About Enhancer
| Enhancer ID: | E_03558 |
| Species: | Homo sapiens |
| Position : | chr17:54754755-54758235   |
| Year: | 2015 |
| Title: | Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | orofacial cleft |
| PMID: | 25704602 |
| MONDO: | MONDO:0000358 |
| Tissue: | optic fissure |
| Tissue Ontology ID: | UBERON:0005412 |
| Cell Source: | patient DNA |
| Cell Type: | cranial neural crest/mesenchymal cell |
| Experiment Type: | Targeted risk-locus sequencing; functional enhancer-variant validation |
| High Throughput Method: | targeted high-depth sequencing of GWAS loci |
| Low Throughput Method: | allele-specific reporter; developmental/in vivo enhancer assays; variant functional testing |
About Target Gene
| Target gene : | NOG |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Expression of Target Genes for the Enhancer