Hs06614996_cn

• Gene Symbol: CTNNB1
• Assay Reference Genome Location: Chr.3:41205142 on build GRCh38
• Cytoband: 3p22.1

Target Gene Details

• Entrez Gene ID: 1499
• Gene Name: catenin beta 1
• Gene Aliases: CTNNB, MRD19, armadillo
• Location: Chr.3:41199451-41240448 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CTNNB1	NM_001098209.1			NP_001091679.1
	NM_001098210.1			NP_001091680.1
	NM_001904.3			NP_001895.1
	XM_005264886.2			XP_005264943.1
	XM_006712985.1			XP_006713048.1
	XM_017005738.1			XP_016861227.1
	AK289932.1
	AK294778.1
	AK296790.1
	AK299954.1
	AK314776.1
	BC058926.1			AAH58926.1
	DA216720.1
	X87838.1			CAA61107.1
	Z19054.1			CAA79497.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv954468	Chr.3:41200310 - 41224409 on Build GRCh38	Duplication	CTNNB1
esv274874	Chr.3:41202225 - 41213720 on Build GRCh38	Loss	CTNNB1

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
embryonic axis specification
patterning of blood vessels
branching involved in ureteric bud morphogenesis
in utero embryonic development
gastrulation with mouth forming second
cell fate specification
endodermal cell fate commitment
neuron migration
epithelial to mesenchymal transition
neural plate development
liver development
positive regulation of neuroblast proliferation
positive regulation of mesenchymal cell proliferation
lens morphogenesis in camera-type eye
regulation of secondary heart field cardioblast proliferation
metanephros morphogenesis
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis
transcription, DNA-templated
cell adhesion
cell-matrix adhesion
Wnt signaling pathway, calcium modulating pathway
chemical synaptic transmission
ectoderm development
glial cell fate determination
midgut development
negative regulation of cell proliferation
anterior/posterior axis specification
dorsal/ventral axis specification
proximal/distal pattern formation
positive regulation of epithelial to mesenchymal transition
positive regulation of heparan sulfate proteoglycan biosynthetic process
Schwann cell proliferation
response to activity
Wnt signaling pathway
single organismal cell-cell adhesion
stem cell population maintenance
layer formation in cerebral cortex
central nervous system vasculogenesis
osteoclast differentiation
androgen receptor signaling pathway
male genitalia development
hindbrain development
regulation of centriole-centriole cohesion
pancreas development
hair follicle morphogenesis
regulation of myelination
positive regulation of telomere maintenance via telomerase
negative regulation of chondrocyte differentiation
response to estradiol
positive regulation of type I interferon production
T cell differentiation in thymus
negative regulation of protein sumoylation
response to cytokine
adherens junction assembly
protein localization to cell surface
embryonic heart tube development
genitalia morphogenesis
embryonic forelimb morphogenesis
embryonic hindlimb morphogenesis
hair cell differentiation
catenin import into nucleus
embryonic skeletal limb joint morphogenesis
regulation of T cell proliferation
odontogenesis of dentin-containing tooth
response to drug
embryonic digit morphogenesis
positive regulation of apoptotic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
proteasome-mediated ubiquitin-dependent protein catabolic process
positive regulation of MAPK cascade
positive regulation of neuron apoptotic process
response to estrogen
canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition
canonical Wnt signaling pathway involved in negative regulation of apoptotic process
cellular response to fibroblast growth factor stimulus
myoblast differentiation
bone resorption
positive regulation of endothelial cell differentiation
positive regulation of osteoblast differentiation
negative regulation of osteoclast differentiation
positive regulation of fibroblast growth factor receptor signaling pathway
regulation of angiogenesis
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
negative regulation of mitotic cell cycle, embryonic
response to cadmium ion
chromatin-mediated maintenance of transcription
regulation of fibroblast proliferation
cell maturation
synaptic vesicle transport
thymus development
oocyte development
embryonic foregut morphogenesis
positive regulation of skeletal muscle tissue development
regulation of smooth muscle cell proliferation
embryonic cranial skeleton morphogenesis
negative regulation of oligodendrocyte differentiation
regulation of neurogenesis
synapse organization
positive regulation of sequence-specific DNA binding transcription factor activity
smooth muscle cell differentiation
positive regulation of muscle cell differentiation
protein heterooligomerization
positive regulation of histone H3-K4 methylation
positive regulation of telomerase activity
oviduct development
canonical Wnt signaling pathway
trachea formation
epithelial tube branching involved in lung morphogenesis
lung cell differentiation
lung-associated mesenchyme development
lung induction
epithelial cell differentiation involved in prostate gland development
positive regulation of epithelial cell proliferation involved in prostate gland development
hair follicle placode formation
mesenchymal cell proliferation involved in lung development
endothelial tube morphogenesis
fungiform papilla formation
canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation
sympathetic ganglion development
cranial ganglion development
regulation of centromeric sister chromatid cohesion
cellular response to mechanical stimulus
cellular response to lithium ion
cellular response to growth factor stimulus
cellular response to indole-3-methanol
renal vesicle formation
renal inner medulla development
renal outer medulla development
nephron tubule formation
regulation of nephron tubule epithelial cell differentiation
regulation of calcium ion import
negative regulation of neuron death
positive regulation of chromatin-mediated maintenance of transcription
regulation of euchromatin binding
regulation of core promoter binding
beta-catenin-TCF complex assembly
beta-catenin destruction complex disassembly
midbrain dopaminergic neuron differentiation
canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation
cellular response to insulin-like growth factor stimulus
embryonic brain development
dorsal root ganglion development
regulation of protein localization to cell surface
positive regulation of determination of dorsal identity
positive regulation of DNA-templated transcription, initiation
negative regulation of apoptotic signaling pathway

Function(s)

RNA polymerase II transcription factor binding
RNA polymerase II activating transcription factor binding
double-stranded DNA binding
transcription factor activity, sequence-specific DNA binding
transcription coactivator activity
signal transducer activity
protein binding
protein C-terminus binding
transcription factor binding
enzyme binding
kinase binding
protein kinase binding
protein phosphatase binding
estrogen receptor binding
protein complex binding
ionotropic glutamate receptor binding
nuclear hormone receptor binding
transcription regulatory region DNA binding
ion channel binding
alpha-catenin binding
cadherin binding
SMAD binding
androgen receptor binding
nitric-oxide synthase binding
I-SMAD binding
repressing transcription factor binding
cadherin binding involved in cell-cell adhesion
euchromatin binding