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 | 2,031 | 277 | 1,730 |
| Samples | 212 | 46 | 159 |
| Peptides | 180 | 35 | 146 |
Function
DMTN · Dematin actin binding protein
The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014].
Isoforms & Proteins
12 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 |
|---|---|---|---|
| ENST00000358242 | Q08495 | 215 | 159 |
| ENST00000265800 | Q08495 | 189 | 147 |
| ENST00000432128 | Q08495 | 189 | 147 |
| ENST00000517305 | Q08495 | 189 | 147 |
| ENST00000523266 | Q08495 | 189 | 147 |
| ENST00000381470 | Q08495-2 | 182 | 141 |
| ENST00000415253 | Q08495-2 | 182 | 141 |
| ENST00000519907 | Q08495-2 | 182 | 141 |
| ENST00000443491 | Q08495-3 | 172 | 133 |
| ENST00000523782 | Q08495-3 | 172 | 133 |
| ENST00000517600 | Q08495-4 | 169 | 132 |
| ENST00000519850 | E5RJ61* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 159 amino-acid changes on canonical ENST00000358242 · 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 DMTN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DMTN – 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 | 2/40 5% | 0/0 0% |
| Melanoma | 8/210 4% | 28/1899 1% |
| Endometrial Carcinoma | 0/42 0% | 10/612 2% |
| Other Solid Cancers | 1/94 1% | 16/1515 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Gastric Carcinoma | 1/74 1% | 17/1809 1% |
| Non-Small Cell Lung Carcinoma | 5/304 2% | 11/1390 1% |
| Ewings Sarcoma | 3/63 5% | 0/262 0% |
| Bladder Carcinoma | 2/58 3% | 6/956 1% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Colorectal Carcinoma | 10/143 7% | 13/3239 0% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Germ Cell Tumour | 0/25 0% | 1/169 1% |
| Biliary Tract Carcinoma | 0/54 0% | 5/950 1% |
| Thyroid Gland Carcinoma | 0/45 0% | 7/1592 0% |
| Neuroendocrine Tumour | 0/154 0% | 3/577 1% |
| Ovarian Carcinoma | 2/109 2% | 2/998 0% |
| Hepatocellular Carcinoma | 0/46 0% | 7/2210 0% |
| Head and Neck Carcinoma | 1/85 1% | 4/1574 0% |
| Glioma | 1/52 2% | 5/2127 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 4/2550 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 2/752 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Kidney Carcinoma | 2/85 2% | 2/1862 0% |
| Non-Cancerous | 0/104 0% | 2/830 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 3/2534 0% |
| Breast Carcinoma | 0/144 0% | 3/3264 0% |
| Prostate Carcinoma | 0/13 0% | 2/2105 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
Mutation Distribution
Where DMTN is mutated · all tissues, split by cell line vs tissue
How many mutations in DMTN 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 2,031 mutations in DMTN
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 |
|---|