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 | 1,023 | 178 | 830 |
| Samples | 873 | 160 | 698 |
| Peptides | 656 | 105 | 572 |
Function
ATP13A5 · ATPase 13A5
This gene encodes a member of the P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and other substrates across cell membranes. P5 ATPases are localized to membranes of the endoplasmic reticulum (ER) and serve many important functions including transport of cargo proteins to the Golgi, glycosylation and cell wall biosynthesis, control of protein insertion orientation, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) degradation, and sensitivity to unfolded protein response (UPR) activators. The encoded protein is organized into three cytoplasmic domains (A, P, and N) and two membrane-embedded domains (T and S). The N-domain binds ATP and serves as a built-in protein kinase, which phosphorylates the P-domain. The A-domain is an intrinsic protein phosphatase, which dephosphorylates the P-domain once during each catalytic cycle. [provided by RefSeq, Jul 2017].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000342358 | Q4VNC0 | 1,023 | 656 |
Gene Properties
Recurrent Mutations
All 656 amino-acid changes on canonical ENST00000342358 · 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 ATP13A5 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ATP13A5 – 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 | 9/40 22% | 0/0 0% |
| Oral Cavity Carcinoma | 6/54 11% | 0/0 0% |
| Melanoma | 29/210 14% | 163/1899 9% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 30/612 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Other Solid Cancers | 5/94 5% | 52/1515 3% |
| Plasma Cell Myeloma | 8/44 18% | 3/305 1% |
| Colorectal Carcinoma | 21/143 15% | 66/3239 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 21/810 3% |
| Bladder Carcinoma | 7/58 12% | 18/956 2% |
| Esophageal Squamous Cell Carcinoma | 5/51 10% | 57/2550 2% |
| Non-Small Cell Lung Carcinoma | 12/304 4% | 28/1390 2% |
| Gastric Carcinoma | 2/74 3% | 36/1809 2% |
| Hepatocellular Carcinoma | 2/46 4% | 42/2210 2% |
| Cervical Carcinoma | 2/35 6% | 6/422 1% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Non-Cancerous | 1/104 1% | 13/830 2% |
| Biliary Tract Carcinoma | 0/54 0% | 15/950 2% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
| Ovarian Carcinoma | 7/109 6% | 9/998 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 11/752 1% |
| Head and Neck Carcinoma | 1/85 1% | 22/1574 1% |
| Neuroendocrine Tumour | 7/154 5% | 3/577 1% |
| Esophageal Carcinoma | 2/23 9% | 6/769 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Ewings Sarcoma | 1/63 2% | 2/262 1% |
| Other Sarcomas | 1/69 1% | 6/699 1% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
Mutation Distribution
Where ATP13A5 is mutated · all tissues, split by cell line vs tissue
How many mutations in ATP13A5 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 40 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 1,023 mutations in ATP13A5
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 |
|---|