About Enhancer
| Enhancer ID: | E_02_0871 |
| Species: | human |
| Position : | chr10:123099588-123100426   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | Cleft palate |
| Pubmed ID: | 25704602 |
| Enhancer experiment: | Luciferase Reporter Assay,PCR |
| Enhancer experiment description: | The same FGFR2 +254 construct used in the zebra?sh studies (GRCh37, chr10: 123,099,588123,100,426) was modi?ed by PCR-mediated mutagenesis to test the de novo mutation at GRCh37, chr10: 123,099,960. In transient transgenic reporter studies in zebra?sh embryos, we demonstrated that the reference allele of the human +254 kb element has enhancer activity in the neural keel (Figure 3C), brain (Figure 3D), and delaminating neural crest (Figure S18), consistent with expression of Fgfr2 in brain and cranial neural folds in mice and zebra?sh.In parallel experiments, the de novo mutation revealed enhancer activity in fewer embryos (3/83) than the reference allele (41/82; p ? 1.70 3 10 12 )(Figures 3E and S18). |
About Target gene
| Target gene : | FGFR2(BBDS,BEK,BFR-1,CD332,CEK3,CFD1,ECT1,JWS,K-SAM,KGFR,TK14,TK25) |
| Strong evidence: | -- |
| Less strong evidence: | Luciferase Reporter Assay,PCR |
| Target gene experiment description: | The same FGFR2 +254 construct used in the zebra?sh studies (GRCh37, chr10: 123,099,588123,100,426) was modi?ed by PCR-mediated mutagenesis to test the de novo mutation at GRCh37, chr10: 123,099,960. In transient transgenic reporter studies in zebra?sh embryos, we demonstrated that the reference allele of the human +254 kb element has enhancer activity in the neural keel (Figure 3C), brain (Figure 3D), and delaminating neural crest (Figure S18), consistent with expression of Fgfr2 in brain and cranial neural folds in mice and zebra?sh.In parallel experiments, the de novo mutation revealed enhancer activity in fewer embryos (3/83) than the reference allele (41/82; p ? 1.70 3 10 12 )(Figures 3E and S18). |
About TF
| TF name : | -- |
| TF experiment: | -- |
| TF experiment description: | -- |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene