About Enhancer
| Enhancer ID: | E_03164 |
| Species: | Homo sapiens |
| Position : | chr17:42078932-42079032   |
| Year: | 2011 |
| Title: | N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 21681857 |
| Cell Source: | Ureagenesis |
| Experiment Type: | Enhancer activity assay |
| Low Throughput Method: | Luciferase reporter assay; Reporter assay |
About Target Gene
| Target gene : | NAGS |
About TF
| TF name : | HNF1A |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| HNF1A | FOXA2 and FOXA3 transcription factor networks | pid | 45 |
| HNF1A | IL6 | netpath | 85 |
| HNF1A | Presenilin action in Notch and Wnt signaling | pid | 46 |
| HNF1A | Regulation of gene expression in beta cells | reactome | 17 |
| HNF1A | Maturity onset diabetes of the young | kegg | 25 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
9 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03068 | chr17:42078635-42079129 | liver | hepatocyte | NA |
| E_04769 | chr17:42078767-42079095 | liver | epithelial cell | NA |
| E_04770 | chr17:42078767-42079095 | liver | epithelial cell | NA |
| E_04785 | chr17:42078767-42079095 | liver | epithelial cell | NA |
| E_03116 | chr17:42078768-42079095 | liver | hepatocyte-lineage cell | hyperammonemia due to N-acetylglutamate synthase deficiency |
| E_03121 | chr17:42078768-42079095 | liver | malignant cell | hyperammonemia due to N-acetylglutamate synthase deficiency |
| E_04778 | chr17:42078865-42079198 | liver | hepatocyte | NA |
| E_04779 | chr17:42078865-42079198 | liver | hepatocyte | NA |
| E_04780 | chr17:42078865-42079198 | liver | hepatocyte | NA |
Expression of Target Genes for the Enhancer