About Enhancer
| Enhancer ID: | E_02_0945 |
| Species: | mouse |
| Position : | chr9:119469800-119469811   |
| Biosample name: | |
| Experiment class : | Low+High throughput |
| Enhancer type: | Enhancer |
| Disease: | Cardiac conduction system disease |
| 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 (chr9:119,378,051119,379,479;NCBI build 37/mm9) in vitro (Figure 6B). |
About Target gene
| Target gene : | Scn5a(Nav1.5,Nav1.5c,SkM1,SkM2,mH1),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 (chr9:119,378,051119,379,479;NCBI build 37/mm9) in vitro (Figure 6B). ;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 (chr9:119,378,051119,379,479;NCBI build 37/mm9) in vitro (Figure 6B). |
About TF
| TF name : | Tbx5(HOS)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.;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: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| Tbx5 | Physiological factors | reactome | 12 |
| Tbx5 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| Tbx5 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
| Tbx5 | Physiological factors | reactome | 12 |
| Tbx5 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| Tbx5 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene