VHL/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000134086 associations","url":"https://platform.opentargets.org/target/ENSG00000134086/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12687","ensembl":"ENSG00000134086","uniprot":"P40337","entrez":"7428","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Latif et al, Science, 1993, \"Identification of the von Hippel-Lindau disease tumor suppressor gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8493574/","biology":"Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2. Acts as a negative regulator of mTORC1 by promoting ubiquitination and degradation of RPTOR. Location: Cytoplasm; Cell membrane; Endoplasmic reticulum; Nucleus (UniProt). Locus 3p25.3 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.81 with renal cell carcinoma (MONDO_0005086); CIViC evidence names this disease","Neuroendocrine tumours: Open Targets association 0.77 with neuroendocrine neoplasm (MONDO_0019496)","Breast cancer: CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Pheochromocytoma and paraganglioma: IntOGen driver in 1 cohort (PGNG)","Clear cell renal cell carcinoma: CIViC evidence names this disease; IntOGen driver in 4 cohorts (CCRCC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"vista","kind":"target","name":"VISTA","aka":[],"tldr":"An immune checkpoint on myeloid cells that works at the acidic pH inside tumours and is a suspected escape route after PD-1 therapy; antibodies are in early trials.","summary":"VISTA (VSIR, PD-1H) is expressed mainly on myeloid cells and naive T cells, binds PSGL-1 selectively at acidic pH (tumour microenvironment) and VSIG3, and suppresses T-cell activation. It is upregulated after anti-CTLA-4 in prostate cancer and after chemotherapy in some tumours, suggesting adaptive resistance. Anti-VISTA antibodies (CI-8993, SNS-101 which binds only at low pH, HMBD-002, KVA12123) are in phase 1/2; the first agent (JNJ-61610588) was halted for cytokine release. No efficacy has yet been shown.","asOf":"2026-09-08","links":[{"label":"pH-selective VISTA (Nature 2019)","url":"https://doi.org/10.1038/s41586-019-1674-5"}],"tags":["gap-fill"],"related":["pd1","ctla4","tim3","lag3"],"cancers":["prostate","pancreatic","mesothelioma","nsclc"],"sections":[],"technologies":["checkpoint-inhibitor"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["pd1-checkpoint"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-johnston-nature"],"journals":[],"dependsOn":[],"notes":["In prostate, pancreatic and lung cancer VISTA is carried mainly by myeloid infiltrates rather than tumour cells, so a tumour-cell prevalence is not well characterised."],"symbol":"VSIR","role":["immune-checkpoint"],"sources":[],"specificitySources":[],"hgnc":"HGNC:30085","ensembl":"ENSG00000107738","uniprot":"Q9H7M9","entrez":"64115","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sachs U.J. et al, 2003, \"Gi24, a novel platelet receptor\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9H7M9/entry","biology":"B7-family Ig-superfamily member acting as both ligand and receptor; histidine-rich extracellular domain makes PSGL-1 binding pH-dependent; expressed at high density on neutrophils, monocytes and MDSCs.","whereFound":["Myeloid infiltrates in prostate, pancreatic, lung, colorectal and ovarian cancers","Mesothelioma (tumour-cell expression)","AML blasts"],"targetClass":"checkpoint","prevalence":[{"cancerId":"mesothelioma","pct":85,"measure":"IHC, any VISTA on tumour cells (TMA, n=319; 88% epithelioid, 90% biphasic, 42% sarcomatoid)","source":"https://doi.org/10.1038/s41379-019-0364-z","note":"Expression on inflammatory cells in 94%; VISTA-high associated with better survival"}]},{"id":"vps37a","kind":"target","name":"VPS37A","aka":["VPS37A subunit of ESCRT-I","Vacuolar protein sorting-associated protein 37A","FLJ32642","HCRP1","SPG53","PQBP2"],"tldr":"VPS37A (Vacuolar protein sorting-associated protein 37A) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Ovarian cancer.","summary":"Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cetuximab.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24928","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24928"},{"label":"UniProt Q8NEZ2","url":"https://www.uniprot.org/uniprotkb/Q8NEZ2/entry"},{"label":"NCBI Gene 137492","url":"https://www.ncbi.nlm.nih.gov/gene/137492"},{"label":"Ensembl ENSG00000155975","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000155975"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["ovarian"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"VPS37A","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:24928","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24928","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NEZ2","url":"https://www.uniprot.org/uniprotkb/Q8NEZ2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene VPS37A","url":"https://civicdb.org/features/18353","note":"1 evidence items, 0 assertions, 1 variants; diseases: Ovarian Cancer (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists VPS37A among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA VPS37A: RNA low tissue specificity; high antibody staining in 1 normal tissue. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Ovarian cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas VPS37A tissue","url":"https://www.proteinatlas.org/ENSG00000155975-VPS37A/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000155975 associations","url":"https://platform.opentargets.org/target/ENSG00000155975/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:24928","ensembl":"ENSG00000155975","uniprot":"Q8NEZ2","entrez":"137492","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Xu et al, Biochem. Biophys. Res. Commun, 2003, \"HCRP1, a novel gene that is downregulated in hepatocellular carcinoma, encodes a growth-inhibitory protein\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14623289/","biology":"Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation. Location: Late endosome membrane; Nucleus (UniProt). Locus 8p22 (HGNC).","whereFound":["Ovarian cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"vps53","kind":"target","name":"VPS53","aka":["VPS53 subunit of GARP complex","Vacuolar protein sorting-associated protein 53 homolog","FLJ10979","HCCS1"],"tldr":"VPS53 (Vacuolar protein sorting-associated protein 53 homolog) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Prostate cancer.","summary":"Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Acts as a component of the EARP complex that is involved in endocytic recycling.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.88, genetic association 0.69).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25608","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25608"},{"label":"UniProt Q5VIR6","url":"https://www.uniprot.org/uniprotkb/Q5VIR6/entry"},{"label":"NCBI Gene 55275","url":"https://www.ncbi.nlm.nih.gov/gene/55275"},{"label":"Ensembl ENSG00000141252","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141252"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"VPS53","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:25608","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25608","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q5VIR6","url":"https://www.uniprot.org/uniprotkb/Q5VIR6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141252","url":"https://platform.opentargets.org/target/ENSG00000141252/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: prostate cancer 0.53 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:25608","ensembl":"ENSG00000141252","uniprot":"Q5VIR6","entrez":"55275","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhao et al, Cancer Lett, 2003, \"The minimum LOH region defined on chromosome 17p13.3 in human hepatocellular carcinoma with gene content analysis\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12565177/","biology":"Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Acts as a component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalised transferrin receptor (TFRC) to the plasma membrane. Location: Golgi apparatus, trans-Golgi network membrane; Endosome membrane; Recycling endosome (UniProt). Locus 17p13.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.53 with prostate cancer (MONDO_0008315)"],"targetClass":"other","prevalence":[]},{"id":"vti1a","kind":"target","name":"VTI1A","aka":["vesicle transport through interaction with t-SNAREs 1A","Vesicle transport through interaction with t-SNAREs homolog 1A","MVti1","Vti1-rp2"],"tldr":"VTI1A (Vesicle transport through interaction with t-SNAREs homolog 1A) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.37, genetic association 0.60, somatic mutation 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17792","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17792"},{"label":"UniProt Q96AJ9","url":"https://www.uniprot.org/uniprotkb/Q96AJ9/entry"},{"label":"NCBI Gene 143187","url":"https://www.ncbi.nlm.nih.gov/gene/143187"},{"label":"Ensembl ENSG00000151532","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000151532"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"VTI1A","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:17792","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17792","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96AJ9","url":"https://www.uniprot.org/uniprotkb/Q96AJ9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000151532","url":"https://platform.opentargets.org/target/ENSG00000151532/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:17792","ensembl":"ENSG00000151532","uniprot":"Q96AJ9","entrez":"143187","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network. Along with VAMP7, involved in an non-conventional RAB1-dependent traffic route to the cell surface used by KCNIP1 and KCND2. May be involved in increased cytokine secretion associated with cellular senescence. Location: Cytoplasmic vesicle; Golgi apparatus membrane (UniProt). Locus 10q25.2 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"vwf","kind":"target","name":"VWF","aka":["von Willebrand factor","F8VWF"],"tldr":"VWF (von Willebrand factor) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Important in the maintenance of haemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilising its heterodimeric structure and protecting it from premature clearance from plasma.\n\nOpen Targets scores its association with cancer at 0.66 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.97, animal model 0.53, genetic association 0.31).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12726","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12726"},{"label":"UniProt P04275","url":"https://www.uniprot.org/uniprotkb/P04275/entry"},{"label":"NCBI Gene 7450","url":"https://www.ncbi.nlm.nih.gov/gene/7450"},{"label":"Ensembl ENSG00000110799","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000110799"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"VWF","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12726","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12726","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P04275","url":"https://www.uniprot.org/uniprotkb/P04275/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000110799","url":"https://platform.opentargets.org/target/ENSG00000110799/associations","note":"association with cancer (MONDO_0004992) 0.66;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12726","ensembl":"ENSG00000110799","uniprot":"P04275","entrez":"7450","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sadler J.E. et al, Proc. Natl. Acad. Sci. U.S.A, 1985, \"Cloning and characterization of two cDNAs coding for human von Willebrand factor\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2864688/","biology":"Important in the maintenance of haemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilising its heterodimeric structure and protecting it from premature clearance from plasma. Location: Secreted; Secreted, extracellular space, extracellular matrix (UniProt). Locus 12p13.31 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"was","kind":"target","name":"WAS","aka":["WASP actin nucleation promoting factor","Actin nucleation-promoting factor WAS","WASPA","IMD2"],"tldr":"WAS (Actin nucleation-promoting factor WAS) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Skin cancer, Medulloblastoma and Melanoma.","summary":"Effector protein for Rho-type GTPases that regulates actin filament reorganisation via its interaction with the Arp2/3 complex. Important for efficient actin polymerisation. Possible regulator of lymphocyte and platelet function.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.79, animal model 0.63, genetic association 0.00, somatic mutation 0.96). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Medulloblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12731","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12731"},{"label":"UniProt P42768","url":"https://www.uniprot.org/uniprotkb/P42768/entry"},{"label":"NCBI Gene 7454","url":"https://www.ncbi.nlm.nih.gov/gene/7454"},{"label":"Ensembl ENSG00000015285","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000015285"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["skin-cancer","medulloblastoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WAS","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12731","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12731","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P42768","url":"https://www.uniprot.org/uniprotkb/P42768/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000015285","url":"https://platform.opentargets.org/target/ENSG00000015285/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: melanoma 0.52, skin cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen WAS","url":"https://www.intogen.org/search?gene=WAS","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12731","ensembl":"ENSG00000015285","uniprot":"P42768","entrez":"7454","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Derry J.M.J. et al, Cell, 1994, \"Isolation of a novel gene mutated in Wiskott-Aldrich syndrome\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8069912/","biology":"Effector protein for Rho-type GTPases that regulates actin filament reorganisation via its interaction with the Arp2/3 complex. Important for efficient actin polymerisation. Possible regulator of lymphocyte and platelet function. Mediates actin filament reorganisation and the formation of actin pedestals upon infection by pathogenic bacteria. In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerisation in the nucleus, thereby regulating gene transcription and repair of damaged DNA. Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerisation, leading to drive motility of double-strand breaks (DSBs). Location: Cytoplasm, cytoskeleton; Nucleus (UniProt). Locus Xp11.23 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Medulloblastoma: IntOGen driver in 1 cohort (MBL)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"wdcp","kind":"target","name":"WDCP","aka":["WD repeat and coiled coil containing","WD repeat and coiled-coil-containing protein","FLJ21945","C2orf44"],"tldr":"WDCP (WD repeat and coiled-coil-containing protein) is a gene. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"UniProt has no function text for Q9H6R7; HGNC names it \"WD repeat and coiled coil containing\".\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.08, affected pathway 0.76, genetic association 0.00, somatic mutation 0.65).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26157","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26157"},{"label":"UniProt Q9H6R7","url":"https://www.uniprot.org/uniprotkb/Q9H6R7/entry"},{"label":"NCBI Gene 80304","url":"https://www.ncbi.nlm.nih.gov/gene/80304"},{"label":"Ensembl ENSG00000163026","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163026"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WDCP","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:26157","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26157","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H6R7","url":"https://www.uniprot.org/uniprotkb/Q9H6R7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000163026","url":"https://platform.opentargets.org/target/ENSG00000163026/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:26157","ensembl":"ENSG00000163026","uniprot":"Q9H6R7","entrez":"80304","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Wan et al, Proc. Natl. Acad. Sci. U.S.A, 2004, \"Large-scale cDNA transfection screening for genes related to cancer development and progression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15498874/","biology":"UniProt has no function text for Q9H6R7; HGNC names it \"WD repeat and coiled coil containing\". Locus 2p23.3 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"wdr12","kind":"target","name":"WDR12","aka":["WD repeat domain 12","Ribosome biogenesis protein WDR12","YTM1","FLJ10881"],"tldr":"WDR12 (Ribosome biogenesis protein WDR12) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Glioma & glioblastoma.","summary":"Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14098"},{"label":"UniProt Q9GZL7","url":"https://www.uniprot.org/uniprotkb/Q9GZL7/entry"},{"label":"NCBI Gene 55759","url":"https://www.ncbi.nlm.nih.gov/gene/55759"},{"label":"Ensembl ENSG00000138442","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138442"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["glioblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WDR12","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14098","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14098","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9GZL7","url":"https://www.uniprot.org/uniprotkb/Q9GZL7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene WDR12","url":"https://civicdb.org/features/13185","note":"1 evidence items, 0 assertions, 1 variants; diseases: Glioblastoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists WDR12 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA WDR12: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas WDR12 tissue","url":"https://www.proteinatlas.org/ENSG00000138442-WDR12/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000138442 associations","url":"https://platform.opentargets.org/target/ENSG00000138442/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14098","ensembl":"ENSG00000138442","uniprot":"Q9GZL7","entrez":"55759","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Matsumoto, 2000, \"Human homolog of Saccharomyces cervisiae YTM1\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q9GZL7/entry","biology":"Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. Location: Nucleus, nucleolus; Nucleus, nucleoplasm (UniProt). Locus 2q33.2 (HGNC).","whereFound":["Glioma & glioblastoma: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"wee1","kind":"target","name":"WEE1","aka":[],"tldr":"A checkpoint kinase that gives cells time to fix DNA before dividing. Removing it forces damaged cancer cells into a fatal division.","summary":"WEE1 is a checkpoint kinase that inhibits CDK1 to enforce the G2/M checkpoint, giving cells time to repair DNA before dividing. TP53-mutant cells have lost their G1 checkpoint and depend on WEE1 to avoid entering mitosis with damaged DNA, so inhibiting it forces them into a lethal division. Adavosertib showed activity in uterine serous carcinoma and other TP53-mutant tumours, but its development was paused; azenosertib (ZN-c3) and Debio 0123 continue in ovarian and other cancers. The strongest rationale is in CCNE1-amplified disease, seen in 15 to 20 percent of ovarian cancers, where TP53 mutation is also near-universal. Haematological and gastrointestinal toxicity have limited dosing, and no WEE1 inhibitor is yet approved. In plain terms, removing this checkpoint pushes damaged cancer cells into a division they cannot survive.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Wee1-like_protein_kinase","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Wee1-like_protein_kinase"}],"tags":["ddr"],"related":[],"cancers":["ovarian","endometrial","tnbc"],"sections":[],"technologies":[],"targets":[],"drugs":["azenosertib"],"companies":["acrivon-therapeutics","zentalis-pharmaceuticals"],"institutions":[],"pathways":["ddr","p53-cell-cycle"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"WEE1","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA lists WEE1 among essential proteins and finds the RNA at low tissue specificity; the 1 medicine aimed at it (Azenosertib) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA WEE1: RNA low tissue specificity; high antibody staining in 4 normal tissues; highest cancer staining testis cancer (5 of 12 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Ovarian cancer, Endometrial cancer, Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas WEE1 tissue","url":"https://www.proteinatlas.org/ENSG00000166483-WEE1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000166483 associations","url":"https://platform.opentargets.org/target/ENSG00000166483/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12761","ensembl":"ENSG00000166483","uniprot":"P30291","entrez":"7465","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Igarashi et al, Nature, 1991, \"Wee1(+)-like gene in human cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1840647/","biology":"Inhibits CDK1 to enforce the G2/M checkpoint; TP53-mutant cells depend on it.","whereFound":["TP53-mutant, CCNE1-amplified tumours"],"targetClass":"kinase","prevalence":[{"cancerId":"ovarian","pct":"15-20","measure":"CCNE1 amplification (dependency context)","source":"https://www.cbioportal.org/study/summary?id=ov_tcga_pan_can_atlas_2018","note":"TP53 mutation ~95%"},{"cancerId":"endometrial","pct":"n/a","measure":"Uterine serous carcinoma context","source":"https://en.wikipedia.org/wiki/Wee1-like_protein_kinase"}]},{"id":"wif1","kind":"target","name":"WIF1","aka":["Wnt inhibitory factor 1"],"tldr":"WIF1 (Wnt inhibitory factor 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer and Oral cavity cancer.","summary":"Binds to WNT proteins and inhibits their activities. May be involved in mesoderm segmentation.