About Enhancer

Enhancer ID: E_02_0898
Species: human
Position : chr8:130179643-130181490
Biosample name:
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: T-cell acute lymphoblastic leukemia
Pubmed ID:  25194570
Enhancer experiment: ChIP-seq,ChIP,Luciferase Reporter Assay,3C,PCR
Enhancer experiment description: This highly conserved regulatory element, hereby named N-Me for NOTCH MYC enhancer, is located within a broad super-enhancer region +1.47 Mb from the MYC transcription initiating site,interacts with the MYC proximal promoter and induces orientation-independent MYC expression in reporter assays.Moreover, luciferase reporter assays showed strong, orientationindependent activation of reporter constructs containing this enhancer in association with a ?2.5 kb MYC proximal promoter21 in JURKAT T-ALL cells,which express high levels of constitutively active NOTCH1 protein 22, but not in Daudi and Raji B-cell lineage cells.

About Target gene

Target gene : MYC(MRTLC,bHLHe39,c-Myc)
Strong evidence: --
Less strong evidence: Luciferase Reporter Assay,PCR
Target gene experiment description: Consistent with this hypothesis, chromatin configuration 3C analysis of the MYC locus demonstrated the association of this enhancer with proximal regulatory sequences in the MYC promoter.Moreover, histological analysis of multiple tissues including those in which NOTCH signaling plays important developmental roles such as breast epithelium, skin, and intestine showed no alterations (Supplementary Fig. 7) and RT-PCR analysis showed no effects of N_x0002_Me deletion in Myc expression.

About TF

TF name : NOTCH1(AOS5,AOVD1,TAN1,hN1)
TF experiment: ChIP,ChIP-seq
TF experiment description: Interestingly, chromatin immunoprecipitation (ChIP) followed by next generation sequencing (ChIP-seq) analysis of NOTCH1 chromatin binding sites in HPB-ALL T-ALL cells revealed a prominent 1 kb NOTCH1 peak in chromosome 8q24 located within the common 40 Kb segment duplicated in all these eight leukemia cases.

About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
experiment description:
--

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
NOTCH1 A third proteolytic cleavage releases NICD reactome 9
NOTCH1 Activated NOTCH1 Transmits Signal to the Nucleus reactome 30
NOTCH1 Alzheimer disease-presenilin pathway panther 98
NOTCH1 Angiogenesis panther 141
NOTCH1 C. elegans Notch signaling pathway ( Notch signaling pathway Diagram ) inoh 8
NOTCH1 Canonical Notch signaling pathway ( Notch signaling pathway Diagram ) inoh 19
NOTCH1 Constitutive Signaling by NOTCH1 HD Domain Mutants reactome 15
NOTCH1 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants reactome 57
NOTCH1 Constitutive Signaling by NOTCH1 PEST Domain Mutants reactome 57
NOTCH1 Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant reactome 7
NOTCH1 Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling reactome 5
NOTCH1 Mammalian Notch signaling pathway ( Notch signaling pathway Diagram ) inoh 15
NOTCH1 NICD traffics to nucleus reactome 13
NOTCH1 Notch-HLH transcription pathway reactome 13
NOTCH1 Notch-mediated HES/HEY network pid 48
NOTCH1 Notch netpath 76
NOTCH1 Notch degradation signaling ( Notch signaling pathway Diagram ) inoh 5
NOTCH1 Notch degradation signaling (Mammal) ( Notch signaling pathway Diagram ) inoh 5
NOTCH1 Notch secretory pathway ( Notch signaling pathway Diagram ) inoh 5
NOTCH1 Notch secretory pathway (C. elegans) ( Notch signaling pathway Diagram ) inoh 5
NOTCH1 Notch signaling pathway panther 27
NOTCH1 Notch signaling pathway pid 58
NOTCH1 NOTCH1 Intracellular Domain Regulates Transcription reactome 47
NOTCH1 Pre-NOTCH Processing in Golgi reactome 18
NOTCH1 Pre-NOTCH Processing in the Endoplasmic Reticulum reactome 6
NOTCH1 Pre-NOTCH Transcription and Translation reactome 29
NOTCH1 Presenilin action in Notch and Wnt signaling pid 46
NOTCH1 Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor reactome 14
NOTCH1 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells reactome 7
NOTCH1 Validated transcriptional targets of deltaNp63 isoforms pid 47
NOTCH1 Dorso-ventral axis formation kegg 25
NOTCH1 Notch signaling pathway kegg 44
NOTCH1 Hs_Gastric_Cancer_Network_1_WP2361_86831 wikipathways 26
NOTCH1 Hs_PI3K-AKT-mTOR_signaling_pathway_and_therapeutic_opportunities_WP3844_89952 wikipathways 5
NOTCH1 Hs_Primary_Focal_Segmental_Glomerulosclerosis_FSGS_WP2572_90019 wikipathways 7
NOTCH1 Hs_Endoderm_Differentiation_WP2853_88152 wikipathways 62
NOTCH1 Hs_Pathways_Affected_in_Adenoid_Cystic_Carcinoma_WP3651_89271 wikipathways 27
NOTCH1 Hs_Heart_Development_WP1591_90186 wikipathways 28
NOTCH1 Hs_Gene_regulatory_network_modelling_somitogenesis_WP2854_87527 wikipathways 12
NOTCH1 Hs_Amplification_and_Expansion_of_Oncogenic_Pathways_as_Metastatic_Traits_WP3678_90110 wikipathways 5

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