About Enhancer
| Enhancer ID: | E_02_0962 |
| Species: | human |
| Position : | chr17:42078932-42079032   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | -- |
| Pubmed ID: | 21681857 |
| Enhancer experiment: | Luciferase Reporter Assay |
| Enhancer experiment description: | The remaining change, a homozygous CA 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 patients 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: |
-- |
About SNP
| SNP ID: | -- |
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
The number on yellow line represents the distance between enhancer and
target gene