Hs04740797_cn

• Gene Symbol: NGLY1
• Assay Reference Genome Location: Chr.3:25720648 on build GRCh38
• Cytoband: 3p24.2

Target Gene Details

• Entrez Gene ID: 55768
• Gene Name: N-glycanase 1
• Gene Aliases: CDDG, CDG1V, PNG1, PNGase
• Location: Chr.3:25718944-25790039 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NGLY1	NM_001145293.1			NP_001138765.1
	NM_001145294.1			NP_001138766.1
	NM_001145295.1			NP_001138767.1
	NM_018297.3			NP_060767.2
	XM_005265316.1			XP_005265373.1
	XM_005265317.1			XP_005265374.1
	XM_011533944.1			XP_011532246.1
	AB209549.1			BAD92786.1
	AF250924.2			AAF74720.2
	AK001867.1			BAA91950.1
	AK296047.1
	AK310473.1
	AL832748.1
	BC000963.2			AAH00963.1
	BC007226.1			AAH07226.1
	BC017220.2			AAH17220.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893676	Chr.3:24984204 - 26577498 on Build GRCh38	Loss	NGLY1 TOP2B OXSM LOC105376997 RARB LINC00692 MIR4442

More Information

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

Panther Classification:

Molecular Function -

hydrolase

Gene Ontology Categories:

Process(es)

glycoprotein catabolic process

Function(s)

peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity
protein binding
metal ion binding