About Enhancer
| Enhancer ID: | E_02_0931 |
| Species: | human |
| Position : | chr5:172648612-172649177   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | Congenital heart disease |
| Pubmed ID: | 23644027 |
| Enhancer experiment: | PCR,Luciferase Reporter Assay |
| Enhancer experiment description: | The wild type and variant upstream enhancers (566 bp) were generated with PCR, and then subcloned into BamHI and SalI sites of a luciferase gene expression vector with human NKX2-5 gene promoter, which has been previously reportedll expression constructs were confirmed by direct sequencing.HEK-293 cells were cultured in DMEM with 10% fetal bovine serum,1% glutamine and 1% penicillin/streptomycin under 5% CO2 at 37 C. |
About Target gene
| Target gene : | NKX2-5(CHNG5,CSX,CSX1,HLHS2,NKX2.5,NKX2E,NKX4-1,VSD3) |
| Strong evidence: | -- |
| Less strong evidence: | PCR,Luciferase Reporter Assay |
| Target gene experiment description: | To determine the effects of the DSVs on transcriptional activity of the enhancer, wild type and variant enhancers were subcloned upstream to the NKX2-5 gene promoter in the luciferase gene expression vector, which has been previously constructed and reported,to generate expression constructs pGL3-WT, pGL3-17483557Ins,pGL3-17483564T and pGL3-17483576G. These constructs were then transiently transfected into HEK-293 cells and luciferase activities were measured. The results were shown in Fig. 2. Expression levels of pGL3-17483564T and pGL3-17483576G were significantly decreased compared to pGL3-WT. |
About TF
| TF name : | -- |
| TF experiment: | -- |
| TF experiment description: | -- |
About Function
| Enhancer function : | The DSVs within the upstream Enhancer of the NKX2-5 gene may contribute to a small number of VSD. |
| Enhancer function experiment: | Luciferase Reporter Assay |
| Enhancer function experiment description: |
To determine the effects of the DSVs on transcriptional activity of the Enhancer,wild type and variant Enhancers were subcloned upstream to the NKX2-5 gene promoter in the Luciferase gene expression vector,which has been previously constructed and reported. Collectively, these results indicated that the activity of the upstream enhancer of the NKX2-5 gene was decreased by the DSVs g.17483564C>T and g.17483576C>G. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene