About Enhancer
| Enhancer ID: | E_01_0683 |
| Species: | human |
| Position : | chr7:117284315-117286315   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Cystic fibrosis |
| Pubmed ID: | 30296588 |
| Enhancer experiment: | Transient Luciferase Assays? transient assays?Dual-Luciferase Reporter Assay?Bioinformatic Variant Analysis |
| Enhancer experiment description: | These data suggest that CFTR regulatory elements may harbor novel CF disease causing variants that warrant further investigation, both for genetic screening protocols and functional assays. |
About Target gene
| Target gene : | -- |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | These data suggest that CFTR regulatory elements may harbor novel CF disease causing variants that warrant further investigation, both for genetic screening protocols and functional assays. |
About TF
| TF name : | CFTR |
| TF experiment: | Transient Luciferase Assays? transient assays?Dual-Luciferase Reporter Assay?Bioinformatic Variant Analysis |
| TF experiment description: | These data suggest that CFTR regulatory elements may harbor novel CF disease causing variants that warrant further investigation, both for genetic screening protocols and functional assays. |
About Function
| Enhancer function : | These data suggest that CFTR regulatory elements may harbor novel CF disease causing variants that warrant further investigation, both for genetic screening protocols and functional assays. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
These data suggest that CFTR regulatory elements may harbor novel CF disease causing variants that warrant further investigation, both for genetic screening protocols and functional assays. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| CFTR | ABC-family proteins mediated transport | reactome | 24 |
| CFTR | Gastric acid secretion | kegg | 68 |
| CFTR | Pancreatic secretion | kegg | 97 |
| CFTR | Vibrio cholerae infection | kegg | 51 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene