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 | 268 | 46 | 219 |
| Samples | 261 | 46 | 212 |
| Peptides | 186 | 30 | 163 |
Function
GJA1 · Gap junction protein alpha 1
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014].
Isoforms & Proteins
2 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.
Gene Properties
Recurrent Mutations
All 185 amino-acid changes on canonical ENST00000282561 · 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 GJA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GJA1 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Melanoma | 1/210 0% | 46/1899 2% |
| Endometrial Carcinoma | 2/42 5% | 12/612 2% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 15/1390 1% |
| Gastric Carcinoma | 3/74 4% | 17/1809 1% |
| Colorectal Carcinoma | 4/143 3% | 31/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Neuroendocrine Tumour | 4/154 3% | 3/577 1% |
| Esophageal Carcinoma | 3/23 13% | 4/769 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 7/810 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Bladder Carcinoma | 0/58 0% | 6/956 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Glioma | 2/52 4% | 10/2127 0% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Ovarian Carcinoma | 1/109 1% | 3/998 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Neuroblastoma | 0/87 0% | 4/1331 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 4/2640 0% |
| Breast Carcinoma | 1/144 1% | 8/3264 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 4/2534 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Prostate Carcinoma | 1/13 8% | 3/2105 0% |
| Kidney Carcinoma | 1/85 1% | 2/1862 0% |
Mutation Distribution
Where GJA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in GJA1 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 268 mutations in GJA1
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 |
|---|