About Enhancer
| Enhancer ID: | E_01_091 | |
| Enhancer symbol: | NAGS Enhancer | |
| Species: | Human | |
| Position : | chr17:42078932-42079032   |
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| Biosample name: | Ureagenesis | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer | |
| Disease: | -- | |
| DO: | -- | |
| Mesh: | -- | |
| Distance from TSS: | >2KB | |
| Pubmed ID: | 21681857 |
| Enhancer experiment: | Luciferase Reporter Assay | |
| Enhancer experiment description: | The remaining change, a homozygous C–A transversion 3,064--bp upstream of the NAGS translation start codon (c.--3064C > A) (Supp. Fig. S1), was determined to be in the recently identified hepatic nuclear factor 1 (HNF--1)bindingsiteofaconservedNAGSregulatoryregion(Fig.4).Transcription factor binding sites in the NAGS enhancer.Transcription factors HNF--1 and NF--Y bind with in the human NAGS enhancer. |
About Target gene
| Target gene : | NAGS(AGAS,ARGA) | |
| Strong evidence: | -- | |
| Less strong evidence: | Luciferase Reporter Assay | |
| Target gene experiment description: | The functional effect of the mutation on NAGS transcription was examined using a luciferase reporter assay, driven by the NAGS enhancer with either the wild--type, mutated, or consensus HNF--1 binding sites.Cells were cotransfected with vector pGL4.74, containing Renilla luciferase hRluc, as a transfection efficiency control. |
About TF
| TF name : | HNF1A(HNF-1A,HNF1,HNF4A,IDDM20,LFB1,MODY3,TCF-1,TCF1) | |
| TF experiment: | Luciferase Reporter Assay | |
| TF experiment description: | The functional effect of the mutation on NAGS transcription was examined using aLuciferase assay,driven by the NAGS Enhancer with either the wild-type,mutated,or consensus HNF-1 binding sites. Reporter plasmids included the NAGS wild-type promoter with the wild-type Enhancer,4.10WT,the Enhancer containing the patient’s mutation -3064C>A,4.10Pat,or the Enhancer containing the consensus HNF-1 binding site,4.10Con (Fig. 5A). |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
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About SNP
| SNP ID: | -- | |
| SNP position: | -- |
| SNP experiment: | -- |
Enhancer associated network
The number on yellow line represents the distance between enhancer and target gene