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.19, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18081","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18081"},{"label":"UniProt Q9Y5W5","url":"https://www.uniprot.org/uniprotkb/Q9Y5W5/entry"},{"label":"NCBI Gene 11197","url":"https://www.ncbi.nlm.nih.gov/gene/11197"},{"label":"Ensembl ENSG00000156076","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000156076"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","oral-cavity-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WIF1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:18081","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18081","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y5W5","url":"https://www.uniprot.org/uniprotkb/Q9Y5W5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000156076","url":"https://platform.opentargets.org/target/ENSG00000156076/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: breast cancer 0.55, oral cavity cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:18081","ensembl":"ENSG00000156076","uniprot":"Q9Y5W5","entrez":"11197","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hsieh J.-C. et al, Nature, 1999, \"A new secreted protein that binds to Wnt proteins and inhibits their activities\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10201374/","biology":"Binds to WNT proteins and inhibits their activities. May be involved in mesoderm segmentation. Location: Secreted (UniProt). Locus 12q14.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Oral cavity cancer: Open Targets association 0.51 with oral cavity cancer (MONDO_0005515)"],"targetClass":"other","prevalence":[]},{"id":"wnk1","kind":"target","name":"WNK1","aka":["WNK lysine deficient protein kinase 1","Serine/threonine-protein kinase WNK1","HSAN2","PPP1R167","PRKWNK1","HSN2"],"tldr":"WNK1 (Serine/threonine-protein kinase WNK1) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Burkitt lymphoma.","summary":"Serine/threonine-protein kinase component of the WNK1-SPAK/OSR1 kinase cascade, which acts as a key regulator of blood pressure and regulatory volume increase by promoting ion influx. WNK1 mediates regulatory volume increase in response to hyperosmotic stress by acting as a molecular crowding sensor, which senses cell shrinkage and mediates formation of a membraneless compartment by undergoing liquid-liquid phase separation. The membraneless compartment concentrates WNK1 with its substrates, OXSR1/OSR1 and STK39/SPAK, promoting WNK1-dependent phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14540","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14540"},{"label":"UniProt Q9H4A3","url":"https://www.uniprot.org/uniprotkb/Q9H4A3/entry"},{"label":"NCBI Gene 65125","url":"https://www.ncbi.nlm.nih.gov/gene/65125"},{"label":"Ensembl ENSG00000060237","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000060237"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["burkitt-lymphoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WNK1","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:14540","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14540","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H4A3","url":"https://www.uniprot.org/uniprotkb/Q9H4A3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene WNK1","url":"https://civicdb.org/features/14591","note":"1 evidence items, 0 assertions, 1 variants; diseases: Burkitt Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA lists WNK1 among essential proteins and finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA WNK1: RNA low tissue specificity; high antibody staining in 11 normal tissues; highest cancer staining skin cancer (6 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas WNK1 tissue","url":"https://www.proteinatlas.org/ENSG00000060237-WNK1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000060237 associations","url":"https://platform.opentargets.org/target/ENSG00000060237/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:14540","ensembl":"ENSG00000060237","uniprot":"Q9H4A3","entrez":"65125","firstDescribed":1989,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hart G.W. et al, Ciba Found. Symp, 1989, \"Nucleoplasmic and cytoplasmic glycoproteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2507249/","biology":"Serine/threonine-protein kinase component of the WNK1-SPAK/OSR1 kinase cascade, which acts as a key regulator of blood pressure and regulatory volume increase by promoting ion influx. WNK1 mediates regulatory volume increase in response to hyperosmotic stress by acting as a molecular crowding sensor, which senses cell shrinkage and mediates formation of a membraneless compartment by undergoing liquid-liquid phase separation. The membraneless compartment concentrates WNK1 with its substrates, OXSR1/OSR1 and STK39/SPAK, promoting WNK1-dependent phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK. Following activation, OXSR1/OSR1 and STK39/SPAK catalyse phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A5/KCC2 and SLC12A6/KCC3, regulating their activity. Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A5/KCC2 and SLC12A6/KCC3 inhibit their activity, blocking ion efflux. Also acts as a regulator of angiogenesis in endothelial cells via activation of OXSR1/OSR1 and STK39/SPAK: activation of OXSR1/OSR1 regulates chemotaxis and invasion, while STK39/SPAK regulates endothelial cell proliferation. Location: Cytoplasm; Nucleus; Cytoplasm, cytoskeleton, spindle (UniProt). Locus 12p13.33 (HGNC).","whereFound":["Burkitt lymphoma: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"wnk2","kind":"target","name":"WNK2","aka":["WNK lysine deficient protein kinase 2","Serine/threonine-protein kinase WNK2","NY-CO-43","KIAA1760","SDCCAG43","PRKWNK2"],"tldr":"WNK2 (Serine/threonine-protein kinase WNK2) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Sarcomas, Hepatocellular carcinoma, Mesothelioma and 2 more.","summary":"Serine/threonine-protein kinase component of the WNK2-SPAK/OSR1 kinase cascade, which plays an important role in the regulation of electrolyte homeostasis, cell signalling, survival, and proliferation. The WNK2-SPAK/OSR1 kinase cascade is composed of WNK2, which mediates phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK. Following activation, OXSR1/OSR1 and STK39/SPAK catalyse phosphorylation of ion cotransporters, regulating their activity.\n\nIntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Hepatocellular Carcinoma, Leiomyosarcoma, Pleural Mesothelioma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:14542","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14542"},{"label":"UniProt Q9Y3S1","url":"https://www.uniprot.org/uniprotkb/Q9Y3S1/entry"},{"label":"NCBI Gene 65268","url":"https://www.ncbi.nlm.nih.gov/gene/65268"},{"label":"Ensembl ENSG00000165238","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000165238"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["sarcoma","hcc","mesothelioma","leiomyosarcoma","pleural-mesothelioma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WNK2","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:14542","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14542","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y3S1","url":"https://www.uniprot.org/uniprotkb/Q9Y3S1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen WNK2","url":"https://www.intogen.org/search?gene=WNK2","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:14542","ensembl":"ENSG00000165238","uniprot":"Q9Y3S1","entrez":"65268","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2000, \"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11214970/","biology":"Serine/threonine-protein kinase component of the WNK2-SPAK/OSR1 kinase cascade, which plays an important role in the regulation of electrolyte homeostasis, cell signalling, survival, and proliferation. The WNK2-SPAK/OSR1 kinase cascade is composed of WNK2, which mediates phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK. Following activation, OXSR1/OSR1 and STK39/SPAK catalyse phosphorylation of ion cotransporters, regulating their activity. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SLC12A2, SCNN1A, SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5. Negatively regulates the EGF-induced activation of the ERK/MAPK-pathway and the downstream cell cycle progression. Location: Cytoplasm; Cell membrane (UniProt). Locus 9q22.31 (HGNC).","whereFound":["Sarcomas: IntOGen driver in 2 cohorts (LMS)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Mesothelioma: IntOGen driver in 1 cohort (PLMESO)","Leiomyosarcoma: IntOGen driver in 2 cohorts (LMS)","Pleural mesothelioma: IntOGen driver in 1 cohort (PLMESO)"],"targetClass":"kinase","prevalence":[]},{"id":"wnt1","kind":"target","name":"WNT1","aka":["Wnt family member 1","Proto-oncogene Wnt-1","INT1"],"tldr":"WNT1 (Proto-oncogene Wnt-1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Uterine carcinosarcoma.","summary":"Ligand for members of the frizzled family of seven transmembrane receptors. Acts in the canonical Wnt signalling pathway by promoting beta-catenin-dependent transcriptional activation. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signalling.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12774"},{"label":"UniProt P04628","url":"https://www.uniprot.org/uniprotkb/P04628/entry"},{"label":"NCBI Gene 7471","url":"https://www.ncbi.nlm.nih.gov/gene/7471"},{"label":"Ensembl ENSG00000125084","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125084"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["uterine-carcinosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WNT1","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12774","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12774","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P04628","url":"https://www.uniprot.org/uniprotkb/P04628/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen WNT1","url":"https://www.intogen.org/search?gene=WNT1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12774","ensembl":"ENSG00000125084","uniprot":"P04628","entrez":"7471","firstDescribed":1985,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: van Ooyen et al, EMBO J, 1985, \"The nucleotide sequence of the human int-1 mammary oncogene; evolutionary conservation of coding and non-coding sequences\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2998762/","biology":"Ligand for members of the frizzled family of seven transmembrane receptors. Acts in the canonical Wnt signalling pathway by promoting beta-catenin-dependent transcriptional activation. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signalling. Plays an essential role in the development of the embryonic brain and central nervous system (CNS). Has a role in osteoblast function, bone development and bone homeostasis. Location: Secreted, extracellular space, extracellular matrix; Secreted (UniProt). Locus 12q13.12 (HGNC).","whereFound":["Uterine carcinosarcoma: IntOGen driver in 1 cohort (UCS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"wnt11","kind":"target","name":"WNT11","aka":["Wnt family member 11"],"tldr":"WNT11 (Wnt family member 11) is a gene. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signalling molecule which affects the development of discrete regions of tissues.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12776"},{"label":"UniProt O96014","url":"https://www.uniprot.org/uniprotkb/O96014/entry"},{"label":"NCBI Gene 7481","url":"https://www.ncbi.nlm.nih.gov/gene/7481"},{"label":"Ensembl ENSG00000085741","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085741"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WNT11","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12776","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12776","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O96014","url":"https://www.uniprot.org/uniprotkb/O96014/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene WNT11","url":"https://civicdb.org/features/6119","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA WNT11: RNA tissue enhanced (adipose tissue 36 nTPM); blood lineage lineage enriched (NK-cells 3 nTPM); no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas WNT11 tissue","url":"https://www.proteinatlas.org/ENSG00000085741-WNT11/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000085741 associations","url":"https://platform.opentargets.org/target/ENSG00000085741/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12776","ensembl":"ENSG00000085741","uniprot":"O96014","entrez":"7481","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Lako et al, Gene, 1998, \"Isolation, characterisation and embryonic expression of WNT11, a gene which maps to 11q13.5 and has possible roles in the development of skeleton, kidney and lung\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9757009/","biology":"Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signalling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 11q13.5 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"wnt6","kind":"target","name":"WNT6","aka":["Wnt family member 6"],"tldr":"WNT6 (Wnt family member 6) is a gene. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer.","summary":"Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signalling molecule which affects the development of discrete regions of tissues.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 2 variants, naming Aspirin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12785"},{"label":"UniProt Q9Y6F9","url":"https://www.uniprot.org/uniprotkb/Q9Y6F9/entry"},{"label":"NCBI Gene 7475","url":"https://www.ncbi.nlm.nih.gov/gene/7475"},{"label":"Ensembl ENSG00000115596","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000115596"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WNT6","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12785","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12785","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6F9","url":"https://www.uniprot.org/uniprotkb/Q9Y6F9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene WNT6","url":"https://civicdb.org/features/6113","note":"1 evidence items, 0 assertions, 2 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA WNT6: RNA tissue enhanced (brain 10 nTPM); high antibody staining in 3 normal tissues. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Colorectal cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas WNT6 tissue","url":"https://www.proteinatlas.org/ENSG00000115596-WNT6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000115596 associations","url":"https://platform.opentargets.org/target/ENSG00000115596/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12785","ensembl":"ENSG00000115596","uniprot":"Q9Y6F9","entrez":"7475","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rankin et al, Cytogenet. Cell Genet, 1999, \"Partial cloning and assignment of WNT6 to human chromosome band 2q35 by in situ hybridization\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10343101/","biology":"Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signalling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Together with CAV1 may promote chemoresistance of gastric cancer cells to DNA-damaging anthracycline drugs through the activation of the canonical Wnt receptor signalling pathway. Location: Secreted, extracellular space, extracellular matrix (UniProt). Locus 2q35 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"wrap53","kind":"target","name":"WRAP53","aka":["WD repeat containing antisense to TP53","Telomerase Cajal body protein 1","FLJ10385","TCAB1","WDR79"],"tldr":"WRAP53 (Telomerase Cajal body protein 1) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"RNA chaperone that plays a key role in telomere maintenance and RNA localisation to Cajal bodies. Specifically recognises and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.24, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25522","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25522"},{"label":"UniProt Q9BUR4","url":"https://www.uniprot.org/uniprotkb/Q9BUR4/entry"},{"label":"NCBI Gene 55135","url":"https://www.ncbi.nlm.nih.gov/gene/55135"},{"label":"Ensembl ENSG00000141499","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141499"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WRAP53","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:25522","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25522","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9BUR4","url":"https://www.uniprot.org/uniprotkb/Q9BUR4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141499","url":"https://platform.opentargets.org/target/ENSG00000141499/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:25522","ensembl":"ENSG00000141499","uniprot":"Q9BUR4","entrez":"55135","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"RNA chaperone that plays a key role in telomere maintenance and RNA localisation to Cajal bodies. Specifically recognises and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes. In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex. Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity. In addition, also controls telomerase holoenzyme complex localisation to Cajal body. Location: Nucleus, Cajal body; Chromosome, telomere; Chromosome (UniProt). Locus 17p13.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"wrn","kind":"target","name":"WRN helicase (MSI-high cancers)","aka":[],"tldr":"A DNA-unwinding enzyme that mismatch-repair-deficient cancers cannot live without; the first WRN inhibitors are in trials as a chemotherapy-free option for MSI-high tumours that fail immunotherapy.","summary":"CRISPR screens (2019) identified WRN as a synthetic-lethal dependency in microsatellite-unstable (MSI-H/dMMR) cancers because expanded TA-dinucleotide repeats form secondary structures that only WRN helicase can resolve. First-in-class covalent WRN inhibitors (HRO761, RO7589831/VVD-133214, GSK4418959) entered phase 1 in 2023-24 with early responses in MSI-H colorectal cancer, including after checkpoint inhibitors. Relevant to ~15% of colorectal, ~30% of endometrial and ~20% of gastric cancers, and Lynch syndrome.","asOf":"2026-09-08","wikipedia":"https://en.wikipedia.org/wiki/Werner_syndrome_ATP-dependent_helicase","links":[{"label":"WRN dependency (Nature 2019)","url":"https://doi.org/10.1038/s41586-019-1102-x"}],"tags":["gap-fill"],"related":[],"cancers":["colorectal","endometrial","gastric"],"sections":[],"technologies":["synthetic-lethality-approaches","crispr-screens","cancer-cell-line-encyclopedias"],"targets":[],"drugs":["ndi-219216"],"companies":["novartis","roche-genentech","gsk"],"institutions":[],"pathways":[],"terms":["msi","synthetic-lethality","lynch-syndrome"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-chan-nature"],"journals":[],"dependsOn":[],"notes":[],"symbol":"WRN","role":[],"sources":[],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; the 1 medicine aimed at it (NDI-219216) act on the wild-type protein, so normal tissue is exposed and the therapeutic window comes from the tumour's faster division or its dependence on the protein. HPA WRN: RNA low tissue specificity; no normal tissue stained high. Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Endometrial cancer, Gastric & gastro-oesophageal junction cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas WRN tissue","url":"https://www.proteinatlas.org/ENSG00000165392-WRN/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000165392 associations","url":"https://platform.opentargets.org/target/ENSG00000165392/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12791","ensembl":"ENSG00000165392","uniprot":"Q14191","entrez":"7486","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Yu C.-E. et al, Science, 1996, \"Positional cloning of the Werner's syndrome gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8602509/","biology":"RecQ family 3'→5' DNA helicase and exonuclease; germline loss causes Werner progeroid syndrome; in MSI cancers its helicase (not exonuclease) activity prevents replication fork collapse at expanded (TA)n repeats.","whereFound":["MSI-H colorectal cancer (~15% of CRC; dependency)","MSI-H endometrial cancer (~30%)","MSI-H gastric cancer (~20%)","Lynch syndrome tumours"],"targetClass":"enzyme","prevalence":[{"cancerId":"colorectal","pct":"15","measure":"MSI-H (WRN-dependent)"},{"cancerId":"endometrial","pct":"30","measure":"MSI-H"},{"cancerId":"gastric","pct":"20","measure":"MSI-H"}]},{"id":"wt1","kind":"target","name":"WT1","aka":["WT1 transcription factor","Wilms tumor protein","WIT-2","AWT1","NPHS4","WT-1"],"tldr":"WT1 (Wilms tumour protein) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Mesothelioma, Myeloproliferative neoplasms and 5 more.","summary":"Transcription factor that plays an important role in cellular development and cell survival. Recognises and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'. Regulates the expression of numerous target genes, including EPO.\n\nCIViC holds 12 clinical evidence items and 0 assertions across 3 variants, naming Daunorubicin and Cytarabine. Open Targets scores its association with cancer at 0.90 (direct and indirect evidence; datatypes clinical 0.63, genetic literature 0.90, affected pathway 0.36, literature 1.00, genetic association 0.91, somatic mutation 0.89, animal model 0.68). IntOGen calls it a driver in 4 cohorts (1 activating, 3 loss-of-function), covering Acute Myeloid Leukaemia, Melanoma, Pancreatic Adenocarcinoma. In OnCo, 1 product record names it (INO-5401).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12796","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12796"},{"label":"UniProt P19544","url":"https://www.uniprot.org/uniprotkb/P19544/entry"},{"label":"NCBI Gene 7490","url":"https://www.ncbi.nlm.nih.gov/gene/7490"},{"label":"Ensembl ENSG00000184937","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184937"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","mesothelioma","myeloproliferative-neoplasms","non-hodgkin-lymphoma","sarcoma","pancreatic","wilms-tumor","aml"],"sections":[],"technologies":[],"targets":[],"drugs":["ino-5401"],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.63; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; CIViC holds 12 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WT1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12796","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12796","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P19544","url":"https://www.uniprot.org/uniprotkb/P19544/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene WT1","url":"https://civicdb.org/features/49","note":"12 evidence items, 0 assertions, 3 variants; diseases: Acute Myeloid Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000184937","url":"https://platform.opentargets.org/target/ENSG00000184937/associations","note":"association with cancer (MONDO_0004992) 0.90; per-cancer scores at or above 0.5: sarcoma 0.59, malignant mesothelioma 0.69, acute myeloid leukaemia 0.65, acute lymphoblastic leukaemia 0.56, non-Hodgkin lymphoma 0.60, myeloproliferative neoplasm 0.68 (GraphQL API, CC0)"},{"label":"IntOGen WT1","url":"https://www.intogen.org/search?gene=WT1","note":"driver in 4 cohorts (Act 1, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-associated","distribution":"many-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA cancer enriched in cancer (Ovary Serous Cystadenocarcinoma (TCGA)) and tissue enhanced in normal endometrium 1, fallopian tube, ovary, smooth muscle, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA WT1: RNA tissue enhanced (endometrium 1 42 nTPM, fallopian tube 49 nTPM, ovary 28 nTPM); high antibody staining in 5 normal tissues; highest cancer staining glioma (8 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Mesothelioma, Myeloid neoplasms, Lymphoma, Sarcomas (soft tissue, bone, GIST), Pancreatic ductal adenocarcinoma, Childhood cancers (all types)); Open Targets associates it with 7 specific cancer types at or above 0.5 (Wilms tumor 1, malignant mesothelioma, Nephroblastoma, Wilms tumor, WAGR syndrome, acute myeloid leukemia and more). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas WT1 tissue","url":"https://www.proteinatlas.org/ENSG00000184937-WT1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas WT1 pathology","url":"https://www.proteinatlas.org/ENSG00000184937-WT1/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000184937 associations","url":"https://platform.opentargets.org/target/ENSG00000184937/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12796","ensembl":"ENSG00000184937","uniprot":"P19544","entrez":"7490","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gessler et al, Nature, 1990, \"Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2154702/","biology":"Transcription factor that plays an important role in cellular development and cell survival. Recognises and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3'. Regulates the expression of numerous target genes, including EPO. Plays an essential role for development of the urogenital system. It has a tumour suppressor as well as an oncogenic role in tumour formation. Function may be isoform-specific: isoforms lacking the KTS motif may act as transcription factors. Location: Nucleus; Nucleus, nucleolus; Cytoplasm; Nucleus speckle (UniProt). Locus 11p13 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.72 with leukaemia (MONDO_0005059)","Mesothelioma: Open Targets association 0.69 with malignant mesothelioma (MONDO_0006292)","Myeloproliferative neoplasms: Open Targets association 0.68 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.60 with non-Hodgkin lymphoma (MONDO_0018908)","Sarcomas: Open Targets association 0.59 with sarcoma (MONDO_0005089)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)"],"targetClass":"transcription","prevalence":[]},{"id":"wwox","kind":"target","name":"WWOX","aka":["WW domain containing oxidoreductase","WW domain-containing oxidoreductase","WOX1","SDR41C1"],"tldr":"WWOX (WW domain-containing oxidoreductase) is an enzyme. In the public catalogues the evidence so far is association rather than a proven role. Tied to Oesophageal cancer.","summary":"Putative oxidoreductase. Acts as a tumour suppressor and plays a role in apoptosis. Required for normal bone development.\n\nOpen Targets scores its association with cancer at 0.64 (direct and indirect evidence; datatypes genetic literature 0.30, literature 0.98, genetic association 0.76, somatic mutation 0.55, animal model 0.49).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12799"},{"label":"UniProt Q9NZC7","url":"https://www.uniprot.org/uniprotkb/Q9NZC7/entry"},{"label":"NCBI Gene 51741","url":"https://www.ncbi.nlm.nih.gov/gene/51741"},{"label":"Ensembl ENSG00000186153","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186153"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["esophageal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WWOX","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12799","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12799","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NZC7","url":"https://www.uniprot.org/uniprotkb/Q9NZC7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000186153","url":"https://platform.opentargets.org/target/ENSG00000186153/associations","note":"association with cancer (MONDO_0004992) 0.64; per-cancer scores at or above 0.5: oesophageal cancer 0.62 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12799","ensembl":"ENSG00000186153","uniprot":"Q9NZC7","entrez":"51741","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bednarek A.K. et al, Cancer Res, 2000, \"WWOX, a novel WW domain-containing protein mapping to human chromosome 16q23.3-24.1, a region frequently affected in breast cancer\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10786676/","biology":"Putative oxidoreductase. Acts as a tumour suppressor and plays a role in apoptosis. Required for normal bone development. May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signalling and TGFB1-mediated cell death. May also play a role in tumour necrosis factor (TNF)-mediated cell death. Location: Cytoplasm; Nucleus; Mitochondrion; Golgi apparatus (UniProt). Locus 16q23.1-q23.2 (HGNC).","whereFound":["Oesophageal cancer: Open Targets association 0.62 with oesophageal cancer (MONDO_0007576)"],"targetClass":"enzyme","prevalence":[]},{"id":"wwtr1","kind":"target","name":"WWTR1","aka":["WW domain containing transcription regulator 1","WW domain-containing transcription regulator protein 1","DKFZp586I1419"],"tldr":"WWTR1 (WW domain-containing transcription regulator protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Ovarian cancer, Breast cancer and Skin cancer.","summary":"Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signalling pathway that plays a pivotal role in organ size control and tumour suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. WWTR1 enhances PAX8 and NKX2-1/TTF1-dependent gene activation.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes affected pathway 0.25, literature 0.99, genetic association 0.00, somatic mutation 0.98, animal model 0.53). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Ovarian Epithelial Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24042","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24042"},{"label":"UniProt Q9GZV5","url":"https://www.uniprot.org/uniprotkb/Q9GZV5/entry"},{"label":"NCBI Gene 25937","url":"https://www.ncbi.nlm.nih.gov/gene/25937"},{"label":"Ensembl ENSG00000018408","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000018408"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["ovarian","breast-cancer","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"WWTR1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24042","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24042","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9GZV5","url":"https://www.uniprot.org/uniprotkb/Q9GZV5/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000018408","url":"https://platform.opentargets.org/target/ENSG00000018408/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: skin cancer 0.52, breast cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen WWTR1","url":"https://www.intogen.org/search?gene=WWTR1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:24042","ensembl":"ENSG00000018408","uniprot":"Q9GZV5","entrez":"25937","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kanai et al, EMBO J, 2000, \"TAZ: a novel transcriptional co-activator regulated by interactions with 14-3-3 and PDZ domain proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11118213/","biology":"Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signalling pathway that plays a pivotal role in organ size control and tumour suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. WWTR1 enhances PAX8 and NKX2-1/TTF1-dependent gene activation. In conjunction with YAP1, involved in the regulation of TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation. Plays a key role in coupling SMADs to the transcriptional machinery such as the mediator complex. Regulates embryonic stem-cell self-renewal, promotes cell proliferation and epithelial-mesenchymal transition. Location: Nucleus; Cytoplasm; Cell membrane; Cell junction, tight junction (UniProt). Locus 3q25.1 (HGNC).","whereFound":["Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Breast cancer: Open Targets association 0.55 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)"],"targetClass":"oncogene","prevalence":[]},{"id":"xdh","kind":"target","name":"Xanthine oxidase (XDH)","aka":[],"tldr":"Xanthine oxidase makes uric acid from the breakdown of DNA; allopurinol blocks it to prevent the kidney damage of tumour lysis syndrome when chemotherapy kills many cancer cells at once.","summary":"Xanthine dehydrogenase/oxidase converts hypoxanthine and xanthine, released when nucleic acids from dying cells are broken down, into uric acid. When treatment destroys a large tumour burden quickly, as in acute leukaemia and high-grade lymphoma, the surge of uric acid can crystallise in the kidneys; allopurinol inhibits xanthine oxidase to stop new uric acid forming, and rasburicase breaks down uric acid that already exists. Allopurinol is standard prophylaxis for patients at intermediate risk of tumour lysis syndrome, with rasburicase reserved for high-risk or established cases.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Xanthine_oxidase","links":[{"label":"UniProt P47989: XDH","url":"https://www.uniprot.org/uniprotkb/P47989/entry"},{"label":"HGNC:12805 XDH","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12805"},{"label":"ChEMBL target CHEMBL1929","url":"https://www.ebi.ac.uk/chembl/explore/target/CHEMBL1929"}],"tags":["chembl-gap"],"related":[],"cancers":["all-leukemia","aml","burkitt-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":["rasburicase"],"companies":[],"institutions":[],"pathways":[],"terms":["tumor-lysis-syndrome"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"symbol":"XDH","role":[],"sources":[],"specificity":"tumour-associated","distribution":"few-types","specificityNote":"Tumour-associated overexpression: HPA finds the RNA group enriched in normal breast, intestine, liver, so the tumour and the normal tissue it comes from share the target and the medicine relies on the difference in level. HPA XDH: RNA group enriched (breast 39 nTPM, intestine 47 nTPM, liver 64 nTPM); no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (leukemia, lymphoma). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas XDH tissue","url":"https://www.proteinatlas.org/ENSG00000158125-XDH/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Human Protein Atlas XDH pathology","url":"https://www.proteinatlas.org/ENSG00000158125-XDH/pathology","note":"patients per staining level per cancer type (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000158125 associations","url":"https://platform.opentargets.org/target/ENSG00000158125/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12805","ensembl":"ENSG00000158125","uniprot":"P47989","entrez":"7498","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ichida et al, Gene, 1993, \"Cloning of the cDNA encoding human xanthine dehydrogenase (oxidase): structural analysis of the protein and chromosomal location of the gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8224915/","biology":"A molybdenum-containing enzyme of purine catabolism in liver and gut; its oxidase form also generates reactive oxygen species.","whereFound":["Liver and intestinal epithelium","Relevant during induction chemotherapy for leukaemia and lymphoma"],"targetClass":"enzyme","prevalence":[{"cancerId":"metastatic-cancer","pct":"host","measure":"Host target: xanthine oxidase in uric acid formation. Not a tumour alteration, so no prevalence applies; the drug acts on normal tissue or on symptoms."}]},{"id":"xpa","kind":"target","name":"XPA","aka":["XPA, DNA damage recognition and repair factor","DNA repair protein complementing XP-A cells","XP1"],"tldr":"XPA (DNA repair protein complementing XP-A cells) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Skin cancer, Colorectal cancer and Basal cell carcinoma.","summary":"Involved in DNA nucleotide excision repair (NER). Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation.\n\nOpen Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes literature 0.94, animal model 0.26, genetic association 0.83, somatic mutation 0.95).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12814","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12814"},{"label":"UniProt P23025","url":"https://www.uniprot.org/uniprotkb/P23025/entry"},{"label":"NCBI Gene 7507","url":"https://www.ncbi.nlm.nih.gov/gene/7507"},{"label":"Ensembl ENSG00000136936","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000136936"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["skin-cancer","colorectal","basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"XPA","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12814","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12814","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23025","url":"https://www.uniprot.org/uniprotkb/P23025/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000136936","url":"https://platform.opentargets.org/target/ENSG00000136936/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: colorectal cancer 0.51, skin cancer 0.62, basal cell carcinoma 0.59 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12814","ensembl":"ENSG00000136936","uniprot":"P23025","entrez":"7507","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tanaka et al, Nature, 1990, \"Analysis of a human DNA excision repair gene involved in group A Xeroderma pigmentosum and containing a zinc-finger domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2234061/","biology":"Involved in DNA nucleotide excision repair (NER). Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation. During NER stimulates the 5'-3' helicase activity of XPD/ERCC2 and the DNA translocase activity of XPB/ERCC3. Connects XPD/ERCC2 and XPB/ERCC3 during NER, retaining DNA near the XPB/ERCC3 active site, and stabilising the complex in a different conformation than in transcribing TFIIH. Location: Nucleus (UniProt). Locus 9q22.33 (HGNC).","whereFound":["Skin cancer: Open Targets association 0.62 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.51 with colorectal cancer (MONDO_0005575)","Basal cell carcinoma: Open Targets association 0.59 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"other","prevalence":[]},{"id":"xpc","kind":"target","name":"XPC","aka":["XPC complex subunit, DNA damage recognition and repair factor","DNA repair protein complementing XP-C cells","RAD4"],"tldr":"XPC (DNA repair protein complementing XP-C cells) is a protein that switches other genes on and off. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Lung cancer and Prostate cancer.","summary":"Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.98, animal model 0.71, genetic association 0.62, somatic mutation 0.93).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12816","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12816"},{"label":"UniProt Q01831","url":"https://www.uniprot.org/uniprotkb/Q01831/entry"},{"label":"NCBI Gene 7508","url":"https://www.ncbi.nlm.nih.gov/gene/7508"},{"label":"Ensembl ENSG00000154767","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000154767"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["lung-cancer","prostate"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"XPC","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12816","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12816","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01831","url":"https://www.uniprot.org/uniprotkb/Q01831/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000154767","url":"https://platform.opentargets.org/target/ENSG00000154767/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: prostate cancer 0.53, lung cancer 0.54 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12816","ensembl":"ENSG00000154767","uniprot":"Q01831","entrez":"7508","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Legerski R.J. et al, Nature, 1992, \"Expression cloning of a human DNA repair gene involved in Xeroderma pigmentosum group C\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1522891/","biology":"Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides. This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA-binding activity. The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognises a wide spectrum of damaged DNA characterised by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. Location: Nucleus; Chromosome; Cytoplasm (UniProt). Locus 3p25.1 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)","Prostate cancer: Open Targets association 0.53 with prostate cancer (MONDO_0008315)"],"targetClass":"transcription","prevalence":[]},{"id":"xrcc1","kind":"target","name":"XRCC1","aka":["X-ray repair cross complementing 1","DNA repair protein XRCC1"],"tldr":"XRCC1 (DNA repair protein XRCC1) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Cervical cancer and Non-small-cell lung cancer.","summary":"Scaffold protein involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Negatively regulates ADP-ribosyltransferase activity of PARP1 during base-excision repair in order to prevent excessive PARP1 activity. Recognises and binds poly-ADP-ribose chains: specifically binds auto-poly-ADP-ribosylated PARP1, limiting its activity.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Docetaxel, Gemcitabine, Carboplatin and Vinorelbine and others. Open Targets scores its association with cancer at 0.50 (direct and indirect evidence; datatypes literature 0.99, genetic association 0.78).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12828","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12828"},{"label":"UniProt P18887","url":"https://www.uniprot.org/uniprotkb/P18887/entry"},{"label":"NCBI Gene 7515","url":"https://www.ncbi.nlm.nih.gov/gene/7515"},{"label":"Ensembl ENSG00000073050","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000073050"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["cervical","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["base-excision-repair-parp"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 5 therapies; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"XRCC1","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12828","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12828","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P18887","url":"https://www.uniprot.org/uniprotkb/P18887/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene XRCC1","url":"https://civicdb.org/features/6144","note":"3 evidence items, 0 assertions, 2 variants; diseases: Lung Non-small Cell Carcinoma, Cervical Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000073050","url":"https://platform.opentargets.org/target/ENSG00000073050/associations","note":"association with cancer (MONDO_0004992) 0.50;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA XRCC1: RNA low tissue specificity; high antibody staining in 35 normal tissues; highest cancer staining urothelial cancer (12 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Cervical cancer, Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas XRCC1 tissue","url":"https://www.proteinatlas.org/ENSG00000073050-XRCC1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000073050 associations","url":"https://platform.opentargets.org/target/ENSG00000073050/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12828","ensembl":"ENSG00000073050","uniprot":"P18887","entrez":"7515","firstDescribed":1990,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Thompson L.H. et al, Mol. Cell. Biol, 1990, \"Molecular cloning of the human XRCC1 gene, which corrects defective DNA strand break repair and sister chromatid exchange\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2247054/","biology":"Scaffold protein involved in DNA single-strand break repair by mediating the assembly of DNA break repair protein complexes. Negatively regulates ADP-ribosyltransferase activity of PARP1 during base-excision repair in order to prevent excessive PARP1 activity. Recognises and binds poly-ADP-ribose chains: specifically binds auto-poly-ADP-ribosylated PARP1, limiting its activity. Location: Nucleus; Chromosome (UniProt). Locus 19q13.31 (HGNC).","whereFound":["Cervical cancer: CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"xrcc2","kind":"target","name":"XRCC2","aka":["X-ray repair cross complementing 2","DNA repair protein XRCC2","FANCU"],"tldr":"XRCC2 (DNA repair protein XRCC2) is a gene. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role.","summary":"Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.87, genetic association 0.74, genetic literature 0.61).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12829","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12829"},{"label":"UniProt O43543","url":"https://www.uniprot.org/uniprotkb/O43543/entry"},{"label":"NCBI Gene 7516","url":"https://www.ncbi.nlm.nih.gov/gene/7516"},{"label":"Ensembl ENSG00000196584","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196584"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword \"DNA repair\". Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"XRCC2","role":["dna-repair"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12829","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12829","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43543","url":"https://www.uniprot.org/uniprotkb/O43543/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000196584","url":"https://platform.opentargets.org/target/ENSG00000196584/associations","note":"association with cancer (MONDO_0004992) 0.70;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12829","ensembl":"ENSG00000196584","uniprot":"O43543","entrez":"7516","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tambini C.E. et al, Genomics, 1997, \"The XRCC2 DNA repair gene: identification of a positional candidate\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9126486/","biology":"Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Location: Nucleus; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (UniProt). Locus 7q36.1 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"xrcc3","kind":"target","name":"XRCC3","aka":["X-ray repair cross complementing 3","DNA repair protein XRCC3"],"tldr":"XRCC3 (DNA repair protein XRCC3) is a gene. The public catalogues list it as a drug target, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Triple-negative breast cancer.","summary":"Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Cisplatin.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12830","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12830"},{"label":"UniProt O43542","url":"https://www.uniprot.org/uniprotkb/O43542/entry"},{"label":"NCBI Gene 7517","url":"https://www.ncbi.nlm.nih.gov/gene/7517"},{"label":"Ensembl ENSG00000126215","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000126215"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["tnbc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"XRCC3","role":["drug-target","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12830","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12830","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43542","url":"https://www.uniprot.org/uniprotkb/O43542/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene XRCC3","url":"https://civicdb.org/features/6146","note":"1 evidence items, 0 assertions, 1 variants; diseases: Triple-negative Breast Cancer (GraphQL API, CC0)"}],"specificity":"germline-variant","distribution":"one-type","specificityNote":"Germline variant: UniProt lists Breast cancer (BC) under involvement in disease, and the record is a DNA repair gene; the medicines linked to it act through the loss (synthetic lethality) or use the variant to pick patients. HPA XRCC3: RNA low tissue specificity; no normal tissue stained high. Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 2 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt O43542","url":"https://www.uniprot.org/uniprotkb/O43542/entry","note":"involvement in disease"},{"label":"Human Protein Atlas XRCC3 tissue","url":"https://www.proteinatlas.org/ENSG00000126215-XRCC3/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000126215 associations","url":"https://platform.opentargets.org/target/ENSG00000126215/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12830","ensembl":"ENSG00000126215","uniprot":"O43542","entrez":"7517","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Liu et al, Mol. Cell, 1998, \"XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9660962/","biology":"Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C. Location: Nucleus; Cytoplasm; Cytoplasm, perinuclear region; Mitochondrion (UniProt). Locus 14q32.33 (HGNC).","whereFound":["Triple-negative breast cancer: CIViC evidence names this disease"],"targetClass":"other","prevalence":[]},{"id":"yap1","kind":"target","name":"YAP1","aka":["Yes1 associated transcriptional regulator","Transcriptional coactivator YAP1","YAP65","YAP-1"],"tldr":"YAP1 (Transcriptional coactivator YAP1) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer and Breast cancer.","summary":"Transcriptional regulator with dual roles as a coactivator and corepressor. Critical downstream regulatory target in the Hippo signalling pathway, crucial for organ size control and tumour suppression by restricting proliferation and promoting apoptosis. The Hippo signalling pathway core involves a kinase cascade featuring STK3/MST2 and STK4/MST1, along with its regulatory partner SAV1, which phosphorylates and activates LATS1/2 in complex with their regulatory protein, MOB1.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Docetaxel, Verteporfin and Fluorouracil. Open Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes affected pathway 0.27, literature 1.00, genetic association 0.00, somatic mutation 0.97, animal model 0.53).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16262","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16262"},{"label":"UniProt P46937","url":"https://www.uniprot.org/uniprotkb/P46937/entry"},{"label":"NCBI Gene 10413","url":"https://www.ncbi.nlm.nih.gov/gene/10413"},{"label":"Ensembl ENSG00000137693","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137693"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["esophageal","breast-cancer","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["hippo-yap","lineage-plasticity-neuroendocrine"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 3 therapies; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Small-cell lung cancer: YAP1 was proposed as the fourth subtype marker from laboratory models (Rudin 2019) and has been hard to confirm in patients: it is expressed at low levels, mostly in combined small-cell carcinomas, and is not mutually exclusive of the other markers (Baine 2020). Expression-based analysis replaced it with an inflamed subtype defined by immune signalling rather than by a transcription factor (Gay 2021)."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"YAP1","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:16262","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16262","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P46937","url":"https://www.uniprot.org/uniprotkb/P46937/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene YAP1","url":"https://civicdb.org/features/8292","note":"3 evidence items, 0 assertions, 2 variants; diseases: Oesophageal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000137693","url":"https://platform.opentargets.org/target/ENSG00000137693/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: breast cancer 0.54 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA YAP1: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining cervical cancer (2 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Oesophageal cancer, Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas YAP1 tissue","url":"https://www.proteinatlas.org/ENSG00000137693-YAP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000137693 associations","url":"https://platform.opentargets.org/target/ENSG00000137693/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:16262","ensembl":"ENSG00000137693","uniprot":"P46937","entrez":"10413","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sudol et al, J. Biol. Chem, 1995, \"Characterization of the mammalian YAP (Yes-associated protein) gene and its role in defining a novel protein module, the WW domain\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7782338/","biology":"Transcriptional regulator with dual roles as a coactivator and corepressor. Critical downstream regulatory target in the Hippo signalling pathway, crucial for organ size control and tumour suppression by restricting proliferation and promoting apoptosis. The Hippo signalling pathway core involves a kinase cascade featuring STK3/MST2 and STK4/MST1, along with its regulatory partner SAV1, which phosphorylates and activates LATS1/2 in complex with their regulatory protein, MOB1. This activation leads to the phosphorylation and inactivation of the YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 prevents its nuclear translocation, thereby regulating the expression of its target genes. The transcriptional regulation of gene expression requires TEAD transcription factors and modulates cell growth, anchorage-independent growth, and induction of epithelial-mesenchymal transition (EMT). Location: Cytoplasm; Nucleus; Cell junction, tight junction; Cell membrane (UniProt). Locus 11q22.1 (HGNC).","whereFound":["Oesophageal cancer: CIViC evidence names this disease","Breast cancer: Open Targets association 0.54 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"yes1","kind":"target","name":"YES1","aka":["YES proto-oncogene 1, Src family tyrosine kinase","Tyrosine-protein kinase Yes","Yes","c-yes","HsT441"],"tldr":"YES1 (Tyrosine-protein kinase Yes) is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target and a biomarker, and an approved or late-stage drug is recorded against it. Tied to Breast cancer, Lung cancer, Leukaemia and 5 more.","summary":"Non-receptor protein tyrosine kinase that is involved in the regulation of cell growth and survival, apoptosis, cell-cell adhesion, cytoskeleton remodeling, and differentiation. Stimulation by receptor tyrosine kinases (RTKs) including EGFR, PDGFR, CSF1R and FGFR leads to recruitment of YES1 to the phosphorylated receptor, and activation and phosphorylation of downstream substrates. Upon EGFR activation, promotes the phosphorylation of PARD3 to favor epithelial tight junction assembly.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 2 variants, naming Neratinib, Dasatinib and CH6953755. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.91, genetic association 0.37, clinical 0.96).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12841","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12841"},{"label":"UniProt P07947","url":"https://www.uniprot.org/uniprotkb/P07947/entry"},{"label":"NCBI Gene 7525","url":"https://www.ncbi.nlm.nih.gov/gene/7525"},{"label":"Ensembl ENSG00000176105","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000176105"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","lung-cancer","leukaemia","myeloproliferative-neoplasms","non-hodgkin-lymphoma","sclc","cml","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: Open Targets known-drug datatype score 0.97; CIViC holds 3 clinical evidence items on its variants. Evidence tier \"approved-drug\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"YES1","role":["drug-target","biomarker"],"evidenceTier":"approved-drug","sources":[{"label":"HGNC HGNC:12841","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12841","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P07947","url":"https://www.uniprot.org/uniprotkb/P07947/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene YES1","url":"https://civicdb.org/features/6152","note":"3 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer, Lung Cancer, Lung Small Cell Carcinoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000176105","url":"https://platform.opentargets.org/target/ENSG00000176105/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.55, non-Hodgkin lymphoma 0.55, chronic myelogenous leukaemia, BCR-ABL1 positive 0.58, myeloproliferative neoplasm 0.58, leukaemia 0.59 (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"many-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA YES1: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 20 nTPM); no normal tissue stained high; highest cancer staining colorectal cancer (1 of 12 high). Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lung cancer (all types), Leukaemia, Myeloid neoplasms, Lymphoma); Open Targets associates it with 2 specific cancer types at or above 0.5 (chronic myeloid leukemia, acute lymphoblastic leukemia). (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas YES1 tissue","url":"https://www.proteinatlas.org/ENSG00000176105-YES1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000176105 associations","url":"https://platform.opentargets.org/target/ENSG00000176105/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12841","ensembl":"ENSG00000176105","uniprot":"P07947","entrez":"7525","firstDescribed":1987,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Sukegawa et al, Mol. Cell. Biol, 1987, \"Characterization of cDNA clones for the human c-yes gene\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2436037/","biology":"Non-receptor protein tyrosine kinase that is involved in the regulation of cell growth and survival, apoptosis, cell-cell adhesion, cytoskeleton remodeling, and differentiation. Stimulation by receptor tyrosine kinases (RTKs) including EGFR, PDGFR, CSF1R and FGFR leads to recruitment of YES1 to the phosphorylated receptor, and activation and phosphorylation of downstream substrates. Upon EGFR activation, promotes the phosphorylation of PARD3 to favor epithelial tight junction assembly. Participates in the phosphorylation of specific junctional components such as CTNND1 by stimulating the FYN and FER tyrosine kinases at cell-cell contacts. Upon T-cell stimulation by CXCL12, phosphorylates collapsin response mediator protein 2/DPYSL2 and induces T-cell migration. Participates in CD95L/FASLG signalling pathway and mediates AKT-mediated cell migration. Location: Cell membrane; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome; Cytoplasm, cytosol; Cell junction (UniProt). Locus 18p11.32 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","Lung cancer: CIViC evidence names this disease","Leukaemia: Open Targets association 0.59 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.58 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"kinase","prevalence":[]},{"id":"ywhab","kind":"target","name":"YWHAB","aka":["tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta","14-3-3 protein beta/alpha","YWHAA"],"tldr":"YWHAB (14-3-3 protein beta/alpha) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Adapter protein implicated in the regulation of a large spectrum of both general and specialised signalling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner.\n\nOpen Targets scores its association with cancer at 0.62 (direct and indirect evidence; datatypes literature 0.92, affected pathway 0.97, animal model 0.30, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12849","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12849"},{"label":"UniProt P31946","url":"https://www.uniprot.org/uniprotkb/P31946/entry"},{"label":"NCBI Gene 7529","url":"https://www.ncbi.nlm.nih.gov/gene/7529"},{"label":"Ensembl ENSG00000166913","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000166913"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"YWHAB","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12849","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12849","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P31946","url":"https://www.uniprot.org/uniprotkb/P31946/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000166913","url":"https://platform.opentargets.org/target/ENSG00000166913/associations","note":"association with cancer (MONDO_0004992) 0.62;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12849","ensembl":"ENSG00000166913","uniprot":"P31946","entrez":"7529","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Leffers et al, J. Mol. Biol, 1993, \"Molecular cloning and expression of the transformation sensitive epithelial marker stratifin. A member of a protein family that has been involved in the protein kinase C signalling pathway\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8515476/","biology":"Adapter protein implicated in the regulation of a large spectrum of both general and specialised signalling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negative regulator of osteogenesis. Blocks the nuclear translocation of the phosphorylated form (by AKT1) of SRPK2 and antagonises its stimulatory effect on cyclin D1 expression resulting in blockage of neuronal apoptosis elicited by SRPK2. Negative regulator of signalling cascades that mediate activation of MAP kinases via AKAP13. Location: Cytoplasm; Melanosome; Vacuole membrane (UniProt). Locus 20q13.12 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"ywhae","kind":"target","name":"YWHAE","aka":["tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon","14-3-3 protein epsilon","FLJ45465"],"tldr":"YWHAE (14-3-3 protein epsilon) is a gene. In the public catalogues the evidence so far is association rather than a proven role. Tied to Sarcomas.","summary":"Adapter protein implicated in the regulation of a large spectrum of both general and specialised signalling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.94, genetic association 0.00, somatic mutation 0.98).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12851","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12851"},{"label":"UniProt P62258","url":"https://www.uniprot.org/uniprotkb/P62258/entry"},{"label":"NCBI Gene 7531","url":"https://www.ncbi.nlm.nih.gov/gene/7531"},{"label":"Ensembl ENSG00000108953","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108953"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"YWHAE","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:12851","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12851","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P62258","url":"https://www.uniprot.org/uniprotkb/P62258/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108953","url":"https://platform.opentargets.org/target/ENSG00000108953/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: sarcoma 0.59 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:12851","ensembl":"ENSG00000108953","uniprot":"P62258","entrez":"7531","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Demeter et al, Immunology, 1991, \"Isolation and partial characterization of the structures of fibroblast activating factor-related proteins from U937 cells\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2026444/","biology":"Adapter protein implicated in the regulation of a large spectrum of both general and specialised signalling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Positively regulates phosphorylated protein HSF1 nuclear export to the cytoplasm. Plays a positive role in the antiviral signalling pathway upstream of TBK1 via interaction with RIGI. Mechanistically, directs RIGI redistribution from the cytosol to mitochondrial associated membranes where it mediates MAVS-dependent innate immune signalling during viral infection. Location: Nucleus; Cytoplasm; Melanosome (UniProt). Locus 17p13.3 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.59 with sarcoma (MONDO_0005089)"],"targetClass":"other","prevalence":[]},{"id":"zbtb10","kind":"target","name":"ZBTB10","aka":["zinc finger and BTB domain containing 10","Zinc finger and BTB domain-containing protein 10","RINZF","FLJ12752"],"tldr":"ZBTB10 (Zinc finger and BTB domain-containing protein 10) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Basal cell carcinoma.","summary":"May be involved in transcriptional regulation.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes literature 0.88, animal model 0.52, genetic association 0.67).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30953","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30953"},{"label":"UniProt Q96DT7","url":"https://www.uniprot.org/uniprotkb/Q96DT7/entry"},{"label":"NCBI Gene 65986","url":"https://www.ncbi.nlm.nih.gov/gene/65986"},{"label":"Ensembl ENSG00000205189","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000205189"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["basal-cell-carcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZBTB10","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:30953","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30953","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96DT7","url":"https://www.uniprot.org/uniprotkb/Q96DT7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000205189","url":"https://platform.opentargets.org/target/ENSG00000205189/associations","note":"association with cancer (MONDO_0004992) 0.55; per-cancer scores at or above 0.5: basal cell carcinoma 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:30953","ensembl":"ENSG00000205189","uniprot":"Q96DT7","entrez":"65986","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kashuba V.I. et al, 2001.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q96DT7/entry","biology":"May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 8q21.13 (HGNC).","whereFound":["Basal cell carcinoma: Open Targets association 0.51 with basal cell carcinoma (MONDO_0020804)"],"targetClass":"transcription","prevalence":[]},{"id":"zbtb16","kind":"target","name":"ZBTB16","aka":["zinc finger and BTB domain containing 16","Zinc finger and BTB domain-containing protein 16","ZNF145"],"tldr":"ZBTB16 (Zinc finger and BTB domain-containing protein 16) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Oesophageal cancer, Skin cancer and 4 more.","summary":"Acts as a transcriptional repressor. Transcriptional repression may be mediated through recruitment of histone deacetylases to target promoters. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues.\n\nOpen Targets scores its association with cancer at 0.72 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.98, genetic association 0.43, somatic mutation 0.84, animal model 0.64). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Oesophageal Squamous Cell Carcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12930","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12930"},{"label":"UniProt Q05516","url":"https://www.uniprot.org/uniprotkb/Q05516/entry"},{"label":"NCBI Gene 7704","url":"https://www.ncbi.nlm.nih.gov/gene/7704"},{"label":"Ensembl ENSG00000109906","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000109906"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","esophageal","skin-cancer","breast-cancer","lung-cancer","oesophageal-squamous-cell-carcinoma","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-robinson-integrative-clinical-genomics-advanced-prostate-cell-2015","paper-stopsack-prostate-genomes-by-race-ccr-2022"],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZBTB16","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12930","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12930","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q05516","url":"https://www.uniprot.org/uniprotkb/Q05516/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000109906","url":"https://platform.opentargets.org/target/ENSG00000109906/associations","note":"association with cancer (MONDO_0004992) 0.72; per-cancer scores at or above 0.5: prostate cancer 0.51, melanoma 0.52, skin cancer 0.55, breast cancer 0.53, lung cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen ZBTB16","url":"https://www.intogen.org/search?gene=ZBTB16","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12930","ensembl":"ENSG00000109906","uniprot":"Q05516","entrez":"7704","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Chen et al, EMBO J, 1993, \"Fusion between a novel Kruppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8384553/","biology":"Acts as a transcriptional repressor. Transcriptional repression may be mediated through recruitment of histone deacetylases to target promoters. