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 | 900 | 106 | 776 |
| Samples | 147 | 27 | 118 |
| Peptides | 134 | 27 | 114 |
Function
DMAC2 · Distal membrane arm assembly component 2
Involved in mitochondrial respiratory chain complex I assembly. Colocalizes with mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022]
Isoforms & Proteins
9 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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000221943 | Q9NW81 | 146 | 96 |
| ENST00000417807 | Q9NW81-4 | 134 | 90 |
| ENST00000592922 | Q9NW81-5 | 128 | 86 |
| ENST00000595425 | M0QZC4* | 96 | 62 |
| ENST00000590641 | B4DFT4* | 95 | 61 |
| ENST00000589970 | Q9NW81-6 | 83 | 55 |
| ENST00000301183 | Q9NW81-3 | 82 | 54 |
| ENST00000438807 | Q9NW81-2 | 75 | 49 |
| ENST00000597457 | M0R078* | 61 | 39 |
Gene Properties
Recurrent Mutations
All 96 amino-acid changes on canonical ENST00000221943 · 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 DMAC2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DMAC2 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Endometrial Carcinoma | 1/42 2% | 6/612 1% |
| Bladder Carcinoma | 3/58 5% | 6/956 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Colorectal Carcinoma | 2/143 1% | 21/3239 1% |
| Gastric Carcinoma | 2/74 3% | 10/1809 1% |
| Melanoma | 0/210 0% | 12/1899 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Neuroendocrine Tumour | 4/154 3% | 0/577 0% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 5/1390 0% |
| Thyroid Gland Carcinoma | 1/45 2% | 7/1592 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 3/752 0% |
| Prostate Carcinoma | 2/13 15% | 5/2105 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Head and Neck Carcinoma | 0/85 0% | 4/1574 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Breast Carcinoma | 4/144 3% | 3/3264 0% |
| Biliary Tract Carcinoma | 0/54 0% | 2/950 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 5/2534 0% |
| Other Solid Cancers | 0/94 0% | 3/1515 0% |
| Hepatocellular Carcinoma | 0/46 0% | 4/2210 0% |
| Glioma | 0/52 0% | 3/2127 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Kidney Carcinoma | 0/85 0% | 2/1862 0% |
| Ovarian Carcinoma | 1/109 1% | 0/998 0% |
| Other Blood Cancers | 0/61 0% | 2/2725 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
Mutation Distribution
Where DMAC2 is mutated · all tissues, split by cell line vs tissue
How many mutations in DMAC2 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 900 mutations in DMAC2
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 |
|---|