About Enhancer
| Enhancer ID: | E_00696 |
| Species: | Homo sapiens |
| Position : | chr10:43447346-43448347   |
| 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: | Fetal gut |
| Tissue Ontology ID: | UBERON:0007023 |
| 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 : | RARB |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| RARB | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |
| RARB | Nuclear Receptor transcription pathway | reactome | 51 |
| RARB | Retinoic acid receptors-mediated signaling | pid | 30 |
| RARB | RXR and RAR heterodimerization with other nuclear receptor | pid | 26 |
| RARB | Signaling by Retinoic Acid | reactome | 20 |
| RARB | Pathways in cancer | kegg | 321 |
| RARB | Small cell lung cancer | kegg | 83 |
| RARB | Non-small cell lung cancer | kegg | 54 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer