Enhancer ID: | E_01_210 | |
Enhancer symbol: | ||
Species: | Human | |
Position : | chr17:54775600-54778000 |
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Biosample name: | GMSM-K (human embry-onic oral epithelial cells) | |
Experiment class : | Low throughput |
Enhancer type: | Enhancer | |
Disease: | Cleft Palate | |
DO: | -- | |
Mesh: | -- | |
Distance from TSS: | >2KB | |
Pubmed ID: | 25704602 |
Enhancer experiment: | Luciferase Reporter Assay,PCR | |
Enhancer experiment description: | One element, located +87 kb from the NOG translation start site, is an epithelial enhancer in zebrafish (Figures 5E and 5F). The second element, at +105 kb, lacked consistent enhancer activity in transient transgenic zebrafish assays. However, this element had low-level enhancer activity in vitro in human fetal oral epithelial cells (GMSM-K) (Figure 5G) and murine osteoblastic cells (MC3T3) (Figure S19). Interestingly, the enhancer activity of the +105 kb element in both cell types was significantly lower with theNSCL/P-associated allele of rs227727 (i.e., T) than with the unassociated allele (i.e., A) (Figures 5G and S18). |
Target gene : | NOG(SYM1,SYNS1,SYNS1A) | |
Strong evidence: | -- | |
Less strong evidence: | Luciferase Reporter Assay,PCR | |
Target gene experiment description: | One element, located +87 kb from the NOG translation start site, is an epithelial enhancer in zebrafish (Figures 5E and 5F). The second element, at +105 kb, lacked consistent enhancer activity in transient transgenic zebrafish assays. However, this element had low-level enhancer activity in vitro in human fetal oral epithelial cells (GMSM-K) (Figure 5G) and murine osteoblastic cells (MC3T3) (Figure S19). Interestingly, the enhancer activity of the +105 kb element in both cell types was significantly lower with theNSCL/P-associated allele of rs227727 (i.e., T) than with the unassociated allele (i.e., A) (Figures 5G and S18). |
TF name : | -- | |
TF experiment: | -- | |
TF experiment description: | -- |
Enhancer function : | -- |
Enhancer function experiment: | -- |
Enhancer function experiment description: |
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SNP ID: | -- | |
SNP position: | -- |
SNP experiment: | -- |
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