Hs00984585_cn

• Gene Symbol: BBC3
• Assay Reference Genome Location: Chr.19:47221137 on build GRCh38
• Cytoband: 19q13.32

Target Gene Details

• Entrez Gene ID: 27113
• Gene Name: BCL2 binding component 3
• Gene Aliases: JFY-1, JFY1, PUMA
• Location: Chr.19:47220822-47232998 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BBC3	NM_001127240.2	4	1514	NP_001120712.1
	NM_001127241.2	3	1225	NP_001120713.1
	NM_001127242.2	2	1034	NP_001120714.1
	NM_014417.4	4	1528	NP_055232.1
	XM_006723141.3	4	1479	XP_006723204.1
	XM_011526722.2	4	1420	XP_011525024.1
	AA887822.1	1	326
	AF332558.1	4	1528	AAK31316.1
	AF354654.1	4	1514	AAK39542.1
	AF354655.1	3	1225	AAK39543.1
	AF354656.1	2	1034	AAK39544.1
	AK124984.1	1	1434
	BG258126.1	1	298
	U82987.1	4	1293	AAB51243.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833852	Chr.19:47134590 - 47307834 on Build GRCh38	Loss	BBC3 CCDC9 MIR3190 MIR3191 INAFM1 SAE1
nsv1067417	Chr.19:47103045 - 47309908 on Build GRCh38	Gain	BBC3 ZC3H4 CCDC9 MIR3190 MIR3191 C5AR1 INAFM1 SAE1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

apoptotic process
positive regulation of release of cytochrome c from mitochondria
intrinsic apoptotic signaling pathway

Function(s)

glycoprotein binding
protein binding
ATPase binding