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Location: Nucleus; Nucleus, nuclear body (UniProt). Locus 11q23.2 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.51 with prostate cancer (MONDO_0008315); IntOGen driver in 1 cohort (PRAD)","Oesophageal cancer: IntOGen driver in 1 cohort (ESCC)","Skin cancer: Open Targets association 0.55 with skin cancer (MONDO_0002898)","Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Oesophageal squamous cell carcinoma: IntOGen driver in 1 cohort (ESCC)","Prostate cancer: deletion or truncating mutation 1-9% depending on disease state"],"targetClass":"transcription","prevalence":[{"cancerId":"prostate","pct":"1-9","measure":"Deletion or truncating mutation","source":"https://www.cbioportal.org/study/summary?id=prad_p1000","note":"cBioPortal ZBTB16 deep deletion: 43 of 1,013, 4.2%, in prad_p1000; 17 of 489, 3.5%, in prad_tcga_pan_can_atlas_2018; 13 of 444, 2.9%, in prad_su2c_2019; 8 of 150, 5.3%, in prad_su2c_2015. ZFHX3 mutation: 142 of 2,260, 6.3%, in prostate_msk_2024; 22 of 444, 5.0%, in prad_su2c_2019, with deep deletion 29 of 489, 5.9%, in prad_tcga_pan_can_atlas_2018."}]},{"id":"zbtb20","kind":"target","name":"ZBTB20","aka":["zinc finger and BTB domain containing 20","Zinc finger and BTB domain-containing protein 20","ODA-8S","DKFZp566F123","ZNF288"],"tldr":"ZBTB20 (Zinc finger and BTB domain-containing protein 20) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts.","summary":"May be a transcription factor that may be involved in haematopoiesis, oncogenesis, and immune responses. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Low-Grade Glioma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13503","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13503"},{"label":"UniProt Q9HC78","url":"https://www.uniprot.org/uniprotkb/Q9HC78/entry"},{"label":"NCBI Gene 26137","url":"https://www.ncbi.nlm.nih.gov/gene/26137"},{"label":"Ensembl ENSG00000181722","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000181722"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZBTB20","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:13503","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13503","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9HC78","url":"https://www.uniprot.org/uniprotkb/Q9HC78/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZBTB20","url":"https://www.intogen.org/search?gene=ZBTB20","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:13503","ensembl":"ENSG00000181722","uniprot":"Q9HC78","entrez":"26137","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, Biochem. Biophys. Res. Commun, 2001, \"Identification and characterization of DPZF, a novel human BTB/POZ zinc finger protein sharing homology to BCL-6\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11352661/","biology":"May be a transcription factor that may be involved in haematopoiesis, oncogenesis, and immune responses. Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal. Location: Nucleus (UniProt). Locus 3q13.31 (HGNC).","whereFound":[],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"zbtb48","kind":"target","name":"ZBTB48","aka":["zinc finger and BTB domain containing 48","Zinc finger and BTB domain-containing protein 48","ZNF855","HKR3"],"tldr":"ZBTB48 (Zinc finger and BTB domain-containing protein 48) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Angiosarcoma.","summary":"Plays a critical role in transcriptional regulation and chromatin remodeling. Acts as a regulator of telomere length. Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Angiosarcoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:4930","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4930"},{"label":"UniProt P10074","url":"https://www.uniprot.org/uniprotkb/P10074/entry"},{"label":"NCBI Gene 3104","url":"https://www.ncbi.nlm.nih.gov/gene/3104"},{"label":"Ensembl ENSG00000204859","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204859"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["angiosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZBTB48","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:4930","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:4930","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P10074","url":"https://www.uniprot.org/uniprotkb/P10074/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZBTB48","url":"https://www.intogen.org/search?gene=ZBTB48","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:4930","ensembl":"ENSG00000204859","uniprot":"P10074","entrez":"3104","firstDescribed":1988,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ruppert J.M. et al, Mol. Cell. Biol, 1988, \"The GLI-Kruppel family of human genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2850480/","biology":"Plays a critical role in transcriptional regulation and chromatin remodeling. Acts as a regulator of telomere length. Directly binds the telomeric double-stranded 5'-TTAGGG-3' repeat. Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres. Also acts as a transcription regulator that binds to promoter regions. Regulates expression of a small subset of genes, including MTFP1. Location: Nucleus; Chromosome, telomere (UniProt). Locus 1p36.31 (HGNC).","whereFound":["Angiosarcoma: IntOGen driver in 1 cohort (ANGS)"],"targetClass":"oncogene","prevalence":[]},{"id":"zbtb7b","kind":"target","name":"ZBTB7B","aka":["zinc finger and BTB domain containing 7B","Zinc finger and BTB domain-containing protein 7B","ZBTB15","c-Krox","hcKrox","ZNF857B","vGAF","ThPOK","ZFP67"],"tldr":"ZBTB7B (Zinc finger and BTB domain-containing protein 7B) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Uterine carcinosarcoma.","summary":"Transcription regulator that acts as a key regulator of lineage commitment of immature T-cell precursors. Exerts distinct biological functions in the mammary epithelial cells and T cells in a tissue-specific manner. Necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumour.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18668","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18668"},{"label":"UniProt O15156","url":"https://www.uniprot.org/uniprotkb/O15156/entry"},{"label":"NCBI Gene 51043","url":"https://www.ncbi.nlm.nih.gov/gene/51043"},{"label":"Ensembl ENSG00000160685","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160685"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["uterine-carcinosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZBTB7B","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18668","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18668","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15156","url":"https://www.uniprot.org/uniprotkb/O15156/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZBTB7B","url":"https://www.intogen.org/search?gene=ZBTB7B","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18668","ensembl":"ENSG00000160685","uniprot":"O15156","entrez":"51043","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Widom R.L. et al, Gene, 1997, \"Cloning and characterization of hcKrox, a transcriptional regulator of extracellular matrix gene expression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9370309/","biology":"Transcription regulator that acts as a key regulator of lineage commitment of immature T-cell precursors. Exerts distinct biological functions in the mammary epithelial cells and T cells in a tissue-specific manner. Necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. Development of immature T-cell precursors (thymocytes) to either the CD4 helper or CD8 killer T-cell lineages correlates precisely with their T-cell receptor specificity for major histocompatibility complex class II or class I molecules, respectively. Cross-antagonism between ZBTB7B and CBF complexes are determinative to CD4 versus CD8 cell fate decision. Suppresses RUNX3 expression and imposes CD4+ lineage fate by inducing the SOCS suppressors of cytokine signalling. induces, as a transcriptional activator, SOCS genes expression which represses RUNX3 expression and promotes the CD4+ lineage fate. Location: Nucleus (UniProt). Locus 1q21.3 (HGNC).","whereFound":["Uterine carcinosarcoma: IntOGen driver in 1 cohort (UCS)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"zc3hav1","kind":"target","name":"ZC3HAV1","aka":["zinc finger CCCH-type containing, antiviral 1","Zinc finger CCCH-type antiviral protein 1","FLB6421","FLJ13288","MGC48898","ZC3HDC2","ZC3H2","PARP13","ARTD13"],"tldr":"ZC3HAV1 (Zinc finger CCCH-type antiviral protein 1) is a gene. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Antiviral protein which inhibits the replication of viruses by recruiting the cellular RNA degradation machineries to degrade the viral mRNAs. Binds to a ZAP-responsive element (ZRE) present in the target viral mRNA, recruits cellular poly(A)-specific ribonuclease PARN to remove the poly(A) tail, and the 3'-5' exoribonuclease complex exosome to degrade the RNA body from the 3'-end. It also recruits the decapping complex DCP1-DCP2 through RNA helicase p72 (DDX17) to remove the cap structure of the viral mRNA to initiate its degradation from the 5'-end.\n\nOpen Targets scores its association with cancer at 0.56 (direct and indirect evidence; datatypes literature 0.64, affected pathway 0.89, genetic association 0.00).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23721","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23721"},{"label":"UniProt Q7Z2W4","url":"https://www.uniprot.org/uniprotkb/Q7Z2W4/entry"},{"label":"NCBI Gene 56829","url":"https://www.ncbi.nlm.nih.gov/gene/56829"},{"label":"Ensembl ENSG00000105939","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000105939"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZC3HAV1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:23721","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23721","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q7Z2W4","url":"https://www.uniprot.org/uniprotkb/Q7Z2W4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000105939","url":"https://platform.opentargets.org/target/ENSG00000105939/associations","note":"association with cancer (MONDO_0004992) 0.56;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:23721","ensembl":"ENSG00000105939","uniprot":"Q7Z2W4","entrez":"56829","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, 1999, \"Functional prediction of the coding sequences of 5 new genes deduced by analysis of cDNA clones from human fetal liver\".","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q7Z2W4/entry","biology":"Antiviral protein which inhibits the replication of viruses by recruiting the cellular RNA degradation machineries to degrade the viral mRNAs. Binds to a ZAP-responsive element (ZRE) present in the target viral mRNA, recruits cellular poly(A)-specific ribonuclease PARN to remove the poly(A) tail, and the 3'-5' exoribonuclease complex exosome to degrade the RNA body from the 3'-end. It also recruits the decapping complex DCP1-DCP2 through RNA helicase p72 (DDX17) to remove the cap structure of the viral mRNA to initiate its degradation from the 5'-end. Its target viruses belong to families which include retroviridae, including human immunodeficiency virus type 1, filoviridae: ebola virus (EBOV) and marburg virus (MARV), togaviridae: sindbis virus (SINV) and Ross river virus (RRV). Specifically targets the multiply spliced but not unspliced or singly spliced HIV-1 mRNAs for degradation. Exhibits stronger antiviral activity than isoform 2 against MuLV expression and Semliki forest virus infection. Location: Nucleus; Lysosome; Late endosome; Cytoplasm (UniProt). Locus 7q34 (HGNC).","whereFound":[],"targetClass":"other","prevalence":[]},{"id":"zcchc8","kind":"target","name":"ZCCHC8","aka":["zinc finger CCHC-type containing 8","Zinc finger CCHC domain-containing protein 8","DKFZp434E2220"],"tldr":"ZCCHC8 (Zinc finger CCHC domain-containing protein 8) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"Scaffolding subunit of the trimeric nuclear exosome targeting (NEXT) complex that is involved in the surveillance and turnover of aberrant transcripts and non-coding RNAs. NEXT functions as an RNA exosome cofactor that directs a subset of non-coding short-lived RNAs for exosomal degradation. May be involved in pre-mRNA splicing.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25265","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25265"},{"label":"UniProt Q6NZY4","url":"https://www.uniprot.org/uniprotkb/Q6NZY4/entry"},{"label":"NCBI Gene 55596","url":"https://www.ncbi.nlm.nih.gov/gene/55596"},{"label":"Ensembl ENSG00000033030","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000033030"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZCCHC8","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:25265","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25265","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q6NZY4","url":"https://www.uniprot.org/uniprotkb/Q6NZY4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZCCHC8","url":"https://www.intogen.org/search?gene=ZCCHC8","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:25265","ensembl":"ENSG00000033030","uniprot":"Q6NZY4","entrez":"55596","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Scaffolding subunit of the trimeric nuclear exosome targeting (NEXT) complex that is involved in the surveillance and turnover of aberrant transcripts and non-coding RNAs. NEXT functions as an RNA exosome cofactor that directs a subset of non-coding short-lived RNAs for exosomal degradation. May be involved in pre-mRNA splicing. It is required for 3'-end maturation of telomerase RNA component (TERC), TERC 3'-end targeting to the nuclear RNA exosome, and for telomerase function. Location: Nucleus, nucleoplasm; Nucleus (UniProt). Locus 12q24.31 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"zcrb1","kind":"target","name":"ZCRB1","aka":["zinc finger CCHC-type and RNA binding motif containing 1","Zinc finger CCHC-type and RNA-binding motif-containing protein 1","MADP-1","MADP1","RBM36","ZCCHC19","SNRNP31"],"tldr":"ZCRB1 (Zinc finger CCHC-type and RNA-binding motif-containing protein 1) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Acute myeloid leukaemia.","summary":"UniProt has no function text for Q8TBF4; HGNC names it \"zinc finger CCHC-type and RNA binding motif containing 1\".\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29620","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29620"},{"label":"UniProt Q8TBF4","url":"https://www.uniprot.org/uniprotkb/Q8TBF4/entry"},{"label":"NCBI Gene 85437","url":"https://www.ncbi.nlm.nih.gov/gene/85437"},{"label":"Ensembl ENSG00000139168","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139168"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZCRB1","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:29620","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29620","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8TBF4","url":"https://www.uniprot.org/uniprotkb/Q8TBF4/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZCRB1","url":"https://www.intogen.org/search?gene=ZCRB1","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:29620","ensembl":"ENSG00000139168","uniprot":"Q8TBF4","entrez":"85437","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Genome Res, 2004, \"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15489334/","biology":"UniProt has no function text for Q8TBF4; HGNC names it \"zinc finger CCHC-type and RNA binding motif containing 1\". Location: Nucleus, nucleoplasm (UniProt). Locus 12q12 (HGNC).","whereFound":["Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"oncogene","prevalence":[]},{"id":"zeb1","kind":"target","name":"ZEB1","aka":["zinc finger E-box binding homeobox 1","Zinc finger E-box-binding homeobox 1","AREB6","NIL-2-A","Zfhep","Zfhx1a","FECD6","TCF8","PPCD3"],"tldr":"ZEB1 (Zinc finger E-box-binding homeobox 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer, Nasopharyngeal carcinoma, Multiple myeloma and 4 more.","summary":"Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 3 variants, naming Doxorubicin, Salinomycin, Gemcitabine and Cytarabine and others. IntOGen calls it a driver in 6 cohorts (5 activating, 1 loss-of-function), covering Glioblastoma Multiforme, Lung Adenocarcinoma, Lung Squamous Cell Carcinoma, Nasopharyngeal Carcinoma, Plasma Cell Myeloma, Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11642","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11642"},{"label":"UniProt P37275","url":"https://www.uniprot.org/uniprotkb/P37275/entry"},{"label":"NCBI Gene 6935","url":"https://www.ncbi.nlm.nih.gov/gene/6935"},{"label":"Ensembl ENSG00000148516","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148516"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["colorectal","nasopharyngeal","multiple-myeloma","mantle-cell-lymphoma","nsclc","glioblastoma","sclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["emt","invasion-ecm-degradation"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 7 therapies; IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 9 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZEB1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11642","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11642","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P37275","url":"https://www.uniprot.org/uniprotkb/P37275/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZEB1","url":"https://civicdb.org/features/5649","note":"9 evidence items, 0 assertions, 3 variants; diseases: Mantle Cell Lymphoma, Colon Cancer, Cancer (GraphQL API, CC0)"},{"label":"IntOGen ZEB1","url":"https://www.intogen.org/search?gene=ZEB1","note":"driver in 6 cohorts (Act 5, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ZEB1: RNA low tissue specificity; high antibody staining in 12 normal tissues; highest cancer staining glioma (6 of 12 high). Distribution: 6 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Nasopharyngeal carcinoma, Multiple myeloma, Lymphoma, Lung cancer (all types), Brain and spinal cord tumours (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P37275","url":"https://www.uniprot.org/uniprotkb/P37275/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZEB1","url":"https://civicdb.org/features/5649","note":"9 evidence items, 0 assertions, 3 variants; diseases: Mantle Cell Lymphoma, Colon Cancer, Cancer (GraphQL API, CC0)"},{"label":"IntOGen ZEB1","url":"https://www.intogen.org/search?gene=ZEB1","note":"driver in 6 cohorts (Act 5, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ZEB1 tissue","url":"https://www.proteinatlas.org/ENSG00000148516-ZEB1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000148516 associations","url":"https://platform.opentargets.org/target/ENSG00000148516/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11642","ensembl":"ENSG00000148516","uniprot":"P37275","entrez":"6935","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Williams T.M. et al, Science, 1991, \"Identification of a zinc finger protein that inhibits IL-2 gene expression\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1840704/","biology":"Acts as a transcriptional repressor. Inhibits interleukin-2 (IL-2) gene expression. Enhances or represses the promoter activity of the ATP1A1 gene depending on the quantity of cDNA and on the cell type. Represses E-cadherin promoter and induces an epithelial-mesenchymal transition (EMT) by recruiting SMARCA4/BRG1. Represses BCL6 transcription in the presence of the corepressor CTBP1. Positively regulates neuronal differentiation. Location: Nucleus (UniProt). Locus 10p11.22 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Multiple myeloma: IntOGen driver in 1 cohort (PCM)","Mantle cell lymphoma: CIViC evidence names this disease","Non-small-cell lung cancer: IntOGen driver in 2 cohorts (LUAD, LUSC)","Glioma & glioblastoma: IntOGen driver in 1 cohort (GBM)"],"targetClass":"transcription","prevalence":[]},{"id":"zfhx3","kind":"target","name":"ZFHX3","aka":["zinc finger homeobox 3","Zinc finger homeobox protein 3","ZNF927","FLJ26184","ATBF1","C16orf47"],"tldr":"ZFHX3 (Zinc finger homeobox protein 3) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Endometrial cancer, Breast cancer and 5 more.","summary":"Transcriptional regulator which can act as an activator or a repressor. Inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. In concert with SMAD-dependent TGF-beta signalling can repress the transcription of AFP via its interaction with SMAD2/3.