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 | 763 | 42 | 711 |
| Samples | 203 | 21 | 177 |
| Peptides | 201 | 19 | 179 |
Function
PDHA1 · Pyruvate dehydrogenase E1 subunit alpha 1
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010].
Isoforms & Proteins
5 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 150 amino-acid changes on canonical ENST00000422285 · 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 PDHA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PDHA1 – 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 |
|---|---|---|
| Endometrial Carcinoma | 1/42 2% | 20/612 3% |
| Cervical Carcinoma | 0/35 0% | 7/422 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 10/956 1% |
| Colorectal Carcinoma | 5/143 4% | 28/3239 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Melanoma | 0/210 0% | 18/1899 1% |
| Biliary Tract Carcinoma | 1/54 2% | 6/950 1% |
| Non-Small Cell Lung Carcinoma | 1/304 0% | 10/1390 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 4/810 0% |
| Other Sarcomas | 2/69 3% | 2/699 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 9/2210 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Gastric Carcinoma | 2/74 3% | 5/1809 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 8/2534 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Breast Carcinoma | 0/144 0% | 7/3264 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Neuroblastoma | 1/87 1% | 1/1331 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 0/2640 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Other Blood Cancers | 0/61 0% | 1/2725 0% |
Mutation Distribution
Where PDHA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in PDHA1 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 763 mutations in PDHA1
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 |
|---|