Hs03471610_cn

• Gene Symbol: NGLY1
• Assay Reference Genome Location: Chr.3:25787284 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NGLY1	NM_001145294.1			NP_001138766.1
	AK296047.1
	DC329733.1

Target Gene Details

• Entrez Gene ID: 54995
• Gene Name: 3-oxoacyl-ACP synthase, mitochondrial
• Gene Aliases: FASN2D, KASI, KS
• Location: Chr.3:25783661-25794534 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OXSM	XM_006713216.3	1	3624	XP_006713279.1
	XM_006713217.3	1	3624	XP_006713280.1
	XM_017006713.1	1	3624	XP_016862202.1
	XM_017006714.1	1	3624	XP_016862203.1

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	MIR4442 LINC00692 OXSM NGLY1 TOP2B LOC105376997 RARB
dgv71n17	Chr.3:25786051 - 25816479 on Build GRCh38	Loss	OXSM NGLY1

More Information

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

Panther Classification:

Molecular Function -

hydrolase

Gene Ontology Categories:

Process(es)

glycoprotein catabolic process
acyl-CoA metabolic process
short-chain fatty acid biosynthetic process
medium-chain fatty acid biosynthetic process

Function(s)

peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity
protein binding
metal ion binding
3-oxoacyl-[acyl-carrier-protein] synthase activity