{"entity":{"id":"asxl1","kind":"target","name":"ASXL1","aka":["ASXL transcriptional regulator 1","Polycomb group protein ASXL1","KIAA0978"],"tldr":"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.\n\nCIViC 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.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18318","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18318"},{"label":"UniProt Q8IXJ9","url":"https://www.uniprot.org/uniprotkb/Q8IXJ9/entry"},{"label":"NCBI Gene 171023","url":"https://www.ncbi.nlm.nih.gov/gene/171023"},{"label":"Ensembl ENSG00000171456","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000171456"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["myeloproliferative-neoplasms","leukaemia","mds","non-hodgkin-lymphoma","urothelial","breast-cancer","rcc","colorectal"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["clonal-haematopoiesis"],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ASXL1","role":["oncogene-driver","tumour-suppressor","biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18318","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18318","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q8IXJ9","url":"https://www.uniprot.org/uniprotkb/Q8IXJ9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ASXL1","url":"https://civicdb.org/features/68","note":"8 evidence items, 0 assertions, 2 variants; diseases: Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Myelofibrosis (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000171456","url":"https://platform.opentargets.org/target/ENSG00000171456/associations","note":"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)"},{"label":"IntOGen ASXL1","url":"https://www.intogen.org/search?gene=ASXL1","note":"driver in 17 cohorts (Act 1, LoF 16); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:18318","ensembl":"ENSG00000171456","uniprot":"Q8IXJ9","entrez":"171023","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).","whereFound":["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)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/asxl1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"}],"pathway":[{"id":"clonal-haematopoiesis","kind":"pathway","name":"Clonal haematopoiesis (CHIP)","route":"/pathways/clonal-haematopoiesis/"}]}}