Hs04214144_cn

• Gene Symbol: BMP8B
• Assay Reference Genome Location: Chr.1:39786168 on build GRCh38
• Cytoband: 1p34.2

Target Gene Details

• Entrez Gene ID: 656
• Gene Name: bone morphogenetic protein 8b
• Gene Aliases: BMP8, OP2
• Location: Chr.1:39757182-39788861 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BMP8B	NM_001720.3			NP_001711.2
	XM_005271149.4			XP_005271206.1
	XM_011542022.2			XP_011540324.1
	XM_011542024.2			XP_011540326.2
	XM_011542025.2			XP_011540327.1
	XM_017002155.1			XP_016857644.1
	XM_017002156.1			XP_016857645.1
	AY303955.1			AAP74560.1
	BC108678.1			AAI08679.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2758933	Chr.1:39759471 - 40194760 on Build GRCh38	Loss	TRIT1 PPIE BMP8B PPT1 RLF MFSD2A OXCT2 LOC101929536 CAP1 MYCL
dgv152n100	Chr.1:39693156 - 39800418 on Build GRCh38	Gain	PPIE BMP8B OXCT2 LOC101929536
dgv153n100	Chr.1:39715819 - 39848248 on Build GRCh38	Gain	TRIT1 PPIE BMP8B OXCT2 LOC101929536
nsv546063	Chr.1:39719061 - 39841226 on Build GRCh38	Gain	TRIT1 PPIE BMP8B OXCT2 LOC101929536

More Information

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

Panther Classification:

Molecular Function -

growth factor

Gene Ontology Categories:

Process(es)

skeletal system development
ossification
positive regulation of pathway-restricted SMAD protein phosphorylation
BMP signaling pathway
growth
regulation of apoptotic process
regulation of MAPK cascade
cell development
cartilage development
SMAD protein signal transduction

Function(s)

cytokine activity
transforming growth factor beta receptor binding
growth factor activity
BMP receptor binding