About Enhancer
| Enhancer ID: | E_03708 |
| Species: | Homo sapiens |
| Position : | chr10:43568986-43571244   |
| Year: | 2015 |
| Title: | SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Hirschsprung disease |
| PMID: | 25267720 |
| MONDO: | MONDO:0018309 |
| Tissue: | peripheral nervous system |
| Tissue Ontology ID: | UBERON:0000010 |
| Cell Source: | Neuro-2a |
| CVCL ID: | CVCL_0470 |
| Cell Type: | neural crest derived neuroblast |
| Cell Ontology ID: | CL:0002676 |
| Experiment Type: | Enhancer activity assay; TF binding assay; Functional perturbation assay |
| Low Throughput Method: | Luciferase reporter assay; PAX3/SOX10/SRY transfection; ChIP-qPCR; GST pull-down assay; co-immunoprecipitation; mammalian two-hybrid assay; RT-qPCR; Western blot |
About Target Gene
| Target gene : | RET |
About TF
| TF name : | PAX3 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| PAX3 | HATs acetylate histones | reactome | 142 |
| PAX3 | Regulation of retinoblastoma protein | pid | 67 |
| PAX3 | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 |
| PAX3 | Hs_Ectoderm_Differentiation_WP2858_89329 | wikipathways | 56 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
10 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03815 | chr10:43568986-43571244 | blood / hematopoietic system | NA | Hirschsprung Disease |
| E_03816 | chr10:43568986-43571244 | blood / hematopoietic system | NA | Hirschsprung Disease |
| E_03368 | chr10:43569015-43569494 | NA | neuroblastoma cell line | neuroblastoma |
| E_03400 | chr10:43569045-43569456 | NA | malignant cell | NA |
| E_03401 | chr10:43569045-43569456 | NA | malignant cell | NA |
| E_03398 | chr10:43569296-43572684 | NA | malignant cell | NA |
| E_03399 | chr10:43569296-43572684 | NA | malignant cell | NA |
| E_03709 | chr10:43571244-43572713 | peripheral nervous system | neural crest derived neuroblast | Hirschsprung disease |
| E_03817 | chr10:43571244-43572713 | blood / hematopoietic system | NA | Hirschsprung Disease |
| E_03818 | chr10:43571244-43572713 | blood / hematopoietic system | NA | Hirschsprung Disease |
Expression of Target Genes for the Enhancer