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 | 353 | 45 | 302 |
| Samples | 216 | 33 | 179 |
| Peptides | 187 | 23 | 165 |
Function
PDHX · Pyruvate dehydrogenase complex component X
The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor 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 eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000227868 | O00330 | 234 | 170 |
| ENST00000430469 | O00330-2 | 115 | 80 |
| ENST00000448838 | A0A8C8MSB2* | 4 | 4 |
Gene Properties
Recurrent Mutations
All 170 amino-acid changes on canonical ENST00000227868 · 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 PDHX · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in PDHX – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| Endometrial Carcinoma | 1/42 2% | 17/612 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Melanoma | 1/210 0% | 29/1899 2% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Colorectal Carcinoma | 2/143 1% | 28/3239 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Gastric Carcinoma | 0/74 0% | 15/1809 1% |
| Head and Neck Carcinoma | 4/85 5% | 7/1574 0% |
| Other Sarcomas | 2/69 3% | 3/699 0% |
| Non-Cancerous | 0/104 0% | 6/830 1% |
| Neuroendocrine Tumour | 4/154 3% | 0/577 0% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 3/1390 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Glioma | 0/52 0% | 9/2127 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Bladder Carcinoma | 0/58 0% | 4/956 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Other Solid Cancers | 0/94 0% | 6/1515 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 3/810 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 6/2550 0% |
| Ovarian Carcinoma | 1/109 1% | 2/998 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Breast Carcinoma | 0/144 0% | 8/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 3/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
Mutation Distribution
Where PDHX is mutated · all tissues, split by cell line vs tissue
How many mutations in PDHX 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 353 mutations in PDHX
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 |
|---|