Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_04756 |
| Species: | Homo sapiens |
| Position : | chr17:38082607-38083007 |
| Year: | 2022 |
| Title: | Single-base editing of rs12603332 on chromosome 17q21 with a cytosine base editor regulates ORMDL3 and ATF6ζ± expression |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | asthma |
| PMID: | 34525218 |
| MONDO: | MONDO:0004979 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | Primary human CD4+ T cells |
| Cell Type: | CD4-positive alpha-beta T cell |
| Cell Ontology ID: | CL:0000624 |
| Experiment Type: | Endogenous disease-variant base editing; enhancer-context functional validation; TF binding assay; target-gene expression assay |
| Low Throughput Method: | Cytosine base editing; Sanger/ICE editing analysis; RT-qPCR; EMSA; flow cytometry |
| Target gene : | ORMDL3 |
| TF name : | TCF3 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| TCF3 | CDO in myogenesis | reactome | 29 |
| TCF3 | ID | netpath | 38 |
| TCF3 | Notch-mediated HES/HEY network | pid | 48 |
| TCF3 | Notch | netpath | 76 |
| TCF3 | p38 signaling mediated by MAPKAP kinases | pid | 21 |
| TCF3 | Regulation of nuclear SMAD2/3 signaling | pid | 82 |
| TCF3 | Wnt | netpath | 118 |
| TCF3 | Hs_Ectoderm_Differentiation_WP2858_89329 | wikipathways | 56 |