Hs07000655_cn

• Gene Symbol: ACVRL1
• Assay Reference Genome Location: Chr.12:51909095 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 94
• Gene Name: activin A receptor like type 1
• Gene Aliases: ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I
• Location: Chr.12:51906913-51923361 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACVRL1	NM_000020.2			NP_000011.2
	XM_005269235.2			XP_005269292.1
	AK298493.1
	DN999570.1
	HM161905.1
	HM161906.1
	Z22533.1			CAA80255.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv558895	Chr.12:51872564 - 51920604 on Build GRCh38	Loss	ACVRL1 ANKRD33
nsv527286	Chr.12:51892992 - 51920604 on Build GRCh38	Loss	ACVRL1

More Information

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

Panther Classification:

Molecular Function -

serine/threonine protein kinase receptor

Gene Ontology Categories:

Process(es)

angiogenesis
in utero embryonic development
regulation of endothelial cell proliferation
negative regulation of endothelial cell proliferation
positive regulation of endothelial cell proliferation
lymphangiogenesis
blood vessel maturation
blood vessel remodeling
blood vessel endothelial cell proliferation involved in sprouting angiogenesis
endocardial cushion morphogenesis
regulation of DNA replication
regulation of transcription, DNA-templated
protein phosphorylation
negative regulation of cell adhesion
signal transduction
transforming growth factor beta receptor signaling pathway
blood circulation
regulation of blood pressure
negative regulation of cell proliferation
negative regulation of endothelial cell migration
negative regulation of gene expression
positive regulation of pathway-restricted SMAD protein phosphorylation
signal transduction by protein phosphorylation
negative regulation of cell growth
negative regulation of cell migration
BMP signaling pathway
positive regulation of BMP signaling pathway
positive regulation of chondrocyte differentiation
activin receptor signaling pathway
wound healing, spreading of epidermal cells
dorsal aorta morphogenesis
regulation of blood vessel endothelial cell migration
negative regulation of blood vessel endothelial cell migration
negative regulation of endothelial cell differentiation
positive regulation of endothelial cell differentiation
positive regulation of angiogenesis
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
protein heterooligomerization
negative regulation of focal adhesion assembly
lymphatic endothelial cell differentiation
artery development
venous blood vessel development
endothelial tube morphogenesis
retina vasculature development in camera-type eye
cellular response to transforming growth factor beta stimulus
cellular response to BMP stimulus
endocardial cushion to mesenchymal transition
negative regulation of DNA biosynthetic process

Function(s)

protein serine/threonine kinase activity
transmembrane receptor protein serine/threonine kinase activity
receptor signaling protein serine/threonine kinase activity
transforming growth factor beta-activated receptor activity
transforming growth factor beta receptor activity, type I
protein binding
ATP binding
activin receptor activity, type I
protein kinase binding
SMAD binding
metal ion binding
activin binding
transforming growth factor beta binding
BMP receptor activity