About Enhancer

Enhancer ID: E_01_0509
Species: human
Position : chr3:41192441-41194441
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Sinonasal tubular cell tumor (sn-gpc)
Pubmed ID:  29736797
Enhancer experiment: Immunohistochemistry,PCR,Sanger sequencing,
Enhancer experiment description: We examined three SN-GPCs by immunohistochemistry and CTNNB1 mutation analysis. All cases expressed nuclear ?-catenin. We identified CTNNB1 exon 3 mutations in two analyzable cases. Lymphoid enhancer-binding factor 1 (LEF1), a protein downstream from ?-catenin, was also expressed in all cases. Our results further characterized the activation of the Wnt signaling pathway caused by CTNNB1 exon 3 mutation and suggest the utility of LEF1 immunohistochemistry in the differential diagnosis of SN-GPC.

About Target gene

Target gene : --
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: We examined three SN-GPCs by immunohistochemistry and CTNNB1 mutation analysis. All cases expressed nuclear ?-catenin. We identified CTNNB1 exon 3 mutations in two analyzable cases. Lymphoid enhancer-binding factor 1 (LEF1), a protein downstream from ?-catenin, was also expressed in all cases. Our results further characterized the activation of the Wnt signaling pathway caused by CTNNB1 exon 3 mutation and suggest the utility of LEF1 immunohistochemistry in the differential diagnosis of SN-GPC.;We examined three SN-GPCs by immunohistochemistry and CTNNB1 mutation analysis. All cases expressed nuclear ?-catenin. We identified CTNNB1 exon 3 mutations in two analyzable cases. Lymphoid enhancer-binding factor 1 (LEF1), a protein downstream from ?-catenin, was also expressed in all cases. Our results further characterized the activation of the Wnt signaling pathway caused by CTNNB1 exon 3 mutation and suggest the utility of LEF1 immunohistochemistry in the differential diagnosis of SN-GPC.

About TF

TF name : CTNNB1LEF1(LEF-1,TCF10,TCF1ALPHA,TCF7L3)
TF experiment: Immunohistochemistry,PCR,Sanger sequencing,
TF experiment description: We examined three SN-GPCs by immunohistochemistry and CTNNB1 mutation analysis. All cases expressed nuclear ?-catenin. We identified CTNNB1 exon 3 mutations in two analyzable cases. Lymphoid enhancer-binding factor 1 (LEF1), a protein downstream from ?-catenin, was also expressed in all cases. Our results further characterized the activation of the Wnt signaling pathway caused by CTNNB1 exon 3 mutation and suggest the utility of LEF1 immunohistochemistry in the differential diagnosis of SN-GPC.;We examined three SN-GPCs by immunohistochemistry and CTNNB1 mutation analysis. All cases expressed nuclear ?-catenin. We identified CTNNB1 exon 3 mutations in two analyzable cases. Lymphoid enhancer-binding factor 1 (LEF1), a protein downstream from ?-catenin, was also expressed in all cases. Our results further characterized the activation of the Wnt signaling pathway caused by CTNNB1 exon 3 mutation and suggest the utility of LEF1 immunohistochemistry in the differential diagnosis of SN-GPC.

