About Enhancer
| Enhancer ID: | E_04737 |
| 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 : | PDX1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| PDX1 | FOXA2 and FOXA3 transcription factor networks | pid | 45 |
| PDX1 | Regulation of gene expression in beta cells | reactome | 17 |
| PDX1 | Regulation of gene expression in early pancreatic precursor cells | reactome | 8 |
| PDX1 | Type II diabetes mellitus | kegg | 44 |
| PDX1 | Maturity onset diabetes of the young | kegg | 25 |
Enhancer Associated Network
Expression of Target Genes for the Enhancer