About Enhancer
| Enhancer ID: | E_00030 |
| Species: | Homo sapiens |
| Position : | chr14:23906940-23908253   |
| Year: | 2021 |
| Title: | Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | dilated cardiomyopathy |
| PMID: | 33478249 |
| MONDO: | MONDO:0005021 |
| Tissue: | heart left ventricle |
| Tissue Ontology ID: | UBERON:0002084 |
| Cell Source: | GM03348-derived human iPSC cardiomyocytes |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | Enhancer activity assay; endogenous enhancer perturbation assay; regulatory variant functional assay; genotype-phenotype association |
| High Throughput Method: | Promoter Capture Hi-C; ATAC-seq; H3K27ac ChIP-seq; H3K4me3 ChIP-seq; GATA4 ChIP-seq; TBX5 ChIP-seq; gnomAD variant filtering; GTEx eQTL analysis; biobank genotype-phenotype analysis |
| Low Throughput Method: | Dual-luciferase reporter assay of MYH7-C6 in iPSC-CMs and HL-1 cells; allele-specific reporter assay for rs875908; CRISPR/Cas9 dual-guide C6 deletion; Sanger genotyping; RT-qPCR; SDS-PAGE myosin isoform analysis; longitudinal echocardiographic association; rs875908 disrupts a TBX5 motif |
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 (hg19)
3 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00028 | chr14:23906940-23908253 | heart left ventricle | cardiac muscle cell | dilated cardiomyopathy |
| E_00029 | chr14:23906940-23908253 | heart left ventricle | cardiac muscle cell | dilated cardiomyopathy |
| E_00031 | chr14:23906940-23908253 | heart left ventricle | cardiac muscle cell | dilated cardiomyopathy |
Expression of Target Genes for the Enhancer