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 | 463 | 112 | 346 |
| Samples | 432 | 102 | 325 |
| Peptides | 327 | 67 | 268 |
Function
DYTN · Dystrotelin
This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019].
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 |
|---|---|---|---|
| ENST00000452335 | A2CJ06 | 463 | 327 |
Gene Properties
Recurrent Mutations
All 327 amino-acid changes on canonical ENST00000452335 · 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 DYTN · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DYTN – 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 | 2/25 8% | 0/0 0% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Melanoma | 8/210 4% | 55/1899 3% |
| Non-Small Cell Lung Carcinoma | 18/304 6% | 29/1390 2% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Endometrial Carcinoma | 3/42 7% | 12/612 2% |
| Hodgkins Lymphoma | 3/16 19% | 0/122 0% |
| Squamous Cell Lung Carcinoma | 4/57 7% | 13/810 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Neuroendocrine Tumour | 10/154 6% | 3/577 1% |
| Colorectal Carcinoma | 11/143 8% | 46/3239 1% |
| Esophageal Carcinoma | 2/23 9% | 11/769 1% |
| Gastric Carcinoma | 1/74 1% | 29/1809 2% |
| Other Solid Cancers | 0/94 0% | 21/1515 1% |
| Bladder Carcinoma | 0/58 0% | 11/956 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 8/752 1% |
| Germ Cell Tumour | 1/25 4% | 1/169 1% |
| Osteosarcoma | 2/45 4% | 0/166 0% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Cervical Carcinoma | 0/35 0% | 3/422 1% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Glioma | 2/52 4% | 10/2127 0% |
| Head and Neck Carcinoma | 1/85 1% | 8/1574 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Hepatocellular Carcinoma | 2/46 4% | 10/2210 0% |
| Breast Carcinoma | 3/144 2% | 14/3264 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 11/2550 0% |
| Ovarian Carcinoma | 2/109 2% | 3/998 0% |
Mutation Distribution
Where DYTN is mutated · all tissues, split by cell line vs tissue
How many mutations in DYTN 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 15 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 463 mutations in DYTN
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 |
|---|