\n\nOpen Targets scores its association with cancer at 0.81 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.67, somatic mutation 0.92). IntOGen calls it a driver in 17 cohorts (4 activating, 13 loss-of-function), covering Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Diffuse Large B-Cell Lymphoma, NOS, Hepatocellular Carcinoma, Osteosarcoma, Plasma Cell Myeloma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:777","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:777"},{"label":"UniProt Q15911","url":"https://www.uniprot.org/uniprotkb/Q15911/entry"},{"label":"NCBI Gene 463","url":"https://www.ncbi.nlm.nih.gov/gene/463"},{"label":"Ensembl ENSG00000140836","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140836"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","endometrial","breast-cancer","thyroid","hcc","urothelial","multiple-myeloma","vulvar"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 4 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 13 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZFHX3","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:777","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:777","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15911","url":"https://www.uniprot.org/uniprotkb/Q15911/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000140836","url":"https://platform.opentargets.org/target/ENSG00000140836/associations","note":"association with cancer (MONDO_0004992) 0.81; per-cancer scores at or above 0.5: colorectal cancer 0.53, gastric cancer 0.51, prostate cancer 0.67, endometrial cancer 0.59, melanoma 0.52, thyroid cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen ZFHX3","url":"https://www.intogen.org/search?gene=ZFHX3","note":"driver in 17 cohorts (Act 4, LoF 13); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:777","ensembl":"ENSG00000140836","uniprot":"Q15911","entrez":"463","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Morinaga et al, Mol. Cell. Biol, 1991, \"A human alpha-fetoprotein enhancer-binding protein, ATBF1, contains four homeodomains and seventeen zinc fingers\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1719379/","biology":"Transcriptional regulator which can act as an activator or a repressor. Inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. In concert with SMAD-dependent TGF-beta signalling can repress the transcription of AFP via its interaction with SMAD2/3. Regulates the circadian locomotor rhythms via transcriptional activation of neuropeptidergic genes which are essential for intercellular synchrony and rhythm amplitude in the suprachiasmatic nucleus (SCN) of the brain. Regulator of myoblasts differentiation through the binding to the AT-rich sequence of MYF6 promoter and promoter repression. Down-regulates the MUC5AC promoter in gastric cancer. Location: Nucleus; Cytoplasm (UniProt). Locus 16q22.2-q22.3 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.67 with prostate cancer (MONDO_0008315); IntOGen driver in 3 cohorts (PRAD)","Endometrial cancer: Open Targets association 0.59 with endometrial cancer (MONDO_0011962); IntOGen driver in 3 cohorts (UCEC)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254); IntOGen driver in 2 cohorts (BRCA)","Thyroid cancer: Open Targets association 0.50 with thyroid cancer (MONDO_0002108); IntOGen driver in 2 cohorts (WDTC)","Hepatocellular carcinoma: IntOGen driver in 2 cohorts (HCC)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"transcription","prevalence":[]},{"id":"zfhx4","kind":"target","name":"ZFHX4","aka":["zinc finger homeobox 4","Zinc finger homeobox protein 4","ZFH4","FLJ20980"],"tldr":"ZFHX4 (Zinc finger homeobox protein 4) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role.","summary":"May play a role in neural and muscle differentiation. May be involved in transcriptional regulation.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.92, animal model 0.43, genetic association 0.63).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30939","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30939"},{"label":"UniProt Q86UP3","url":"https://www.uniprot.org/uniprotkb/Q86UP3/entry"},{"label":"NCBI Gene 79776","url":"https://www.ncbi.nlm.nih.gov/gene/79776"},{"label":"Ensembl ENSG00000091656","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000091656"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZFHX4","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:30939","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30939","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86UP3","url":"https://www.uniprot.org/uniprotkb/Q86UP3/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000091656","url":"https://platform.opentargets.org/target/ENSG00000091656/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:30939","ensembl":"ENSG00000091656","uniprot":"Q86UP3","entrez":"79776","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Shan Y.X. et al, 2003.","firstDescribedSource":"https://www.uniprot.org/uniprotkb/Q86UP3/entry","biology":"May play a role in neural and muscle differentiation. May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 8q21.13 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"zfp36l1","kind":"target","name":"ZFP36L1","aka":["ZFP36 like 1 zinc finger CCCH-type","mRNA decay activator protein ZFP36L1","Berg36","ERF1","TIS11B","cMG1","BRF1"],"tldr":"ZFP36L1 (mRNA decay activator protein ZFP36L1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Bladder & urothelial cancer, Non-Hodgkin lymphoma and Diffuse large B-cell lymphoma.","summary":"Zinc-finger RNA-binding protein that destabilises several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signalling events to the mRNA decay machinery. Functions by recruiting the CCR4-NOT deadenylase complex and components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.90, affected pathway 0.31, genetic association 0.55, somatic mutation 0.48). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Bladder Urothelial Carcinoma, Malignant Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1107","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1107"},{"label":"UniProt Q07352","url":"https://www.uniprot.org/uniprotkb/Q07352/entry"},{"label":"NCBI Gene 677","url":"https://www.ncbi.nlm.nih.gov/gene/677"},{"label":"Ensembl ENSG00000185650","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185650"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["urothelial","non-hodgkin-lymphoma","dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZFP36L1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:1107","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1107","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q07352","url":"https://www.uniprot.org/uniprotkb/Q07352/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZFP36L1","url":"https://civicdb.org/features/625","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000185650","url":"https://platform.opentargets.org/target/ENSG00000185650/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"},{"label":"IntOGen ZFP36L1","url":"https://www.intogen.org/search?gene=ZFP36L1","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ZFP36L1: RNA low tissue specificity; blood lineage lineage enriched (granulocytes 2,922 nTPM); no normal tissue stained high; highest cancer staining cervical cancer (2 of 12 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Bladder & urothelial cancer, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (breast carcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q07352","url":"https://www.uniprot.org/uniprotkb/Q07352/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZFP36L1","url":"https://civicdb.org/features/625","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen ZFP36L1","url":"https://www.intogen.org/search?gene=ZFP36L1","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ZFP36L1 tissue","url":"https://www.proteinatlas.org/ENSG00000185650-ZFP36L1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000185650 associations","url":"https://platform.opentargets.org/target/ENSG00000185650/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:1107","ensembl":"ENSG00000185650","uniprot":"Q07352","entrez":"677","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Barnard R.C. et al, Nucleic Acids Res, 1993, \"Coding sequence of ERF-1, the human homologue of Tis11b/cMG1, members of the Tis11 family of early response genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8346037/","biology":"Zinc-finger RNA-binding protein that destabilises several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signalling events to the mRNA decay machinery. Functions by recruiting the CCR4-NOT deadenylase complex and components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes. Also induces the degradation of ARE-containing mRNAs even in absence of poly(A) tail. Binds to 3'-UTR ARE of numerous mRNAs. Positively regulates early adipogenesis by promoting ARE-mediated mRNA decay of immediate early genes (IEGs). Location: Nucleus; Cytoplasm; Cytoplasmic granule; Cytoplasm, P-body (UniProt). Locus 14q24.1 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (MLYM)","Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"zfpm2","kind":"target","name":"ZFPM2","aka":["zinc finger protein, FOG family member 2","Zinc finger protein ZFPM2","PRDM19","FOG2","hFOG-2","ZNF89B"],"tldr":"ZFPM2 (Zinc finger protein ZFPM2) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer.","summary":"Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.98, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16700"},{"label":"UniProt Q8WW38","url":"https://www.uniprot.org/uniprotkb/Q8WW38/entry"},{"label":"NCBI Gene 23414","url":"https://www.ncbi.nlm.nih.gov/gene/23414"},{"label":"Ensembl ENSG00000169946","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169946"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZFPM2","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16700","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16700","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8WW38","url":"https://www.uniprot.org/uniprotkb/Q8WW38/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000169946","url":"https://platform.opentargets.org/target/ENSG00000169946/associations","note":"association with cancer (MONDO_0004992) 0.53; per-cancer scores at or above 0.5: breast cancer 0.51 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16700","ensembl":"ENSG00000169946","uniprot":"Q8WW38","entrez":"23414","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Holmes et al, J. Biol. Chem, 1999, \"hFOG-2, a novel zinc finger protein, binds the co-repressor mCtBP2 and modulates GATA-mediated activation\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10438528/","biology":"Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA4, GATA5 and GATA6. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. Also required in gonadal differentiation, possibly be regulating expression of SRY. Probably acts a corepressor of NR2F2. Location: Nucleus (UniProt). Locus 8q23 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.51 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},{"id":"zhx2","kind":"target","name":"ZHX2","aka":["zinc fingers and homeoboxes 2","Zinc fingers and homeoboxes protein 2","KIAA0854"],"tldr":"ZHX2 (Zinc fingers and homeoboxes protein 2) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Papillary renal cell carcinoma.","summary":"Acts as a transcriptional repressor. Represses the promoter activity of the CDC25C gene stimulated by NFYA. May play a role in retinal development where it regulates the composition of bipolar cell populations, by promoting differentiation of bipolar OFF-type cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Sorafenib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18513","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18513"},{"label":"UniProt Q9Y6X8","url":"https://www.uniprot.org/uniprotkb/Q9Y6X8/entry"},{"label":"NCBI Gene 22882","url":"https://www.ncbi.nlm.nih.gov/gene/22882"},{"label":"Ensembl ENSG00000178764","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000178764"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["papillary-rcc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZHX2","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18513","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18513","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9Y6X8","url":"https://www.uniprot.org/uniprotkb/Q9Y6X8/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZHX2","url":"https://civicdb.org/features/9121","note":"1 evidence items, 0 assertions, 1 variants; diseases: Papillary Renal Cell Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ZHX2: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining lymphoma (7 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Renal cell carcinoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ZHX2 tissue","url":"https://www.proteinatlas.org/ENSG00000178764-ZHX2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000178764 associations","url":"https://platform.opentargets.org/target/ENSG00000178764/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18513","ensembl":"ENSG00000178764","uniprot":"Q9Y6X8","entrez":"22882","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10048485/","biology":"Acts as a transcriptional repressor. Represses the promoter activity of the CDC25C gene stimulated by NFYA. May play a role in retinal development where it regulates the composition of bipolar cell populations, by promoting differentiation of bipolar OFF-type cells. In the brain, may promote maintenance and suppress differentiation of neural progenitor cells in the developing cortex. Location: Nucleus (UniProt). Locus 8q24.13 (HGNC).","whereFound":["Papillary renal cell carcinoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"zmiz1","kind":"target","name":"ZMIZ1","aka":["zinc finger MIZ-type containing 1","Zinc finger MIZ domain-containing protein 1","RP11-519K18.1","KIAA1224","FLJ13541","hZIMP10","Zimp10","RAI17"],"tldr":"ZMIZ1 (Zinc finger MIZ domain-containing protein 1) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Breast cancer, Prostate cancer and Colorectal cancer.","summary":"Acts as a transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation.\n\nOpen Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.73).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:16493","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16493"},{"label":"UniProt Q9ULJ6","url":"https://www.uniprot.org/uniprotkb/Q9ULJ6/entry"},{"label":"NCBI Gene 57178","url":"https://www.ncbi.nlm.nih.gov/gene/57178"},{"label":"Ensembl ENSG00000108175","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000108175"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["breast-cancer","prostate","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZMIZ1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:16493","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:16493","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9ULJ6","url":"https://www.uniprot.org/uniprotkb/Q9ULJ6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000108175","url":"https://platform.opentargets.org/target/ENSG00000108175/associations","note":"association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: colorectal cancer 0.55, prostate cancer 0.55, breast cancer 0.56 (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:16493","ensembl":"ENSG00000108175","uniprot":"Q9ULJ6","entrez":"57178","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10574462/","biology":"Acts as a transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation. Also functions as a transcriptional coactivator in the TGF-beta signalling pathway by increasing the activity of the SMAD3/SMAD4 transcriptional complex. Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development. Location: Nucleus, nucleoplasm; Cytoplasm; Nucleus (UniProt). Locus 10q22.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)","Prostate cancer: Open Targets association 0.55 with prostate cancer (MONDO_0008315)","Colorectal cancer: Open Targets association 0.55 with colorectal cancer (MONDO_0005575)"],"targetClass":"transcription","prevalence":[]},{"id":"zmym2","kind":"target","name":"ZMYM2","aka":["zinc finger MYM-type containing 2","Zinc finger MYM-type protein 2","ZNF198"],"tldr":"ZMYM2 (Zinc finger MYM-type protein 2) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Prostate cancer, Non-Hodgkin lymphoma and 1 more.","summary":"Involved in the negative regulation of transcription.\n\nOpen Targets scores its association with cancer at 0.70 (direct and indirect evidence; datatypes affected pathway 0.97, literature 0.65, genetic association 0.28, somatic mutation 0.43, animal model 0.41). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12989","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12989"},{"label":"UniProt Q9UBW7","url":"https://www.uniprot.org/uniprotkb/Q9UBW7/entry"},{"label":"NCBI Gene 7750","url":"https://www.ncbi.nlm.nih.gov/gene/7750"},{"label":"Ensembl ENSG00000121741","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000121741"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","prostate","non-hodgkin-lymphoma","all-leukemia"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZMYM2","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12989","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12989","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UBW7","url":"https://www.uniprot.org/uniprotkb/Q9UBW7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000121741","url":"https://platform.opentargets.org/target/ENSG00000121741/associations","note":"association with cancer (MONDO_0004992) 0.70; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.53, non-Hodgkin lymphoma 0.53, leukaemia 0.61 (GraphQL API, CC0)"},{"label":"IntOGen ZMYM2","url":"https://www.intogen.org/search?gene=ZMYM2","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12989","ensembl":"ENSG00000121741","uniprot":"Q9UBW7","entrez":"7750","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Popovici et al, Proc. Natl. Acad. Sci. U.S.A, 1998, \"Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)(p12;q12)\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9576949/","biology":"Involved in the negative regulation of transcription. Location: Nucleus (UniProt). Locus 13q12.11 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.61 with leukaemia (MONDO_0005059)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Non-Hodgkin lymphoma: Open Targets association 0.53 with non-Hodgkin lymphoma (MONDO_0018908)","Acute lymphoblastic leukaemia: Open Targets association 0.53 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"oncogene","prevalence":[]},{"id":"zmym3","kind":"target","name":"ZMYM3","aka":["zinc finger MYM-type containing 3","Zinc finger MYM-type protein 3","ZNF198L2","DXS6673E","KIAA0385","ZNF261"],"tldr":"ZMYM3 (Zinc finger MYM-type protein 3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Prostate cancer, Breast cancer, Head and neck squamous cell carcinoma and 4 more.","summary":"Required for regulation of cell morphology and cytoskeletal organisation.\n\nOpen Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.78, genetic association 0.00, somatic mutation 0.79). IntOGen calls it a driver in 15 cohorts (6 activating, 9 loss-of-function), covering Invasive Breast Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Head and Neck Squamous Cell Carcinoma, Lung Adenocarcinoma, Medulloblastoma, Prostate Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13054","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13054"},{"label":"UniProt Q14202","url":"https://www.uniprot.org/uniprotkb/Q14202/entry"},{"label":"NCBI Gene 9203","url":"https://www.ncbi.nlm.nih.gov/gene/9203"},{"label":"Ensembl ENSG00000147130","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000147130"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["prostate","breast-cancer","head-and-neck","cll","medulloblastoma","nsclc","thymoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 6 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 9 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZMYM3","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:13054","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13054","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q14202","url":"https://www.uniprot.org/uniprotkb/Q14202/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000147130","url":"https://platform.opentargets.org/target/ENSG00000147130/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: prostate cancer 0.57 (GraphQL API, CC0)"},{"label":"IntOGen ZMYM3","url":"https://www.intogen.org/search?gene=ZMYM3","note":"driver in 15 cohorts (Act 6, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:13054","ensembl":"ENSG00000147130","uniprot":"Q14202","entrez":"9203","firstDescribed":1996,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: van der Maarel S.M. et al, Hum. Mol. Genet, 1996, \"Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8817323/","biology":"Required for regulation of cell morphology and cytoskeletal organisation. Location: Nucleus (UniProt). Locus Xq13.1 (HGNC).","whereFound":["Prostate cancer: Open Targets association 0.57 with prostate cancer (MONDO_0008315); IntOGen driver in 7 cohorts (PRAD, PROSTATE)","Breast cancer: IntOGen driver in 1 cohort (BRCA)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Chronic lymphocytic leukaemia: IntOGen driver in 2 cohorts (CLLSLL)","Medulloblastoma: IntOGen driver in 2 cohorts (MBL)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUAD)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"znf208","kind":"target","name":"ZNF208","aka":["zinc finger protein 208","Zinc finger protein 208","PMIDP","ZNF95"],"tldr":"ZNF208 (Zinc finger protein 208) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Oesophageal cancer and Oesophageal and junctional adenocarcinoma.","summary":"May be involved in transcriptional regulation.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Oesophageal Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12999","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12999"},{"label":"UniProt O43345","url":"https://www.uniprot.org/uniprotkb/O43345/entry"},{"label":"NCBI Gene 7757","url":"https://www.ncbi.nlm.nih.gov/gene/7757"},{"label":"Ensembl ENSG00000160321","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160321"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["esophageal","oesophageal-adenocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF208","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:12999","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12999","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43345","url":"https://www.uniprot.org/uniprotkb/O43345/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF208","url":"https://www.intogen.org/search?gene=ZNF208","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:12999","ensembl":"ENSG00000160321","uniprot":"O43345","entrez":"7757","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Eichler E.E. et al, Genome Res, 1998, \"Complex beta-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9724325/","biology":"May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 19p12 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 1 cohort (ESCA)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf217","kind":"target","name":"ZNF217","aka":["zinc finger protein 217","Zinc finger protein 217","ZABC1"],"tldr":"ZNF217 (Zinc finger protein 217) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer, Ovarian cancer and Osteosarcoma.","summary":"Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonises cell death. Promotes phosphorylation of AKT1 at 'Ser-473'.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 2 variants, naming Triciribine. Open Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.97, genetic association 0.66).