About Enhancer
| Enhancer ID: | E_02023 |
| Species: | Mus musculus |
| Position : | chr9:119540801-119544032   |
| Year: | 2021 |
| Title: | Variant Intronic Enhancer Controls SCN10A-short Expression and Heart Conduction. |
| Genome Build: | mm9 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Brugada syndrome |
| PMID: | 33910361 |
| MONDO: | MONDO:0015263 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | primary mouse atrial cardiomyocytes and ventricular conduction-system cardiomyocytes |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Endogenous enhancer perturbation assay; regulatory variant analysis; cardiac electrophysiological assay |
| High Throughput Method: | RNA-seq; TBX5 ChIP-seq; ATAC-seq; GWAS variant mapping; eQTL analysis |
| Low Throughput Method: | CRISPR/Cas9 RE1A/RE1B deletion; 3-bp disruption of the rs6801957 T-box site; RT-qPCR; in situ hybridization; patch-clamp electrophysiology; in vivo electrophysiology; optical mapping; arrhythmia induction; NaV1.8-short functional expression assay; Start/End denote the previously defined mm9 EnhA domain containing the 2021-dissected RE1 elements; CRISPR-Cas9 |
About Target Gene
| Target gene : | Scn10a |
About TF
| TF name : | Tbx5 |
About Regulatory State
| Regulatory State : | Active |
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 |
Enhancer Associated Network
Overlapping Enhancers (mm9)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_02022 | chr9:119540801-119544032 | heart | cardiac muscle cell | atrial fibrillation |
Expression of Target Genes for the Enhancer