About Function

Enhancer function : We examined three SN-GPCs by immunohistochemistry and CTNNB1 mutation analysis. All cases expressed nuclear ?-catenin. We identified CTNNB1 exon 3 mutations in two analyzable cases. Lymphoid enhancer-binding factor 1 (LEF1), a protein downstream from ?-catenin, was also expressed in all cases. Our results further characterized the activation of the Wnt signaling pathway caused by CTNNB1 exon 3 mutation and suggest the utility of LEF1 immunohistochemistry in the differential diagnosis of SN-GPC.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:		 We examined three SN-GPCs by immunohistochemistry and CTNNB1 mutation analysis. All cases expressed nuclear ?-catenin. We identified CTNNB1 exon 3 mutations in two analyzable cases. Lymphoid enhancer-binding factor 1 (LEF1), a protein downstream from ?-catenin, was also expressed in all cases. Our results further characterized the activation of the Wnt signaling pathway caused by CTNNB1 exon 3 mutation and suggest the utility of LEF1 immunohistochemistry in the differential diagnosis of SN-GPC.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
CTNNB1 Adherens junctions interactions reactome 30
CTNNB1 Alzheimer disease-presenilin pathway panther 98
CTNNB1 AndrogenReceptor netpath 167
CTNNB1 Angiogenesis panther 141
CTNNB1 AP-1 transcription factor network pid 71
CTNNB1 Apoptotic cleavage of cell adhesion proteins reactome 11
CTNNB1 Arf6 trafficking events pid 48
CTNNB1 BCR netpath 161
CTNNB1 Beta-catenin phosphorylation cascade reactome 17
CTNNB1 Beta catenin degradation signaling (Canonical) ( C. elegans endoderm induction Wnt signaling pathway Diagram ) inoh 8
CTNNB1 Beta catenin degradation signaling (Canonical) ( Canonical Wnt signaling pathway Diagram ) inoh 8
CTNNB1 Beta catenin degradation signaling (Canonical) ( Drosophila Wingless/Wnt signaling pathway Diagram ) inoh 8
CTNNB1 Beta catenin degradation signaling (Canonical) ( Mammalian Wnt signaling pathway Diagram ) inoh 8
CTNNB1 Beta catenin degradation signaling (Canonical) ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 8
CTNNB1 Beta catenin degradation signaling (Mammal) ( Mammalian Wnt signaling pathway Diagram ) inoh 8
CTNNB1 Binding of TCF/LEF:CTNNB1 to target gene promoters reactome 7
CTNNB1 Ca2+ pathway reactome 62
CTNNB1 Cadherin signaling pathway panther 147
CTNNB1 Canonical Wnt signaling pathway ( C. elegans endoderm induction Wnt signaling pathway Diagram ) inoh 56
CTNNB1 Canonical Wnt signaling pathway ( Canonical Wnt signaling pathway Diagram ) inoh 56
CTNNB1 Canonical Wnt signaling pathway ( Drosophila Wingless/Wnt signaling pathway Diagram ) inoh 56
CTNNB1 Canonical Wnt signaling pathway ( Mammalian Wnt signaling pathway Diagram ) inoh 56
CTNNB1 Canonical Wnt signaling pathway ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 56
CTNNB1 Canonical Wnt signaling pathway pid 21
CTNNB1 CDC42 signaling events pid 71
CTNNB1 CDO in myogenesis reactome 29
CTNNB1 Coregulation of Androgen receptor activity pid 61
CTNNB1 Deactivation of the beta-catenin transactivating complex reactome 42
CTNNB1 Degradation of beta-catenin by the destruction complex reactome 67
CTNNB1 Degradation of beta catenin pid 18
CTNNB1 Disassembly of the destruction complex and recruitment of AXIN to the membrane reactome 31
CTNNB1 E-cadherin signaling in keratinocytes pid 21
CTNNB1 E-cadherin signaling in the nascent adherens junction pid 37
CTNNB1 Formation of the beta-catenin:TCF transactivating complex reactome 88
CTNNB1 FoxO family signaling pid 50
CTNNB1 Hedgehog netpath 39
CTNNB1 IL5 netpath 59
CTNNB1 Integrin-linked kinase signaling pid 46
CTNNB1 LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production reactome 5
CTNNB1 Mammalian Wnt signaling pathway ( Mammalian Wnt signaling pathway Diagram ) inoh 49
CTNNB1 Misspliced GSK3beta mutants stabilize beta-catenin reactome 15
CTNNB1 N-cadherin signaling events pid 36
CTNNB1 Nectin adhesion pathway pid 30
CTNNB1 p53 pathway feedback loops 2 panther 42
CTNNB1 Posttranslational regulation of adherens junction stability and dissassembly pid 50
CTNNB1 Presenilin action in Notch and Wnt signaling pid 46
CTNNB1 RAC1 signaling pathway pid 54
CTNNB1 Regulation of nuclear beta catenin signaling and target gene transcription pid 80
CTNNB1 Repression of WNT target genes reactome 14
CTNNB1 RHO GTPases activate IQGAPs reactome 13
CTNNB1 S33 mutants of beta-catenin aren't phosphorylated reactome 15
CTNNB1 S37 mutants of beta-catenin aren't phosphorylated reactome 15
CTNNB1 S45 mutants of beta-catenin aren't phosphorylated reactome 15
CTNNB1 Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) pid 80
CTNNB1 Signaling events mediated by VEGFR1 and VEGFR2 pid 69
CTNNB1 Signaling with Wnt (Canonical) ( C. elegans endoderm induction Wnt signaling pathway Diagram ) inoh 47
CTNNB1 Signaling with Wnt (Canonical) ( Canonical Wnt signaling pathway Diagram ) inoh 47
CTNNB1 Signaling with Wnt (Canonical) ( Drosophila Wingless/Wnt signaling pathway Diagram ) inoh 47
CTNNB1 Signaling with Wnt (Canonical) ( Mammalian Wnt signaling pathway Diagram ) inoh 47
CTNNB1 Signaling with Wnt (Canonical) ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 47
CTNNB1 Signaling with Wnt (Mammal) ( Mammalian Wnt signaling pathway Diagram ) inoh 47
CTNNB1 Stabilization and accumulation of cytoplasmic beta-catenin (Canonical) ( C. elegans endoderm induction Wnt signaling pathway Diagram ) inoh 24
CTNNB1 Stabilization and accumulation of cytoplasmic beta-catenin (Canonical) ( Canonical Wnt signaling pathway Diagram ) inoh 24
CTNNB1 Stabilization and accumulation of cytoplasmic beta-catenin (Canonical) ( Drosophila Wingless/Wnt signaling pathway Diagram ) inoh 24
CTNNB1 Stabilization and accumulation of cytoplasmic beta-catenin (Canonical) ( Mammalian Wnt signaling pathway Diagram ) inoh 24
CTNNB1 Stabilization and accumulation of cytoplasmic beta-catenin (Canonical) ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 24
CTNNB1 Stabilization and accumulation of cytoplasmic beta-catenin (Mammal) ( Mammalian Wnt signaling pathway Diagram ) inoh 24
CTNNB1 Stabilization and expansion of the E-cadherin adherens junction pid 43
CTNNB1 Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) reactome 20
CTNNB1 T41 mutants of beta-catenin aren't phosphorylated reactome 15
CTNNB1 TCF dependent signaling in response to WNT reactome 31
CTNNB1 TCR netpath 261
CTNNB1 TGF-beta receptor signaling pid 53
CTNNB1 TGF_beta_Receptor netpath 220
CTNNB1 TWEAK netpath 35
CTNNB1 VEGFR2 mediated vascular permeability reactome 29
CTNNB1 Wnt netpath 118
CTNNB1 Wnt signaling pathway panther 250
CTNNB1 Wnt signaling pathway kegg 135
CTNNB1 Focal adhesion kegg 197
CTNNB1 Adherens junction kegg 70
CTNNB1 Tight junction kegg 131
CTNNB1 Leukocyte transendothelial migration kegg 116
CTNNB1 Melanogenesis kegg 100
CTNNB1 Bacterial invasion of epithelial cells kegg 70
CTNNB1 Pathogenic Escherichia coli infection kegg 49
CTNNB1 Pathways in cancer kegg 321
CTNNB1 Colorectal cancer kegg 63
CTNNB1 Endometrial cancer kegg 52
CTNNB1 Prostate cancer kegg 85
CTNNB1 Thyroid cancer kegg 25
CTNNB1 Basal cell carcinoma kegg 51
CTNNB1 Arrhythmogenic right ventricular cardiomyopathy (ARVC) kegg 71
CTNNB1 Hs_Cytokines_and_Inflammatory_Response_WP530_79331 wikipathways 21
CTNNB1 Hs_Corticotropin-releasing_hormone_signaling_pathway_WP2355_90017 wikipathways 41
CTNNB1 Hs_Association_Between_Physico-Chemical_Features_and_Toxicity_Associated_Pathways_WP3680_90113 wikipathways 31
CTNNB1 Hs_Focal_Adhesion_WP306_80308 wikipathways 26
CTNNB1 Hs_Gastric_Cancer_Network_2_WP2363_87523 wikipathways 28
CTNNB1 Hs_Primary_Focal_Segmental_Glomerulosclerosis_FSGS_WP2572_90019 wikipathways 7
CTNNB1 Hs_Wnt_Signaling_Pathway_Netpath_WP363_78571 wikipathways 28
CTNNB1 Hs_MECP2_and_Associated_Rett_Syndrome_WP3584_91190 wikipathways 12
