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 | 325 | 55 | 265 |
| Samples | 306 | 51 | 251 |
| Peptides | 221 | 31 | 192 |
Function
ATP6V1A · ATPase H+ transporting V1 subunit A
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
2 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 221 amino-acid changes on canonical ENST00000273398 · 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 ATP6V1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ATP6V1A – 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% |
| Endometrial Carcinoma | 6/42 14% | 13/612 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 14/810 2% |
| Melanoma | 1/210 0% | 31/1899 2% |
| Cervical Carcinoma | 1/35 3% | 5/422 1% |
| Bladder Carcinoma | 1/58 2% | 12/956 1% |
| Colorectal Carcinoma | 4/143 3% | 34/3239 1% |
| Neuroendocrine Tumour | 8/154 5% | 0/577 0% |
| Non-Small Cell Lung Carcinoma | 3/304 1% | 13/1390 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 5/752 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 12/1592 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Gastric Carcinoma | 3/74 4% | 10/1809 1% |
| Hepatocellular Carcinoma | 1/46 2% | 14/2210 1% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 14/2550 1% |
| Head and Neck Carcinoma | 1/85 1% | 9/1574 1% |
| Non-Cancerous | 1/104 1% | 4/830 0% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Other Solid Cancers | 0/94 0% | 8/1515 1% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Ovarian Carcinoma | 1/109 1% | 4/998 0% |
| Breast Carcinoma | 3/144 2% | 12/3264 0% |
| Prostate Carcinoma | 2/13 15% | 5/2105 0% |
| Other Blood Cancers | 1/61 2% | 8/2725 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Biliary Tract Carcinoma | 0/54 0% | 3/950 0% |
Mutation Distribution
Where ATP6V1A is mutated · all tissues, split by cell line vs tissue
How many mutations in ATP6V1A 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 325 mutations in ATP6V1A
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 |
|---|