Gene
BBS1
Bardet-Biedl syndrome 1
Explore in graph →CI-GENE-00021649HGNC:966 ENSG00000174483 NCBI 582 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 (3)
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
- 28485815
- Run
- ING-CBIOPORTAL-20260908-000001
| Cohort | Mapped cancer | Alteration | Affected (n) | Profiled (n) | Frequency (%) | Rank in cohort | Source |
|---|---|---|---|---|---|---|---|
| Uterine Clear Cell Carcinoma (NIH, Cancer 2017) uccc_nih_2017 | Human Papillomavirus-Independent Cervical Adenocarcinoma, Clear Cell-Type | Ssm | 1 | 16 | 6.3% | 178 | cbioportal |
| Diffuse Large B-Cell Lymphoma, NOS (TCGA GDC, 2025) dlbclnos_tcga_gdc | Diffuse Large B-Cell Lymphoma Unclassifiable | Ssm | 2 | 36 | 5.6% | 180 | cbioportal |
| Adenoid Cystic Carcinoma (MSK, Nat Genet 2013) acyc_mskcc_2013 | Adenoid Cystic Carcinoma | Ssm | 1 | 60 | 1.7% | 99 | cbioportal |
Literature
Linked publications (0)
Data not yet available
No publication linked to this gene yet.