About Enhancer
| Enhancer ID: | E_01247 |
| Species: | Homo sapiens |
| Position : | chr10:43552395-43553394   |
| Year: | 2016 |
| Title: | Enhancer variants drive gene regulatory network dysfunction in Hirschsprung disease |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | neuroblastoma |
| PMID: | 27693352 |
| MONDO: | MONDO:0005070 |
| Tissue: | Adrenal gland |
| Tissue Ontology ID: | UBERON:0002369 |
| Cell Source: | Neuroblastoma cell |
| CVCL ID: | |
| Cell Type: | neuroblastoma cell |
| Cell Ontology ID: | CL:0000031 |
| Experiment Type: | Enhancer activity assay, TF binding assay |
| High Throughput Method: | ChIP-seq, DNase-seq |
| Low Throughput Method: | Luciferase Reporter Assay, EMSA |
About Target Gene
| Target gene : | RET |
About TF
| TF name : | GATA2 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| GATA2 | AP-1 transcription factor network | pid | 71 |
| GATA2 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| GATA2 | HIF-1-alpha transcription factor network | pid | 67 |
| GATA2 | IL3 | netpath | 84 |
| GATA2 | Regulation of Androgen receptor activity | pid | 54 |
| GATA2 | Signaling events mediated by HDAC Class I | pid | 89 |
| GATA2 | Signaling events mediated by HDAC Class II | pid | 58 |
| GATA2 | Hs_Apoptosis_WP254_88977 | wikipathways | 31 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer