About Enhancer
| Enhancer ID: | E_04413 |
| Species: | Homo sapiens |
| Position : | chr17:69487560-69491400   |
| Year: | 2015 |
| Title: | Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Disorders Of Sexual Development |
| PMID: | 25604083 |
| Cell Source: | HEK-293 |
| CVCL ID: | CVCL_0045 |
| Experiment Type: | Enhancer activity assay; In vivo functional validation; Disease-associated enhancer analysis |
| Low Throughput Method: | Luciferase reporter assay; Reporter assay; Transgenic/LacZ assay |
About Target Gene
| Target gene : | SOX9 |
About TF
| TF name : | NR5A1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| NR5A1 | Nuclear Receptor transcription pathway | reactome | 51 |
| NR5A1 | Transcriptional regulation of pluripotent stem cells | reactome | 28 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04414 | chr17:69487560-69491400 | NA | NA | Disorders Of Sexual Development |
Expression of Target Genes for the Enhancer