Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_02409
Species: Mus musculus
Position : chr9:119378051-119379479
Year: 2012
Title: TBX5 drives Scn5a expression to regulate cardiac conduction system function.
Genome Build: mm9
Enhancer Type: Enhancer
Condition: Normal
PMID:  22728936
Tissue: heart
Tissue Ontology ID: UBERON:0000948
Cell Source: mouse ventricular conduction system
Cell Type: cardiac muscle cell
Cell Ontology ID: CL:0000746
Experiment Type: In vivo enhancer validation; TF-site functional dissection; Disease-variant functional analysis; In vivo functional validation
High Throughput Method: ChIP-seq / cardiac regulatory profiling; GWAS
Low Throughput Method: Transgenic lacZ reporter; luciferase assay; T-box motif mutagenesis; RT-qPCR; In vivo phenotyping
About Target Gene
Target gene : Scn5a
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) 2 found
Enhancer ID Position Tissue Cell Disease
E_02410 chr9:119378051-119379479 heart cardiac muscle cell NA
E_02439 chr9:119378051-119379479 heart cardiac conduction system cell NA
Expression of Target Genes for the Enhancer