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 | 45 | 5 | 38 |
| Samples | 44 | 5 | 37 |
| Peptides | 35 | 4 | 30 |
Function
NDUFA4 · Cytochrome c oxidase subunit FA4
Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix (PubMed:22902835). COXFA4 is required for complex IV maintenance (PubMed:22902835)
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 |
|---|---|---|---|
| ENST00000339600 | O00483 | 45 | 35 |
Gene Properties
Recurrent Mutations
All 35 amino-acid changes on canonical ENST00000339600 · 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 NDUFA4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NDUFA4 – 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 |
|---|---|---|
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Endometrial Carcinoma | 0/42 0% | 5/612 1% |
| Mesothelioma | 1/62 2% | 0/165 0% |
| Cervical Carcinoma | 1/35 3% | 1/422 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| Colorectal Carcinoma | 0/143 0% | 7/3239 0% |
| Ovarian Carcinoma | 2/109 2% | 0/998 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 2/1390 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 2/1592 0% |
| Gastric Carcinoma | 0/74 0% | 2/1809 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Hepatocellular Carcinoma | 0/46 0% | 2/2210 0% |
| Melanoma | 0/210 0% | 2/1899 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Other Solid Cancers | 0/94 0% | 1/1515 0% |
| Breast Carcinoma | 1/144 1% | 0/3264 0% |
Mutation Distribution
Where NDUFA4 is mutated · all tissues, split by cell line vs tissue
How many mutations in NDUFA4 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 45 mutations in NDUFA4
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 |
|---|