Hs01692399_cn

• Gene Symbol: BCL2L11
• Assay Reference Genome Location: Chr.2:111123776 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 Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BCL2L11	NM_001204106.1	2	319	NP_001191035.1
	NM_001204107.1	2	319	NP_001191036.1
	NM_001204108.1	2	319	NP_001191037.1
	NM_001204109.1	2	319	NP_001191038.1
	NM_001204110.1	2	319	NP_001191039.1
	NM_001204111.1	2	319	NP_001191040.1
	NM_001204112.1	2	319	NP_001191041.1
	NM_001204113.1	2	319	NP_001191042.1
	NM_006538.4	2	319	NP_006529.1
	NM_138621.4	2	319	NP_619527.1
	NM_138622.3	2	319	NP_619528.1
	NM_138623.3	2	319	NP_619529.1
	NM_138624.3	2	319	NP_619530.1
	NM_138625.3	2	319	NP_619531.1
	NM_138626.3	2	319	NP_619532.1
	NM_138627.3	2	319	NP_619533.1
	NM_207002.3	2	319	NP_996885.1
	NM_207003.2	2	319	NP_996886.1
	XM_005263550.3	2	1097	XP_005263607.1
	XM_005263551.2	2	1097	XP_005263608.1
	XM_005263552.3	2	1097	XP_005263609.1
	XM_005263553.2	2	1097	XP_005263610.1
	XM_005263554.2	2	1097	XP_005263611.1
	XM_005263555.3	2	1097	XP_005263612.1
	XM_005263556.3	2	319	XP_005263613.1
	XM_005263557.4	2	396	XP_005263614.1
	XM_005263559.2	2	1097	XP_005263616.1
	XM_005263561.3	2	319	XP_005263618.1
	XM_011510461.2	2	1097	XP_011508763.1
	XM_011510464.2	2	1097	XP_011508766.1
	XM_017003101.1	2	1097	XP_016858590.1
	XM_017003102.1	2	319	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	2	319
	AK291269.1	2	316
	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	2	301	AAH33694.1
	CN411912.1	2	288
	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
nsv829618	Chr.2:111118050 - 111123970 on Build GRCh38	Gain	ACOXL BCL2L11
nsv582699	Chr.2:110763166 - 112172487 on Build GRCh38	Loss	LOC400997 ANAPC1 MIR4771-2 TMEM87B FBLN7 MIR4435-2HG MERTK MIR4435-2 ACOXL PAFAH1B1P2 BCL2L11
nsv521956	Chr.2:110634682 - 112341235 on Build GRCh38	Loss	LOC400997 ANAPC1 SNORD132 MIR4771-2 TMEM87B FBLN7 ZC3H8 MIR4435-2 BCL2L11 MIR4435-2HG BUB1 MERTK ZC3H6 ACOXL PAFAH1B1P2
nsv834331	Chr.2:111054562 - 111247101 on Build GRCh38	Loss	LOC400997 MIR4435-2HG ACOXL BCL2L11
dgv4047n100	Chr.2:110308696 - 112358403 on Build GRCh38	Loss	LINC01106 LOC400997 ANAPC1 SNORD132 MIR4771-2 TMEM87B FBLN7 ZC3H8 RGPD6 MIR4435-2 BCL2L11 LOC105375809 LIMS4 MIR4435-2HG BUB1 MERTK LOC100288570 LOC105373553 ZC3H6 ACOXL PAFAH1B1P2

More Information

• Set Membership: Intragenic, 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