About Enhancer
| Enhancer ID: | E_02629 |
| Species: | Mus musculus |
| Position : | chr11:57660605-57661348   |
| Year: | 2019 |
| Title: | Variation in a Left Ventricle-Specific Hand1 Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and Function. |
| Genome Build: | mm9 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | acute promyelocytic leukemia |
| PMID: | 31366290 |
| MONDO: | MONDO:0012883 |
| Tissue: | heart left ventricle |
| Tissue Ontology ID: | UBERON:0002084 |
| Cell Source: | mouse embryonic left ventricular myocardium and ventricular conduction system |
| Cell Type: | cardiac muscle cell |
| Cell Ontology ID: | CL:0000746 |
| Experiment Type: | In vivo enhancer activity assay; endogenous enhancer perturbation assay; regulatory variant functional assay; cardiac electrophysiology; Endogenous enhancer perturbation; TF binding assay; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | Public GATA4 ChIP-seq in cardiomyocyte progenitor cells; 1000 Genomes variant and linkage-disequilibrium analysis; GWAS QRS-duration association analysis; GWAS |
| Low Throughput Method: | hsp68-lacZ transgenic reporter assay; X-gal staining; 336-bp minimal enhancer mapping within the 744-bp assayed interval; GATA-site mutagenesis; GATA4 EMSA; CRISPR/Cas9 approximately 750-bp Hand1LV enhancer deletion; whole-mount in situ hybridization; RT-qPCR; immunohistochemistry; surface ECG; Langendorff epicardial optical voltage mapping; CRISPR/Cas9 modeling of rs10076436 and rs10054375; EMSA; Mouse genetic deletion/knock-in |
About Target Gene
| Target gene : | Hand1 |
About TF
| TF name : | Gata4 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| Gata4 | Factors involved in megakaryocyte development and platelet production | reactome | 111 |
| Gata4 | Notch-mediated HES/HEY network | pid | 48 |
| Gata4 | Physiological factors | reactome | 12 |
| Gata4 | Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) | reactome | 13 |
| Gata4 | YAP1- and WWTR1 (TAZ)-stimulated gene expression | reactome | 29 |
| Gata4 | Hs_Endoderm_Differentiation_WP2853_88152 | wikipathways | 62 |
| Gata4 | Hs_Heart_Development_WP1591_90186 | wikipathways | 28 |
| Gata4 | Hs_Serotonin_Receptor_2_and_ELK-SRF-GATA4_signaling_WP732_80010 | wikipathways | 13 |
Enhancer Associated Network
Overlapping Enhancers (mm9)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_02673 | chr11:57660605-57661348 | left cardiac ventricle | ventricular cardiomyocyte | NA |
Expression of Target Genes for the Enhancer