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 | 604 | 90 | 507 |
| Samples | 311 | 58 | 248 |
| Peptides | 228 | 40 | 195 |
Function
BBS2 · Bardet-Biedl syndrome 2
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[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 224 amino-acid changes on canonical ENST00000245157 · 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 BBS2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BBS2 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Endometrial Carcinoma | 3/42 7% | 23/612 4% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 8/210 4% | 32/1899 2% |
| Colorectal Carcinoma | 12/143 8% | 43/3239 1% |
| Cervical Carcinoma | 0/35 0% | 6/422 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 15/1390 1% |
| Non-Cancerous | 1/104 1% | 10/830 1% |
| Meningioma | 1/3 33% | 2/252 1% |
| Other Solid Cancers | 1/94 1% | 18/1515 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 11/956 1% |
| Burkitts Lymphoma | 1/32 3% | 1/196 1% |
| Mesothelioma | 1/62 2% | 1/165 1% |
| Plasma Cell Myeloma | 3/44 7% | 0/305 0% |
| Hepatocellular Carcinoma | 0/46 0% | 17/2210 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Gastric Carcinoma | 0/74 0% | 11/1809 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 5/810 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Medulloblastoma | 0/0 0% | 2/450 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Head and Neck Carcinoma | 1/85 1% | 5/1574 0% |
| Neuroblastoma | 5/87 6% | 0/1331 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Kidney Carcinoma | 1/85 1% | 4/1862 0% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 1/2534 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 6/2550 0% |
Mutation Distribution
Where BBS2 is mutated · all tissues, split by cell line vs tissue
How many mutations in BBS2 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 604 mutations in BBS2
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 |
|---|