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 | 788 | 92 | 581 |
| Samples | 147 | 35 | 103 |
| Peptides | 135 | 22 | 102 |
Function
GAPDH · Glyceraldehyde-3-phosphate dehydrogenase
This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014].
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 127 amino-acid changes on canonical ENST00000229239 · 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 GAPDH · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in GAPDH – 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% |
| Plasma Cell Myeloma | 2/44 5% | 3/305 1% |
| Mesothelioma | 2/62 3% | 1/165 1% |
| Endometrial Carcinoma | 3/42 7% | 5/612 1% |
| Melanoma | 6/210 3% | 18/1899 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 9/1390 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Gastric Carcinoma | 0/74 0% | 11/1809 1% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Colorectal Carcinoma | 6/143 4% | 10/3239 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 6/1592 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 5/2550 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Breast Carcinoma | 2/144 1% | 4/3264 0% |
| Pancreatic Carcinoma | 0/89 0% | 3/1611 0% |
| Neuroblastoma | 0/87 0% | 2/1331 0% |
| Other Solid Cancers | 0/94 0% | 2/1515 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Kidney Carcinoma | 1/85 1% | 1/1862 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 0/2640 0% |
Mutation Distribution
Where GAPDH is mutated · all tissues, split by cell line vs tissue
How many mutations in GAPDH 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 788 mutations in GAPDH
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 |
|---|