About Enhancer
| Enhancer ID: | E_04251 |
| Species: | Homo sapiens |
| Position : | chr7:117504671-117505671   |
| Year: | 2022 |
| Title: | Epigenome editing of the CFTR-locus for treatment of cystic fibrosis. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | cystic fibrosis |
| PMID: | 34049825 |
| MONDO: | MONDO:0009061 |
| Tissue: | lung |
| Tissue Ontology ID: | UBERON:0002048 |
| Cell Source: | UNCCF3T (F508del/F508del human bronchial epithelial cells) |
| Cell Type: | bronchial epithelial cell |
| Cell Ontology ID: | CL:0002328 |
| Experiment Type: | Epigenome editing assay; Functional enhancer perturbation assay |
| High Throughput Method: | Published epigenomic prioritization of CFTR regulatory regions |
| Low Throughput Method: | dCas9-p300 enhancer activation; dCas9-KRAB enhancer repression; RT-qPCR; CFTR protein assay; Ussing chamber assay |
About Target Gene
| Target gene : | CFTR |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg38)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04243 | chr7:117504671-117505671 | kidney | embryonic kidney cell | NA |
Expression of Target Genes for the Enhancer