About Enhancer
| Enhancer ID: | E_02_049 | |
| Enhancer symbol: | Scn5a Enhancer | |
| Species: | Mouse | |
| Position : | chr9:119469902-119469913   |
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| Biosample name: | HL-1 | |
| Experiment class : | Low+High throughput |
| Enhancer type: | Enhancer | |
| Disease: | Cardiac Conduction System Disease | |
| DO: | DOID:10273 | |
| Mesh: | D000075224 | |
| Distance from TSS: | >2KB | |
| Pubmed ID: | 22728936 |
| Enhancer experiment: | Luciferase Reporter Assay,ChIP-seq | |
| Enhancer experiment description: | We tested the ability of this putative enhancer to activate transcription in a TBX5-dependent manner. TBX5 dramatically upregulated enhancer-dependent luciferase reporter expression from this genomic region (chr9:119,378,051–119,379,479;NCBI build 37/mm9) in vitro (Figure 6B). |
About Target gene
| Target gene : | Scn5a(Nav1.5,Nav1.5c,SkM1,SkM2,mH1) | |
| Strong evidence: | -- | |
| Less strong evidence: | Luciferase Reporter Assay | |
| Target gene experiment description: | We tested the ability of this putative enhancer to activate transcription in a TBX5-dependent manner. TBX5 dramatically upregulated enhancer-dependent luciferase reporter expression from this genomic region (chr9:119,378,051–119,379,479;NCBI build 37/mm9) in vitro (Figure 6B). |
About TF
| TF name : | Tbx5(HOS) | |
| TF experiment: | ChIP-seq | |
| TF experiment description: | We bioinformatically interrogated the Scn5a locus to identify potential TBX5-responsive Enhancers using the overlap of 4 independent data sets: (a) evolutionary conservation (21);(b) ChIP-seq studies identifying TBX5 binding sites in the atrial cardiomyocyte HL-1 cell line. |
About Function
| Enhancer function : | TBX5-responsive Enhancer downstream of Scn5a sufficient to drive VCS expression in vivo, dependent on canonical T-box binding sites. |
| Enhancer function experiment: | ChIP-seq |
| Enhancer function experiment description: |
Here, we found a direct molecular link between TBX5 and Scn5a via a TBX5-respon_x005f_x0002_sive downstream Enhancer that was sufficient to direct VCS-specif-ic gene expression. Our results identified a TBX5-Scn5a molecular network essential for function of the mature VCS. |
About SNP
| SNP ID: | -- | |
| SNP position: | -- |
| SNP experiment: | -- |
Enhancer associated network
The number on yellow line represents the distance between enhancer and target gene
