Gene
GATA1
GATA binding protein 1
Explore in graph →CI-GENE-00002797HGNC:4170 ENSG00000102145 NCBI 2623 CIViC Approved
Curated evidence
Clinical evidence (3)
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
- 27069254
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| GATA1 Mutation1 | ||||||||
| (diagnostic) | Myeloid Leukemia Associated with Down Syndrome | Diagnostic | A | Supports Positive | 5 | submitted | EID8511Children with Down syndrome are at increased risk to developing Transient Abnormal Myelopoiesis (TAM) and Myeloid Leukemia associated with Down Syndrome (ML-DS). GATA1, a gene that encodes an essentia… (full text at CIViC) PMID 27069254 · Arber et al., 2016 · Open in CIViC | civic |
| GATA1 p.Ser51Alafs*861 | ||||||||
| (prognostic) | Transient Abnormal MyelopoiesisALIAS | Prognostic | C | Supports Better Outcome | 2 | submitted | EID8302We report an additional case of twin-to-twin transmission of a TAM clone with identical GATA1 exon 2 mutations in monochorionic-diamniotic twin infants without constitutional T21. This case along with… | |
Cohorts
Alteration frequency by cohort (40)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
- Source
- cBioPortal for Cancer Genomics (public studies)
- Dataset
- cBioPortal mutated genes by study
- Version
- cbioportal-2026-09-01
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- cohort
- License
- ODC Open Database License (ODC-ODbL) unless otherwise noted per study; attribution to the original studies required
- PMID
- 36355783
- Run
- ING-CBIOPORTAL-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Colorectal Cancer (MSK, Cancer Discovery 2022) coadread_mskresistance_2022 | Colorectal Adenocarcinoma | Ssm | 8 |
Literature
Linked publications (0)
Data not yet available