Hs04950501_cn

• Gene Symbol: PON1
• Assay Reference Genome Location: Chr.7:95310384 on build GRCh38
• Cytoband: 7q21.3

Target Gene Details

• Entrez Gene ID: 5444
• Gene Name: paraoxonase 1
• Gene Aliases: ESA, MVCD5, PON
• Location: Chr.7:95298357-95324572 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PON1	NM_000446.5			NP_000437.3
	AK314027.1
	BC074719.2			AAH74719.1
	CB122285.1
	D84371.1			BAA12327.1
	M63012.1			AAB59538.1
	M63013.1			AAA60142.1
	M63014.1			AAA60143.1
	S64615.1			AAB27714.2
	U53784.1			AAA97957.1
	Z70723.1			CAA94728.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1023193	Chr.7:93602376 - 95828660 on Build GRCh38	Gain	PON2 PON3 PDK4 LOC105375405 SGCE PEG10 CASD1 ASB4 COL1A2 PPP1R9A GNGT1 PON1 LOC105375401 DYNC1I1 MIR4652 BET1 TFPI2 GNG11
nsv5851	Chr.7:95308446 - 95339854 on Build GRCh38	Deletion	PON1

More Information

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

Gene Ontology Categories:

Process(es)

cholesterol metabolic process
response to external stimulus
response to toxic substance
positive regulation of cholesterol efflux
dephosphorylation
aromatic compound catabolic process
response to nutrient levels
positive regulation of transporter activity
negative regulation of plasma lipoprotein particle oxidation
carboxylic acid catabolic process
organophosphate catabolic process
phosphatidylcholine metabolic process
positive regulation of binding
response to fatty acid
response to fluoride

Function(s)

aryldialkylphosphatase activity
arylesterase activity
calcium ion binding
phospholipid binding
protein homodimerization activity
acyl-L-homoserine-lactone lactonohydrolase activity