Gene
ASXL1
ASXL transcriptional regulator 1
Explore in graph →CI-GENE-00011589HGNC:18318 ENSG00000171456 NCBI 171023 CIViC Cancer geneApproved
Curated evidence
Clinical evidence (8)
CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 23018865
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| ASXL1 EXON 12 MUTATION1 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID1379In patients with de novo AML who received intensive chemotherapy, ASXL1 mutations (N=51) were associated with shorter overall (P<0.001) and event free survival (P=0.012) compared to ASXL1 wild-type (N… (full text at CIViC) PMID 23018865 · Schnittger et al., 2013 · Open in CIViC | civic |
| ASXL1 Mutation7 | ||||||||
| (prognostic) | Acute Myeloid LeukemiaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 5 | accepted | EID1513Patients with Acute Myeloid Leukemia showed an synergistic mortality rate with ASXL1 and SRSF2 co-mutations such that individual mutations of either ASXL1 or SRSF2 resulted in ~20% probability of surv… | |
Cohorts
Alteration frequency by cohort (182)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
- Source
- NCI Genomic Data Commons (open aggregated data)
- Dataset
- GDC top mutated genes by project
- Version
- Data Release 46.0
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- cohort
- License
- Open-access GDC data (NCI); citation of GDC and originating program requested
- Run
- ING-GDC-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Rectum Adenocarcinoma TCGA-READ | Rectal AdenocarcinomaALIAS |
Literature
Linked publications (6)
25 per page, newest first.
- Source
- PubMed (NLM)
- Dataset
- PubMed E-utilities
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)