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 | 498 | 79 | 412 |
| Samples | 256 | 58 | 192 |
| Peptides | 213 | 41 | 173 |
Function
DLAT · Dihydrolipoamide S-acetyltransferase
This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009].
Isoforms & Proteins
3 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 199 amino-acid changes on canonical ENST00000280346 · 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 DLAT · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DLAT – 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% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Hodgkins Lymphoma | 2/16 12% | 2/122 2% |
| Unknown | 1/10 10% | 0/29 0% |
| Endometrial Carcinoma | 2/42 5% | 11/612 2% |
| Melanoma | 4/210 2% | 29/1899 2% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Bladder Carcinoma | 0/58 0% | 8/956 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 13/1592 1% |
| Colorectal Carcinoma | 7/143 5% | 19/3239 1% |
| Other Solid Cancers | 1/94 1% | 11/1515 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 10/1390 1% |
| Gastric Carcinoma | 2/74 3% | 11/1809 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 5/810 1% |
| Head and Neck Carcinoma | 1/85 1% | 10/1574 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| B-Cell Non-Hodgkins Lymphoma | 8/88 9% | 5/2534 0% |
| Burkitts Lymphoma | 0/32 0% | 1/196 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 7/2550 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
| Breast Carcinoma | 5/144 3% | 5/3264 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Prostate Carcinoma | 0/13 0% | 6/2105 0% |
| Glioma | 1/52 2% | 5/2127 0% |
Mutation Distribution
Where DLAT is mutated · all tissues, split by cell line vs tissue
How many mutations in DLAT 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 498 mutations in DLAT
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 |
|---|