Hs01326781_cn

• Gene Symbol: NGLY1
• Assay Reference Genome Location: Chr.3:25719564 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 Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NGLY1	NM_001145293.1	12	1915	NP_001138765.1
	NM_001145294.1	12	1909	NP_001138766.1
	NM_001145295.1	11	1791	NP_001138767.1
	NM_018297.3	12	1969	NP_060767.2
	XM_005265316.1	11	1749	XP_005265373.1
	XM_005265317.1	10	1571	XP_005265374.1
	XM_011533944.1	12	1865	XP_011532246.1
	AB114414.1	2	347
	AB209549.1	4	2911	BAD92786.1
	AF250924.2	12	1902	AAF74720.2
	AK001867.1	10	1570	BAA91950.1
	AK296047.1	12	1876
	AK310473.1	11	2764
	AL832748.1	3	1668
	BC000963.2	12	1798	AAH00963.1
	BC007226.1	12	1902	AAH07226.1
	BC017220.2	11	1718	AAH17220.1
	BQ017148.1	1	638

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	OXSM TOP2B MIR4442 LINC00692 NGLY1 LOC105376997 RARB

More Information

• Set Membership: Intragenic, 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