About Enhancer
| Enhancer ID: | E_02806 |
| Species: | Homo sapiens |
| Position : | chr12:114853271-114858238   |
| Year: | 2012 |
| Title: | Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Congenital Heart Disease |
| PMID: | 22543974 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | HeLa |
| CVCL ID: | CVCL_0030 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | TF-binding/chromatin assay; Genetic-variant functional analysis; In vivo functional validation; Disease-associated enhancer analysis |
| High Throughput Method: | ChIP-seq |
| Low Throughput Method: | ChIP-qPCR/ChIP; EMSA/gel-shift assay |
About Target Gene
| Target gene : | TBX5 |
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 (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_02810 | chr12:114853271-114858238 | heart | NA | Congenital Heart Disease |
Expression of Target Genes for the Enhancer