Hs01864700_cn

• Gene Symbol: BMP8A
• Assay Reference Genome Location: Chr.1:39527043 on build GRCh38
• Cytoband: 1p34.3

Target Gene Details

• Entrez Gene ID: 353500
• Gene Name: bone morphogenetic protein 8a
• Gene Aliases: -
• Location: Chr.1:39491626-39529869 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BMP8A	NM_181809.3	7	2800	NP_861525.2
	AK127199.1	1	385

Target Gene Details

• Entrez Gene ID: 728448
• Gene Name: peptidylprolyl isomerase E like pseudogene
• Gene Aliases: PPIEP1
• Location: Chr.1:39522280-39559698 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PPIEL	NR_003929.2
	AI075765.1
	AK092606.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829649	Chr.1:39505283 - 39638842 on Build GRCh38	Loss	OXCT2P1 PPIEL BMP8A LOC101929516 PABPC4 HEYL SNORA55
nsv508160	Chr.1:39503058 - 39564874 on Build GRCh38	Deletion	OXCT2P1 PPIEL BMP8A PABPC4

More Information

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

Panther Classification:

Molecular Function -

growth factor

Gene Ontology Categories:

Process(es)

ossification
diet induced thermogenesis
positive regulation of pathway-restricted SMAD protein phosphorylation
BMP signaling pathway
growth
regulation of apoptotic process
regulation of MAPK cascade
negative regulation of insulin secretion
cell development
cartilage development
SMAD protein signal transduction
regulation of energy homeostasis

Function(s)

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