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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.
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.
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.
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.
Plays an essential role in the activation of transcription elongation from RNA polymerase II promoters, after transcriptional pausing in response to DNA damage.
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).
First described 1993. Earliest sequence paper UniProt cites for the protein: Nakamura et al, Proc. Natl. Acad. Sci. U.S.A, 1993, "Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs". Source.
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)
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).
Query 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.
Shares Leukaemia (all types), IntOGen, Non-Hodgkin lymphoma (all types), Melanoma.
Shares Leukaemia (all types), Acute lymphoblastic leukaemia, IntOGen, Non-Hodgkin lymphoma (all types).
Shares Leukaemia (all types), Acute lymphoblastic leukaemia, IntOGen, Non-Hodgkin lymphoma (all types).
Shares Leukaemia (all types), Acute lymphoblastic leukaemia, Non-Hodgkin lymphoma (all types), Open Targets Platform.
Shares Leukaemia (all types), Acute lymphoblastic leukaemia, Non-Hodgkin lymphoma (all types), Open Targets Platform.
Shares Leukaemia (all types), Acute lymphoblastic leukaemia, Non-Hodgkin lymphoma (all types), Open Targets Platform.
Shares Leukaemia (all types), Acute lymphoblastic leukaemia, Non-Hodgkin lymphoma (all types), Open Targets Platform.
Shares Leukaemia (all types), Acute lymphoblastic leukaemia, Non-Hodgkin lymphoma (all types), Open Targets Platform.