{"entity":{"id":"u2af1","kind":"target","name":"U2AF1","aka":["U2 small nuclear RNA auxiliary factor 1","Splicing factor U2AF 35 kDa subunit","U2AF35","RNU2AF1","U2AFBP"],"tldr":"U2AF1 (Splicing factor U2AF 35 kDa subunit) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Lung cancer and 5 more.","summary":"Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron.\n\nCIViC holds 9 clinical evidence items and 0 assertions across 4 variants. Open Targets scores its association with cancer at 0.76 (direct and indirect evidence; datatypes affected pathway 0.61, literature 0.93, genetic association 0.00, somatic mutation 0.97, animal model 0.53). IntOGen calls it a driver in 15 cohorts (15 activating, 0 loss-of-function), covering Acute Myeloid Leukaemia, Cholangiocarcinoma, Lung Adenocarcinoma, Non-Small Cell Lung Cancer, Pancreatic Adenocarcinoma, Prostate Adenocarcinoma and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:12453","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12453"},{"label":"UniProt Q01081","url":"https://www.uniprot.org/uniprotkb/Q01081/entry"},{"label":"NCBI Gene 7307","url":"https://www.ncbi.nlm.nih.gov/gene/7307"},{"label":"Ensembl ENSG00000160201","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000160201"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","lung-cancer","pancreatic","mds","prostate","gastric","endometrial"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["rna-splicing"],"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 15 cohorts; CIViC holds 9 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.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myelofibrosis."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"U2AF1","role":["oncogene-driver","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:12453","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12453","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q01081","url":"https://www.uniprot.org/uniprotkb/Q01081/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene U2AF1","url":"https://civicdb.org/features/48","note":"9 evidence items, 0 assertions, 4 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000160201","url":"https://platform.opentargets.org/target/ENSG00000160201/associations","note":"association with cancer (MONDO_0004992) 0.76; per-cancer scores at or above 0.5: non-small cell lung carcinoma 0.60, melanoma 0.52, acute myeloid leukaemia 0.64, skin cancer 0.52, myeloproliferative neoplasm 0.70, lung cancer 0.64 (GraphQL API, CC0)"},{"label":"IntOGen U2AF1","url":"https://www.intogen.org/search?gene=U2AF1","note":"driver in 15 cohorts (Act 15, LoF 0); 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); 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 U2AF1: RNA low tissue specificity; high antibody staining in 42 normal tissues; highest cancer staining testis cancer (12 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lung cancer (all types), Pancreatic ductal adenocarcinoma, Prostate cancer, Gastric & gastro-oesophageal junction cancer, Endometrial cancer); Open Targets associates it with 2 specific cancer types at or above 0.5 (acute myeloid leukemia, lung adenocarcinoma). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q01081","url":"https://www.uniprot.org/uniprotkb/Q01081/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene U2AF1","url":"https://civicdb.org/features/48","note":"9 evidence items, 0 assertions, 4 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)"},{"label":"IntOGen U2AF1","url":"https://www.intogen.org/search?gene=U2AF1","note":"driver in 15 cohorts (Act 15, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"},{"label":"Human Protein Atlas U2AF1 tissue","url":"https://www.proteinatlas.org/ENSG00000160201-U2AF1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000160201 associations","url":"https://platform.opentargets.org/target/ENSG00000160201/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:12453","ensembl":"ENSG00000160201","uniprot":"Q01081","entrez":"7307","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Zhang et al, Proc. Natl. Acad. Sci. U.S.A, 1992, \"Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1388271/","biology":"Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron. Location: Nucleus; Nucleus speckle (UniProt). Locus 21q22.3 (HGNC).","whereFound":["Myeloproliferative neoplasms: Open Targets association 0.70 with myeloproliferative neoplasm (MONDO_0020076)","Leukaemia: Open Targets association 0.70 with leukaemia (MONDO_0005059)","Lung cancer: Open Targets association 0.64 with lung cancer (MONDO_0008903)","Pancreatic ductal adenocarcinoma: IntOGen driver in 4 cohorts (PAAD)","Myelodysplastic syndromes / neoplasms: CIViC evidence names this disease","Prostate cancer: IntOGen driver in 1 cohort (PRAD)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/u2af1/","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":"endometrial","kind":"cancer","name":"Endometrial cancer","route":"/cancers/endometrial/"},{"id":"gastric","kind":"cancer","name":"Gastric & gastro-oesophageal junction cancer","route":"/cancers/gastric/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"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":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"}],"pathway":[{"id":"rna-splicing","kind":"pathway","name":"RNA splicing","route":"/pathways/rna-splicing/"}]}}