About Enhancer
| Enhancer ID: | E_00397 |
| Species: | Homo sapiens |
| Position : | chr14:23437399-23439399   |
| Year: | 2021 |
| Title: | Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | cardiomyopathy |
| PMID: | 33478249 |
| MONDO: | MONDO:0004994 |
| Tissue: | heart |
| Tissue Ontology ID: | UBERON:0000948 |
| Cell Source: | human induced pluripotent stem cell-derived cardiomyocytes |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer variant functional assay; endogenous enhancer deletion; target-gene expression; cardiac phenotype; Chromatin interaction assay; Disease-variant functional analysis |
| High Throughput Method: | ATAC-seq; H3K27ac profiling; promoter-capture chromatin conformation analysis; Capture-C |
| Low Throughput Method: | CRISPR/Cas9 enhancer deletion; TBX5 motif analysis; gene-expression assay; engineered heart tissue contractility assay |
About Target Gene
| Target gene : | MYH7 |
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 (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer