AFF4
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.
Overview
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.
Open 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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
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.
- 3 · How drugs use it
No product in this corpus aims at AFF4 yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
External identifiers
Sources: HGNC HGNC:17869 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9UHB7 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000072364 (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)); IntOGen AFF4 (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
- 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)
Notes
top- 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.
Latest papers
topQuery for this target: (TITLE:"AFF4" OR ABSTRACT:"AFF4" OR TITLE:"ALF transcription elongation factor 4" OR ABSTRACT:"ALF transcription elongation factor 4" OR TITLE:"AF4/FMR2 family member 4" OR ABSTRACT:"AF4/FMR2 family member 4" OR TITLE:"AF5Q31" OR ABSTRACT:"AF5Q31") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about AFF4, not a curated reading list.
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