About Enhancer
| Enhancer ID: | E_02_0793 |
| Species: | human |
| Position : | chr14:60973427-60975430   |
| Biosample name: | |
| Experiment class : | low throughput |
| Enhancer type: | Enhancer |
| Disease: | Primary open-angle glaucoma |
| Pubmed ID: | 28717659 |
| Enhancer experiment: | Transgenic zebrafish,Luciferase Reporter Assay |
| Enhancer experiment description: | A evolutionarily conserved enhancer has been shown to control Six6 expression in the vertebrate retina (Conte et al. 2010).We ?rst inserted the entire control human enhancer sequence in the ZED transgenic vector (Bessa et al. 2009) and investigated if the plasmid could drive GFP reporter expression in the retina of zebra?sh embryos, similarly to what has been previously observed for the medaka orthologous region (Conte et al. 2010). We generated 38 F0 transgenic embryos, as determined by RFP expression in the somites (Fig. 4C) that acts as a positive control (Bessa et al.2009). About half of them (18) showed a clear GFP expression driven by the human enhancer element in the eye and occasionally in other CNS regions. |
About Target gene
| Target gene : | SIX6 (MCOPCT2,ODRMD,OPTX2,Six9) |
| Strong evidence: | -- |
| Less strong evidence: | Transgenic zebrafish |
| Target gene experiment description: | A evolutionarily conserved enhancer has been shown to control Six6 expression in the vertebrate retina (Conte et al. 2010).We ?rst inserted the entire control human enhancer sequence in the ZED transgenic vector (Bessa et al. 2009) and investigated if the plasmid could drive GFP reporter expression in the retina of zebra?sh embryos, similarly to what has been previously observed for the medaka orthologous region (Conte et al. 2010). We generated 38 F0 transgenic embryos, as determined by RFP expression in the somites (Fig. 4C) that acts as a positive control (Bessa et al.2009). About half of them (18) showed a clear GFP expression driven by the human enhancer element in the eye and occasionally in other CNS regions. |
About TF
| TF name : | -- |
| TF experiment: | -- |
| TF experiment description: | -- |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
About SNP
| SNP ID: | rs33912345 |
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