Hs03613081_cn

• Gene Symbol: BAK1
• Assay Reference Genome Location: Chr.6:33574601 on build GRCh38
• Cytoband: 6p21.31

Target Gene Details

• Entrez Gene ID: 578
• Gene Name: BCL2 antagonist/killer 1
• Gene Aliases: BAK, BAK-LIKE, BCL2L7, CDN1
• Location: Chr.6:33572546-33580293 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BAK1	NM_001188.3			NP_001179.1
	XM_011514779.2			XP_011513081.1
	XM_011514780.1			XP_011513082.1
	AF520590.1			AAM74949.1
	AK091807.1
	AK292093.1
	AK293547.1
	CR457419.1			CAG33700.1
	CR627020.1	1	5476	CAI46254.1
	KU177934.1
	KU177935.1
	U16811.1			AAA74466.1
	U23765.1			AAA93066.1
	X84213.1			CAA58997.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3608630	Chr.6:33439052 - 34076935 on Build GRCh38	Gain	LOC101929188 ZBTB9 LINC00336 SYNGAP1 BAK1 MIR1275 UQCC2 LEMD2 MLN GGNBP1 LOC105375026 MIR3934 ITPR3 MIR7159 GRM4 IP6K3 LINC01016
nsv602833	Chr.6:33567103 - 33620370 on Build GRCh38	Loss	GGNBP1 LINC00336 BAK1
nsv519079	Chr.6:33572432 - 33574761 on Build GRCh38	Loss	BAK1

More Information

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

Gene Ontology Categories:

Process(es)

B cell homeostasis
B cell apoptotic process
release of cytochrome c from mitochondria
blood vessel remodeling
myeloid cell homeostasis
B cell negative selection
activation of signaling protein activity involved in unfolded protein response
brain development
aging
mitochondrial fusion
cell proliferation
negative regulation of cell proliferation
intrinsic apoptotic signaling pathway in response to DNA damage
activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
response to fungus
response to mycotoxin
response to UV-C
establishment or maintenance of transmembrane electrochemical gradient
response to gamma radiation
positive regulation of calcium ion transport into cytosol
negative regulation of gene expression
response to organic cyclic compound
cytolysis
endocrine pancreas development
organ regeneration
endoplasmic reticulum calcium ion homeostasis
negative regulation of endoplasmic reticulum calcium ion concentration
negative regulation of peptidyl-serine phosphorylation
cellular response to UV
limb morphogenesis
response to drug
response to hydrogen peroxide
positive regulation of apoptotic process
regulation of protein homodimerization activity
regulation of protein heterodimerization activity
fibroblast apoptotic process
response to ethanol
positive regulation of proteolysis
regulation of mitochondrial membrane permeability
post-embryonic camera-type eye morphogenesis
regulation of cell cycle
regulation of mitochondrial membrane potential
vagina development
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
thymocyte apoptotic process
cellular response to mechanical stimulus
positive regulation of release of cytochrome c from mitochondria
apoptotic signaling pathway
extrinsic apoptotic signaling pathway in absence of ligand
activation of cysteine-type endopeptidase activity
positive regulation of endoplasmic reticulum unfolded protein response
positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
apoptotic process involved in patterning of blood vessels
positive regulation of IRE1-mediated unfolded protein response

Function(s)

protein binding
heat shock protein binding
identical protein binding
protein homodimerization activity
ion channel binding
metal ion binding
protein heterodimerization activity
chaperone binding
BH domain binding