Hs05580446_cn

• Gene Symbol: PNPLA3
• Assay Reference Genome Location: Chr.22:43928741 on build GRCh38
• Cytoband: 22q13.31

Target Gene Details

• Entrez Gene ID: 80339
• Gene Name: patatin like phospholipase domain containing 3
• Gene Aliases: ADPN, C22orf20, iPLA(2)epsilon
• Location: Chr.22:43923739-43947568 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PNPLA3	NM_025225.2			NP_079501.2
	AK025665.1
	AK123806.1
	AK315166.1
	AL138578.2			CAB71238.2
	BC065195.1			AAH65195.1
	CR456476.1			CAG30362.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834219	Chr.22:43853996 - 44012877 on Build GRCh38	Gain	PNPLA5 SULT4A1 PARVB SAMM50 PNPLA3
esv3310025	Chr.22:43928710 - 43928711 on Build GRCh38	Mobile Element Insertion	PNPLA3
nsv1055831	Chr.22:43878234 - 43932651 on Build GRCh38	Gain	PNPLA5 PNPLA3
esv3305617	Chr.22:43928706 - 43928707 on Build GRCh38	Mobile Element Insertion	PNPLA3
nsv528458	Chr.22:43927090 - 43946236 on Build GRCh38	Gain	PNPLA3
nsv829265	Chr.22:43828073 - 43928999 on Build GRCh38	Loss	PNPLA5 LOC105373057 SULT4A1 PNPLA3
nsv1056412	Chr.22:43928224 - 43974659 on Build GRCh38	Gain	SAMM50 PNPLA3
nsv513592	Chr.22:43927308 - 43928728 on Build GRCh38	Insertion	PNPLA3
nsv834218	Chr.22:43800912 - 43982015 on Build GRCh38	Loss	PNPLA5 LOC105373057 SULT4A1 EFCAB6 SAMM50 PNPLA3

More Information

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

Panther Classification:

Molecular Function -

phospholipase

Gene Ontology Categories:

Process(es)

triglyceride biosynthetic process
triglyceride catabolic process
triglyceride acyl-chain remodeling
acylglycerol acyl-chain remodeling
lipid homeostasis

Function(s)

lipoprotein lipase activity
phospholipase A2 activity
triglyceride lipase activity
acylglycerol O-acyltransferase activity
mono-olein transacylation activity
diolein transacylation activity