About Enhancer
| Enhancer ID: | E_03917 |
| Species: | Mus musculus |
| Position : | chr13:69400000-69410000   |
| Year: | 2019 |
| Title: | H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome. |
| Genome Build: | mm10 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | brachydactyly-elbow wrist dysplasia syndrome |
| PMID: | 30711920 |
| MONDO: | MONDO:0008520 |
| Tissue: | limb bud |
| Tissue Ontology ID: | UBERON:0004347 |
| Cell Source: | E11.5 mouse forelimb |
| Experiment Type: | Structural-variant/promoter-insulator perturbation revealing enhancer retargeting; Endogenous enhancer perturbation; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | whole-genome sequencing; RNA-seq |
| Low Throughput Method: | CRISPR-Cas9 recreation of deletion in mice; RT-qPCR; whole-mount in situ hybridization; CRISPR-Cas9 endogenous deletion/editing; Mouse genetic deletion/knock-in |
About Target Gene
| Target gene : | Pitx1 |
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
Overlapping Enhancers (mm10)
No overlapping enhancers found in mm10 at this locus.
Expression of Target Genes for the Enhancer