About Enhancer
| Enhancer ID: | E_03121 |
| Species: | Homo sapiens |
| Position : | chr17:42078768-42079095   |
| 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: | Disease |
| Disease Name: | hyperammonemia due to N-acetylglutamate synthase deficiency |
| PMID: | 21681857 |
| MONDO: | MONDO:0009377 |
| Tissue: | liver |
| Tissue Ontology ID: | UBERON:0002107 |
| Cell Source: | HepG2 enhancer-reporter model |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Disease-variant enhancer activity; TF-binding assay |
| High Throughput Method: | None (focal candidate-locus study); 4C |
| Low Throughput Method: | Sanger sequencing; luciferase reporter; HNF1 DNA-binding assay; stable isotope ureagenesis; N-carbamylglutamate therapeutic response |
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_04778 | chr17:42078865-42079198 | liver | hepatocyte | NA |
| E_04779 | chr17:42078865-42079198 | liver | hepatocyte | NA |
| E_04780 | chr17:42078865-42079198 | liver | hepatocyte | NA |
| E_03164 | chr17:42078932-42079032 | NA | NA | NA |
Expression of Target Genes for the Enhancer