About Enhancer
| Enhancer ID: | E_00918 |
| Species: | Homo sapiens |
| Position : | chr8:55251754-55251853   |
| Year: | 2023 |
| Title: | SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | pulmonary arterial hypertension |
| PMID: | 37066790 |
| MONDO: | MONDO:0015924 |
| Tissue: | pulmonary artery endothelium |
| Tissue Ontology ID: | UBERON:0005317 |
| Cell Source: | primary human pulmonary artery endothelial cells (hPAECs) |
| Cell Type: | pulmonary artery endothelial cell |
| Cell Ontology ID: | CL:1001568 |
| Experiment Type: | Regulatory variant enhancer assay; CRISPR interference assay; TF binding assay; endothelial functional assay; Endogenous enhancer perturbation; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | GWAS fine-mapping; RNA-seq; transcriptomic analysis; epigenomic integration; GWAS |
| Low Throughput Method: | CRISPRi targeting the rs765727 signal-2 enhancer; 100-bp allele-specific dual-luciferase reporter assay; EMSA; antibody supershift EMSA; RT-qPCR; endothelial apoptosis assay; proliferation assay; barrier-function assay; Start/End are a standardized 100-bp interval centered on rs765727 at hg19 chr8:55251803 because exact cloning endpoints were not explicitly stated; siRNA knockdown; Mouse genetic deletion/knock-in; In vivo phenotyping |
About Target Gene
| Target gene : | SOX17 |
About TF
| TF name : | RORA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| RORA | BMAL1:CLOCK,NPAS2 activates circadian gene expression | reactome | 42 |
| RORA | Circadian Clock | reactome | 49 |
| RORA | HIF-1-alpha transcription factor network | pid | 67 |
| RORA | Nuclear Receptor transcription pathway | reactome | 51 |
| RORA | PPARA activates gene expression | reactome | 113 |
| RORA | RORA activates gene expression | reactome | 27 |
| RORA | Hs_Signaling_of_Hepatocyte_Growth_Factor_Receptor_WP313_79946 | wikipathways | 15 |
| RORA | Hs_Complement_and_Coagulation_Cascades_WP558_90196 | wikipathways | 21 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
3 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_00914 | chr8:55251754-55251853 | pulmonary artery endothelium | pulmonary artery endothelial cell | pulmonary arterial hypertension |
| E_00916 | chr8:55251754-55251853 | pulmonary artery endothelium | pulmonary artery endothelial cell | pulmonary arterial hypertension |
| E_00917 | chr8:55251754-55251853 | pulmonary artery endothelium | pulmonary artery endothelial cell | pulmonary arterial hypertension |
Expression of Target Genes for the Enhancer