GABRA3

Gamma-aminobutyric acid type A receptor subunit alpha3 P34903 GBRA3_HUMAN
Protein Coding Chr X Xq28 Swiss-Prot reviewed Entrez 2556
Mutations
894
CL 107 · Tissue 778
Samples
440
CL 71 · Tissue 364
Peptides
272
unique mutant peptides
Transcripts
2
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
Mutations894107778
Samples44071364
Peptides27245238

Function

GABRA3 · Gamma-aminobutyric acid type A receptor subunit alpha3

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. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

2 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
ENST00000370314 P34903 470 272
ENST00000535043 P34903 424 260

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xq28
Entrez ID
Aliases
EPILX2

Recurrent Mutations

All 272 amino-acid changes on canonical ENST00000370314 · 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 GABRA3 · 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 GABRA3 – 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
Melanoma
18/210 9%
109/1899 6%
Glioblastoma
4/98 4%
0/0 0%
Endometrial Carcinoma
4/42 10%
20/612 3%
Non-Small Cell Lung Carcinoma
8/304 3%
29/1390 2%
Hodgkins Lymphoma
0/16 0%
3/122 2%
Rhabdomyosarcoma
2/33 6%
2/171 1%
Gastric Carcinoma
1/74 1%
30/1809 2%
Colorectal Carcinoma
10/143 7%
44/3239 1%
Other Solid Cancers
2/94 2%
16/1515 1%
Neuroendocrine Tumour
6/154 4%
1/577 0%
Squamous Cell Lung Carcinoma
0/57 0%
8/810 1%
Esophageal Carcinoma
2/23 9%
4/769 1%
Thyroid Gland Carcinoma
0/45 0%
11/1592 1%
Ovarian Carcinoma
4/109 4%
3/998 0%
Head and Neck Carcinoma
1/85 1%
9/1574 1%
Glioma
1/52 2%
9/2127 0%
Breast Carcinoma
4/144 3%
11/3264 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Hepatocellular Carcinoma
0/46 0%
8/2210 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
6/2534 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Pancreatic Carcinoma
0/89 0%
5/1611 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
7/2550 0%
Kidney Carcinoma
0/85 0%
5/1862 0%
Other Sarcomas
0/69 0%
2/699 0%
Prostate Carcinoma
2/13 15%
3/2105 0%
B-Lymphoblastic Leukemia
0/55 0%
6/2640 0%
Cervical Carcinoma
0/35 0%
1/422 0%

Mutation Distribution

Where GABRA3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in GABRA3 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 31 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 894 mutations in GABRA3

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