Hs01402264_cn

• Gene Symbol: ETNPPL
• Assay Reference Genome Location: Chr.4:108750955 on build GRCh38
• Cytoband: 4q25

Target Gene Details

• Entrez Gene ID: 64850
• Gene Name: ethanolamine-phosphate phospho-lyase
• Gene Aliases: AGXT2L1
• Location: Chr.4:108742040-108763180 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ETNPPL	NM_001146590.1			NP_001140062.1
	NM_001146627.1			NP_001140099.1
	NM_031279.3			NP_112569.2
	NR_027474.1
	NR_027475.1
	XM_006714290.2			XP_006714353.1
	AJ298293.1			CAC22253.1
	AK091888.1			BAC03766.1
	AK294072.1
	AK294235.1
	BC022526.1			AAH22526.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv519226	Chr.4:108739559 - 108766158 on Build GRCh38	Loss	ETNPPL
nsv1000660	Chr.4:108730447 - 108787621 on Build GRCh38	Gain	ETNPPL
nsv830034	Chr.4:108736535 - 108898569 on Build GRCh38	Loss	ETNPPL COL25A1

More Information

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

Gene Ontology Categories:

Process(es)

phosphatidylethanolamine biosynthetic process

Function(s)

transaminase activity
pyridoxal phosphate binding
identical protein binding
ethanolamine-phosphate phospho-lyase activity