Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_03539
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: Normal
PMID:  25704602
Cell Source: GMSM-K (human embry-onic oral epithelial cells)
Experiment Type: Enhancer activity assay; Genetic-variant functional analysis; In vivo functional validation
Low Throughput Method: Luciferase reporter assay; Reporter assay
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
Overlapping Enhancers (hg19) 2 found
Enhancer ID Position Tissue Cell Disease
E_03558 chr17:54754755-54758235 optic fissure cranial neural crest/mesenchymal cell orofacial cleft
E_03562 chr17:54754755-54758235 optic fissure cranial neural crest/mesenchymal cell orofacial cleft
Expression of Target Genes for the Enhancer