Hs04674738_cn

• Gene Symbol: BCL2L11
• Assay Reference Genome Location: Chr.2:111140035 on build GRCh38
• Cytoband: 2q13

Target Gene Details

• Entrez Gene ID: 10018
• Gene Name: BCL2 like 11
• Gene Aliases: BAM, BIM, BOD
• Location: Chr.2:111120914-111168445 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCL2L11	NM_001204106.1			NP_001191035.1
	NM_001204107.1			NP_001191036.1
	NM_001204108.1			NP_001191037.1
	NM_001204109.1			NP_001191038.1
	NM_001204110.1			NP_001191039.1
	NM_001204111.1			NP_001191040.1
	NM_001204112.1			NP_001191041.1
	NM_001204113.1			NP_001191042.1
	NM_006538.4			NP_006529.1
	NM_138621.4			NP_619527.1
	NM_138622.3			NP_619528.1
	NM_138623.3			NP_619529.1
	NM_138624.3			NP_619530.1
	NM_138625.3			NP_619531.1
	NM_138626.3			NP_619532.1
	NM_138627.3			NP_619533.1
	NM_207003.2			NP_996886.1
	XM_005263550.3			XP_005263607.1
	XM_005263551.2			XP_005263608.1
	XM_005263552.3			XP_005263609.1
	XM_005263553.2			XP_005263610.1
	XM_005263554.2			XP_005263611.1
	XM_005263555.3			XP_005263612.1
	XM_005263556.3			XP_005263613.1
	XM_005263557.4			XP_005263614.1
	XM_005263559.2			XP_005263616.1
	XM_005263561.3			XP_005263618.1
	XM_017003101.1			XP_016858590.1
	XM_017003102.1			XP_016858591.1
	AB071195.1			BAB78589.1
	AB071196.1			BAB78590.1
	AB071197.1			BAB78591.1
	AB071198.1			BAB78592.1
	AB071199.1			BAB78593.1
	AB071200.1			BAB78594.1
	AF032457.1			AAC39593.1
	AF032458.1			AAC39594.1
	AK290377.1
	AK291269.1
	AW629314.1
	AY305714.1			AAQ82546.1
	AY305715.1			AAQ82547.1
	AY305716.1			AAT34900.1
	AY423441.1			AAQ99148.1
	AY423442.1			AAQ99149.1
	AY423443.1			AAQ99150.1
	AY428962.1			AAR06908.1
	BC033694.1			AAH33694.1
	DQ849200.1			ABI13589.1
	DQ849201.1			ABI13590.1
	DQ849202.1			ABI13591.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv582699	Chr.2:110763166 - 112172487 on Build GRCh38	Loss	FBLN7 MERTK MIR4435-2 MIR4435-2HG LOC400997 MIR4771-2 PAFAH1B1P2 TMEM87B ACOXL ANAPC1 BCL2L11
nsv521956	Chr.2:110634682 - 112341235 on Build GRCh38	Loss	MIR4435-2 LOC400997 TMEM87B ACOXL ANAPC1 ZC3H8 FBLN7 MERTK BUB1 MIR4435-2HG MIR4771-2 PAFAH1B1P2 ZC3H6 SNORD132 BCL2L11
nsv834331	Chr.2:111054562 - 111247101 on Build GRCh38	Loss	MIR4435-2HG LOC400997 ACOXL BCL2L11
dgv4047n100	Chr.2:110308696 - 112358403 on Build GRCh38	Loss	LOC105375809 MIR4435-2 LOC400997 RGPD6 TMEM87B LOC105373553 ACOXL ANAPC1 ZC3H8 FBLN7 MERTK BUB1 LIMS4 MIR4435-2HG LOC100288570 MIR4771-2 PAFAH1B1P2 ZC3H6 SNORD132 LINC01106 BCL2L11

More Information

Additional Information:

For this assay, SNP(s) [rs72836353] 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, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

in utero embryonic development
B cell homeostasis
B cell apoptotic process
kidney development
protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
myeloid cell homeostasis
apoptotic process
meiosis I
cell-matrix adhesion
spermatogenesis
brain development
male gonad development
intrinsic apoptotic signaling pathway in response to DNA damage
mammary gland development
positive regulation of protein homooligomerization
response to endoplasmic reticulum stress
tube formation
odontogenesis of dentin-containing tooth
T cell homeostasis
positive regulation of apoptotic process
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
positive regulation of neuron apoptotic process
ear development
positive regulation of cell cycle
regulation of organ growth
developmental pigmentation
regulation of developmental pigmentation
spleen development
thymus development
post-embryonic organ morphogenesis
positive regulation of apoptotic process by virus
cellular process regulating host cell cycle in response to virus
thymocyte apoptotic process
positive regulation of release of cytochrome c from mitochondria
extrinsic apoptotic signaling pathway in absence of ligand
positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway
positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
apoptotic process involved in embryonic digit morphogenesis
positive regulation of IRE1-mediated unfolded protein response
positive regulation of fibroblast apoptotic process
positive regulation of intrinsic apoptotic signaling pathway

Function(s)

protein binding
microtubule binding
dynein binding