About Enhancer

Enhancer ID: E_01_210
Enhancer symbol:
Species: Human
Position : chr17:54775600-54778000
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).

About Target gene

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).

About TF

TF name : --
TF experiment: --
TF experiment description: --

About Function

Enhancer function : --
Enhancer function experiment: --
Enhancer function
experiment description:
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About SNP

SNP ID: --
SNP position: --
SNP experiment: --

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs