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 | 1,211 | 183 | 1,012 |
| Samples | 447 | 89 | 352 |
| Peptides | 322 | 59 | 276 |
Function
SV2B · Synaptic vesicle glycoprotein 2B
This gene encodes a member of the synaptic vesicle proteins 2 (SV2) family and major facilitator superfamily of proteins. This protein and other members of the family are localized to synaptic vesicles and may function in the regulation of vesicle trafficking and exocytosis. Studies in mice suggest that the encoded protein may act as a protein receptor for botulinum neurotoxin E in neurons, and that this protein may be important for the integrity of the glomerular filtration barrier. This gene shows reduced expression in areas of synaptic loss in the hippocampus of human temporal lobe epilepsy patients. [provided by RefSeq, Sep 2016].
Isoforms & Proteins
3 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 317 amino-acid changes on canonical ENST00000394232 · 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 SV2B · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in SV2B – 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 | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 26/612 4% |
| Melanoma | 13/210 6% | 71/1899 4% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 24/1390 2% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Colorectal Carcinoma | 11/143 8% | 44/3239 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 13/810 2% |
| Other Solid Cancers | 2/94 2% | 20/1515 1% |
| Other Sarcomas | 3/69 4% | 7/699 1% |
| Gastric Carcinoma | 1/74 1% | 21/1809 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Biliary Tract Carcinoma | 2/54 4% | 8/950 1% |
| Ovarian Carcinoma | 7/109 6% | 4/998 0% |
| Glioma | 0/52 0% | 21/2127 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 5/752 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Bladder Carcinoma | 0/58 0% | 7/956 1% |
| Head and Neck Carcinoma | 0/85 0% | 10/1574 1% |
| Neuroendocrine Tumour | 4/154 3% | 0/577 0% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 6/1592 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Breast Carcinoma | 2/144 1% | 11/3264 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 9/2534 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Pancreatic Carcinoma | 0/89 0% | 5/1611 0% |
Mutation Distribution
Where SV2B is mutated · all tissues, split by cell line vs tissue
How many mutations in SV2B 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 1,211 mutations in SV2B
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 |
|---|