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13009","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13009"},{"label":"UniProt O75362","url":"https://www.uniprot.org/uniprotkb/O75362/entry"},{"label":"NCBI Gene 7764","url":"https://www.ncbi.nlm.nih.gov/gene/7764"},{"label":"Ensembl ENSG00000171940","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171940"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["breast-cancer","ovarian","osteosarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 1 therapies; CIViC holds 4 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF217","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13009","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13009","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75362","url":"https://www.uniprot.org/uniprotkb/O75362/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZNF217","url":"https://civicdb.org/features/6281","note":"4 evidence items, 0 assertions, 2 variants; diseases: Breast Cancer, Ovarian Cancer, Osteosarcoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000171940","url":"https://platform.opentargets.org/target/ENSG00000171940/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"few-types","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ZNF217: RNA low tissue specificity; high antibody staining in 13 normal tissues; highest cancer staining carcinoid (2 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Ovarian cancer, Sarcomas (soft tissue, bone, GIST)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ZNF217 tissue","url":"https://www.proteinatlas.org/ENSG00000171940-ZNF217/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000171940 associations","url":"https://platform.opentargets.org/target/ENSG00000171940/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:13009","ensembl":"ENSG00000171940","uniprot":"O75362","entrez":"7764","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Collins et al, Proc. Natl. Acad. Sci. U.S.A, 1998, \"Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9671742/","biology":"Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonises cell death. Promotes phosphorylation of AKT1 at 'Ser-473'. Location: Nucleus (UniProt). Locus 20q13.2 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease","Ovarian cancer: CIViC evidence names this disease","Osteosarcoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"znf274","kind":"target","name":"ZNF274","aka":["zinc finger protein 274","Neurotrophin receptor-interacting factor homolog","ZKSCAN19","ZSCAN51"],"tldr":"ZNF274 (Neurotrophin receptor-interacting factor homolog) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Medulloblastoma.","summary":"Probable transcription repressor. Specifically binds to the 3'-end of zinc-finger coding genes and recruiting chromatin-modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Medulloblastoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13068","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13068"},{"label":"UniProt Q96GC6","url":"https://www.uniprot.org/uniprotkb/Q96GC6/entry"},{"label":"NCBI Gene 10782","url":"https://www.ncbi.nlm.nih.gov/gene/10782"},{"label":"Ensembl ENSG00000171606","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171606"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["medulloblastoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF274","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:13068","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13068","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96GC6","url":"https://www.uniprot.org/uniprotkb/Q96GC6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF274","url":"https://www.intogen.org/search?gene=ZNF274","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:13068","ensembl":"ENSG00000171606","uniprot":"Q96GC6","entrez":"10782","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Petroni et al, DNA Seq, 1998, \"Computer sequence analysis of human highly conserved zinc finger modules\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10520746/","biology":"Probable transcription repressor. Specifically binds to the 3'-end of zinc-finger coding genes and recruiting chromatin-modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions. Location: Cytoplasm; Nucleus, nucleolus (UniProt). Locus 19q13.43 (HGNC).","whereFound":["Medulloblastoma: IntOGen driver in 1 cohort (MBL)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf292","kind":"target","name":"ZNF292","aka":["zinc finger protein 292","Zinc finger protein 292","KIAA0530","ZFP292","bA393I2.3","Zn-15","Zn-16"],"tldr":"ZNF292 (Zinc finger protein 292) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Diffuse large B-cell lymphoma.","summary":"May be involved in transcriptional regulation.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18410","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18410"},{"label":"UniProt O60281","url":"https://www.uniprot.org/uniprotkb/O60281/entry"},{"label":"NCBI Gene 23036","url":"https://www.ncbi.nlm.nih.gov/gene/23036"},{"label":"Ensembl ENSG00000188994","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000188994"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["dlbcl"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF292","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18410","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18410","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O60281","url":"https://www.uniprot.org/uniprotkb/O60281/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZNF292","url":"https://civicdb.org/features/9236","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ZNF292: RNA low tissue specificity; no normal tissue stained high; highest cancer staining colorectal cancer (1 of 10 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ZNF292 tissue","url":"https://www.proteinatlas.org/ENSG00000188994-ZNF292/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000188994 associations","url":"https://platform.opentargets.org/target/ENSG00000188994/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:18410","ensembl":"ENSG00000188994","uniprot":"O60281","entrez":"23036","firstDescribed":1998,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1998, \"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9628581/","biology":"May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 6q14.3 (HGNC).","whereFound":["Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"znf331","kind":"target","name":"ZNF331","aka":["zinc finger protein 331","Zinc finger protein 331","ZNF463","ZNF361"],"tldr":"ZNF331 (Zinc finger protein 331) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Nasopharyngeal carcinoma, Skin cancer and Melanoma.","summary":"May be involved in transcriptional regulation. May play a role in spermatogenesis.\n\nOpen Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.85, genetic association 0.14, somatic mutation 0.97). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Nasopharyngeal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:15489","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15489"},{"label":"UniProt Q9NQX6","url":"https://www.uniprot.org/uniprotkb/Q9NQX6/entry"},{"label":"NCBI Gene 55422","url":"https://www.ncbi.nlm.nih.gov/gene/55422"},{"label":"Ensembl ENSG00000130844","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000130844"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["nasopharyngeal","skin-cancer","melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF331","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:15489","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15489","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9NQX6","url":"https://www.uniprot.org/uniprotkb/Q9NQX6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000130844","url":"https://platform.opentargets.org/target/ENSG00000130844/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: melanoma 0.51, skin cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen ZNF331","url":"https://www.intogen.org/search?gene=ZNF331","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:15489","ensembl":"ENSG00000130844","uniprot":"Q9NQX6","entrez":"55422","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Rippe et al, Genes Chromosomes Cancer, 1999, \"A KRAB zinc finger protein gene is the potential target of 19q13 translocation in benign thyroid tumors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10502321/","biology":"May be involved in transcriptional regulation. May play a role in spermatogenesis. Location: Nucleus (UniProt). Locus 19q13.42 (HGNC).","whereFound":["Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Melanoma: Open Targets association 0.51 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf395","kind":"target","name":"ZNF395","aka":["zinc finger protein 395","Zinc finger protein 395","PRF-1","HDBP2","DKFZp434K1210"],"tldr":"ZNF395 (Zinc finger protein 395) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Non-small-cell lung cancer.","summary":"Plays a role in papillomavirus genes transcription.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Non-Small Cell Lung Cancer.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18737","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18737"},{"label":"UniProt Q9H8N7","url":"https://www.uniprot.org/uniprotkb/Q9H8N7/entry"},{"label":"NCBI Gene 55893","url":"https://www.ncbi.nlm.nih.gov/gene/55893"},{"label":"Ensembl ENSG00000186918","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000186918"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF395","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18737","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18737","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H8N7","url":"https://www.uniprot.org/uniprotkb/Q9H8N7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF395","url":"https://www.intogen.org/search?gene=ZNF395","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18737","ensembl":"ENSG00000186918","uniprot":"Q9H8N7","entrez":"55893","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Boeckle et al, Virology, 2002, \"A new cellular factor recognizes E2 binding sites of papillomaviruses which mediate transcriptional repression by E2\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11853404/","biology":"Plays a role in papillomavirus genes transcription. Location: Cytoplasm; Nucleus (UniProt). Locus 8p21.1 (HGNC).","whereFound":["Non-small-cell lung cancer: IntOGen driver in 1 cohort (NSCLC)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf429","kind":"target","name":"ZNF429","aka":["zinc finger protein 429","Zinc finger protein 429"],"tldr":"ZNF429 (Zinc finger protein 429) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver and a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Hepatocellular carcinoma, Prostate cancer and 1 more.","summary":"May be involved in transcriptional regulation.\n\nOpen Targets scores its association with cancer at 0.51 (direct and indirect evidence; datatypes literature 0.17, genetic association 0.00, somatic mutation 0.66). IntOGen calls it a driver in 4 cohorts (1 activating, 2 loss-of-function), covering Bladder Urothelial Carcinoma, Cholangiocarcinoma, Hepatocellular Carcinoma, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:20817","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20817"},{"label":"UniProt Q86V71","url":"https://www.uniprot.org/uniprotkb/Q86V71/entry"},{"label":"NCBI Gene 353088","url":"https://www.ncbi.nlm.nih.gov/gene/353088"},{"label":"Ensembl ENSG00000197013","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197013"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","hcc","prostate","cholangiocarcinoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF429","role":["oncogene-driver","tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:20817","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20817","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q86V71","url":"https://www.uniprot.org/uniprotkb/Q86V71/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000197013","url":"https://platform.opentargets.org/target/ENSG00000197013/associations","note":"association with cancer (MONDO_0004992) 0.51;  (GraphQL API, CC0)"},{"label":"IntOGen ZNF429","url":"https://www.intogen.org/search?gene=ZNF429","note":"driver in 4 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:20817","ensembl":"ENSG00000197013","uniprot":"Q86V71","entrez":"353088","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Abrink et al, DNA Cell Biol, 1995, \"Isolation of cDNA clones for 42 different Kruppel-related zinc finger proteins expressed in the human monoblast cell line U-937\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7865130/","biology":"May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 19p12 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Biliary tract cancer: IntOGen driver in 1 cohort (CHOL)"],"targetClass":"transcription","prevalence":[]},{"id":"znf462","kind":"target","name":"ZNF462","aka":["zinc finger protein 462","Zinc finger protein 462","DKFZP762N2316","KIAA1803","Zfp462"],"tldr":"ZNF462 (Zinc finger protein 462) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role.","summary":"Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organisation. Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG. By binding PBX1, prevents the heterodimerisation of PBX1 and HOXA9 and their binding to DNA.\n\nOpen Targets scores its association with cancer at 0.59 (direct and indirect evidence; datatypes literature 0.17, animal model 0.34, genetic association 0.77).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:21684","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21684"},{"label":"UniProt Q96JM2","url":"https://www.uniprot.org/uniprotkb/Q96JM2/entry"},{"label":"NCBI Gene 58499","url":"https://www.ncbi.nlm.nih.gov/gene/58499"},{"label":"Ensembl ENSG00000148143","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000148143"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: none stated by the sources. Evidence tier \"association-only\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF462","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:21684","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21684","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96JM2","url":"https://www.uniprot.org/uniprotkb/Q96JM2/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000148143","url":"https://platform.opentargets.org/target/ENSG00000148143/associations","note":"association with cancer (MONDO_0004992) 0.59;  (GraphQL API, CC0)"}],"specificitySources":[],"hgnc":"HGNC:21684","ensembl":"ENSG00000148143","uniprot":"Q96JM2","entrez":"58499","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11347906/","biology":"Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organisation. Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG. By binding PBX1, prevents the heterodimerisation of PBX1 and HOXA9 and their binding to DNA. Regulates neuronal development and neural cell differentiation. Location: Nucleus (UniProt). Locus 9q31.2 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},{"id":"znf521","kind":"target","name":"ZNF521","aka":["zinc finger protein 521","Zinc finger protein 521","Evi3"],"tldr":"ZNF521 (Zinc finger protein 521) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Pancreatic ductal adenocarcinoma, Oesophageal cancer, Cervical cancer and 5 more.","summary":"Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signalling and in the regulation of the immature compartment of the haematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes.\n\nOpen Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.24, somatic mutation 0.87). IntOGen calls it a driver in 9 cohorts (5 activating, 4 loss-of-function), covering Cervical Adenocarcinoma, Cutaneous Squamous Cell Carcinoma, Oesophageal Adenocarcinoma, Hepatocellular Carcinoma, Lung Squamous Cell Carcinoma, Nasopharyngeal Carcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:24605","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24605"},{"label":"UniProt Q96K83","url":"https://www.uniprot.org/uniprotkb/Q96K83/entry"},{"label":"NCBI Gene 25925","url":"https://www.ncbi.nlm.nih.gov/gene/25925"},{"label":"Ensembl ENSG00000198795","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198795"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["pancreatic","esophageal","cervical","hcc","nasopharyngeal","ovarian","lung-cancer","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 5 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 4 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF521","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:24605","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24605","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q96K83","url":"https://www.uniprot.org/uniprotkb/Q96K83/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000198795","url":"https://platform.opentargets.org/target/ENSG00000198795/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: oesophageal cancer 0.51, skin cancer 0.55, breast cancer 0.54, lung cancer 0.56, biliary tract cancer 0.50 (GraphQL API, CC0)"},{"label":"IntOGen ZNF521","url":"https://www.intogen.org/search?gene=ZNF521","note":"driver in 9 cohorts (Act 5, LoF 4); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:24605","ensembl":"ENSG00000198795","uniprot":"Q96K83","entrez":"25925","firstDescribed":2002,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Tchernev V.T. et al, Mol. Med, 2002, \"The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11984006/","biology":"Transcription factor that can both act as an activator or a repressor depending on the context. Involved in BMP signalling and in the regulation of the immature compartment of the haematopoietic system. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved specification of B-cell lineage; this interaction preventing EBF1 to bind DNA and activate target genes. Location: Nucleus (UniProt). Locus 18q11.2 (HGNC).","whereFound":["Pancreatic ductal adenocarcinoma: IntOGen driver in 2 cohorts (PAAD, PANCREAS)","Oesophageal cancer: Open Targets association 0.51 with oesophageal cancer (MONDO_0007576); IntOGen driver in 1 cohort (ESCA)","Cervical cancer: IntOGen driver in 1 cohort (CEAD)","Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)"],"targetClass":"transcription","prevalence":[]},{"id":"znf626","kind":"target","name":"ZNF626","aka":["zinc finger protein 626","Zinc finger protein 626"],"tldr":"ZNF626 (Zinc finger protein 626) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Nasopharyngeal carcinoma.","summary":"May be involved in transcriptional regulation.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Nasopharyngeal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:30461","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30461"},{"label":"UniProt Q68DY1","url":"https://www.uniprot.org/uniprotkb/Q68DY1/entry"},{"label":"NCBI Gene 199777","url":"https://www.ncbi.nlm.nih.gov/gene/199777"},{"label":"Ensembl ENSG00000188171","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000188171"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nasopharyngeal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF626","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:30461","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:30461","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q68DY1","url":"https://www.uniprot.org/uniprotkb/Q68DY1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF626","url":"https://www.intogen.org/search?gene=ZNF626","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:30461","ensembl":"ENSG00000188171","uniprot":"Q68DY1","entrez":"199777","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 19p12 (HGNC).","whereFound":["Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf680","kind":"target","name":"ZNF680","aka":["zinc finger protein 680","Zinc finger protein 680","FLJ90430"],"tldr":"ZNF680 (Zinc finger protein 680) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Nasopharyngeal carcinoma.","summary":"May be involved in transcriptional regulation.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Nasopharyngeal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:26897","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26897"},{"label":"UniProt Q8NEM1","url":"https://www.uniprot.org/uniprotkb/Q8NEM1/entry"},{"label":"NCBI Gene 340252","url":"https://www.ncbi.nlm.nih.gov/gene/340252"},{"label":"Ensembl ENSG00000173041","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000173041"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nasopharyngeal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF680","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:26897","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:26897","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8NEM1","url":"https://www.uniprot.org/uniprotkb/Q8NEM1/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF680","url":"https://www.intogen.org/search?gene=ZNF680","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:26897","ensembl":"ENSG00000173041","uniprot":"Q8NEM1","entrez":"340252","firstDescribed":2003,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Hillier L.W. et al, Nature, 2003, \"The DNA sequence of human chromosome 7\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/12853948/","biology":"May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 7q11.21 (HGNC).","whereFound":["Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf703","kind":"target","name":"ZNF703","aka":["zinc finger protein 703","Zinc finger protein 703","FLJ14299","ZNF503L","NLZ1","Zpo1","ZEPPO1"],"tldr":"ZNF703 (Zinc finger protein 703) is a protein that switches other genes on and off. The public catalogues list it as a drug target and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Breast cancer.","summary":"Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters. Regulates cell adhesion, migration and proliferation. May be required for segmental gene expression during hindbrain development.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Letrozole and Ribociclib.