Gene
SETBP1
SET binding protein 1
Explore in graph →CI-GENE-00030391HGNC:15573 ENSG00000152217 NCBI 26040 CIViC Cancer geneApproved
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
- 23832011
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| SETBP1 D868N1 | ||||||||
| (diagnostic) | Juvenile Myelomonocytic Leukemia | Diagnostic | B | Supports Positive | 3 | submitted | EID6968Five of the 11 somatic mutations were non–RAS pathway mutations, involving SETBP1 (3 p.Asp868Asn alterations), JAK3 (1 p.Arg657Gln alteration) and SH3BP1 (1 p.Ser277Leu alteration), which had not been… | |
Cohorts
Alteration frequency by cohort (44)
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 |
|---|---|---|---|---|---|---|---|
| Esophageal Carcinoma TCGA-ESCA | Esophageal Carcinoma | Ssm |
Literature
Linked publications (1)
25 per page, newest first.
- Source
- PubMed (NLM)
- Dataset
- PubMed E-utilities
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
· Nat Genet · 2013 · PMID 23222956 · validated civic_curation pubmed