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 | 237 | 38 | 193 |
| Samples | 96 | 20 | 74 |
| Peptides | 88 | 16 | 71 |
Function
ITPA · Inosine triphosphatase
This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012].
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 73 amino-acid changes on canonical ENST00000380113 · 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 ITPA · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ITPA – 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 | 1/40 2% | 0/0 0% |
| Meningioma | 0/3 0% | 4/252 2% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Endometrial Carcinoma | 3/42 7% | 4/612 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Ovarian Carcinoma | 1/109 1% | 5/998 0% |
| Colorectal Carcinoma | 1/143 1% | 15/3239 0% |
| Melanoma | 2/210 1% | 7/1899 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 2/1390 0% |
| Gastric Carcinoma | 1/74 1% | 4/1809 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 1/810 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Glioma | 1/52 2% | 3/2127 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 0/2534 0% |
| Other Blood Cancers | 0/61 0% | 2/2725 0% |
| Neuroblastoma | 0/87 0% | 1/1331 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
| Breast Carcinoma | 0/144 0% | 2/3264 0% |
| Prostate Carcinoma | 1/13 8% | 0/2105 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 1/2640 0% |
Mutation Distribution
Where ITPA is mutated · all tissues, split by cell line vs tissue
How many mutations in ITPA 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 237 mutations in ITPA
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 |
|---|