Hs01296849_cn

• Gene Symbol: DSE
• Assay Reference Genome Location: Chr.6:116277982 on build GRCh38
• Cytoband: 6q22.1

Target Gene Details

• Entrez Gene ID: 29940
• Gene Name: dermatan sulfate epimerase
• Gene Aliases: DS-epi1, DSEP, DSEPI, EDSMC2, SART-2, SART2
• Location: Chr.6:116254152-116441261 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DSE	NM_001322937.1			NP_001309866.1
	NM_001322938.1			NP_001309867.1
	NM_001322940.1			NP_001309869.1
	AK293872.1

Target Gene Details

• Entrez Gene ID: 7259
• Gene Name: TSPY like 1
• Gene Aliases: TSPYL
• Location: Chr.6:116274859-116280117 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TSPYL1	NM_003309.3	1	2136	NP_003300.1
	AJ420580.1
	AK026849.1	1	997
	AL136629.1	1	1947	CAB66564.1
	BC048969.1	1	1949	AAH48969.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3576211	Chr.6:116095308 - 116431057 on Build GRCh38	Gain	LOC100287467 FRK NT5DC1 TSPYL1 DSE TSPYL4 COL10A1
nsv523972	Chr.6:115958024 - 116809541 on Build GRCh38	Gain	FAM26F RSPH4A GPRC6A NT5DC1 TSPYL1 FAM162B TSPYL4 FAM26E COL10A1 LOC100287467 KPNA5 FRK TRAPPC3L ZUFSP RWDD1 DSE FAM26D TPI1P3

More Information

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

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein

Gene Ontology Categories:

Process(es)

heparan sulfate proteoglycan biosynthetic process
chondroitin sulfate biosynthetic process
dermatan sulfate biosynthetic process
nucleosome assembly
biological_process

Function(s)

chondroitin-glucuronate 5-epimerase activity
enzyme binding