About Enhancer
| Enhancer ID: | E_04140 |
| Species: | Homo sapiens |
| Position : | chrY:2792658-2792907   |
| Year: | 2024 |
| Title: | A conserved NR5A1-responsive enhancer regulates SRY in testis-determination. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | 46,XY disorder of sex development |
| PMID: | 38555298 |
| MONDO: | MONDO:0020040 |
| Tissue: | kidney |
| Tissue Ontology ID: | UBERON:0002113 |
| Cell Source: | HEK293T |
| CVCL ID: | CVCL_0063 |
| Cell Type: | transformed cell line |
| Experiment Type: | Enhancer activity assay; Functional perturbation assay |
| High Throughput Method: | Whole-genome sequencing; DNase-seq (ENCODE) |
| Low Throughput Method: | NR5A1 co-transfection luciferase reporter assay; E250 variant reporter assay; NR5A1-motif disruption reporter assay; Sanger sequencing |
About Target Gene
| Target gene : | SRY |
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 (hg38)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04150 | chrY:2792658-2792907 | testis | Sertoli cell | NA |
Expression of Target Genes for the Enhancer