DSG3

Desmoglein 3 P32926 DSG3_HUMAN
Protein Coding Chr 18 18q12.1 Swiss-Prot reviewed Entrez 1830
Mutations
822
CL 131 · Tissue 684
Samples
717
CL 120 · Tissue 590
Peptides
546
unique mutant peptides
Transcripts
1
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations822131684
Samples717120590
Peptides54679479

Function

DSG3 · Desmoglein 3

This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016].

Isoforms & Proteins

1 transcript · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000257189 P32926 822 546

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18q12.1
Entrez ID
Aliases
ABOLMCDHF6PVA

Recurrent Mutations

All 546 amino-acid changes on canonical ENST00000257189 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 DSG3 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DSG3 – 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 typeCell linesTissue samples
Melanoma
16/210 8%
189/1899 10%
Oral Cavity Carcinoma
5/54 9%
0/0 0%
Endometrial Carcinoma
2/42 5%
33/612 5%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Non-Small Cell Lung Carcinoma
17/304 6%
57/1390 4%
Hodgkins Lymphoma
1/16 6%
4/122 3%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Glioblastoma
3/98 3%
0/0 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Cervical Carcinoma
2/35 6%
9/422 2%
Neuroendocrine Tumour
8/154 5%
7/577 1%
Squamous Cell Lung Carcinoma
3/57 5%
14/810 2%
Colorectal Carcinoma
12/143 8%
51/3239 2%
Small Cell Lung Carcinoma
3/9 33%
11/752 1%
Gastric Carcinoma
2/74 3%
26/1809 1%
Glioma
3/52 6%
29/2127 1%
Bladder Carcinoma
1/58 2%
11/956 1%
Other Solid Cancers
0/94 0%
17/1515 1%
Ovarian Carcinoma
1/109 1%
10/998 1%
Hepatocellular Carcinoma
3/46 7%
19/2210 1%
Burkitts Lymphoma
2/32 6%
0/196 0%
Plasma Cell Myeloma
0/44 0%
3/305 1%
Other Sarcomas
4/69 6%
2/699 0%
Head and Neck Carcinoma
2/85 2%
10/1574 1%
Biliary Tract Carcinoma
0/54 0%
7/950 1%
B-Cell Non-Hodgkins Lymphoma
4/88 5%
13/2534 1%
Ewings Sarcoma
1/63 2%
1/262 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
16/2550 1%
Breast Carcinoma
5/144 3%
13/3264 0%
Germ Cell Tumour
0/25 0%
1/169 1%

Mutation Distribution

Where DSG3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in DSG3 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

GTEx Portal ↗
About the expression data
GTEx Expression

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 822 mutations in DSG3

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide