Hs00915989_cn

• Gene Symbol: PGGHG
• Assay Reference Genome Location: Chr.11:292596 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 80162
• Gene Name: protein-glucosylgalactosylhydroxylysine glucosidase
• Gene Aliases: ATHL1
• Location: Chr.11:287760-295688 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PGGHG	NM_025092.4	6	1192	NP_079368.3
	XM_011520383.2	9	2118	XP_011518685.1
	XM_011520384.2	8	2229	XP_011518686.1
	XM_011520385.2	8	2232	XP_011518687.1
	XM_011520386.2	8	2232	XP_011518688.1
	XM_011520387.2	8	2232	XP_011518689.1
	XM_017018355.1	7	1570	XP_016873844.1
	AK026288.1	3	603	BAB15431.1
	AK074155.1	5	2058	BAB84981.1
	AK090428.1	2	588	BAC03409.1
	AK296137.1	2	71
	BC109257.2	3	591	AAI09258.1
	BC109258.2	3	591	AAI09259.1
	BP262327.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3891905	Chr.11:269147 - 336332 on Build GRCh38	Gain	NLRP6 IFITM1 IFITM5 PGGHG IFITM2 IFITM3
nsv516809	Chr.11:290233 - 295876 on Build GRCh38	Loss	PGGHG
nsv552765	Chr.11:199256 - 320836 on Build GRCh38	Gain	SIRT3 PSMD13 NLRP6 IFITM1 MIR6743 ODF3 RIC8A BET1L IFITM5 PGGHG IFITM2 IFITM3
esv989344	Chr.11:291680 - 292918 on Build GRCh38	Gain	PGGHG
dgv1505n54	Chr.11:198510 - 470331 on Build GRCh38	Gain	PSMD13 NLRP6 B4GALNT4 PKP3 ANO9 IFITM5 PGGHG IFITM2 SIRT3 IFITM1 MIR6743 ODF3 SIGIRR RIC8A BET1L PTDSS2 IFITM3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosidase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process

Function(s)

hydrolase activity
hydrolase activity, acting on glycosyl bonds