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 | 2,490 | 432 | 2,039 |
| Samples | 1,795 | 325 | 1,456 |
| Peptides | 1,476 | 242 | 1,298 |
Function
UNC13C · Unc-13 homolog C
Predicted to enable calmodulin binding activity and syntaxin-1 binding activity. Predicted to be involved in several processes, including glutamatergic synaptic transmission; regulated exocytosis; and synaptic vesicle maturation. Predicted to be located in presynaptic active zone. Predicted to be active in several cellular components, including axon terminus; parallel fiber to Purkinje cell synapse; and presynaptic active zone cytoplasmic component. [provided by Alliance of Genome Resources, Apr 2022]
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000260323 | Q8NB66 | 2,339 | 1,463 |
| ENST00000539562 | A0A0C4DGH4* | 146 | 91 |
| ENST00000647821 | A0A3B3ISZ1* | 5 | 5 |
Gene Properties
Recurrent Mutations
All 1462 amino-acid changes on canonical ENST00000260323 · 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 UNC13C · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in UNC13C – 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 |
|---|---|---|
| Melanoma | 45/210 21% | 295/1899 16% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 3/26 12% | 0/0 0% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 10/42 24% | 52/612 8% |
| Non-Small Cell Lung Carcinoma | 48/304 16% | 99/1390 7% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 60/810 7% |
| Other Solid Cancers | 2/94 2% | 110/1515 7% |
| Colorectal Carcinoma | 37/143 26% | 162/3239 5% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Gastric Carcinoma | 4/74 5% | 100/1809 6% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Small Cell Lung Carcinoma | 1/9 11% | 33/752 4% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Neuroendocrine Tumour | 26/154 17% | 6/577 1% |
| Hodgkins Lymphoma | 2/16 12% | 4/122 3% |
| Esophageal Squamous Cell Carcinoma | 7/51 14% | 95/2550 4% |
| Esophageal Carcinoma | 2/23 9% | 27/769 4% |
| Other Sarcomas | 6/69 9% | 22/699 3% |
| Ovarian Carcinoma | 25/109 23% | 14/998 1% |
| Bladder Carcinoma | 3/58 5% | 30/956 3% |
| Head and Neck Carcinoma | 2/85 2% | 49/1574 3% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 12/422 3% |
| Plasma Cell Myeloma | 4/44 9% | 5/305 2% |
| Unknown | 0/10 0% | 1/29 3% |
| Pancreatic Carcinoma | 9/89 10% | 30/1611 2% |
| Hepatocellular Carcinoma | 4/46 9% | 45/2210 2% |
| Osteosarcoma | 3/45 7% | 1/166 1% |
| Non-Cancerous | 2/104 2% | 14/830 2% |
Mutation Distribution
Where UNC13C is mutated · all tissues, split by cell line vs tissue
How many mutations in UNC13C 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 52 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 2,490 mutations in UNC13C
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 |
|---|