{"entity":{"id":"aff1","kind":"target","name":"AFF1","aka":["ALF transcription elongation factor 1","AF4/FMR2 family member 1","AF-4","AF4","PBM1","MLLT2"],"tldr":"AFF1 (AF4/FMR2 family member 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Leukaemia, Non-Hodgkin lymphoma, Melanoma and 1 more.","summary":"Plays an essential role in the activation of transcription elongation from RNA polymerase II promoters, after transcriptional pausing in response to DNA damage. Upon DNA damage, AFF1-mediated transcriptional recovery requires AFF1 poly-ADP-ribosylation by PARP1.\n\nOpen Targets scores its association with cancer at 0.45 (direct and indirect evidence; datatypes literature 0.58, animal model 0.39, genetic association 0.03, somatic mutation 0.70). IntOGen calls it a driver in 1 cohort (0 activating, 1 loss-of-function), covering Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:7135","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7135"},{"label":"UniProt P51825","url":"https://www.uniprot.org/uniprotkb/P51825/entry"},{"label":"NCBI Gene 4299","url":"https://www.ncbi.nlm.nih.gov/gene/4299"},{"label":"Ensembl ENSG00000172493","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000172493"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["leukaemia","non-hodgkin-lymphoma","melanoma","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 a loss-of-function (LoF) 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":"AFF1","role":["tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:7135","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7135","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P51825","url":"https://www.uniprot.org/uniprotkb/P51825/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000172493","url":"https://platform.opentargets.org/target/ENSG00000172493/associations","note":"association with cancer (MONDO_0004992) 0.45; per-cancer scores at or above 0.5: acute lymphoblastic leukaemia 0.54, non-Hodgkin lymphoma 0.55, leukaemia 0.57 (GraphQL API, CC0)"},{"label":"IntOGen AFF1","url":"https://www.intogen.org/search?gene=AFF1","note":"driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:7135","ensembl":"ENSG00000172493","uniprot":"P51825","entrez":"4299","biology":"Plays an essential role in the activation of transcription elongation from RNA polymerase II promoters, after transcriptional pausing in response to DNA damage. Upon DNA damage, AFF1-mediated transcriptional recovery requires AFF1 poly-ADP-ribosylation by PARP1. Location: Nucleus (UniProt). Locus 4q21.3-q22.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.55 with non-Hodgkin lymphoma (MONDO_0018908)","Melanoma: IntOGen driver in 1 cohort (MEL)","Acute lymphoblastic leukaemia: Open Targets association 0.54 with acute lymphoblastic leukaemia (MONDO_0004967)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/aff1/","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":"all-leukemia","kind":"cancer","name":"Acute lymphoblastic leukaemia","route":"/cancers/all-leukemia/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"}]}}