{"entity":{"id":"ebf1","kind":"target","name":"EBF1","aka":["EBF transcription factor 1","Transcription factor COE1","OLF1","COE1"],"tldr":"EBF1 (Transcription factor COE1) 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 Breast cancer, Non-Hodgkin lymphoma, Neuroendocrine tumours and 4 more.","summary":"Key pioneer transcription factor of B-cell specification and commitment. Recognises variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Operates in a transcription factor network to activate B-cell-specific genes and repress genes associated with alternative cell fates.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.74 (direct and indirect evidence; datatypes literature 0.93, animal model 0.43, genetic association 0.62, somatic mutation 0.83). IntOGen calls it a driver in 6 cohorts (3 activating, 3 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Lung Squamous Cell Carcinoma, Malignant Lymphoma, Non-Hodgkin Lymphoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3126"},{"label":"UniProt Q9UH73","url":"https://www.uniprot.org/uniprotkb/Q9UH73/entry"},{"label":"NCBI Gene 1879","url":"https://www.ncbi.nlm.nih.gov/gene/1879"},{"label":"Ensembl ENSG00000164330","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000164330"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["breast-cancer","non-hodgkin-lymphoma","neuroendocrine","lung-cancer","skin-cancer","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 3 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 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":"EBF1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3126","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3126","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UH73","url":"https://www.uniprot.org/uniprotkb/Q9UH73/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EBF1","url":"https://civicdb.org/features/1590","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000164330","url":"https://platform.opentargets.org/target/ENSG00000164330/associations","note":"association with cancer (MONDO_0004992) 0.74; per-cancer scores at or above 0.5: neuroendocrine neoplasm 0.55, diffuse large B-cell lymphoma 0.54, non-Hodgkin lymphoma 0.62, skin cancer 0.54, breast cancer 0.66, lung cancer 0.55 (GraphQL API, CC0)"},{"label":"IntOGen EBF1","url":"https://www.intogen.org/search?gene=EBF1","note":"driver in 6 cohorts (Act 3, LoF 3); 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 EBF1: RNA tissue enhanced (adipose tissue 35 nTPM); blood lineage lineage enriched (B-cells 12 nTPM); no normal tissue stained high. Distribution: 5 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Breast cancer (all types), Lymphoma, Neuroendocrine tumours, Lung cancer (all types), Skin cancer (all types)); Open Targets associates it with 3 specific cancer types at or above 0.5 (breast carcinoma, breast cancer, diffuse large B-cell lymphoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q9UH73","url":"https://www.uniprot.org/uniprotkb/Q9UH73/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene EBF1","url":"https://civicdb.org/features/1590","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"IntOGen EBF1","url":"https://www.intogen.org/search?gene=EBF1","note":"driver in 6 cohorts (Act 3, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas EBF1 tissue","url":"https://www.proteinatlas.org/ENSG00000164330-EBF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000164330 associations","url":"https://platform.opentargets.org/target/ENSG00000164330/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3126","ensembl":"ENSG00000164330","uniprot":"Q9UH73","entrez":"1879","firstDescribed":2000,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Gisler et al, Blood, 2000, \"Cloning of human early B-cell factor and identification of target genes suggest a conserved role in B-cell development in man and mouse\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/10942392/","biology":"Key pioneer transcription factor of B-cell specification and commitment. Recognises variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Operates in a transcription factor network to activate B-cell-specific genes and repress genes associated with alternative cell fates. For instance, positively regulates many B-cell specific genes including BCR or CD40 while repressing genes that direct cells into alternative lineages, including GATA3 and TCF7 for the T-cell lineage. In addition to its role during lymphopoiesis, controls the thermogenic gene program in adipocytes during development and in response to environmental cold. In addition, binds to the viral LMP1 proximal promoter and promotes its expression during latency. Location: Nucleus (UniProt). Locus 5q33.3 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.66 with breast cancer (MONDO_0007254)","Non-Hodgkin lymphoma: Open Targets association 0.62 with non-Hodgkin lymphoma (MONDO_0018908); IntOGen driver in 2 cohorts (MLYM, NHL)","Neuroendocrine tumours: Open Targets association 0.55 with neuroendocrine neoplasm (MONDO_0019496)","Lung cancer: Open Targets association 0.55 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Diffuse large B-cell lymphoma: Open Targets association 0.54 with diffuse large B-cell lymphoma (MONDO_0018905); CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/ebf1/","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":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"neuroendocrine","kind":"cancer","name":"Neuroendocrine tumours","route":"/cancers/neuroendocrine/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}