Gene
HEPH
hephaestin
Explore in graph →CI-GENE-00004313HGNC:4866 ENSG00000089472 NCBI 9843 Cancer geneApproved
Curated evidence
Clinical evidence (0)
CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.
Data not yet available
No curated evidence item involves this gene yet.
Cohorts
Alteration frequency by cohort (8)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
gdcProvenance
- 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 |
|---|---|---|---|---|---|---|---|
| Exceptional Responders EXCEPTIONAL_RESPONDERS-ER | unmapped | Ssm | 3 | 20 | 15% | 66 | gdc |
| Normal Fibroblasts (UCSF, BioRxiv 2024) normal_skin_fibroblast_2024 |
Literature
Linked publications (0)
Data not yet available
No publication linked to this gene yet.