Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_04778 |
| Species: | Homo sapiens |
| Position : | chr17:42078865-42079198 |
| Year: | 2012 |
| Title: | Transcriptional regulation of N-acetylglutamate synthase. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 22383952 |
| Tissue: | liver |
| Tissue Ontology ID: | UBERON:0002107 |
| Cell Source: | Hep G2 |
| CVCL ID: | CVCL_0027 |
| Cell Type: | hepatocyte |
| Cell Ontology ID: | CL:0000182 |
| Experiment Type: | Enhancer activity assay; TF-binding/chromatin assay |
| Low Throughput Method: | Luciferase reporter assay; Reporter assay; ChIP-qPCR/ChIP; RT-qPCR/qPCR |
| Target gene : | NAGS |
| TF name : | HNF1A |
| Regulatory State : | Active |
| 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 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_04779 | chr17:42078865-42079198 | liver | hepatocyte | NA |
| E_04780 | chr17:42078865-42079198 | liver | hepatocyte | NA |
| E_03164 | chr17:42078932-42079032 | NA | NA | NA |