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 | 907 | 138 | 757 |
| Samples | 318 | 65 | 249 |
| Peptides | 229 | 44 | 194 |
Function
CHRNA2 · Cholinergic receptor nicotinic alpha 2 subunit
Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009].
Isoforms & Proteins
3 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 |
|---|---|---|---|
| ENST00000407991 | Q15822 | 333 | 216 |
| ENST00000240132 | Q15822-2 | 287 | 199 |
| ENST00000520933 | A0A0X1KG79* | 287 | 202 |
Gene Properties
Recurrent Mutations
All 216 amino-acid changes on canonical ENST00000407991 · 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 CHRNA2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHRNA2 – 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% |
| Chordoma | 1/7 14% | 0/13 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Endometrial Carcinoma | 1/42 2% | 16/612 3% |
| Hodgkins Lymphoma | 0/16 0% | 3/122 2% |
| Melanoma | 3/210 1% | 40/1899 2% |
| Colorectal Carcinoma | 10/143 7% | 51/3239 2% |
| Other Solid Cancers | 8/94 9% | 16/1515 1% |
| Gastric Carcinoma | 2/74 3% | 22/1809 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 10/1390 1% |
| Bladder Carcinoma | 0/58 0% | 9/956 1% |
| Cervical Carcinoma | 1/35 3% | 3/422 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Neuroendocrine Tumour | 4/154 3% | 2/577 0% |
| Ovarian Carcinoma | 4/109 4% | 4/998 0% |
| Esophageal Carcinoma | 1/23 4% | 4/769 1% |
| Ewings Sarcoma | 1/63 2% | 1/262 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 14/2550 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Head and Neck Carcinoma | 3/85 4% | 3/1574 0% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
| Non-Cancerous | 1/104 1% | 2/830 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 4/2534 0% |
| Hepatocellular Carcinoma | 0/46 0% | 6/2210 0% |
| Breast Carcinoma | 3/144 2% | 6/3264 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
Mutation Distribution
Where CHRNA2 is mutated · all tissues, split by cell line vs tissue
How many mutations in CHRNA2 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 50 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 907 mutations in CHRNA2
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 |
|---|