{"entity":{"id":"etv1","kind":"target","name":"ETV1","aka":["ETS variant transcription factor 1","ETS translocation variant 1","ER81"],"tldr":"ETV1 (ETS translocation variant 1) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer, Pancreatic ductal adenocarcinoma, Breast cancer and 4 more.","summary":"Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'. Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH).\n\nCIViC holds 2 clinical evidence items and 0 assertions across 1 variant, naming Trametinib. Open Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes genetic literature 0.61, literature 0.97, genetic association 0.42, somatic mutation 0.83, animal model 0.39). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Invasive Breast Carcinoma, Colon Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3490","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3490"},{"label":"UniProt P50549","url":"https://www.uniprot.org/uniprotkb/P50549/entry"},{"label":"NCBI Gene 2115","url":"https://www.ncbi.nlm.nih.gov/gene/2115"},{"label":"Ensembl ENSG00000006468","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000006468"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["lung-cancer","pancreatic","breast-cancer","colorectal","prostate","gastric","sarcoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":["paper-tcga-molecular-taxonomy-primary-prostate-cell-2015"],"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: CIViC lists 1 therapies; IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 2 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. 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":"ETV1","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3490","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3490","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P50549","url":"https://www.uniprot.org/uniprotkb/P50549/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV1","url":"https://civicdb.org/features/1764","note":"2 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000006468","url":"https://platform.opentargets.org/target/ENSG00000006468/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: gastric cancer 0.52, prostate cancer 0.57, sarcoma 0.50, lung cancer 0.53 (GraphQL API, CC0)"},{"label":"IntOGen ETV1","url":"https://www.intogen.org/search?gene=ETV1","note":"driver in 2 cohorts (Act 1, LoF 1); 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) and a fusion partner (UniProt records a translocation), 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 ETV1: RNA tissue enhanced (brain 124 nTPM, salivary gland 85 nTPM); no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lung cancer (all types), Pancreatic ductal adenocarcinoma, Breast cancer (all types), Colorectal cancer, Prostate cancer, Gastric & gastro-oesophageal junction cancer, Sarcomas (soft tissue, bone, GIST)); 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 P50549","url":"https://www.uniprot.org/uniprotkb/P50549/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV1","url":"https://civicdb.org/features/1764","note":"2 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer, Pancreatic Cancer (GraphQL API, CC0)"},{"label":"IntOGen ETV1","url":"https://www.intogen.org/search?gene=ETV1","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas ETV1 tissue","url":"https://www.proteinatlas.org/ENSG00000006468-ETV1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000006468 associations","url":"https://platform.opentargets.org/target/ENSG00000006468/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3490","ensembl":"ENSG00000006468","uniprot":"P50549","entrez":"2115","firstDescribed":1995,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Jeon I.-S. et al, Oncogene, 1995, \"A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/7700648/","biology":"Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'. Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH). Location: Nucleus (UniProt). Locus 7p21.2 (HGNC).","whereFound":["Lung cancer: Open Targets association 0.53 with lung cancer (MONDO_0008903); CIViC evidence names this disease","Pancreatic ductal adenocarcinoma: CIViC evidence names this disease","Breast cancer: IntOGen driver in 1 cohort (BRCA)","Colorectal cancer: IntOGen driver in 1 cohort (COAD)","Prostate cancer: Open Targets association 0.57 with prostate cancer (MONDO_0008315)","Gastric & gastro-oesophageal junction cancer: Open Targets association 0.52 with gastric cancer (MONDO_0001056)","Prostate cancer: fusion of a non-erg ets transcription factor, usually to tmprss2 or slc45a3 1-14% depending on disease state"],"targetClass":"transcription","prevalence":[{"cancerId":"prostate","pct":"1-14","measure":"Fusion of a non-ERG ETS transcription factor, usually to TMPRSS2 or SLC45A3","source":"https://www.cbioportal.org/study/summary?id=prad_tcga_pub","note":"cBioPortal, samples: in prad_tcga_pub, ETV1 29 of 333 (8.7%), ETV4 16 (4.8%) and FLI1 4 (1.2%), matching the TCGA paper's 8%, 4% and 1%; in prad_tcga_pan_can_atlas_2018, ETV1 11, ETV4 12 and ETV5 2 of 494; in prad_p1000, ETV1 45, ETV4 23 and FLI1 5 of 1,013; in prad_su2c_2019, ETV1 22, ETV4 12, ETV5 3 and FLI1 1 of 444. Counting any ETS fusion together: 224 of 494, 45.3%, in prad_tcga_pan_can_atlas_2018; 378 of 1,013, 37.3%, in prad_p1000; 172 of 444, 38.7%, in prad_su2c_2019; 564 of 2,260, 25.0%, in prostate_msk_2024."}]},"route":"/targets/etv1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}],"paper":[{"id":"paper-tomlins-tmprss2-ets-fusion-science-2005","kind":"paper","name":"Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer","route":"/key-papers/paper-tomlins-tmprss2-ets-fusion-science-2005/"},{"id":"paper-tcga-molecular-taxonomy-primary-prostate-cell-2015","kind":"paper","name":"TCGA: the molecular taxonomy of primary prostate cancer","route":"/key-papers/paper-tcga-molecular-taxonomy-primary-prostate-cell-2015/"}],"biomarker":[{"id":"tmprss2-erg-fusion","kind":"biomarker","name":"TMPRSS2-ERG fusion (and the other ETS rearrangements)","route":"/biomarkers/tmprss2-erg-fusion/"}]}}