About Enhancer
| Enhancer ID: | E_03906 |
| 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: | Disease |
| Disease Name: | brachydactyly-elbow wrist dysplasia syndrome |
| PMID: | 30711920 |
| MONDO: | MONDO:0008520 |
| Tissue: | limb |
| Tissue Ontology ID: | UBERON:0002101 |
| Cell Source: | Liebenberg syndrome patient deletion / orthologous mouse model |
| Cell Type: | progenitor cell |
| Cell Ontology ID: | CL:0011026 |
| 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
Expression of Target Genes for the Enhancer