Gene
HEPHL1
hephaestin like 1
Explore in graph →CI-GENE-00004314HGNC:30477 ENSG00000181333 NCBI 341208 Approved
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 (4)
Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.
cbioportalProvenance
- 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
- 29301960
- Run
- ING-CBIOPORTAL-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Clear Cell Renal Cell Carcinoma (DFCI, Science 2019) ccrcc_dfci_2019 | Clear Cell Renal Cell Carcinoma | Ssm | 2 | 35 | 5.7% | 151 | cbioportal |
| Uterine Carcinosarcoma (TCGA, Firehose Legacy) ucs_tcga | Uterine Malignant Mixed Mesodermal (Mullerian) Tumor | Ssm | 3 | 57 | 5.3% | 149 | cbioportal |
| Uterine Carcinosarcoma/Uterine Malignant Mixed Mullerian Tumor (TCGA GDC, 2025) ucs_tcga_gdc | Uterine Malignant Mixed Mesodermal (Mullerian) Tumor | Ssm | 3 | 57 | 5.3% | 112 | cbioportal |
| Uterine Carcinosarcoma (TCGA, PanCancer Atlas) ucs_tcga_pan_can_atlas_2018 | Uterine Malignant Mixed Mesodermal (Mullerian) Tumor | Ssm | 3 |
Literature
Linked publications (0)
Data not yet available
No publication linked to this gene yet.