Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_03273
Species: Homo sapiens
Position : chr9:137494462-137494862
Year: 2024
Title: Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease.
Genome Build: hg38
Enhancer Type: Enhancer
Condition: Normal
PMID:  38378865
Tissue: endometrium
Tissue Ontology ID: UBERON:0001295
Cell Source: 1390C1
CVCL ID: CVCL_UP48
Cell Type: endometrial stromal cell
Experiment Type: CRISPR interference (CRISPRi)
High Throughput Method: lentiSTARR-seq, lentiMPRA, scATAC-seq; MPRA; whole-genome sequencing
Low Throughput Method: RT-RT-qPCR; FACS; EMSA; Reporter assay
About Target Gene
Target gene : COL5A1
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 (hg38) 4 found
Enhancer ID Position Tissue Cell Disease
E_03274 chr9:137494462-137494862 endometrium endometrial stromal cell NA
E_03275 chr9:137494462-137494862 endometrium endometrial stromal cell NA
E_03276 chr9:137494462-137494862 endometrium endometrial stromal cell NA
E_03277 chr9:137494462-137494862 endometrium endometrial stromal cell NA
Expression of Target Genes for the Enhancer