Hs04000295_cn

• Gene Symbol: DSG3
• Assay Reference Genome Location: Chr.18:31453326 on build GRCh38
• Cytoband: 18q12.1

Target Gene Details

• Entrez Gene ID: 1830
• Gene Name: desmoglein 3
• Gene Aliases: CDHF6, PVA
• Location: Chr.18:31447769-31478702 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DSG3	NM_001944.2			NP_001935.2
	XM_011525850.1			XP_011524152.1
	AK290367.1
	DA458544.1
	M76482.1			AAA60230.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv438278	Chr.18:31453177 - 31454341 on Build GRCh38	Loss	DSG3
esv2656541	Chr.18:31452541 - 31454012 on Build GRCh38	Deletion	DSG3
nsv437177	Chr.18:31449805 - 31459320 on Build GRCh38	Loss	DSG3
dgv3328n100	Chr.18:31385807 - 31473928 on Build GRCh38	Gain	DSG3 DSG1-AS1 DSG4
esv3642128	Chr.18:31452459 - 31454052 on Build GRCh38	Loss	DSG3
dgv975e212	Chr.18:31385113 - 31471686 on Build GRCh38	Gain	DSG3 DSG1-AS1 DSG4
esv2751776	Chr.18:31390184 - 31477756 on Build GRCh38	Gain	DSG3 DSG1-AS1 DSG4
nsv524890	Chr.18:31387447 - 31476502 on Build GRCh38	Gain	DSG3 DSG1-AS1 DSG4
nsv833615	Chr.18:31428433 - 31613013 on Build GRCh38	Gain	DSG3 DSG2 DSG2-AS1 TTR
dgv5882n54	Chr.18:31389081 - 31476502 on Build GRCh38	Gain	DSG3 DSG1-AS1 DSG4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

homophilic cell adhesion via plasma membrane adhesion molecules

Function(s)

calcium ion binding