About Enhancer
| Enhancer ID: | E_02_0983 |
| Species: | human |
| Position : | chrx:30317939-30318739   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | X-linked congenital adrenal hypoplasia |
| Pubmed ID: | 19773398 |
| Enhancer experiment: | Luciferase Reporter Assay,PCR |
| Enhancer experiment description: | Luciferase reporter gene activity in transiently transfected HEK293 cells. Relative luciferase activity refers to the activity of the firefly reporter gene normalized to Renilla luciferase internal control for transfection efficiency. Firefly reporter constructs contained the DAX1 conserved noncoding enhancer elements upstream of a minimal thymidine kinase promoter driving the firefly reporter. |
About Target gene
| Target gene : | NR0B1(AHC,AHCH,AHX,DAX-1,DAX1,DSS,GTD,HHG,NROB1,SRXY2) |
| Strong evidence: | -- |
| Less strong evidence: | Luciferase Reporter Assay,PCR |
| Target gene experiment description: | Our results therefore strongly suggest the existence of an SF-1 binding site 4kb upstream of NR0B1 that acts as an enhancer of DAX1 expression. |
About TF
| TF name : | NR5A1(AD4BP,ELP,FTZ1,FTZF1,POF7,SF-1,SF1,SPGF8,SRXX4,SRXY3,hSF-1) |
| TF experiment: | Luciferase Reporter Assay |
| TF experiment description: | Luciferase reporter gene activity in transiently transfected HEK293 cells. Relative luciferase activity refers to the activity of the firefly reporter gene normalized to Renilla luciferase internal control for transfection efficiency. The mutant CNE is unresponsive to the transcription enhancement seen in the presence of cotransfected SF-1. |
About Function
| Enhancer function : | A reporter construct lacking this Enhancer element upstream of NR0B1 was unresponsive to SF-1 transcriptional activation. |
| Enhancer function experiment: | Luciferase Reporter Assay |
| Enhancer function experiment description: |
SF-1 acted as an activator on the wild-type construct, whereas the mutant construct,lacking the SF-1 consensus binding site, showed no response to SF-1. |
About SNP
| SNP ID: | -- |
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
The number on yellow line represents the distance between enhancer and
target gene