Hs00286512_cn

• Gene Symbol: ANGPTL3
• Assay Reference Genome Location: Chr.1:62604791 on build GRCh38
• Cytoband: 1p31.3

Target Gene Details

• Entrez Gene ID: 27329
• Gene Name: angiopoietin like 3
• Gene Aliases: ANG-5, ANGPT5, ANL3, FHBL2
• Location: Chr.1:62597487-62606305 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANGPTL3	NM_014495.3	7	1437	NP_055310.1
	AF152562.1	7	1381	AAD34156.1
	AK289426.1	7	1404
	AK315304.1
	AY358273.1	7	1393	AAQ88640.1
	BC058287.1	7	1408	AAH58287.1

Target Gene Details

• Entrez Gene ID: 85440
• Gene Name: dedicator of cytokinesis 7
• Gene Aliases: EIEE23, ZIR2
• Location: Chr.1:62454726-62688368 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DOCK7	NM_001271999.1			NP_001258928.1
	NM_001272000.1			NP_001258929.1
	NM_001272001.1			NP_001258930.1
	NM_001272002.1			NP_001258931.1
	NM_033407.3			NP_212132.2
	XM_005271292.2			XP_005271349.1
	XM_011542326.2			XP_011540628.1
	XM_011542327.2			XP_011540629.1
	XM_011542328.2			XP_011540630.1
	XM_011542330.2			XP_011540632.1
	XM_017002639.1			XP_016858128.1
	XM_017002640.1			XP_016858129.1
	AK055401.1			BAB70917.1
	AK292640.1
	DQ118679.1			AAZ38451.1
	DQ118680.1			AAZ38452.1
	DQ309763.1			ABC33725.1
	DQ341187.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1000988	Chr.1:62596120 - 62641855 on Build GRCh38	Loss	ANGPTL3 DOCK7
nsv1014376	Chr.1:62510801 - 62715688 on Build GRCh38	Loss	ANGPTL3 DOCK7
nsv1011203	Chr.1:62581375 - 62616208 on Build GRCh38	Loss	ANGPTL3 DOCK7

More Information

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

Panther Classification:

Molecular Function -

intercellular signal molecule, guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

angiogenesis
glycerol metabolic process
fatty acid metabolic process
phospholipid metabolic process
cell-matrix adhesion
signal transduction
integrin-mediated signaling pathway
cholesterol metabolic process
phospholipid catabolic process
response to hormone
negative regulation of phospholipase activity
lipid storage
positive regulation of cell migration
cholesterol homeostasis
positive regulation of angiogenesis
artery morphogenesis
positive regulation of lipid catabolic process
negative regulation of lipoprotein lipase activity
lipid homeostasis
acylglycerol homeostasis
phospholipid homeostasis
triglyceride homeostasis
microtubule cytoskeleton organization
small GTPase mediated signal transduction
axonogenesis
interkinetic nuclear migration
neuron projection development
positive regulation of peptidyl-serine phosphorylation
establishment of neuroblast polarity
regulation of neurogenesis
activation of GTPase activity
positive regulation of vascular associated smooth muscle cell migration

Function(s)

enzyme inhibitor activity
phospholipase inhibitor activity
integrin binding
growth factor activity
heparin binding
guanyl-nucleotide exchange factor activity
Rac GTPase binding