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 | 185 | 46 | 138 |
| Samples | 181 | 46 | 134 |
| Peptides | 121 | 28 | 98 |
Function
CA5A · Carbonic anhydrase 5A
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 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 |
|---|---|---|---|
| ENST00000649794 | P35218 | 183 | 119 |
| ENST00000649158 | A0A3B3IRX9* | 2 | 2 |
Gene Properties
Recurrent Mutations
All 119 amino-acid changes on canonical ENST00000649794 · 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 CA5A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CA5A – 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 | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 12/612 2% |
| Melanoma | 8/210 4% | 28/1899 1% |
| Mesothelioma | 0/62 0% | 3/165 2% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Other Solid Cancers | 0/94 0% | 15/1515 1% |
| Ovarian Carcinoma | 5/109 5% | 4/998 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Neuroendocrine Tumour | 4/154 3% | 1/577 0% |
| Colorectal Carcinoma | 1/143 1% | 21/3239 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Gastric Carcinoma | 3/74 4% | 5/1809 0% |
| Meningioma | 0/3 0% | 1/252 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 4/1390 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Biliary Tract Carcinoma | 3/54 6% | 0/950 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Breast Carcinoma | 1/144 1% | 7/3264 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Glioma | 1/52 2% | 3/2127 0% |
| Other Blood Cancers | 1/61 2% | 3/2725 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Thyroid Gland Carcinoma | 2/45 4% | 0/1592 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
Mutation Distribution
Where CA5A is mutated · all tissues, split by cell line vs tissue
How many mutations in CA5A 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 185 mutations in CA5A
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 |
|---|