About Enhancer
| Enhancer ID: | E_01266 |
| Species: | Homo sapiens |
| Position : | chr5:134729406-134737909   |
| Year: | 2019 |
| Title: | H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 30711920 |
| MONDO: | |
| Tissue: | Limb Bud |
| Tissue Ontology ID: | UBERON:0005417 |
| Cell Source: | Human forelimb progenitor cells |
| CVCL ID: | |
| Cell Type: | progenitor cell |
| Cell Ontology ID: | CL:0000037 |
| Experiment Type: | Enhancer activity assay, Chromatin interaction assay, Functional perturbation assay |
| High Throughput Method: | RNA-seq |
| Low Throughput Method: | CRISPR Knockout, RT-RT-qPCR, Whole-mount in situ hybridisation |
About Target Gene
| Target gene : | PITX1 |
About TF
| TF name : |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg19)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01267 | chr5:134729406-134737909 | Embryo | mouse embryo | -- |
Expression of Target Genes for the Enhancer