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ASXL1 (Polycomb group protein ASXL1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Myelodysplastic syndromes / neoplasms and 5 more.
Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as a coactivator of RARA and RXRA through association with NCOA1. Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity.
CIViC holds 8 clinical evidence items and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.85 (direct and indirect evidence; datatypes literature 0.98, animal model 0.66, genetic association 0.85, somatic mutation 0.93). IntOGen calls it a driver in 17 cohorts (1 activating, 16 loss-of-function), covering Acute Myeloid Leukaemia, Bladder Urothelial Carcinoma, Invasive Breast Carcinoma, Renal Clear Cell Carcinoma, Cholangiocarcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma and others.
In plain words · ASXL1 (Polycomb group protein ASXL1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Myelodysplastic syndromes / neoplasms and 5 more.
ASXL1 (Polycomb group protein ASXL1) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Myelodysplastic syndromes / neoplasms and 5 more.
Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG).
No product in this corpus aims at ASXL1 yet. Transcription factors have no pocket to plug, so drugs either degrade them or block the partner protein they need to dock on DNA.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ASXL1: RNA low tissue specificity; no normal tissue stained high. Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Lymphoma, Bladder & urothelial cancer, Breast cancer (all types), Renal cell carcinoma, Colorectal cancer); Open Targets associates it with 3 specific cancer types at or above 0.5 (myelodysplastic syndrome, acute myeloid leukemia, myeloid leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q8IXJ9; CIViC gene ASXL1; IntOGen ASXL1; Human Protein Atlas ASXL1 tissue; Open Targets ENSG00000171456 associations
First described 1999. Earliest sequence paper UniProt cites for the protein: Nagase et al, DNA Res, 1999, "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". Source.
Sources: HGNC HGNC:18318 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q8IXJ9 (protein name, function text, keywords and locations (REST API)); CIViC gene ASXL1 (8 evidence items, 0 assertions, 2 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)); Open Targets ENSG00000171456 (association with cancer (MONDO_0004992) 0.85; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.77, non-Hodgkin lymphoma 0.62, skin cancer 0.57, myelodysplastic syndrome 0.76, myeloproliferative neoplasm 0.83, leukaemia 0.83 (GraphQL API, CC0)); IntOGen ASXL1 (driver in 17 cohorts (Act 1, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). Acts as a coactivator of RARA and RXRA through association with NCOA1. Acts as a corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity. Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Acts as a sensor of N(6)-methyladenine methylation on DNA (6mA): recognises and binds 6mA DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing. The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signalling, cell proliferation and cell viability. Location: Nucleus (UniProt). Locus 20q11.21 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
No normal tissue stained high.
No cancer sample stained medium or high.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"ASXL1" OR ABSTRACT:"ASXL1" OR TITLE:"ASXL transcriptional regulator 1" OR ABSTRACT:"ASXL transcriptional regulator 1" OR TITLE:"Polycomb group protein ASXL1" OR ABSTRACT:"Polycomb group protein ASXL1" OR TITLE:"KIAA0978" OR ABSTRACT:"KIAA0978") 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 ASXL1, not a curated reading list.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Bladder & urothelial cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Bladder & urothelial cancer.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Renal cell carcinoma, Bladder & urothelial cancer.
Shares Leukaemia (all types), Bladder & urothelial cancer, CIViC, IntOGen.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.
Shares Myelodysplastic syndromes / neoplasms (MDS), Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), CIViC.