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 | 3,502 | 74 | 3,402 |
| Samples | 1,172 | 43 | 1,121 |
| Peptides | 155 | 23 | 138 |
Function
IDH1 · Isocitrate dehydrogenase (NADP(+)) 1
Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013].
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 155 amino-acid changes on canonical ENST00000345146 · 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 IDH1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in IDH1 – 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 |
|---|---|---|
| Chondrosarcoma | 4/14 29% | 39/75 52% |
| Glioma | 1/52 2% | 641/2127 30% |
| Biliary Tract Carcinoma | 4/54 7% | 60/950 6% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Melanoma | 5/210 2% | 61/1899 3% |
| Other Blood Cancers | 1/61 2% | 85/2725 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 18/956 2% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Endometrial Carcinoma | 0/42 0% | 9/612 1% |
| Colorectal Carcinoma | 11/143 8% | 30/3239 1% |
| Hepatocellular Carcinoma | 0/46 0% | 27/2210 1% |
| Gastric Carcinoma | 0/74 0% | 20/1809 1% |
| Prostate Carcinoma | 0/13 0% | 20/2105 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 7/810 1% |
| Other Sarcomas | 2/69 3% | 5/699 1% |
| Neuroendocrine Tumour | 0/154 0% | 6/577 1% |
| Other Solid Cancers | 0/94 0% | 13/1515 1% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 11/1390 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Ovarian Carcinoma | 1/109 1% | 7/998 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| Head and Neck Carcinoma | 0/85 0% | 11/1574 1% |
| Plasma Cell Myeloma | 0/44 0% | 2/305 1% |
| Breast Carcinoma | 0/144 0% | 16/3264 0% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
Mutation Distribution
Where IDH1 is mutated · all tissues, split by cell line vs tissue
How many mutations in IDH1 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 3,502 mutations in IDH1
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 |
|---|