Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
Enhancer ID: E_04736
Species: Homo sapiens
Position : chr10:23502416-23510031
Year: 2014
Title: Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Genome Build: hg19
Enhancer Type: Enhancer
Condition: Disease
Disease Name: Pancreatic Agenesis
PMID:  24212882
Tissue: pancreas
Tissue Ontology ID: UBERON:0001264
Cell Source: Embryonic Stem Cell
Experiment Type: TF-binding/chromatin assay; Chromatin interaction assay; Disease-associated enhancer analysis
High Throughput Method: ChIP-seq
Low Throughput Method: ChIP-qPCR/ChIP; EMSA/gel-shift assay; 3C
About Target Gene
Target gene : PTF1A
About TF
TF name : FOXA2
About Regulatory State
Regulatory State : Active
Upstream Pathway Annotation of TF
GeneName Pathway Name Source Gene Number
FOXA2 FOXA1 transcription factor network pid 45
FOXA2 FOXA2 and FOXA3 transcription factor networks pid 45
FOXA2 Hedgehog signaling events mediated by Gli proteins pid 49
FOXA2 Regulation of gene expression in beta cells reactome 17
FOXA2 Maturity onset diabetes of the young kegg 25
FOXA2 Hs_Endoderm_Differentiation_WP2853_88152 wikipathways 62
FOXA2 Hs_Dopaminergic_Neurogenesis_WP2855_87239 wikipathways 19
FOXA2 Hs_Heart_Development_WP1591_90186 wikipathways 28
FOXA2 Hs_Ectoderm_Differentiation_WP2858_89329 wikipathways 56
Enhancer Associated Network
Overlapping Enhancers (hg19) 3 found
Enhancer ID Position Tissue Cell Disease
E_04737 chr10:23502416-23510031 pancreas NA Pancreatic Agenesis
E_04750 chr10:23508149-23508510 pancreas progenitor cell NA
E_03619 chr10:23508400-23508721 pancreas pancreatic multipotent progenitor cell NA
Expression of Target Genes for the Enhancer