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 | 361 | 54 | 303 |
| Samples | 342 | 52 | 286 |
| Peptides | 220 | 39 | 192 |
Function
CYP2A6 · Cytochrome P450 family 2 subfamily A member 6
This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008].
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 |
|---|---|---|---|
| ENST00000301141 | P11509 | 361 | 220 |
Gene Properties
Recurrent Mutations
All 220 amino-acid changes on canonical ENST00000301141 · 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 CYP2A6 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CYP2A6 – 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 |
|---|---|---|
| Acute Myeloid Leukemia | 7/90 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 14/612 2% |
| Cervical Carcinoma | 0/35 0% | 8/422 2% |
| Colorectal Carcinoma | 4/143 3% | 49/3239 2% |
| Melanoma | 4/210 2% | 29/1899 2% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Bladder Carcinoma | 3/58 5% | 11/956 1% |
| Mesothelioma | 2/62 3% | 1/165 1% |
| Gastric Carcinoma | 1/74 1% | 23/1809 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 10/810 1% |
| Other Solid Cancers | 0/94 0% | 18/1515 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 11/1390 1% |
| Other Sarcomas | 4/69 6% | 3/699 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 13/1592 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| Ovarian Carcinoma | 1/109 1% | 6/998 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 14/2550 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Kidney Carcinoma | 0/85 0% | 9/1862 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 8/2534 0% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Esophageal Carcinoma | 1/23 4% | 2/769 0% |
Mutation Distribution
Where CYP2A6 is mutated · all tissues, split by cell line vs tissue
How many mutations in CYP2A6 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 361 mutations in CYP2A6
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 |
|---|