Hs02199168_cn

• Gene Symbol: BCL2A1
• Assay Reference Genome Location: Chr.15:79971168 on build GRCh38
• Cytoband: 15q25.1

Target Gene Details

• Entrez Gene ID: 597
• Gene Name: BCL2 related protein A1
• Gene Aliases: ACC-1, ACC-2, ACC1, ACC2, BCL2L5, BFL1, GRS, HBPA1
• Location: Chr.15:79960890-79971301 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCL2A1	NM_001114735.1	1	134	NP_001108207.1
	NM_004049.3	1	134	NP_004040.1
	AL110097.1
	AY234180.1			AAO89009.1
	BC016281.1			AAH16281.1
	BG198875.1	1	281
	BG216703.1	1	134
	U27467.1			AAC50288.1
	U29680.1			AAC50438.1
	Y09397.1			CAA70566.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833066	Chr.15:79878078 - 80033241 on Build GRCh38	Loss	BCL2A1 ST20 ST20-MTHFS MTHFS ST20-AS1
nsv833065	Chr.15:79760661 - 79982480 on Build GRCh38	Loss	BCL2A1 ST20 ST20-MTHFS MTHFS ST20-AS1
nsv952007	Chr.15:79965559 - 79972258 on Build GRCh38	Duplication	BCL2A1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

release of cytochrome c from mitochondria
mitochondrial fusion
intrinsic apoptotic signaling pathway in response to DNA damage
positive regulation of apoptotic process
negative regulation of apoptotic process
transmembrane transport
extrinsic apoptotic signaling pathway in absence of ligand

Function(s)

protein binding
channel activity
protein homodimerization activity
protein heterodimerization activity