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 | 520 | 93 | 419 |
| Samples | 482 | 91 | 386 |
| Peptides | 346 | 50 | 302 |
Function
CAPN6 · Calpain 6
Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009].
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 |
|---|---|---|---|
| ENST00000324068 | Q9Y6Q1 | 520 | 346 |
Gene Properties
Recurrent Mutations
All 346 amino-acid changes on canonical ENST00000324068 · 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 CAPN6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CAPN6 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Endometrial Carcinoma | 9/42 21% | 34/612 6% |
| Melanoma | 11/210 5% | 85/1899 4% |
| Acute Monocytic Leukemia | 1/1 100% | 0/25 0% |
| Non-Small Cell Lung Carcinoma | 25/304 8% | 36/1390 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 16/810 2% |
| Cervical Carcinoma | 3/35 9% | 5/422 1% |
| Colorectal Carcinoma | 7/143 5% | 51/3239 2% |
| Ovarian Carcinoma | 9/109 8% | 7/998 1% |
| Other Solid Cancers | 2/94 2% | 21/1515 1% |
| Neuroendocrine Tumour | 8/154 5% | 2/577 0% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Gastric Carcinoma | 0/74 0% | 17/1809 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 19/2550 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 5/752 1% |
| Head and Neck Carcinoma | 0/85 0% | 11/1574 1% |
| Hepatocellular Carcinoma | 1/46 2% | 12/2210 1% |
| Other Sarcomas | 1/69 1% | 3/699 0% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Pancreatic Carcinoma | 0/89 0% | 8/1611 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Non-Cancerous | 1/104 1% | 3/830 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Breast Carcinoma | 1/144 1% | 11/3264 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
Mutation Distribution
Where CAPN6 is mutated · all tissues, split by cell line vs tissue
How many mutations in CAPN6 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 45 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 520 mutations in CAPN6
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 |
|---|