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 | 1,092 | 176 | 910 |
| Samples | 551 | 117 | 430 |
| Peptides | 389 | 66 | 336 |
Function
DSC2 · Desmocollin 2
This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015].
Isoforms & Proteins
2 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.
Gene Properties
Recurrent Mutations
All 380 amino-acid changes on canonical ENST00000280904 · 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 DSC2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DSC2 – 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 |
|---|---|---|
| Chordoma | 3/7 43% | 0/13 0% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Melanoma | 20/210 10% | 135/1899 7% |
| Endometrial Carcinoma | 6/42 14% | 21/612 3% |
| Oral Cavity Carcinoma | 2/54 4% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 3/122 2% |
| Rhabdomyosarcoma | 2/33 6% | 5/171 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Unknown | 1/10 10% | 0/29 0% |
| Neuroendocrine Tumour | 9/154 6% | 7/577 1% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 23/1390 2% |
| Burkitts Lymphoma | 2/32 6% | 2/196 1% |
| Gastric Carcinoma | 3/74 4% | 27/1809 1% |
| Plasma Cell Myeloma | 3/44 7% | 2/305 1% |
| Colorectal Carcinoma | 11/143 8% | 31/3239 1% |
| Other Solid Cancers | 4/94 4% | 14/1515 1% |
| Cervical Carcinoma | 2/35 6% | 3/422 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 8/752 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Glioma | 0/52 0% | 20/2127 1% |
| Bladder Carcinoma | 4/58 7% | 5/956 1% |
| Ovarian Carcinoma | 3/109 3% | 6/998 1% |
| Hepatocellular Carcinoma | 2/46 4% | 16/2210 1% |
| Other Sarcomas | 1/69 1% | 5/699 1% |
| Head and Neck Carcinoma | 0/85 0% | 12/1574 1% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 16/2534 1% |
| Neuroblastoma | 4/87 5% | 6/1331 0% |
| Biliary Tract Carcinoma | 0/54 0% | 6/950 1% |
Mutation Distribution
Where DSC2 is mutated · all tissues, split by cell line vs tissue
How many mutations in DSC2 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 1,092 mutations in DSC2
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 |
|---|