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 | 2,233 | 416 | 1,682 |
| Samples | 1,719 | 329 | 1,365 |
| Peptides | 1,591 | 283 | 1,246 |
Function
BSN · Bassoon presynaptic cytomatrix protein
Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
1 transcript · 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000296452 | Q9UPA5 | 2,233 | 1,591 |
Gene Properties
Recurrent Mutations
All 1591 amino-acid changes on canonical ENST00000296452 · 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 BSN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in BSN – 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-Lymphoblastic Leukemia | 18/40 45% | 0/0 0% |
| Endometrial Carcinoma | 22/42 52% | 66/612 11% |
| Melanoma | 36/210 17% | 220/1899 12% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| Glioblastoma | 10/98 10% | 0/0 0% |
| Colorectal Carcinoma | 44/143 31% | 233/3239 7% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Hodgkins Lymphoma | 4/16 25% | 6/122 5% |
| Gastric Carcinoma | 11/74 15% | 124/1809 7% |
| Acute Myeloid Leukemia | 6/90 7% | 0/0 0% |
| Other Solid Cancers | 9/94 10% | 86/1515 6% |
| Chordoma | 0/7 0% | 1/13 8% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 59/1390 4% |
| Cervical Carcinoma | 1/35 3% | 20/422 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Bladder Carcinoma | 2/58 3% | 42/956 4% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 29/810 4% |
| Germ Cell Tumour | 3/25 12% | 4/169 2% |
| Plasma Cell Myeloma | 4/44 9% | 8/305 3% |
| Neuroendocrine Tumour | 14/154 9% | 10/577 2% |
| Small Cell Lung Carcinoma | 3/9 33% | 19/752 3% |
| Non-Cancerous | 2/104 2% | 22/830 3% |
| Ovarian Carcinoma | 13/109 12% | 15/998 2% |
| Head and Neck Carcinoma | 7/85 8% | 32/1574 2% |
| Other Sarcomas | 4/69 6% | 13/699 2% |
| Ewings Sarcoma | 1/63 2% | 6/262 2% |
| Biliary Tract Carcinoma | 1/54 2% | 20/950 2% |
| Esophageal Carcinoma | 1/23 4% | 15/769 2% |
| Pancreatic Carcinoma | 5/89 6% | 29/1611 2% |
| Esophageal Squamous Cell Carcinoma | 9/51 18% | 42/2550 2% |
Mutation Distribution
Where BSN is mutated · all tissues, split by cell line vs tissue
How many mutations in BSN 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 2,233 mutations in BSN
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 |
|---|