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 | 346 | 60 | 283 |
| Samples | 327 | 59 | 265 |
| Peptides | 213 | 33 | 188 |
Function
CHRNB3 · Cholinergic receptor nicotinic beta 3 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 (hetero)pentamers composed of homologous subunits. The subunits that make up the muscle and neuronal forms of nAChRs are encoded by separate genes and have different primary structure. There are several subtypes of neuronal nAChRs that vary based on which homologous subunits are arranged around the central channel. They are classified as alpha-subunits if, like muscle alpha-1 (MIM 100690), they have a pair of adjacent cysteines as part of the presumed acetylcholine binding site. Subunits lacking these cysteine residues are classified as beta-subunits (Groot Kormelink and Luyten, 1997 [PubMed 9009220]). Elliott et al. (1996) [PubMed 8906617] stated that the proposed structure for each subunit is a conserved N-terminal extracellular domain followed by 3 conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region.[supplied by OMIM, Apr 2010].
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 |
|---|---|---|---|
| ENST00000289957 | Q05901 | 346 | 213 |
Gene Properties
Recurrent Mutations
All 213 amino-acid changes on canonical ENST00000289957 · 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 CHRNB3 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHRNB3 – 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% |
| Endometrial Carcinoma | 2/42 5% | 18/612 3% |
| Melanoma | 9/210 4% | 53/1899 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 13/810 2% |
| Other Solid Cancers | 3/94 3% | 26/1515 2% |
| Colorectal Carcinoma | 14/143 10% | 36/3239 1% |
| Gastric Carcinoma | 0/74 0% | 23/1809 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 11/1390 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Neuroendocrine Tumour | 5/154 3% | 1/577 0% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 13/2550 1% |
| Non-Cancerous | 2/104 2% | 4/830 0% |
| Ewings Sarcoma | 0/63 0% | 2/262 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Head and Neck Carcinoma | 1/85 1% | 6/1574 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Biliary Tract Carcinoma | 1/54 2% | 3/950 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Hepatocellular Carcinoma | 0/46 0% | 8/2210 0% |
| Pancreatic Carcinoma | 3/89 3% | 3/1611 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 3/2640 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
Mutation Distribution
Where CHRNB3 is mutated · all tissues, split by cell line vs tissue
How many mutations in CHRNB3 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 13 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 346 mutations in CHRNB3
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 |
|---|