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 | 944 | 96 | 710 |
| Samples | 263 | 45 | 182 |
| Peptides | 175 | 31 | 146 |
Function
NDUFV1 · NADH:ubiquinone oxidoreductase core subunit V1
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009].
Isoforms & Proteins
5 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 164 amino-acid changes on canonical ENST00000322776 · 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 NDUFV1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NDUFV1 – 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 | 3/40 8% | 0/0 0% |
| Biliary Tract Carcinoma | 1/54 2% | 37/950 4% |
| Endometrial Carcinoma | 4/42 10% | 15/612 2% |
| Burkitts Lymphoma | 0/32 0% | 5/196 3% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Melanoma | 1/210 0% | 22/1899 1% |
| Colorectal Carcinoma | 3/143 2% | 34/3239 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Other Solid Cancers | 3/94 3% | 12/1515 1% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 7/810 1% |
| Adrenocortical Carcinoma | 0/3 0% | 1/112 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Bladder Carcinoma | 2/58 3% | 5/956 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Non-Cancerous | 3/104 3% | 2/830 0% |
| Head and Neck Carcinoma | 1/85 1% | 7/1574 0% |
| Gastric Carcinoma | 0/74 0% | 9/1809 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Glioma | 0/52 0% | 9/2127 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Other Sarcomas | 0/69 0% | 3/699 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 8/2550 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 5/1390 0% |
| Breast Carcinoma | 3/144 2% | 7/3264 0% |
| Neuroblastoma | 3/87 3% | 1/1331 0% |
| B-Cell Non-Hodgkins Lymphoma | 5/88 6% | 2/2534 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 4/1592 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
Mutation Distribution
Where NDUFV1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NDUFV1 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 944 mutations in NDUFV1
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 |
|---|