{"entity":{"id":"etv6","kind":"target","name":"ETV6","aka":["ETS variant transcription factor 6","Transcription factor ETV6"],"tldr":"ETV6 (Transcription factor ETV6) is a protein that switches other genes on and off. The public catalogues list it as 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 Leukaemia, Myeloproliferative neoplasms, Non-Hodgkin lymphoma and 5 more.","summary":"Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in haematopoiesis and malignant transformation.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 7 variants. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.95, literature 0.96, genetic association 0.39, somatic mutation 0.86, animal model 0.63). IntOGen calls it a driver in 4 cohorts (3 activating, 1 loss-of-function), covering Acute Lymphoblastic Leukaemia, Bladder Urothelial Carcinoma, Diffuse Large B-Cell Lymphoma, NOS.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3495","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3495"},{"label":"UniProt P41212","url":"https://www.uniprot.org/uniprotkb/P41212/entry"},{"label":"NCBI Gene 2120","url":"https://www.ncbi.nlm.nih.gov/gene/2120"},{"label":"Ensembl ENSG00000139083","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139083"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["leukaemia","myeloproliferative-neoplasms","non-hodgkin-lymphoma","mds","sarcoma","urothelial","breast-cancer","all-leukemia"],"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 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 9 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.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Haematologic Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ETV6","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3495","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3495","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P41212","url":"https://www.uniprot.org/uniprotkb/P41212/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ETV6","url":"https://civicdb.org/features/1769","note":"9 evidence items, 0 assertions, 7 variants; diseases: Haematologic Cancer, Acute Lymphoblastic Leukaemia, Myelodysplastic Syndrome (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000139083","url":"https://platform.opentargets.org/target/ENSG00000139083/associations","note":"association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: sarcoma 0.58, acute myeloid leukaemia 0.64, acute lymphoblastic leukaemia 0.67, non-Hodgkin lymphoma 0.73, myeloproliferative neoplasm 0.75, breast cancer 0.52 (GraphQL API, CC0)"},{"label":"IntOGen ETV6","url":"https://www.intogen.org/search?gene=ETV6","note":"driver in 4 cohorts (Act 3, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:3495","ensembl":"ENSG00000139083","uniprot":"P41212","entrez":"2120","biology":"Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in haematopoiesis and malignant transformation. Location: Nucleus (UniProt). Locus 12p13.2 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.79 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.75 with myeloproliferative neoplasm (MONDO_0020076)","Non-Hodgkin lymphoma: Open Targets association 0.73 with non-Hodgkin lymphoma (MONDO_0018908)","Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease","Sarcomas: Open Targets association 0.58 with sarcoma (MONDO_0005089)","Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/etv6/","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":"all-leukemia","kind":"cancer","name":"Acute lymphoblastic leukaemia","route":"/cancers/all-leukemia/"},{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}]}}