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25883","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25883"},{"label":"UniProt Q9H7S9","url":"https://www.uniprot.org/uniprotkb/Q9H7S9/entry"},{"label":"NCBI Gene 80139","url":"https://www.ncbi.nlm.nih.gov/gene/80139"},{"label":"Ensembl ENSG00000183779","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183779"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC lists 2 therapies; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF703","role":["drug-target","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:25883","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25883","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H7S9","url":"https://www.uniprot.org/uniprotkb/Q9H7S9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZNF703","url":"https://civicdb.org/features/15283","note":"1 evidence items, 0 assertions, 1 variants; diseases: Breast Cancer (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the roles drug-target, biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA ZNF703: RNA tissue enhanced (skeletal muscle 105 nTPM); blood lineage lineage enriched (monocytes 4 nTPM); high antibody staining in 1 normal tissue; highest cancer staining breast cancer (5 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Breast cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas ZNF703 tissue","url":"https://www.proteinatlas.org/ENSG00000183779-ZNF703/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000183779 associations","url":"https://platform.opentargets.org/target/ENSG00000183779/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:25883","ensembl":"ENSG00000183779","uniprot":"Q9H7S9","entrez":"80139","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Transcriptional corepressor which does not bind directly to DNA and may regulate transcription through recruitment of histone deacetylases to gene promoters. Regulates cell adhesion, migration and proliferation. May be required for segmental gene expression during hindbrain development. Location: Nucleus; Cytoplasm (UniProt). Locus 8p11.23 (HGNC).","whereFound":["Breast cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},{"id":"znf721","kind":"target","name":"ZNF721","aka":["zinc finger protein 721","Zinc finger protein 721","KIAA1982"],"tldr":"ZNF721 (Zinc finger protein 721) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Nasopharyngeal carcinoma.","summary":"May be involved in transcriptional regulation.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Nasopharyngeal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29425","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29425"},{"label":"UniProt Q8TF20","url":"https://www.uniprot.org/uniprotkb/Q8TF20/entry"},{"label":"NCBI Gene 170960","url":"https://www.ncbi.nlm.nih.gov/gene/170960"},{"label":"Ensembl ENSG00000182903","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000182903"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nasopharyngeal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF721","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:29425","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29425","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8TF20","url":"https://www.uniprot.org/uniprotkb/Q8TF20/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF721","url":"https://www.intogen.org/search?gene=ZNF721","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:29425","ensembl":"ENSG00000182903","uniprot":"Q8TF20","entrez":"170960","firstDescribed":2001,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 2001, \"Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/11853319/","biology":"May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 4p16.3 (HGNC).","whereFound":["Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf750","kind":"target","name":"ZNF750","aka":["zinc finger protein 750","Zinc finger protein 750","FLJ13841","Zfp750"],"tldr":"ZNF750 (Zinc finger protein 750) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Oesophageal cancer, Oesophageal and junctional adenocarcinoma and Non-small-cell lung cancer.","summary":"Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression.\n\nOpen Targets scores its association with cancer at 0.53 (direct and indirect evidence; datatypes literature 0.96, animal model 0.39, genetic association 0.04, somatic mutation 0.81). IntOGen calls it a driver in 3 cohorts (0 activating, 3 loss-of-function), covering Oesophageal Adenocarcinoma, Lung Squamous Cell Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:25843","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25843"},{"label":"UniProt Q32MQ0","url":"https://www.uniprot.org/uniprotkb/Q32MQ0/entry"},{"label":"NCBI Gene 79755","url":"https://www.ncbi.nlm.nih.gov/gene/79755"},{"label":"Ensembl ENSG00000141579","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000141579"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["esophageal","oesophageal-adenocarcinoma","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF750","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:25843","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:25843","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q32MQ0","url":"https://www.uniprot.org/uniprotkb/Q32MQ0/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000141579","url":"https://platform.opentargets.org/target/ENSG00000141579/associations","note":"association with cancer (MONDO_0004992) 0.53;  (GraphQL API, CC0)"},{"label":"IntOGen ZNF750","url":"https://www.intogen.org/search?gene=ZNF750","note":"driver in 3 cohorts (Act 0, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:25843","ensembl":"ENSG00000141579","uniprot":"Q32MQ0","entrez":"79755","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression. Location: Nucleus (UniProt). Locus 17q25.3 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 2 cohorts (ESCA)","Oesophageal and junctional adenocarcinoma: IntOGen driver in 2 cohorts (ESCA)","Non-small-cell lung cancer: IntOGen driver in 1 cohort (LUSC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"znf780a","kind":"target","name":"ZNF780A","aka":["zinc finger protein 780A","Zinc finger protein 780A","ZNF780"],"tldr":"ZNF780A (Zinc finger protein 780A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Nasopharyngeal carcinoma.","summary":"May be involved in transcriptional regulation.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Nasopharyngeal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:27603","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27603"},{"label":"UniProt O75290","url":"https://www.uniprot.org/uniprotkb/O75290/entry"},{"label":"NCBI Gene 284323","url":"https://www.ncbi.nlm.nih.gov/gene/284323"},{"label":"Ensembl ENSG00000197782","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000197782"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nasopharyngeal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF780A","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:27603","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:27603","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75290","url":"https://www.uniprot.org/uniprotkb/O75290/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF780A","url":"https://www.intogen.org/search?gene=ZNF780A","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:27603","ensembl":"ENSG00000197782","uniprot":"O75290","entrez":"284323","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 19q13.2 (HGNC).","whereFound":["Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf814","kind":"target","name":"ZNF814","aka":["zinc finger protein 814","Zinc finger protein 814"],"tldr":"ZNF814 (Zinc finger protein 814) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Gastric & gastro-oesophageal junction cancer.","summary":"UniProt has no function text for B7Z6K7; HGNC names it \"zinc finger protein 814\".\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Stomach Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:33258","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33258"},{"label":"UniProt B7Z6K7","url":"https://www.uniprot.org/uniprotkb/B7Z6K7/entry"},{"label":"NCBI Gene 730051","url":"https://www.ncbi.nlm.nih.gov/gene/730051"},{"label":"Ensembl ENSG00000204514","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000204514"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["gastric"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF814","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:33258","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:33258","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt B7Z6K7","url":"https://www.uniprot.org/uniprotkb/B7Z6K7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF814","url":"https://www.intogen.org/search?gene=ZNF814","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:33258","ensembl":"ENSG00000204514","uniprot":"B7Z6K7","entrez":"730051","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, \"Complete sequencing and characterization of 21,243 full-length human cDNAs\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/14702039/","biology":"UniProt has no function text for B7Z6K7; HGNC names it \"zinc finger protein 814\". Locus 19q13.43 (HGNC).","whereFound":["Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf90","kind":"target","name":"ZNF90","aka":["zinc finger protein 90","Zinc finger protein 90","HTF9"],"tldr":"ZNF90 (Zinc finger protein 90) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Nasopharyngeal carcinoma.","summary":"May be involved in transcriptional regulation.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Nasopharyngeal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13165","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13165"},{"label":"UniProt Q03938","url":"https://www.uniprot.org/uniprotkb/Q03938/entry"},{"label":"NCBI Gene 7643","url":"https://www.ncbi.nlm.nih.gov/gene/7643"},{"label":"Ensembl ENSG00000213988","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000213988"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nasopharyngeal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF90","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:13165","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13165","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q03938","url":"https://www.uniprot.org/uniprotkb/Q03938/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF90","url":"https://www.intogen.org/search?gene=ZNF90","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:13165","ensembl":"ENSG00000213988","uniprot":"Q03938","entrez":"7643","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bellefroid E.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"The evolutionarily conserved Kruppel-associated box domain defines a subfamily of eukaryotic multifingered proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2023909/","biology":"May be involved in transcriptional regulation. Location: Nucleus (UniProt). Locus 19p12 (HGNC).","whereFound":["Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)"],"targetClass":"oncogene","prevalence":[]},{"id":"znf93","kind":"target","name":"ZNF93","aka":["zinc finger protein 93","Zinc finger protein 93","HPF34","TF34","FLJ12488","ZNF505"],"tldr":"ZNF93 (Zinc finger protein 93) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Nasopharyngeal carcinoma.","summary":"Transcription factor specifically required to repress long interspersed nuclear element 1 (L1) retrotransposons: recognises and binds L1 sequences and repress their expression by recruiting a repressive complex containing TRIM28/KAP1. Not able to repress expression of all subtypes of L1 elements. Binds to the 5' end of L1PA4, L1PA5 and L1PA6 subtypes, and some L1PA3 subtypes.\n\nIntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Nasopharyngeal Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13169","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13169"},{"label":"UniProt P35789","url":"https://www.uniprot.org/uniprotkb/P35789/entry"},{"label":"NCBI Gene 81931","url":"https://www.ncbi.nlm.nih.gov/gene/81931"},{"label":"Ensembl ENSG00000184635","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184635"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["nasopharyngeal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNF93","role":["oncogene-driver"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:13169","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13169","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P35789","url":"https://www.uniprot.org/uniprotkb/P35789/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZNF93","url":"https://www.intogen.org/search?gene=ZNF93","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:13169","ensembl":"ENSG00000184635","uniprot":"P35789","entrez":"81931","firstDescribed":1991,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Bellefroid E.J. et al, Proc. Natl. Acad. Sci. U.S.A, 1991, \"The evolutionarily conserved Kruppel-associated box domain defines a subfamily of eukaryotic multifingered proteins\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/2023909/","biology":"Transcription factor specifically required to repress long interspersed nuclear element 1 (L1) retrotransposons: recognises and binds L1 sequences and repress their expression by recruiting a repressive complex containing TRIM28/KAP1. Not able to repress expression of all subtypes of L1 elements. Binds to the 5' end of L1PA4, L1PA5 and L1PA6 subtypes, and some L1PA3 subtypes. Does not bind to L1PA7 or older subtypes nor at the most recently evolved L1PA2 and L1Hs. 50% of L1PA3 elements have lost the ZNF93-binding site, explaining why ZNF93 is not able to repress their expression. Location: Nucleus (UniProt). Locus 19p12 (HGNC).","whereFound":["Nasopharyngeal carcinoma: IntOGen driver in 1 cohort (NPC)"],"targetClass":"oncogene","prevalence":[]},{"id":"znrf3","kind":"target","name":"ZNRF3","aka":["zinc and ring finger 3","E3 ubiquitin-protein ligase ZNRF3","KIAA1133","BK747E2.3","FLJ22057","RNF203"],"tldr":"ZNRF3 (E3 ubiquitin-protein ligase ZNRF3) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Adrenocortical carcinoma.","summary":"E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signalling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signalling pathway. Acts as a tumour suppressor in the intestinal stem cell zone by inhibiting the Wnt signalling pathway, thereby restricting the size of the intestinal stem cell zone.\n\nOpen Targets scores its association with cancer at 0.55 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.94, genetic association 0.56, somatic mutation 0.47, animal model 0.41). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Adrenocortical Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18126"},{"label":"UniProt Q9ULT6","url":"https://www.uniprot.org/uniprotkb/Q9ULT6/entry"},{"label":"NCBI Gene 84133","url":"https://www.ncbi.nlm.nih.gov/gene/84133"},{"label":"Ensembl ENSG00000183579","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183579"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["adrenocortical"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZNRF3","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:18126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18126","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9ULT6","url":"https://www.uniprot.org/uniprotkb/Q9ULT6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000183579","url":"https://platform.opentargets.org/target/ENSG00000183579/associations","note":"association with cancer (MONDO_0004992) 0.55;  (GraphQL API, CC0)"},{"label":"IntOGen ZNRF3","url":"https://www.intogen.org/search?gene=ZNRF3","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:18126","ensembl":"ENSG00000183579","uniprot":"Q9ULT6","entrez":"84133","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Dunham et al, Nature, 1999, \"The DNA sequence of human chromosome 22\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10591208/","biology":"E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signalling pathway by mediating the ubiquitination and subsequent degradation of Wnt receptor complex components Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signalling pathway. Acts as a tumour suppressor in the intestinal stem cell zone by inhibiting the Wnt signalling pathway, thereby restricting the size of the intestinal stem cell zone. Along with RSPO2 and RNF43, constitutes a master switch that governs limb specification. Location: Cell membrane (UniProt). Locus 22q12.1 (HGNC).","whereFound":["Adrenocortical carcinoma: IntOGen driver in 1 cohort (ACC)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"zrsr2","kind":"target","name":"ZRSR2","aka":["zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2","U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2","U2AF1-RS2","ZC3H22","U2AF1L2"],"tldr":"ZRSR2 (U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Skin cancer and 2 more.","summary":"Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the pre-spliceosome, a precursor to other spliceosomal complexes.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.63 (direct and indirect evidence; datatypes literature 0.42, genetic association 0.00, somatic mutation 0.82). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:23019","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23019"},{"label":"UniProt Q15696","url":"https://www.uniprot.org/uniprotkb/Q15696/entry"},{"label":"NCBI Gene 8233","url":"https://www.ncbi.nlm.nih.gov/gene/8233"},{"label":"Ensembl ENSG00000169249","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000169249"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","skin-cancer","non-hodgkin-lymphoma","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZRSR2","role":["tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:23019","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:23019","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q15696","url":"https://www.uniprot.org/uniprotkb/Q15696/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZRSR2","url":"https://civicdb.org/features/6534","note":"1 evidence items, 0 assertions, 1 variants; diseases: Acute Myeloid Leukaemia (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000169249","url":"https://platform.opentargets.org/target/ENSG00000169249/associations","note":"association with cancer (MONDO_0004992) 0.63; per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.51, skin cancer 0.52, myeloproliferative neoplasm 0.59, leukaemia 0.57 (GraphQL API, CC0)"},{"label":"IntOGen ZRSR2","url":"https://www.intogen.org/search?gene=ZRSR2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a tumour suppressor (IntOGen finds it knocked out more often than chance); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ZRSR2: RNA low tissue specificity; no normal tissue stained high. Distribution: 4 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Skin cancer (all types), Lymphoma); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q15696","url":"https://www.uniprot.org/uniprotkb/Q15696/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ZRSR2","url":"https://civicdb.org/features/6534","note":"1 evidence items, 0 assertions, 1 variants; diseases: Acute Myeloid Leukaemia (GraphQL API, CC0)"},{"label":"IntOGen ZRSR2","url":"https://www.intogen.org/search?gene=ZRSR2","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ZRSR2 tissue","url":"https://www.proteinatlas.org/ENSG00000169249-ZRSR2/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000169249 associations","url":"https://platform.opentargets.org/target/ENSG00000169249/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:23019","ensembl":"ENSG00000169249","uniprot":"Q15696","entrez":"8233","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kitagawa et al, Genomics, 1995, \"Isolation and mapping of human homologues of an imprinted mouse gene U2af1-rs1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8586425/","biology":"Pre-mRNA-binding protein required for splicing of both U2- and U12-type introns. Selectively interacts with the 3'-splice site of U2- and U12-type pre-mRNAs and promotes different steps in U2 and U12 intron splicing. Recruited to U12 pre-mRNAs in an ATP-dependent manner and is required for assembly of the pre-spliceosome, a precursor to other spliceosomal complexes. For U2-type introns, it is selectively and specifically required for the second step of splicing. Location: Nucleus (UniProt). Locus Xp22.2 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.59 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Skin cancer: Open Targets association 0.52 with skin cancer (MONDO_0002898)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Acute myeloid leukaemia: CIViC evidence names this disease; IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},{"id":"zxdb","kind":"target","name":"ZXDB","aka":["zinc finger X-linked duplicated B","Zinc finger X-linked protein ZXDB","ZNF905"],"tldr":"ZXDB (Zinc finger X-linked protein ZXDB) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer.","summary":"Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes.\n\nIntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13199","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13199"},{"label":"UniProt P98169","url":"https://www.uniprot.org/uniprotkb/P98169/entry"},{"label":"NCBI Gene 158586","url":"https://www.ncbi.nlm.nih.gov/gene/158586"},{"label":"Ensembl ENSG00000198455","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000198455"}],"tags":["cancer-genes-wave"],"related":["intogen"],"cancers":["breast-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 1 cohort. Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ZXDB","role":["tumour-suppressor"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:13199","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13199","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P98169","url":"https://www.uniprot.org/uniprotkb/P98169/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"IntOGen ZXDB","url":"https://www.intogen.org/search?gene=ZXDB","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificitySources":[],"hgnc":"HGNC:13199","ensembl":"ENSG00000198455","uniprot":"P98169","entrez":"158586","firstDescribed":1993,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Greig G.M. et al, Hum. Mol. Genet, 1993, \"Duplicated zinc finger protein genes on the proximal short arm of the human X chromosome: isolation, characterization and X-inactivation studies\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8268913/","biology":"Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes. Location: Nucleus (UniProt). Locus Xp11.21 (HGNC).","whereFound":["Breast cancer: IntOGen driver in 1 cohort (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]}]