{"entity":{"id":"setd1b","kind":"target","name":"SETD1B","aka":["SET domain containing 1B, histone lysine methyltransferase","Histone-lysine N-methyltransferase SETD1B","KIAA1076","Set1B","KMT2G"],"tldr":"SETD1B (Histone-lysine N-methyltransferase SETD1B) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Oesophageal cancer, Head and neck squamous cell carcinoma, Ovarian cancer and 5 more.","summary":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place. Plays an essential role in regulating the transcriptional programming of multipotent haematopoietic progenitor cells and lymphoid lineage specification during haematopoiesis.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. IntOGen calls it a driver in 8 cohorts (1 activating, 7 loss-of-function), covering Oesophageal Adenocarcinoma, Head and Neck Squamous Cell Carcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer, Ovarian Epithelial Tumour, Pancreatic Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:29187","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29187"},{"label":"UniProt Q9UPS6","url":"https://www.uniprot.org/uniprotkb/Q9UPS6/entry"},{"label":"NCBI Gene 23067","url":"https://www.ncbi.nlm.nih.gov/gene/23067"},{"label":"Ensembl ENSG00000139718","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139718"}],"tags":["cancer-genes-wave"],"related":["civic","intogen"],"cancers":["esophageal","head-and-neck","ovarian","pancreatic","gastric","urothelial","dlbcl","nsclc"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 7 cohorts; CIViC holds 1 clinical evidence items on its variants. Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"SETD1B","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:29187","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:29187","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UPS6","url":"https://www.uniprot.org/uniprotkb/Q9UPS6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SETD1B","url":"https://civicdb.org/features/9261","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SETD1B","url":"https://www.intogen.org/search?gene=SETD1B","note":"driver in 8 cohorts (Act 1, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"specificity":"tumour-specific","distribution":"many-types","specificityNote":"Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA SETD1B: RNA low tissue specificity; high antibody staining in 2 normal tissues; highest cancer staining endometrial cancer (1 of 12 high). Distribution: 8 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Oesophageal cancer, Head and neck squamous cell carcinoma, Ovarian cancer, Pancreatic ductal adenocarcinoma, Gastric & gastro-oesophageal junction cancer, Bladder & urothelial cancer, Lymphoma and more); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UPS6","url":"https://www.uniprot.org/uniprotkb/Q9UPS6/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene SETD1B","url":"https://civicdb.org/features/9261","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen SETD1B","url":"https://www.intogen.org/search?gene=SETD1B","note":"driver in 8 cohorts (Act 1, LoF 7); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas SETD1B tissue","url":"https://www.proteinatlas.org/ENSG00000139718-SETD1B/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000139718 associations","url":"https://platform.opentargets.org/target/ENSG00000139718/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:29187","ensembl":"ENSG00000139718","uniprot":"Q9UPS6","entrez":"23067","firstDescribed":1999,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Kikuno et al, DNA Res, 1999, \"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10470851/","biology":"Histone methyltransferase that catalyses methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery, forms H3K4me1, H3K4me2 and H3K4me3 methylation marks at active chromatin sites where transcription and DNA repair take place. Plays an essential role in regulating the transcriptional programming of multipotent haematopoietic progenitor cells and lymphoid lineage specification during haematopoiesis. Location: Nucleus; Nucleus speckle; Chromosome; Cytoplasm (UniProt). Locus 12q24.31 (HGNC).","whereFound":["Oesophageal cancer: IntOGen driver in 1 cohort (ESCA)","Head and neck squamous cell carcinoma: IntOGen driver in 1 cohort (HNSC)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Pancreatic ductal adenocarcinoma: IntOGen driver in 1 cohort (PAAD)","Gastric & gastro-oesophageal junction cancer: IntOGen driver in 1 cohort (STAD)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (UTUC)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/setd1b/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"}],"cancer":[{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"esophageal","kind":"cancer","name":"Oesophageal cancer","route":"/cancers/esophageal/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"}]}}