Hs04587701_cn

• Gene Symbol: BCL2L11
• Assay Reference Genome Location: Chr.2:111125974 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 4

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_207002.3			NP_996885.1
	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_011510461.2			XP_011508763.1
	XM_011510464.2			XP_011508766.1
	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
	AY352518.1			AAQ62569.1
	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
esv2667742	Chr.2:111125617 - 111128520 on Build GRCh38	Deletion	BCL2L11
esv2720516	Chr.2:111125626 - 111128526 on Build GRCh38	Deletion	BCL2L11
nsv582699	Chr.2:110763166 - 112172487 on Build GRCh38	Loss	MIR4435-2 MIR4435-2HG MIR4771-2 TMEM87B ANAPC1 PAFAH1B1P2 FBLN7 BCL2L11 MERTK LOC400997 ACOXL
nsv521956	Chr.2:110634682 - 112341235 on Build GRCh38	Loss	MIR4435-2 TMEM87B ANAPC1 PAFAH1B1P2 BUB1 SNORD132 ACOXL MIR4435-2HG MIR4771-2 ZC3H8 ZC3H6 FBLN7 BCL2L11 MERTK LOC400997
nsv834331	Chr.2:111054562 - 111247101 on Build GRCh38	Loss	MIR4435-2HG BCL2L11 LOC400997 ACOXL
nsv963952	Chr.2:111125682 - 111135485 on Build GRCh38	Deletion	BCL2L11
nsv829619	Chr.2:111125561 - 111127798 on Build GRCh38	Loss	BCL2L11
esv3591978	Chr.2:111125619 - 111128553 on Build GRCh38	Loss	BCL2L11
dgv4047n100	Chr.2:110308696 - 112358403 on Build GRCh38	Loss	MIR4435-2 LOC105373553 TMEM87B RGPD6 ANAPC1 PAFAH1B1P2 BUB1 SNORD132 LOC100288570 ACOXL MIR4435-2HG MIR4771-2 ZC3H8 LIMS4 LINC01106 ZC3H6 FBLN7 BCL2L11 LOC105375809 MERTK LOC400997

More Information

• 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