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 | 280 | 202 | 78 |
| Samples | 265 | 190 | 75 |
| Peptides | 127 | 76 | 63 |
Function
MT-ND1 · NADH dehydrogenase subunit 1
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrial membrane. Part of mitochondrial respiratory chain complex I. Implicated in several diseases, including MELAS syndrome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis. [provided by Alliance of Genome Resources, Apr 2022]
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 |
|---|---|---|---|
| ENST00000361390 | P03886 | 280 | 127 |
Gene Properties
Recurrent Mutations
All 127 amino-acid changes on canonical ENST00000361390 · 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 MT-ND1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MT-ND1 – 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 |
|---|---|---|
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 12/612 2% |
| Hodgkins Lymphoma | 3/16 19% | 0/122 0% |
| Plasma Cell Myeloma | 6/44 14% | 0/305 0% |
| Neuroendocrine Tumour | 12/154 8% | 0/577 0% |
| Mesothelioma | 3/62 5% | 0/165 0% |
| Non-Small Cell Lung Carcinoma | 11/304 4% | 11/1390 1% |
| Non-Cancerous | 8/104 8% | 2/830 0% |
| Biliary Tract Carcinoma | 7/54 13% | 3/950 0% |
| Burkitts Lymphoma | 2/32 6% | 0/196 0% |
| Esophageal Carcinoma | 3/23 13% | 4/769 1% |
| Melanoma | 7/210 3% | 10/1899 1% |
| Other Solid Cancers | 6/94 6% | 6/1515 0% |
| Kidney Carcinoma | 5/85 6% | 6/1862 0% |
| Ovarian Carcinoma | 6/109 6% | 0/998 0% |
| Head and Neck Carcinoma | 9/85 11% | 0/1574 0% |
| Pancreatic Carcinoma | 9/89 10% | 0/1611 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Thyroid Gland Carcinoma | 5/45 11% | 3/1592 0% |
| Rhabdomyosarcoma | 1/33 3% | 0/171 0% |
| Cervical Carcinoma | 2/35 6% | 0/422 0% |
| Gastric Carcinoma | 8/74 11% | 0/1809 0% |
| Colorectal Carcinoma | 4/143 3% | 10/3239 0% |
| Bladder Carcinoma | 4/58 7% | 0/956 0% |
| Other Sarcomas | 2/69 3% | 1/699 0% |
Mutation Distribution
Where MT-ND1 is mutated · all tissues, split by cell line vs tissue
How many mutations in MT-ND1 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 280 mutations in MT-ND1
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 |
|---|