Hs00235683_cn

• Gene Symbol: PNPLA5
• Assay Reference Genome Location: Chr.22:43881549 on build GRCh38
• Cytoband: 22q13.31

Target Gene Details

• Entrez Gene ID: 150379
• Gene Name: patatin like phospholipase domain containing 5
• Gene Aliases: GS2L, dJ388M5, dJ388M5.4
• Location: Chr.22:43879678-43892013 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PNPLA5	NM_001177675.1			NP_001171146.1
	NM_138814.3			NP_620169.1
	XM_011529959.2			XP_011528261.1
	AK056648.1
	AK127172.1			BAC86866.1
	BC031820.2
	BC104839.1			AAI04840.1
	BC104843.1			AAI04844.1

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	SAMM50 SULT4A1 PNPLA3 PNPLA5 PARVB
nsv1055831	Chr.22:43878234 - 43932651 on Build GRCh38	Gain	PNPLA3 PNPLA5
nsv829265	Chr.22:43828073 - 43928999 on Build GRCh38	Loss	LOC105373057 SULT4A1 PNPLA3 PNPLA5
nsv834218	Chr.22:43800912 - 43982015 on Build GRCh38	Loss	SAMM50 EFCAB6 LOC105373057 SULT4A1 PNPLA3 PNPLA5
nsv834217	Chr.22:43745292 - 43920182 on Build GRCh38	Gain	EFCAB6 LOC105373057 SULT4A1 PNPLA5

More Information

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

Panther Classification:

Molecular Function -

phospholipase

Gene Ontology Categories:

Process(es)

triglyceride catabolic process
cellular lipid metabolic process
lipid homeostasis

Function(s)

triglyceride lipase activity