About Enhancer
| Enhancer ID: | E_01624 |
| Species: | Homo sapiens |
| Position : | chr6:1335829-1335870   |
| Year: | 2022 |
| Title: | Stroke-associated intergenic variants modulate a human FOXF2 transcriptional enhancer. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | stroke susceptibility |
| PMID: | 35994645 |
| MONDO: | MONDO:0005098 |
| Tissue: | cerebral microvasculature / vascular wall |
| Cell Source: | zebrafish vascular mural-cell models |
| Cell Type: | pericyte / vascular mural cell |
| Cell Ontology ID: | CL:0000669 |
| Experiment Type: | Functional core within the 750-bp construct-E enhancer; RBPJ occupancy/site mutagenesis; endogenous enhancer perturbation and FOXF2 target validation |
| High Throughput Method: | GWAS; ENCODE chromatin/TF integration; human-brain single-cell RNA-seq integration |
| Low Throughput Method: | Luciferase reporter; iCRISPRi; CRISPR enhancer excision; ChIP-qPCR; RBPJ motif mutagenesis; qPCR; zebrafish enhancer reporter |
About Target Gene
| Target gene : | FOXF2 |
About TF
| TF name : | RBPJ |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| RBPJ | Alzheimer disease-presenilin pathway | panther | 98 |
| RBPJ | Angiogenesis | panther | 141 |
| RBPJ | Canonical Notch signaling pathway ( Notch signaling pathway Diagram ) | inoh | 19 |
| RBPJ | Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants | reactome | 57 |
| RBPJ | Constitutive Signaling by NOTCH1 PEST Domain Mutants | reactome | 57 |
| RBPJ | Mammalian Notch signaling pathway ( Notch signaling pathway Diagram ) | inoh | 15 |
| RBPJ | NICD traffics to nucleus | reactome | 13 |
| RBPJ | Notch-HLH transcription pathway | reactome | 13 |
| RBPJ | Notch-mediated HES/HEY network | pid | 48 |
| RBPJ | Notch | netpath | 76 |
| RBPJ | Notch signaling pathway | panther | 27 |
| RBPJ | Notch signaling pathway | pid | 58 |
| RBPJ | NOTCH1 Intracellular Domain Regulates Transcription | reactome | 47 |
| RBPJ | NOTCH2 intracellular domain regulates transcription | reactome | 12 |
| RBPJ | Pre-NOTCH Transcription and Translation | reactome | 29 |
| RBPJ | Presenilin action in Notch and Wnt signaling | pid | 46 |
| RBPJ | Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells | reactome | 7 |
| RBPJ | Notch signaling pathway | kegg | 44 |
| RBPJ | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 |
Enhancer Associated Network
Overlapping Enhancers (hg19)
8 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01620 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01621 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01622 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01623 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01625 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01651 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01652 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
| E_01653 | chr6:1335829-1335870 | cerebral microvasculature / vascular wall | pericyte / vascular mural cell | stroke susceptibility |
Expression of Target Genes for the Enhancer