Hs01275727_cn

• Gene Symbol: ACVR1B
• Assay Reference Genome Location: Chr.12:51975416 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 91
• Gene Name: activin A receptor type 1B
• Gene Aliases: ACTRIB, ACVRLK4, ALK4, SKR2
• Location: Chr.12:51951667-51997079 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACVR1B	NM_004302.4	2	320	NP_004293.1
	NM_020327.3	2	272	NP_064732.3
	NM_020328.3	2	320	NP_064733.3
	XM_011538966.2	2	298	XP_011537268.1
	XM_011538967.2	2	298	XP_011537269.1
	XM_017020199.1	2	1018	XP_016875688.1
	XM_017020200.1	3	413	XP_016875689.1
	XM_017020201.1	2	298	XP_016875690.1
	AK299120.1	2	283
	AK299496.1	2	272
	BC000254.1	2	269	AAH00254.1
	BC040531.1	2	317	AAH40531.1
	BT007072.1	2	243	AAP35735.1
	L10125.1	2	282	AAA60555.1
	L10126.1	2	243	AAA60556.1
	U14722.1	2	243	AAA50246.1
	Z22536.1	2	243	CAA80258.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv525457	Chr.12:51955304 - 51991027 on Build GRCh38	Loss	ACVR1B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

serine/threonine protein kinase receptor

Gene Ontology Categories:

Process(es)

G1/S transition of mitotic cell cycle
in utero embryonic development
hair follicle development
regulation of transcription, DNA-templated
protein phosphorylation
signal transduction
transmembrane receptor protein serine/threonine kinase signaling pathway
central nervous system development
negative regulation of gene expression
positive regulation of pathway-restricted SMAD protein phosphorylation
peptidyl-threonine phosphorylation
signal transduction by protein phosphorylation
negative regulation of cell growth
activin receptor signaling pathway
positive regulation of activin receptor signaling pathway
nodal signaling pathway
positive regulation of erythrocyte differentiation
positive regulation of transcription from RNA polymerase II promoter
development of primary female sexual characteristics
protein autophosphorylation
extrinsic apoptotic signaling pathway
positive regulation of trophoblast cell migration

Function(s)

protein serine/threonine kinase activity
transmembrane receptor protein serine/threonine kinase activity
receptor signaling protein serine/threonine kinase activity
protein binding
ATP binding
activin receptor activity, type I
activin-activated receptor activity
growth factor binding
ubiquitin protein ligase binding
inhibin binding
SMAD binding
metal ion binding
activin binding