Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 586 | 65 | 513 |
| Samples | 297 | 43 | 249 |
| Peptides | 254 | 28 | 227 |
Function
BBS7 · Bardet-Biedl syndrome 7
This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 251 amino-acid changes on canonical ENST00000264499 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in BBS7 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BBS7 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 20/612 3% |
| Melanoma | 8/210 4% | 44/1899 2% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 22/1390 2% |
| Colorectal Carcinoma | 14/143 10% | 29/3239 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Gastric Carcinoma | 2/74 3% | 14/1809 1% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 9/1592 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Ovarian Carcinoma | 0/109 0% | 5/998 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Glioma | 0/52 0% | 9/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 10/2550 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
| Breast Carcinoma | 2/144 1% | 6/3264 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
Mutation Distribution
Where BBS7 is mutated · all tissues, split by cell line vs tissue
How many mutations in BBS7 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 586 mutations in BBS7
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|