About Enhancer

Enhancer ID: E_01_0526
Species: human
Position : chr17:43751286-43753286
Biosample name:
Experiment class : High+Lowthroughput
Enhancer type: Enhancer
Disease: Cleft lip, cleft palate
Pubmed ID:  29719267
Enhancer experiment: ChIP-Seq,ChIP
Enhancer experiment description: We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period.

About Target gene

Target gene : SOST(5430411E23Rik),PRDM16
Strong evidence: qRT-PCR,qPCR,ChIP,3C
Less strong evidence: RNA-Seq
Target gene experiment description: We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. ;We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. ;We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. ;We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period.

About TF

TF name : SOX9(CMD1,CMPD1,SRA1,SRXX2,SRXY10)MYC(MRTLC,bHLHe39,c-Myc,MYC)
TF experiment: ChIP-Seq,ChIP
TF experiment description: We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. ;We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. ;We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period. ;We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period.

About Function

Enhancer function : We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period.
Enhancer function experiment: Immunohistochemical staining
Enhancer function
experiment description:		 We demonstrate significant enrichment of common variants associated with orofacial clefting in enhancers active early in embryonic development, while those associated with normal facial variation are enriched near the end of the embryonic period.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
SOX9 Deactivation of the beta-catenin transactivating complex reactome 42
SOX9 TGF_beta_Receptor netpath 220
SOX9 Hs_Neural_Crest_Differentiation_WP2064_79263 wikipathways 40
SOX9 Hs_Spinal_Cord_Injury_WP2431_87678 wikipathways 21
MYC AP-1 transcription factor network pid 71
MYC Binding of TCF/LEF:CTNNB1 to target gene promoters reactome 7
MYC C-MYB transcription factor network pid 87
MYC C-MYC pathway pid 25
MYC CD40/CD40L signaling pid 36
MYC Ceramide signaling pathway pid 49
MYC Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants reactome 57
MYC Constitutive Signaling by NOTCH1 PEST Domain Mutants reactome 57
MYC Cyclin A:Cdk2-associated events at S phase entry reactome 15
MYC Cyclin E associated events during G1/S transition reactome 14
MYC E2F transcription factor network pid 77
MYC EGFR1 netpath 475
MYC Formation of the beta-catenin:TCF transactivating complex reactome 88
MYC FOXM1 transcription factor network pid 43
MYC IL2-mediated signaling events pid 54
MYC IL2 signaling events mediated by PI3K pid 38
MYC IL2 signaling events mediated by STAT5 pid 30
MYC IL6-mediated signaling events pid 48
MYC Interleukin signaling pathway panther 86
MYC LKB1 signaling events pid 43
MYC MAPK6/MAPK4 signaling reactome 90
MYC Notch signaling pathway pid 58
MYC NOTCH1 Intracellular Domain Regulates Transcription reactome 47
MYC Oxidative stress response panther 23
MYC p53 pathway feedback loops 2 panther 42
MYC p73 transcription factor network pid 80
MYC PDGF signaling pathway panther 113
MYC PDGFR-beta signaling pathway pid 125
MYC Presenilin action in Notch and Wnt signaling pid 46
MYC Prolactin netpath 105
MYC Regulation of nuclear beta catenin signaling and target gene transcription pid 80
MYC Regulation of nuclear SMAD2/3 signaling pid 82
MYC Regulation of Telomerase pid 70
MYC SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription reactome 32
MYC TGF_beta_Receptor netpath 220
MYC Validated nuclear estrogen receptor alpha network pid 65
MYC Validated targets of C-MYC transcriptional activation pid 80
MYC Validated targets of C-MYC transcriptional repression pid 63
MYC MAPK signaling pathway kegg 264
MYC ErbB signaling pathway kegg 83
MYC Cell cycle kegg 124
MYC Wnt signaling pathway kegg 135
MYC TGF-beta signaling pathway kegg 82
MYC Jak-STAT signaling pathway kegg 149
MYC Pathways in cancer kegg 321
MYC Colorectal cancer kegg 63
MYC Endometrial cancer kegg 52
MYC Thyroid cancer kegg 25
MYC Bladder cancer kegg 38
MYC Chronic myeloid leukemia kegg 69
MYC Acute myeloid leukemia kegg 53
MYC Small cell lung cancer kegg 83
MYC Hs_DNA_Damage_Response_(only_ATM_dependent)_WP710_79974 wikipathways 36
MYC Hs_TP53_Network_WP1742_71700 wikipathways 10
MYC Hs_Imatinib_and_Chronic_Myeloid_Leukemia_WP3640_89384 wikipathways 11
MYC Hs_miRNAs_involved_in_DNA_damage_response_WP1545_84697 wikipathways 30
MYC Hs_Association_Between_Physico-Chemical_Features_and_Toxicity_Associated_Pathways_WP3680_90113 wikipathways 31
MYC Hs_Gastric_Cancer_Network_2_WP2363_87523 wikipathways 28
MYC Hs_Hepatitis_C_and_Hepatocellular_Carcinoma_WP3646_88640 wikipathways 36
MYC Hs_Apoptosis_WP254_88977 wikipathways 31
MYC Hs_Integrated_Breast_Cancer_Pathway_WP1984_82941 wikipathways 122
MYC Hs_Neural_Crest_Differentiation_WP2064_79263 wikipathways 40
MYC Hs_IL-5_Signaling_Pathway_WP127_78498 wikipathways 35
MYC Hs_Prolactin_Signaling_Pathway_WP2037_90015 wikipathways 52
MYC Hs_EGF-EGFR_Signaling_Pathway_WP437_79266 wikipathways 107
MYC Hs_IL-7_Signaling_Pathway_WP205_89854 wikipathways 16

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