Hs02202313_cn

• Gene Symbol: PNPLA4
• Assay Reference Genome Location: Chr.X:7902134 on build GRCh38
• Cytoband: Xp22.31

Target Gene Details

• Entrez Gene ID: 8228
• Gene Name: patatin like phospholipase domain containing 4
• Gene Aliases: DXS1283E, GS2, iPLA2eta
• Location: Chr.X:7898763-7928587 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PNPLA4	NM_001142389.1			NP_001135861.1
	NM_001172672.1			NP_001166143.1
	NM_004650.2			NP_004641.1
	XM_011545588.1			XP_011543890.1
	AK289888.1
	AK304586.1
	BC020746.1			AAH20746.1
	BM850121.1
	U03886.1			AAA16491.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2752335	Chr.X:7862723 - 8469952 on Build GRCh38	Gain	PNPLA4 MIR651 VCX2 VCX3B
nsv470340	Chr.X:7857284 - 8463464 on Build GRCh38	Gain	PNPLA4 MIR651 VCX2
dgv499n21	Chr.X:7777235 - 8383635 on Build GRCh38	Gain	PNPLA4 VCX MIR651 VCX2
esv3576759	Chr.X:7742804 - 8254647 on Build GRCh38	Gain	PNPLA4 VCX MIR651 VCX2
esv3576758	Chr.X:7596710 - 8167603 on Build GRCh38	Gain	PNPLA4 VCX MIR651
esv2422194	Chr.X:7481793 - 8034821 on Build GRCh38	Duplication	PNPLA4 VCX
nsv6786	Chr.X:7886158 - 7916141 on Build GRCh38	Insertion	PNPLA4
dgv1n30	Chr.X:7824572 - 8147412 on Build GRCh38	Gain	PNPLA4 VCX MIR651

More Information

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

Panther Classification:

Molecular Function -

hydrolase, lipase, phospholipase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

biological_process
triglyceride catabolic process
retinol metabolic process
cellular lipid metabolic process
lipid homeostasis

Function(s)

molecular_function
triglyceride lipase activity
retinyl-palmitate esterase activity