Hs03692802_cn

• Gene Symbol: AGPAT5
• Assay Reference Genome Location: Chr.8:6717420 on build GRCh38
• Cytoband: 8p23.1

Target Gene Details

• Entrez Gene ID: 55326
• Gene Name: 1-acylglycerol-3-phosphate O-acyltransferase 5
• Gene Aliases: 1AGPAT5, LPAATE
• Location: Chr.8:6708357-6761503 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AGPAT5	NM_018361.3			NP_060831.2
	XM_011534751.2			XP_011533053.1
	AF375789.1			AAK54809.1
	AK002072.1			BAA92069.1
	AK310545.1
	AL136587.1			CAB66522.1
	BC023550.2			AAH23550.1
	BC068519.1			AAH68519.1
	BC080537.1			AAH80537.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1021684	Chr.8:6492570 - 6951933 on Build GRCh38	Loss	DEFB1 DEFA6 MIR8055 DEFA4 AGPAT5 ANGPT2 XKR5 MIR4659B MIR4659A GS1-24F4.2 DEFA8P MCPH1 MCPH1-AS1
nsv610004	Chr.8:6544845 - 6915391 on Build GRCh38	Gain	DEFB1 AGPAT5 ANGPT2 XKR5 MIR4659B MIR4659A GS1-24F4.2 MCPH1 MIR8055 MCPH1-AS1
nsv1025976	Chr.8:6615427 - 6829450 on Build GRCh38	Loss	AGPAT5 XKR5 MIR4659B MIR4659A MCPH1 MIR8055 MCPH1-AS1
nsv6059	Chr.8:6693878 - 6726740 on Build GRCh38	Insertion	AGPAT5 MCPH1-AS1
esv2422383	Chr.8:6504868 - 6924071 on Build GRCh38	Duplication	DEFB1 AGPAT5 ANGPT2 XKR5 MIR4659B MIR4659A GS1-24F4.2 MCPH1 MIR8055 MCPH1-AS1
nsv831220	Chr.8:6670324 - 6870969 on Build GRCh38	Gain	DEFB1 AGPAT5 XKR5 MIR4659B MIR4659A GS1-24F4.2 MCPH1-AS1
nsv465436	Chr.8:6710680 - 7063882 on Build GRCh38	Gain	DEFB1 DEFT1P2 DEFA6 DEFA9P DEFA10P DEFA1B DEFA5 DEFA7P DEFA4 AGPAT5 XKR5 MIR4659B MIR4659A GS1-24F4.2 DEFA8P DEFA3 DEFA1 DEFT1P DEFA11P
dgv6877n100	Chr.8:6712833 - 6765164 on Build GRCh38	Gain	AGPAT5 MIR4659B MIR4659A
dgv6876n100	Chr.8:6687977 - 6812428 on Build GRCh38	Loss	AGPAT5 XKR5 MIR4659B MIR4659A MCPH1-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs114914513,rs372548565] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Process(es)

hematopoietic progenitor cell differentiation
phosphatidic acid biosynthetic process
phospholipid biosynthetic process
CDP-diacylglycerol biosynthetic process
triglyceride biosynthetic process

Function(s)

1-acylglycerol-3-phosphate O-acyltransferase activity
protein binding