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 | 13,437 | 1,799 | 11,518 |
| Samples | 2,741 | 532 | 2,175 |
| Peptides | 2,987 | 516 | 2,488 |
Function
DST · Dystonin
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010].
Isoforms & Proteins
8 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 |
|---|---|---|---|
| ENST00000361203 | F8W9J4* | 2,764 | 2,195 |
| ENST00000312431 | F6QMI7* | 2,260 | 1,760 |
| ENST00000421834 | E9PHM6* | 2,208 | 1,720 |
| ENST00000370788 | Q03001-14 | 2,152 | 1,683 |
| ENST00000244364 | Q03001-8 | 2,114 | 1,643 |
| ENST00000370765 | Q03001-3 | 1,094 | 866 |
| ENST00000518935 | F6XPT2* | 507 | 387 |
| ENST00000680361 | A0A7P0T890* | 338 | 319 |
Gene Properties
Recurrent Mutations
All 1683 amino-acid changes on canonical ENST00000370788 · 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 DST · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DST – 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 | 7/25 28% | 0/0 0% |
| Oral Cavity Carcinoma | 15/54 28% | 0/0 0% |
| T-Lymphoblastic Leukemia | 11/40 28% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 5/26 19% | 0/0 0% |
| Endometrial Carcinoma | 21/42 50% | 95/612 16% |
| Non-Small Cell Lung Carcinoma | 65/304 21% | 165/1390 12% |
| Melanoma | 39/210 19% | 208/1899 11% |
| Acute Myeloid Leukemia | 10/90 11% | 0/0 0% |
| Cervical Carcinoma | 5/35 14% | 38/422 9% |
| Glioblastoma | 9/98 9% | 0/0 0% |
| Colorectal Carcinoma | 43/143 30% | 266/3239 8% |
| Squamous Cell Lung Carcinoma | 12/57 21% | 67/810 8% |
| Bladder Carcinoma | 5/58 9% | 82/956 9% |
| Gastric Carcinoma | 20/74 27% | 135/1809 7% |
| Other Solid Cancers | 13/94 14% | 89/1515 6% |
| Plasma Cell Myeloma | 9/44 20% | 12/305 4% |
| Ovarian Carcinoma | 12/109 11% | 54/998 5% |
| Neuroendocrine Tumour | 24/154 16% | 19/577 3% |
| Hepatocellular Carcinoma | 5/46 11% | 120/2210 5% |
| Esophageal Squamous Cell Carcinoma | 16/51 31% | 126/2550 5% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Unknown | 0/10 0% | 2/29 7% |
| Hodgkins Lymphoma | 4/16 25% | 3/122 2% |
| Head and Neck Carcinoma | 10/85 12% | 74/1574 5% |
| Chordoma | 1/7 14% | 0/13 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 35/752 5% |
| Chondrosarcoma | 4/14 29% | 0/75 0% |
| Biliary Tract Carcinoma | 2/54 4% | 43/950 5% |
| Kidney Carcinoma | 11/85 13% | 72/1862 4% |
| Esophageal Carcinoma | 3/23 13% | 30/769 4% |
Mutation Distribution
Where DST is mutated · all tissues, split by cell line vs tissue
How many mutations in DST 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 13,437 mutations in DST
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 |
|---|