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 | 609 | 111 | 494 |
| Samples | 558 | 102 | 452 |
| Peptides | 384 | 66 | 343 |
Function
GABRA4 · Gamma-aminobutyric acid type A receptor subunit alpha4
Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011].
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 |
|---|---|---|---|
| ENST00000264318 | P48169 | 609 | 384 |
Gene Properties
Recurrent Mutations
All 384 amino-acid changes on canonical ENST00000264318 · 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 GABRA4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GABRA4 – 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 | 2/26 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 29/612 5% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 54/1390 4% |
| Melanoma | 4/210 2% | 62/1899 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 19/810 2% |
| Neuroendocrine Tumour | 11/154 7% | 6/577 1% |
| Other Solid Cancers | 4/94 4% | 31/1515 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 20/956 2% |
| Colorectal Carcinoma | 9/143 6% | 43/3239 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 11/752 1% |
| Esophageal Carcinoma | 0/23 0% | 10/769 1% |
| Other Sarcomas | 6/69 9% | 3/699 0% |
| Gastric Carcinoma | 1/74 1% | 20/1809 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Glioma | 1/52 2% | 17/2127 1% |
| Ovarian Carcinoma | 1/109 1% | 8/998 1% |
| Biliary Tract Carcinoma | 2/54 4% | 6/950 1% |
| Head and Neck Carcinoma | 3/85 4% | 10/1574 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hepatocellular Carcinoma | 1/46 2% | 16/2210 1% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 17/2550 1% |
| Breast Carcinoma | 4/144 3% | 18/3264 1% |
| Prostate Carcinoma | 3/13 23% | 9/2105 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Pancreatic Carcinoma | 1/89 1% | 7/1611 0% |
Mutation Distribution
Where GABRA4 is mutated · all tissues, split by cell line vs tissue
How many mutations in GABRA4 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 51 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 609 mutations in GABRA4
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 |
|---|