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 | 332 | 44 | 281 |
| Samples | 216 | 33 | 179 |
| Peptides | 156 | 23 | 135 |
Function
BBS4 · Bardet-Biedl syndrome 4
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. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016].
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 154 amino-acid changes on canonical ENST00000268057 · 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 BBS4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BBS4 – 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 |
|---|---|---|
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 9/612 1% |
| Other Solid Cancers | 0/94 0% | 22/1515 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 8/810 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Colorectal Carcinoma | 7/143 5% | 26/3239 1% |
| Melanoma | 1/210 0% | 16/1899 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Cervical Carcinoma | 1/35 3% | 2/422 0% |
| Gastric Carcinoma | 1/74 1% | 11/1809 1% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 9/1390 1% |
| Other Sarcomas | 1/69 1% | 3/699 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 11/2550 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Ovarian Carcinoma | 0/109 0% | 4/998 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Prostate Carcinoma | 0/13 0% | 6/2105 0% |
| Neuroendocrine Tumour | 0/154 0% | 2/577 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Breast Carcinoma | 2/144 1% | 6/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 5/2534 0% |
| Glioma | 1/52 2% | 3/2127 0% |
Mutation Distribution
Where BBS4 is mutated · all tissues, split by cell line vs tissue
How many mutations in BBS4 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 332 mutations in BBS4
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 |
|---|