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 | 826 | 106 | 707 |
| Samples | 218 | 41 | 173 |
| Peptides | 176 | 32 | 152 |
Function
ATP5F1A · ATP synthase F1 subunit alpha
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012].
Isoforms & Proteins
4 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 168 amino-acid changes on canonical ENST00000398752 · 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 ATP5F1A · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ATP5F1A – 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% |
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Hodgkins Lymphoma | 3/16 19% | 0/122 0% |
| Endometrial Carcinoma | 3/42 7% | 10/612 2% |
| Bladder Carcinoma | 0/58 0% | 12/956 1% |
| Colorectal Carcinoma | 14/143 10% | 25/3239 1% |
| Melanoma | 5/210 2% | 19/1899 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Gastric Carcinoma | 0/74 0% | 16/1809 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 6/810 1% |
| Non-Cancerous | 0/104 0% | 7/830 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 8/1592 0% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Hepatocellular Carcinoma | 0/46 0% | 10/2210 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Esophageal Squamous Cell Carcinoma | 1/51 2% | 8/2550 0% |
| Other Blood Cancers | 0/61 0% | 8/2725 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Breast Carcinoma | 1/144 1% | 7/3264 0% |
| Kidney Carcinoma | 0/85 0% | 4/1862 0% |
| Ovarian Carcinoma | 0/109 0% | 2/998 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 3/1390 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Glioma | 0/52 0% | 3/2127 0% |
Mutation Distribution
Where ATP5F1A is mutated · all tissues, split by cell line vs tissue
How many mutations in ATP5F1A 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.
Mutations
All 826 mutations in ATP5F1A
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 |
|---|