CHRNA1

Cholinergic receptor nicotinic alpha 1 subunit P02708 ACHA_HUMAN
Protein Coding Chr 2 2q31.1 Swiss-Prot reviewed Entrez 1134
Mutations
1,521
CL 180 · Tissue 1,330
Samples
356
CL 56 · Tissue 295
Peptides
303
unique mutant peptides
Transcripts
6
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations1,5211801,330
Samples35656295
Peptides30349268

Function

CHRNA1 · Cholinergic receptor nicotinic alpha 1 subunit

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012].

Isoforms & Proteins

6 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000348749 P02708 391 236
ENST00000261007 P02708-1 377 238
ENST00000409542 B8ZZD3* 283 177
ENST00000409219 E7ENE5* 272 175
ENST00000409323 G5E9G9* 193 120
ENST00000636168 A0A1B0GV17* 5 4

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q31.1
Entrez ID
Aliases
ACHRAACHRDCHRNACMS1ACMS1BCMS2A

Recurrent Mutations

All 236 amino-acid changes on canonical ENST00000348749 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 CHRNA1 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CHRNA1 – 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 typeCell linesTissue samples
Oral Cavity Carcinoma
2/54 4%
0/0 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Endometrial Carcinoma
0/42 0%
14/612 2%
Non-Small Cell Lung Carcinoma
9/304 3%
27/1390 2%
Other Solid Cancers
3/94 3%
29/1515 2%
Melanoma
1/210 0%
40/1899 2%
Colorectal Carcinoma
10/143 7%
42/3239 1%
Squamous Cell Lung Carcinoma
2/57 4%
11/810 1%
Gastric Carcinoma
4/74 5%
24/1809 1%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Plasma Cell Myeloma
4/44 9%
0/305 0%
Mesothelioma
1/62 2%
1/165 1%
Esophageal Carcinoma
0/23 0%
7/769 1%
Neuroendocrine Tumour
2/154 1%
4/577 1%
Glioma
0/52 0%
15/2127 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Hepatocellular Carcinoma
0/46 0%
13/2210 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Esophageal Squamous Cell Carcinoma
4/51 8%
9/2550 0%
Prostate Carcinoma
0/13 0%
10/2105 0%
Breast Carcinoma
1/144 1%
14/3264 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Neuroblastoma
2/87 2%
3/1331 0%
Pancreatic Carcinoma
1/89 1%
5/1611 0%
Kidney Carcinoma
1/85 1%
5/1862 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Other Sarcomas
0/69 0%
2/699 0%
Head and Neck Carcinoma
2/85 2%
2/1574 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%

Mutation Distribution

Where CHRNA1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CHRNA1 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 48 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

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 1,521 mutations in CHRNA1

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide