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 | 129 | 36 | 92 |
| Samples | 122 | 32 | 89 |
| Peptides | 92 | 20 | 73 |
Function
CA5B · Carbonic anhydrase 5B
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. This gene encodes carbonic anhydrase 5B. CA5B, and the related CA5A gene, has its expression localized in the mitochondria though CA5B has a wider tissue distribution than CA5A, which is restricted to the liver, kidneys, and skeletal muscle. A carbonic anhydrase pseudogene (CA5BP1) is adjacent to the CA5B gene and these two loci produce CA5BP1-CA5B readthrough transcripts. [provided by RefSeq, Jan 2019].
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 |
|---|---|---|---|
| ENST00000318636 | Q9Y2D0 | 129 | 92 |
Gene Properties
Recurrent Mutations
All 92 amino-acid changes on canonical ENST00000318636 · 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 CA5B · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CA5B – 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 |
|---|---|---|
| Endometrial Carcinoma | 2/42 5% | 15/612 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 3/810 0% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Colorectal Carcinoma | 7/143 5% | 15/3239 0% |
| Bladder Carcinoma | 2/58 3% | 4/956 0% |
| Melanoma | 4/210 2% | 8/1899 0% |
| Neuroendocrine Tumour | 3/154 2% | 1/577 0% |
| Gastric Carcinoma | 0/74 0% | 10/1809 1% |
| Biliary Tract Carcinoma | 2/54 4% | 2/950 0% |
| Ovarian Carcinoma | 2/109 2% | 1/998 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Breast Carcinoma | 2/144 1% | 6/3264 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Other Sarcomas | 0/69 0% | 1/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 2/1390 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 2/2550 0% |
| Prostate Carcinoma | 0/13 0% | 1/2105 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
Mutation Distribution
Where CA5B is mutated · all tissues, split by cell line vs tissue
How many mutations in CA5B 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 129 mutations in CA5B
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 |
|---|