Hs06144946_cn

• Gene Symbol: DSE
• Assay Reference Genome Location: Chr.6:116280738 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 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DSE	NM_001080976.2			NP_001074445.1
	NM_001322937.1			NP_001309866.1
	NM_001322938.1			NP_001309867.1
	NM_001322940.1			NP_001309869.1
	NR_136521.1
	NR_136522.1
	NR_136523.1
	NR_136524.1
	XM_017010795.1			XP_016866284.1
	AK095123.1
	AK293872.1
	BC039245.1			AAH39245.1
	BX110619.1
	DC333659.1
	HY012067.1
	HY050986.1

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

More Information

• Set Membership: Intragenic, Intronic, Non-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