Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_00693
Species: Homo sapiens
Position : chr14:57419008-57421445
Year: 2020
Title: A distal enhancer that directs Otx2 expression in the retinal pigment epithelium and neuroretina
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: --
PMID:  31658410
MONDO:
Tissue: Retina
Tissue Ontology ID: UBERON:0000966
Cell Source:
CVCL ID:
Cell Type:
Cell Ontology ID:
Experiment Type: Enhancer activity assay, TF binding assay, Chromatin interaction assay
High Throughput Method: ChIP-seq, Hi-C, DNase-seq
Low Throughput Method: Transgenic Reporter Assay, qRT-PCR, Immunohistochemistry
About Target Gene
Target gene : OTX2
About TF
TF name : PAX6
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
PAX6 Activation of anterior HOX genes in hindbrain development during early embryogenesis reactome 120
PAX6 CDC42 signaling events pid 71
PAX6 Regulation of gene expression in beta cells reactome 17
PAX6 Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) reactome 20
PAX6 Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) reactome 13
PAX6 Maturity onset diabetes of the young kegg 25
PAX6 Hs_Ectoderm_Differentiation_WP2858_89329 wikipathways 56
Enhancer Associated Network
Overlapping Enhancers (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer