About Enhancer
| Enhancer ID: | E_00908 |
| Species: | Mus musculus |
| Position : | chr1:75694480-75848058   |
| Year: | 2015 |
| Title: | Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. |
| Genome Build: | mm9 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | congenital limb malformation |
| PMID: | 25959774 |
| MONDO: | MONDO:0019054 |
| Tissue: | limb bud |
| Tissue Ontology ID: | UBERON:0004347 |
| Cell Source: | E11.5 mouse distal limb tissue |
| Cell Type: | mesenchymal cell |
| Cell Ontology ID: | CL:0008019 |
| Experiment Type: | Enhancer activity assay; chromatin interaction assay; engineered structural-variant assay; Endogenous enhancer perturbation; Disease-variant functional analysis |
| High Throughput Method: | 4C-seq; H3K27ac ChIP-seq; p300 ChIP-seq; DNase-seq |
| Low Throughput Method: | CRISPR-Cas9 engineered structural rearrangement; transgenic LacZ enhancer reporter assay; RNA in situ hybridization; skeletal phenotyping; CRISPR-Cas9 endogenous deletion/editing |
About Target Gene
| Target gene : | Pax3 |
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
Expression of Target Genes for the Enhancer