Hs07089340_cn

• Gene Symbol: GNPNAT1
• Assay Reference Genome Location: Chr.14:52787312 on build GRCh38
• Cytoband: 14q22.1

Target Gene Details

• Entrez Gene ID: 64841
• Gene Name: glucosamine-phosphate N-acetyltransferase 1
• Gene Aliases: GNA1, GNPNAT, Gpnat1
• Location: Chr.14:52775193-52791668 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNPNAT1	NM_198066.3			NP_932332.1
	XM_005268012.2			XP_005268069.1
	XM_006720238.3			XP_006720301.1
	AK090577.1			BAC03482.1
	BC012179.1			AAH12179.1
	BG717628.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv7884	Chr.14:52785633 - 52788584 on Build GRCh38	Loss	GNPNAT1
nsv819339	Chr.14:52785718 - 52788066 on Build GRCh38	Loss	GNPNAT1
nsv832796	Chr.14:52680158 - 52860182 on Build GRCh38	Loss	ERO1A FERMT2 GNPNAT1 STYX PSMC6
nsv826956	Chr.14:52785859 - 52788244 on Build GRCh38	Loss	GNPNAT1
nsv1050582	Chr.14:52773715 - 52861657 on Build GRCh38	Gain	FERMT2 GNPNAT1 STYX
esv2677927	Chr.14:52785748 - 52788361 on Build GRCh38	Deletion	GNPNAT1
nsv1279	Chr.14:52754853 - 52788471 on Build GRCh38	Insertion	GNPNAT1 STYX
nsv470647	Chr.14:52730993 - 52831559 on Build GRCh38	Gain	GNPNAT1 STYX
esv2748720	Chr.14:52785733 - 52788459 on Build GRCh38	Deletion	GNPNAT1

More Information

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

Panther Classification:

Molecular Function -

acetyltransferase

Gene Ontology Categories:

Process(es)

liver development
glucosamine metabolic process
N-acetylglucosamine metabolic process
UDP-N-acetylglucosamine biosynthetic process

Function(s)

glucosamine 6-phosphate N-acetyltransferase activity
identical protein binding
monosaccharide binding