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 | 1,775 | 286 | 1,488 |
| Samples | 289 | 69 | 219 |
| Peptides | 245 | 46 | 204 |
Function
NDUFS1 · NADH:ubiquinone oxidoreductase core subunit S1
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011].
Isoforms & Proteins
7 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 225 amino-acid changes on canonical ENST00000233190 · 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 NDUFS1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NDUFS1 – 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% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 18/612 3% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 15/304 5% | 14/1390 1% |
| Germ Cell Tumour | 1/25 4% | 2/169 1% |
| Melanoma | 3/210 1% | 25/1899 1% |
| Colorectal Carcinoma | 11/143 8% | 28/3239 1% |
| Bladder Carcinoma | 0/58 0% | 10/956 1% |
| Gastric Carcinoma | 0/74 0% | 18/1809 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 8/810 1% |
| Neuroendocrine Tumour | 3/154 2% | 3/577 1% |
| Non-Cancerous | 2/104 2% | 5/830 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hepatocellular Carcinoma | 0/46 0% | 16/2210 1% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Thyroid Gland Carcinoma | 1/45 2% | 8/1592 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 8/2534 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Kidney Carcinoma | 1/85 1% | 7/1862 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Breast Carcinoma | 3/144 2% | 10/3264 0% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 7/2550 0% |
| Ewings Sarcoma | 1/63 2% | 0/262 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Other Solid Cancers | 0/94 0% | 4/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Glioma | 0/52 0% | 5/2127 0% |
Mutation Distribution
Where NDUFS1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NDUFS1 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 1,775 mutations in NDUFS1
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 |
|---|