Hs01907516_cn

• Gene Symbol: ANGPT1
• Assay Reference Genome Location: Chr.8:107251616 on build GRCh38
• Cytoband: 8q23.1

Target Gene Details

• Entrez Gene ID: 284
• Gene Name: angiopoietin 1
• Gene Aliases: AGP1, AGPT, ANG1
• Location: Chr.8:107249482-107498055 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANGPT1	NM_001146.4	9	2233	NP_001137.2
	NM_001199859.2	9	2230	NP_001186788.1
	NM_001314051.1	8	1415	NP_001300980.1
	AK300319.1	8	1415
	AK304717.1	9	1686
	BC152411.1	9	2087
	BC152419.1	9	2099
	BX648814.1	9	2234	CAI45984.1
	D13628.2	9	2087
	U83508.1	9	2045	AAB50557.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2764100	Chr.8:107208443 - 107457005 on Build GRCh38	Gain	ANGPT1
nsv611851	Chr.8:107212459 - 107473684 on Build GRCh38	Gain	ANGPT1
nsv1028726	Chr.8:106804613 - 107380319 on Build GRCh38	Gain	ANGPT1

More Information

Additional Information:

For this assay, SNP(s) [rs144478184] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

intercellular signal molecule

Gene Ontology Categories:

Process(es)

MAPK cascade
in utero embryonic development
negative regulation of protein phosphorylation
regulation of endothelial cell proliferation
sprouting angiogenesis
positive regulation of receptor internalization
negative regulation of cytokine secretion involved in immune response
negative regulation of cell adhesion
activation of transmembrane receptor protein tyrosine kinase activity
positive regulation of endothelial cell migration
positive regulation of phosphatidylinositol 3-kinase signaling
regulation of skeletal muscle satellite cell proliferation
hemopoiesis
cell differentiation
heparin biosynthetic process
positive regulation of protein ubiquitination
cell-substrate adhesion
regulation of tumor necrosis factor production
positive regulation of peptidyl-serine phosphorylation
protein localization to cell surface
negative regulation of protein import into nucleus
negative regulation of apoptotic process
negative regulation of vascular permeability
regulation of I-kappaB kinase/NF-kappaB signaling
regulation of protein binding
negative regulation of neuron apoptotic process
positive regulation of blood vessel endothelial cell migration
positive regulation of GTPase activity
positive regulation of cell adhesion
Tie signaling pathway
positive regulation of peptidyl-tyrosine phosphorylation
leukocyte migration
positive chemotaxis
positive regulation of protein kinase B signaling
positive regulation of ERK1 and ERK2 cascade
glomerulus vasculature development
negative regulation of endothelial cell apoptotic process
regulation of macrophage migration inhibitory factor signaling pathway

Function(s)

Ras guanyl-nucleotide exchange factor activity
receptor tyrosine kinase binding