AFF1
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.
Overview
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.
Open 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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Plays an essential role in the activation of transcription elongation from RNA polymerase II promoters, after transcriptional pausing in response to DNA damage.
- 3 · How drugs use it
No product in this corpus aims at AFF1 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:7135 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P51825 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000172493 (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)); IntOGen AFF1 (driver in 1 cohort (Act 0, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
- 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)
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 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.
Latest papers
topQuery for this target: (TITLE:"AFF1" OR ABSTRACT:"AFF1" OR TITLE:"ALF transcription elongation factor 1" OR ABSTRACT:"ALF transcription elongation factor 1" OR TITLE:"AF4/FMR2 family member 1" OR ABSTRACT:"AF4/FMR2 family member 1" OR TITLE:"AF-4" OR ABSTRACT:"AF-4" OR TITLE:"AF4" OR ABSTRACT:"AF4" OR TITLE:"PBM1" OR ABSTRACT:"PBM1") 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 AFF1, not a curated reading list.
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