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 | 989 | 118 | 854 |
| Samples | 302 | 54 | 243 |
| Peptides | 270 | 47 | 231 |
Function
GABRD · Gamma-aminobutyric acid type A receptor subunit delta
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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000378585 | O14764 | 276 | 194 |
| ENST00000640067 | A0A1W2PQR3* | 250 | 187 |
| ENST00000638771 | A0A1W2PRC4* | 234 | 176 |
| ENST00000640949 | A0A1W2PRY7* | 229 | 168 |
Gene Properties
Recurrent Mutations
All 194 amino-acid changes on canonical ENST00000378585 · 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 GABRD · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GABRD – 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-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 8/42 19% | 12/612 2% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 18/1390 1% |
| Melanoma | 3/210 1% | 28/1899 1% |
| Gastric Carcinoma | 2/74 3% | 24/1809 1% |
| Colorectal Carcinoma | 4/143 3% | 41/3239 1% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 6/810 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Biliary Tract Carcinoma | 2/54 4% | 7/950 1% |
| Neuroendocrine Tumour | 4/154 3% | 2/577 0% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Bladder Carcinoma | 1/58 2% | 7/956 1% |
| Head and Neck Carcinoma | 0/85 0% | 12/1574 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Glioma | 0/52 0% | 13/2127 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Pancreatic Carcinoma | 1/89 1% | 7/1611 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Kidney Carcinoma | 2/85 2% | 4/1862 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 5/2550 0% |
| Other Blood Cancers | 0/61 0% | 8/2725 0% |
| Prostate Carcinoma | 0/13 0% | 5/2105 0% |
Mutation Distribution
Where GABRD is mutated · all tissues, split by cell line vs tissue
How many mutations in GABRD 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 989 mutations in GABRD
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 |
|---|