Hs06818942_cn

• Gene Symbol: DSE
• Assay Reference Genome Location: Chr.6:116254961 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 Exon 2

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
	NR_136520.1	2	354
	AK093256.1	2	233
	AK293872.1
	BX489961.1

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	DSE TSPYL1 TSPYL4 FRK LOC100287467 NT5DC1 COL10A1
nsv523972	Chr.6:115958024 - 116809541 on Build GRCh38	Gain	DSE ZUFSP TSPYL1 TSPYL4 TRAPPC3L FAM26E FRK LOC100287467 NT5DC1 GPRC6A KPNA5 FAM26F FAM26D RWDD1 RSPH4A FAM162B COL10A1 TPI1P3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

heparan sulfate proteoglycan biosynthetic process
chondroitin sulfate biosynthetic process
dermatan sulfate biosynthetic process

Function(s)

chondroitin-glucuronate 5-epimerase activity