Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00433
Species: Homo sapiens
Position : chr6:44500000-45600000
Year: 2019
Title: Lineage-specific RUNX2 super-enhancer activates MYC and promotes the development of blastic plasmacytoid dendritic cell neoplasm
Genome Build: hg19
Enhancer Type: Super-enhancer
Condition: Disease
Disease Name: blastic plasmacytoid dendritic cell neoplasm
PMID:  30971697
MONDO: MONDO:0019474
Tissue: Hematopoietic tissue
Tissue Ontology ID: UBERON:0002415
Cell Source: CAL-1 BPDCN
CVCL ID: CVCL_5G46
Cell Type: plasmacytoid dendritic cell
Cell Ontology ID: CL:0000786
Experiment Type: Enhancer activity assay, TF binding assay, Chromatin interaction assay, Functional perturbation assay
High Throughput Method: ChIP-seq, RNA-seq, Whole-genome sequencing
Low Throughput Method: 3C-RT-qPCR, CRISPR Knockout, ChIP-RT-qPCR, qRT-PCR, Western blot, FISH
About Target Gene
Target gene : MYC
About TF
TF name : RUNX2
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
RUNX2 AndrogenReceptor netpath 167
RUNX2 FGF signaling pathway pid 55
RUNX2 Leptin netpath 98
RUNX2 Notch-mediated HES/HEY network pid 48
RUNX2 Regulation of nuclear SMAD2/3 signaling pid 82
RUNX2 Regulation of retinoblastoma protein pid 67
RUNX2 TGF_beta_Receptor netpath 220
RUNX2 YAP1- and WWTR1 (TAZ)-stimulated gene expression reactome 29
RUNX2 Hs_MAPK_Signaling_Pathway_WP382_79951 wikipathways 58
RUNX2 Hs_Endochondral_Ossification_WP474_87977 wikipathways 43
RUNX2 Hs_Role_of_Osx_and_miRNAs_in_tooth_development_WP3971_91525 wikipathways 9
RUNX2 Hs_Bone_Morphogenic_Protein_(BMP)_Signalling_and_Regulation_WP1425_86082 wikipathways 6
RUNX2 Hs_Focal_Adhesion-PI3K-Akt-mTOR-signaling_pathway_WP3932_91101 wikipathways 8
Enhancer Associated Network
Overlapping Enhancers (hg19) 3 found
Enhancer ID Position Tissue Cell Disease
E_00350 chr6:44500000-45600000 Hematopoietic tissue plasmacytoid dendritic cell blastic plasmacytoid dendritic cell neoplasm
E_00351 chr6:44500000-45600000 Hematopoietic tissue plasmacytoid dendritic cell blastic plasmacytoid dendritic cell neoplasm
E_00519 chr6:45300000-45302000 Bone marrow mesenchymal stem cell --
Expression of Target Genes for the Enhancer