Hs03672618_cn

• Gene Symbol: HGSNAT
• Assay Reference Genome Location: Chr.8:43143940 on build GRCh38
• Cytoband: 8p11.21

Target Gene Details

• Entrez Gene ID: 138050
• Gene Name: heparan-alpha-glucosaminide N-acetyltransferase
• Gene Aliases: HGNAT, MPS3C, RP73, TMEM76
• Location: Chr.8:43140449-43202827 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HGSNAT	NM_152419.2			NP_689632.2
	XM_005273409.1			XP_005273466.1
	XM_005273410.1			XP_005273467.1
	XM_005273411.1			XP_005273468.1
	XM_005273412.3			XP_005273469.1
	XM_017013088.1			XP_016868577.1
	XM_017013089.1			XP_016868578.1
	AK304441.1
	BC042037.1			AAH42037.1
	DA395558.1
	DB128369.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3617026	Chr.8:43085930 - 43251904 on Build GRCh38	Gain	HGSNAT POMK
dgv7187n100	Chr.8:43081800 - 43968893 on Build GRCh38	Gain	POTEA FNTA HGSNAT POMK
esv3891387	Chr.8:42998571 - 43918067 on Build GRCh38	Gain	HOOK3 POTEA FNTA HGSNAT POMK
nsv470208	Chr.8:43082465 - 43936548 on Build GRCh38	Gain	POTEA FNTA HGSNAT POMK
nsv831302	Chr.8:43054340 - 43250377 on Build GRCh38	Loss	FNTA HGSNAT POMK
nsv1032781	Chr.8:42917251 - 43606341 on Build GRCh38	Gain	HOOK3 POTEA FNTA HGSNAT POMK

More Information

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

Gene Ontology Categories:

Process(es)

glycosaminoglycan catabolic process
lysosomal transport
protein oligomerization

Function(s)

heparan-alpha-glucosaminide N-acetyltransferase activity
transferase activity, transferring acyl groups