About Enhancer
| Enhancer ID: | E_00351 |
| 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: | 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 |
| 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: | CRISPR Knockout, 3C-RT-qPCR, RT-RT-qPCR, 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_00433 | 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