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 | 354 | 64 | 283 |
| Samples | 119 | 29 | 87 |
| Peptides | 114 | 24 | 91 |
Function
MDH1 · Malate dehydrogenase 1
This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016].
Isoforms & Proteins
6 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 91 amino-acid changes on canonical ENST00000233114 · 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 MDH1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MDH1 – 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 | 2/25 8% | 0/0 0% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 11/612 2% |
| Melanoma | 3/210 1% | 18/1899 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 7/1390 0% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Colorectal Carcinoma | 3/143 2% | 9/3239 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroendocrine Tumour | 2/154 1% | 0/577 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Hepatocellular Carcinoma | 0/46 0% | 5/2210 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Gastric Carcinoma | 0/74 0% | 3/1809 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Neuroblastoma | 1/87 1% | 1/1331 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Pancreatic Carcinoma | 2/89 2% | 0/1611 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 3/2550 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 1/2640 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 0/2534 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Glioma | 0/52 0% | 2/2127 0% |
| Breast Carcinoma | 0/144 0% | 2/3264 0% |
| Other Solid Cancers | 0/94 0% | 1/1515 0% |
Mutation Distribution
Where MDH1 is mutated · all tissues, split by cell line vs tissue
How many mutations in MDH1 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 354 mutations in MDH1
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 |
|---|