# ASXL1

Source: https://onco.cc/targets/asxl1/  
OnCo record `asxl1` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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.

## Summary

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.

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: ASXL transcriptional regulator 1; Polycomb group protein ASXL1; KIAA0978
- Tags: cancer-genes-wave
- Symbol: ASXL1
- Class: transcription
- Biology: 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).
- Where found: Myeloproliferative neoplasms: Open Targets association 0.83 with myeloproliferative neoplasm (MONDO_0020076); Leukaemia: Open Targets association 0.83 with leukaemia (MONDO_0005059); Myelodysplastic syndromes / neoplasms: Open Targets association 0.76 with myelodysplastic syndrome (MONDO_0018881); CIViC evidence names this disease; Non-Hodgkin lymphoma: Open Targets association 0.62 with non-Hodgkin lymphoma (MONDO_0018908); Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA); Breast cancer: IntOGen driver in 1 cohort (BRCA)

## 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 an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 16 cohorts; CIViC holds 8 clinical evidence items on its variants. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
- Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Myelofibrosis; High-Grade Glioma, NOS.

## Sources

- HGNC HGNC:18318: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18318
- UniProt Q8IXJ9: https://www.uniprot.org/uniprotkb/Q8IXJ9/entry
- NCBI Gene 171023: https://www.ncbi.nlm.nih.gov/gene/171023
- Ensembl ENSG00000171456: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171456

## Connected records

- collections: [CIViC](https://onco.cc/collections/civic/), [IntOGen](https://onco.cc/collections/intogen/), [Open Targets Platform](https://onco.cc/collections/open-targets/)
- cancers: [Bladder & urothelial cancer](https://onco.cc/cancers/urothelial/), [Breast cancer (all types)](https://onco.cc/cancers/breast-cancer/), [Colorectal cancer](https://onco.cc/cancers/colorectal/), [Leukaemia (all types)](https://onco.cc/cancers/leukaemia/), [Myelodysplastic syndromes / neoplasms (MDS)](https://onco.cc/cancers/mds/), [Myeloproliferative neoplasms (PV, ET, myelofibrosis)](https://onco.cc/cancers/myeloproliferative-neoplasms/), [Non-Hodgkin lymphoma (all types)](https://onco.cc/cancers/non-hodgkin-lymphoma/), [Renal cell carcinoma](https://onco.cc/cancers/rcc/)
- pathways: [Clonal haematopoiesis (CHIP)](https://onco.cc/pathways/clonal-haematopoiesis/)

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JSON: https://onco.cc/api/v1/entities/asxl1.json