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 | 850 | 137 | 691 |
| Samples | 716 | 123 | 587 |
| Peptides | 560 | 90 | 480 |
Function
DSG1 · Desmoglein 1
This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, 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 desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015].
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 |
|---|---|---|---|
| ENST00000257192 | Q02413 | 850 | 560 |
Gene Properties
Recurrent Mutations
All 560 amino-acid changes on canonical ENST00000257192 · 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 DSG1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DSG1 – 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 | 7/40 18% | 0/0 0% |
| Melanoma | 19/210 9% | 186/1899 10% |
| Endometrial Carcinoma | 7/42 17% | 29/612 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 19/304 6% | 46/1390 3% |
| Squamous Cell Lung Carcinoma | 5/57 9% | 26/810 3% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 4/133 3% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Bladder Carcinoma | 0/58 0% | 19/956 2% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Neuroendocrine Tumour | 12/154 8% | 1/577 0% |
| Colorectal Carcinoma | 10/143 7% | 48/3239 1% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Ovarian Carcinoma | 5/109 5% | 12/998 1% |
| Gastric Carcinoma | 2/74 3% | 26/1809 1% |
| Other Solid Cancers | 2/94 2% | 21/1515 1% |
| Other Sarcomas | 5/69 7% | 6/699 1% |
| Osteosarcoma | 3/45 7% | 0/166 0% |
| Non-Cancerous | 2/104 2% | 11/830 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 9/752 1% |
| Plasma Cell Myeloma | 1/44 2% | 3/305 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Glioma | 1/52 2% | 21/2127 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| B-Cell Non-Hodgkins Lymphoma | 3/88 3% | 19/2534 1% |
| Biliary Tract Carcinoma | 1/54 2% | 7/950 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 19/2550 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Head and Neck Carcinoma | 0/85 0% | 10/1574 1% |
Mutation Distribution
Where DSG1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DSG1 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 850 mutations in DSG1
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 |
|---|