CTNNB1 Hs_Integrated_Breast_Cancer_Pathway_WP1984_82941 wikipathways 122
CTNNB1 Hs_Endoderm_Differentiation_WP2853_88152 wikipathways 62
CTNNB1 Hs_VEGFA-VEGFR2_Signaling_Pathway_WP3888_90000 wikipathways 153
CTNNB1 Hs_Neural_Crest_Differentiation_WP2064_79263 wikipathways 40
CTNNB1 Hs_TNF_related_weak_inducer_of_apoptosis_(TWEAK)_Signaling_Pathway_WP2036_89910 wikipathways 27
CTNNB1 Hs_Rac1-Pak1-p38-MMP-2_pathway_WP3303_87628 wikipathways 32
CTNNB1 Hs_Heart_Development_WP1591_90186 wikipathways 28
CTNNB1 Hs_ESC_Pluripotency_Pathways_WP3931_91005 wikipathways 13
CTNNB1 Hs_Pathogenic_Escherichia_coli_infection_WP2272_78594 wikipathways 7
CTNNB1 Hs_Wnt_Signaling_Pathway_and_Pluripotency_WP399_90291 wikipathways 12
CTNNB1 Hs_Ectoderm_Differentiation_WP2858_89329 wikipathways 56
CTNNB1 Hs_Brain-Derived_Neurotrophic_Factor_(BDNF)_signaling_pathway_WP2380_89803 wikipathways 80
LEF1 Alzheimer disease-presenilin pathway panther 98
LEF1 Binding of TCF/LEF:CTNNB1 to target gene promoters reactome 7
LEF1 C-MYB transcription factor network pid 87
LEF1 Ca2+ pathway reactome 62
LEF1 Cadherin signaling pathway panther 147
LEF1 Canonical Wnt signaling pathway ( C. elegans endoderm induction Wnt signaling pathway Diagram ) inoh 56
LEF1 Canonical Wnt signaling pathway ( Canonical Wnt signaling pathway Diagram ) inoh 56
LEF1 Canonical Wnt signaling pathway ( Drosophila Wingless/Wnt signaling pathway Diagram ) inoh 56
LEF1 Canonical Wnt signaling pathway ( Mammalian Wnt signaling pathway Diagram ) inoh 56
LEF1 Canonical Wnt signaling pathway ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 56
LEF1 Deactivation of the beta-catenin transactivating complex reactome 42
LEF1 Formation of the beta-catenin:TCF transactivating complex reactome 88
LEF1 Integrin-linked kinase signaling pid 46
LEF1 Mammalian Wnt signaling pathway ( Mammalian Wnt signaling pathway Diagram ) inoh 49
LEF1 Notch netpath 76
LEF1 Regulation of nuclear beta catenin signaling and target gene transcription pid 80
LEF1 Repression of WNT target genes reactome 14
LEF1 Signaling with Wnt (Canonical) ( C. elegans endoderm induction Wnt signaling pathway Diagram ) inoh 47
LEF1 Signaling with Wnt (Canonical) ( Canonical Wnt signaling pathway Diagram ) inoh 47
LEF1 Signaling with Wnt (Canonical) ( Drosophila Wingless/Wnt signaling pathway Diagram ) inoh 47
LEF1 Signaling with Wnt (Canonical) ( Mammalian Wnt signaling pathway Diagram ) inoh 47
LEF1 Signaling with Wnt (Canonical) ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 47
LEF1 Signaling with Wnt (Mammal) ( Mammalian Wnt signaling pathway Diagram ) inoh 47
LEF1 Signaling with Wnt (Xenopus) ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 19
LEF1 Signaling without Wnt (Canonical) ( C. elegans endoderm induction Wnt signaling pathway Diagram ) inoh 8
LEF1 Signaling without Wnt (Canonical) ( Canonical Wnt signaling pathway Diagram ) inoh 8
LEF1 Signaling without Wnt (Canonical) ( Drosophila Wingless/Wnt signaling pathway Diagram ) inoh 8
LEF1 Signaling without Wnt (Canonical) ( Mammalian Wnt signaling pathway Diagram ) inoh 8
LEF1 Signaling without Wnt (Canonical) ( Xenopus axis formation Wnt signaling pathway Diagram ) inoh 8
LEF1 Signaling without Wnt (Mammal) ( Mammalian Wnt signaling pathway Diagram ) inoh 8
LEF1 TGF_beta_Receptor netpath 220
LEF1 Wnt netpath 118
LEF1 Wnt signaling pathway panther 250
LEF1 Wnt signaling pathway kegg 135
LEF1 Adherens junction kegg 70
LEF1 Melanogenesis kegg 100
LEF1 Pathways in cancer kegg 321
LEF1 Colorectal cancer kegg 63
LEF1 Endometrial cancer kegg 52
LEF1 Prostate cancer kegg 85
LEF1 Acute myeloid leukemia kegg 53
LEF1 Arrhythmogenic right ventricular cardiomyopathy (ARVC) kegg 71
LEF1 Hs_Wnt_Signaling_Pathway_Netpath_WP363_78571 wikipathways 28
LEF1 Hs_Endoderm_Differentiation_WP2853_88152 wikipathways 62
LEF1 Hs_Mesodermal_Commitment_Pathway_WP2857_87780 wikipathways 47

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer

Enhancer associated SNPs