{"entity":{"id":"aff4","kind":"target","name":"AFF4","aka":["ALF transcription elongation factor 4","AF4/FMR2 family member 4","AF5Q31"],"tldr":"AFF4 (AF4/FMR2 family member 4) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Hepatocellular carcinoma, Skin cancer, Colorectal cancer and 3 more.","summary":"Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression.\n\nOpen Targets scores its association with cancer at 0.67 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.31, somatic mutation 0.81). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Hepatocellular Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:17869","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17869"},{"label":"UniProt Q9UHB7","url":"https://www.uniprot.org/uniprotkb/Q9UHB7/entry"},{"label":"NCBI Gene 27125","url":"https://www.ncbi.nlm.nih.gov/gene/27125"},{"label":"Ensembl ENSG00000072364","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000072364"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["hcc","skin-cancer","colorectal","breast-cancer","lung-cancer","melanoma"],"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; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" 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":"AFF4","role":["oncogene-driver","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:17869","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:17869","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UHB7","url":"https://www.uniprot.org/uniprotkb/Q9UHB7/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000072364","url":"https://platform.opentargets.org/target/ENSG00000072364/associations","note":"association with cancer (MONDO_0004992) 0.67; per-cancer scores at or above 0.5: colorectal cancer 0.52, melanoma 0.52, skin cancer 0.54, breast cancer 0.52, lung cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen AFF4","url":"https://www.intogen.org/search?gene=AFF4","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:17869","ensembl":"ENSG00000072364","uniprot":"Q9UHB7","entrez":"27125","biology":"Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression. Location: Nucleus; Chromosome (UniProt). Locus 5q31.1 (HGNC).","whereFound":["Hepatocellular carcinoma: IntOGen driver in 1 cohort (HCC)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.51 with lung cancer (MONDO_0008903)","Melanoma: Open Targets association 0.52 with melanoma (MONDO_0005105)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/aff4/","neighbours":{"collection":[{"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":"hcc","kind":"cancer","name":"Hepatocellular carcinoma","route":"/cancers/hcc/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}