Hs02906814_cn

• Gene Symbol: BAX
• Assay Reference Genome Location: Chr.19:48961843 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 581
• Gene Name: BCL2 associated X, apoptosis regulator
• Gene Aliases: BCL2L4
• Location: Chr.19:48954825-48961798 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BAX	NM_001291428.1			NP_001278357.1
	NM_001291431.1			NP_001278360.1
	NM_138761.3			NP_620116.1
	NM_138763.3			NP_620118.1
	NM_138764.4			NP_620119.2
	NR_027882.1
	XM_017027077.1			XP_016882566.1
	AI565203.1
	AK291076.1
	BC014175.2			AAH14175.1
	BM673184.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	FCGRT KCNA7 ADM5 CCDC114 DBP SNORD34 PLEKHA4 CGB3 LOC100287477 FLT3LG GFY AP2A1 TEAD2 LOC105372430 SNAR-C5 VRK3 SNAR-A11 TULP2 SNAR-A4 FUT2 SNAR-C2 TRPM4 SNAR-A6 SNAR-G1 SNORD32A SNAR-A13 C19orf68 PNKP SNAR-A8 RPS11 LOC101928295 LOC105447645 TMEM143 MAMSTR HRC PTH2 MIR5088 GRIN2D CCDC155 TSKS PLA2G4C SNAR-A5 CABP5 FUT1 SYNGR4 SLC6A16 CGB5 EMP3 PTOV1-AS1 SIGLEC11 MIR4751 RRAS RASIP1 IRF3 MIR6800 SNAR-A7 CARD8 MIR4749 FAM83E BSPH1 FTL CGB7 RUVBL2 HSD17B14 CGB1 SPHK2 PRR12 SNAR-B2 DHDH LMTK3 IL4I1 NOSIP PTOV1-AS2 SNAR-C3 C19orf73 SNAR-A2 SNAR-A3 SIGLEC16 PRRG2 CD37 MIR4750 SNAR-B1 ELSPBP1 SPACA4 SCAF1 BCAT2 KCNJ14 SLC17A7 CPT1C RPL13A MED25 CGB8 SNORD33 IZUMO1 FGF21 LIG1 KDELR1 MIR6799 RPL18 PIH1D1 SNAR-A12 BAX SNAR-A10 NUCB1-AS1 NUP62 RCN3 ATF5 DKKL1 PLA2G4C-AS1 MIR4324 SNAR-A14 NUCB1 SEC1P PTOV1 ZNF473 ALDH16A1 GRWD1 MIR150 AKT1S1 FLJ26850 CYTH2 BCL2L12 LOC101059948 CGB2 SNORD35B PPFIA3 GYS1 SNAR-A1 CA11 SNAR-D SNAR-A9 TBC1D17 FUZ SNORD35A SNAR-G2 LHB NTF4 PPP1R15A SULT2B1 SNRNP70 MIR6798 LIN7B ZNF114 SNAR-C4 NTN5 SNAR-C1 CARD8-AS1 PRMT1
dgv3618n100	Chr.19:48948950 - 49021211 on Build GRCh38	Gain	FTL RUVBL2 MIR6798 BAX LOC101059948 LHB GYS1
nsv833857	Chr.19:48914476 - 49146320 on Build GRCh38	Loss	KCNA7 NUCB1 C19orf73 CGB8 SNAR-G2 LHB NTF4 FTL CGB7 SNRNP70 RUVBL2 MIR6798 LIN7B CGB1 CGB3 BAX CGB5 NUCB1-AS1 LOC101059948 CGB2 DHDH SNAR-G1 PPFIA3 GYS1
nsv953598	Chr.19:48957644 - 49085143 on Build GRCh38	Deletion	KCNA7 CGB8 SNAR-G2 LHB NTF4 FTL CGB7 SNRNP70 RUVBL2 MIR6798 CGB1 CGB3 BAX CGB5 LOC101059948 CGB2 SNAR-G1 GYS1
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	FTL PPP1R15A PLEKHA4 NUCB1 BAX NUCB1-AS1 DHDH TULP2 GYS1

More Information

Additional Information:

For this assay, SNP(s) [rs112938655,rs117098111] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Gene Ontology Categories:

Process(es)

ovarian follicle development
neuron migration
T cell homeostatic proliferation
B cell homeostasis
B cell apoptotic process
kidney development
release of cytochrome c from mitochondria
protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
blood vessel remodeling
myeloid cell homeostasis
B cell negative selection
B cell homeostatic proliferation
positive regulation of B cell apoptotic process
glycosphingolipid metabolic process
regulation of nitrogen utilization
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
activation of signaling protein activity involved in unfolded protein response
inner mitochondrial membrane organization
outer mitochondrial membrane organization
germ cell development
aging
mitochondrial fusion
extrinsic apoptotic signaling pathway via death domain receptors
intrinsic apoptotic signaling pathway in response to DNA damage
activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c
apoptotic mitochondrial changes
fertilization
response to toxic substance
response to salt stress
establishment or maintenance of transmembrane electrochemical gradient
response to gamma radiation
viral process
hypothalamus development
cerebral cortex development
negative regulation of protein binding
positive regulation of protein oligomerization
endoplasmic reticulum calcium ion homeostasis
negative regulation of endoplasmic reticulum calcium ion concentration
release of matrix enzymes from mitochondria
negative regulation of peptidyl-serine phosphorylation
regulation of mammary gland epithelial cell proliferation
glial cell apoptotic process
cellular response to UV
ectopic germ cell programmed cell death
response to cocaine
odontogenesis of dentin-containing tooth
response to drug
regulation of apoptotic process
positive regulation of apoptotic process
regulation of protein homodimerization activity
regulation of protein heterodimerization activity
negative regulation of neuron apoptotic process
positive regulation of neuron apoptotic process
mitochondrial fragmentation involved in apoptotic process
development of secondary sexual characteristics
cellular respiration
retinal cell programmed cell death
response to copper ion
positive regulation of developmental pigmentation
negative regulation of fibroblast proliferation
spermatid differentiation
post-embryonic camera-type eye morphogenesis
response to axon injury
homeostasis of number of cells within a tissue
protein oligomerization
protein homooligomerization
positive regulation of release of sequestered calcium ion into cytosol
neuron apoptotic process
response to corticosterone
regulation of mitochondrial membrane potential
Sertoli cell proliferation
retina development in camera-type eye
positive regulation of apoptotic process involved in mammary gland involution
vagina development
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
thymocyte apoptotic process
mitochondrion morphogenesis
intrinsic apoptotic signaling pathway by p53 class mediator
positive regulation of release of cytochrome c from mitochondria
apoptotic signaling pathway
extrinsic apoptotic signaling pathway
extrinsic apoptotic signaling pathway in absence of ligand
intrinsic apoptotic signaling pathway
activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
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
apoptotic process involved in embryonic digit morphogenesis
regulation of mitochondrial membrane permeability involved in programmed necrotic cell death
positive regulation of apoptotic DNA fragmentation
positive regulation of IRE1-mediated unfolded protein response
B cell receptor apoptotic signaling pathway
negative regulation of apoptotic signaling pathway
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
positive regulation of intrinsic apoptotic signaling pathway

Function(s)

protein binding
lipid binding
channel activity
heat shock protein binding
protein complex binding
identical protein binding
protein homodimerization activity
protein heterodimerization activity
chaperone binding
BH3 domain binding