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 | 984 | 161 | 806 |
| Samples | 223 | 50 | 170 |
| Peptides | 198 | 35 | 178 |
Function
CHRNA7 · Cholinergic receptor nicotinic alpha 7 subunit
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit 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. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012].
Isoforms & Proteins
6 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 |
|---|---|---|---|
| ENST00000306901 | P36544 | 177 | 128 |
| ENST00000454250 | P36544-2 | 175 | 132 |
| ENST00000635884 | A0A1B0GTT9* | 170 | 110 |
| ENST00000636603 | A0A1B0GVH2* | 155 | 116 |
| ENST00000637033 | A0A1B0GVH2* | 155 | 116 |
| ENST00000637183 | A0A1B0GV43* | 152 | 113 |
Gene Properties
Recurrent Mutations
All 128 amino-acid changes on canonical ENST00000306901 · 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 CHRNA7 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHRNA7 – 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-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 18/612 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 10/1390 1% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 8/810 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 7/752 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 13/1592 1% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Melanoma | 2/210 1% | 13/1899 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Other Solid Cancers | 1/94 1% | 8/1515 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Colorectal Carcinoma | 3/143 2% | 13/3239 0% |
| Ovarian Carcinoma | 0/109 0% | 5/998 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Neuroendocrine Tumour | 1/154 1% | 2/577 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Other Sarcomas | 1/69 1% | 2/699 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Head and Neck Carcinoma | 1/85 1% | 5/1574 0% |
Mutation Distribution
Where CHRNA7 is mutated · all tissues, split by cell line vs tissue
How many mutations in CHRNA7 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 984 mutations in CHRNA7
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 |
|---|