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 | 355 | 53 | 300 |
| Samples | 334 | 51 | 281 |
| Peptides | 227 | 35 | 196 |
Function
CPA6 · Carboxypeptidase A6
The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016].
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 |
|---|---|---|---|
| ENST00000297770 | Q8N4T0 | 355 | 227 |
Gene Properties
Recurrent Mutations
All 227 amino-acid changes on canonical ENST00000297770 · 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 CPA6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CPA6 – 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% |
| Melanoma | 5/210 2% | 61/1899 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Endometrial Carcinoma | 4/42 10% | 13/612 2% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Other Solid Cancers | 0/94 0% | 23/1515 2% |
| Bladder Carcinoma | 0/58 0% | 14/956 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 13/1390 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 10/810 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Colorectal Carcinoma | 5/143 4% | 28/3239 1% |
| Ewings Sarcoma | 3/63 5% | 0/262 0% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Esophageal Carcinoma | 0/23 0% | 7/769 1% |
| Plasma Cell Myeloma | 2/44 5% | 1/305 0% |
| Gastric Carcinoma | 1/74 1% | 15/1809 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 10/1592 1% |
| Small Cell Lung Carcinoma | 2/9 22% | 3/752 0% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Head and Neck Carcinoma | 2/85 2% | 7/1574 0% |
| Ovarian Carcinoma | 0/109 0% | 6/998 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Breast Carcinoma | 3/144 2% | 13/3264 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 12/2550 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Neuroblastoma | 2/87 2% | 3/1331 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Other Sarcomas | 1/69 1% | 1/699 0% |
Mutation Distribution
Where CPA6 is mutated · all tissues, split by cell line vs tissue
How many mutations in CPA6 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 34 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 355 mutations in CPA6
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 |
|---|