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 | 337 | 64 | 258 |
| Samples | 316 | 64 | 240 |
| Peptides | 205 | 41 | 161 |
Function
CA9 · Carbonic anhydrase 9
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 IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014].
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 |
|---|---|---|---|
| ENST00000378357 | Q16790 | 337 | 205 |
Gene Properties
Recurrent Mutations
All 205 amino-acid changes on canonical ENST00000378357 · 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 CA9 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CA9 – 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% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Other Solid Cancers | 5/94 5% | 38/1515 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Endometrial Carcinoma | 2/42 5% | 11/612 2% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Melanoma | 5/210 2% | 24/1899 1% |
| Biliary Tract Carcinoma | 1/54 2% | 12/950 1% |
| Neuroendocrine Tumour | 8/154 5% | 1/577 0% |
| Colorectal Carcinoma | 5/143 4% | 33/3239 1% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 14/1390 1% |
| Non-Cancerous | 1/104 1% | 8/830 1% |
| Gastric Carcinoma | 4/74 5% | 12/1809 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 5/810 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 11/1592 1% |
| Ovarian Carcinoma | 1/109 1% | 7/998 1% |
| Hepatocellular Carcinoma | 0/46 0% | 14/2210 1% |
| Bladder Carcinoma | 1/58 2% | 5/956 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 12/2550 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Head and Neck Carcinoma | 4/85 5% | 2/1574 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Breast Carcinoma | 3/144 2% | 7/3264 0% |
| Prostate Carcinoma | 4/13 31% | 2/2105 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Kidney Carcinoma | 1/85 1% | 4/1862 0% |
Mutation Distribution
Where CA9 is mutated · all tissues, split by cell line vs tissue
How many mutations in CA9 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 53 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 337 mutations in CA9
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 |
|---|