Hs05712761_cn

• Gene Symbol: NPL
• Assay Reference Genome Location: Chr.1:182799999 on build GRCh38
• Cytoband: 1q25.3

Target Gene Details

• Entrez Gene ID: 80896
• Gene Name: N-acetylneuraminate pyruvate lyase
• Gene Aliases: C112, C1orf13, NAL, NPL1
• Location: Chr.1:182789449-182830384 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
NPL	NM_001200050.1			NP_001186979.1
	NM_001200051.1			NP_001186980.1
	NM_001200052.1			NP_001186981.1
	NM_001200056.1			NP_001186985.1
	NM_030769.2			NP_110396.1
	AF338436.1			AAK25795.1
	AK297017.1
	AK301068.1
	AK313225.1
	AL525867.3
	AY336748.1			AAQ82432.1
	BC058003.1			AAH58003.1
	BC125051.1
	CB961482.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv548358	Chr.1:182110851 - 183151893 on Build GRCh38	Gain	RNASEL SHCBP1L NPL LOC647070 LOC105371644 RGS8 DHX9 LAMC1 LINC01344 LOC284648 ZNF648 LINC00272 RGS16 GLUL TEDDM1 RGSL1

More Information

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

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
N-acetylneuraminate catabolic process

Function(s)

protein binding
N-acetylneuraminate lyase activity