About Enhancer
| Enhancer ID: | E_03926 |
| 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: | affected family |
| Cell Type: | limb mesenchymal cell |
| Experiment Type: | 8.5-kb pathogenic deletion contains H2AFY promoter/first noncoding exon; not an enhancer interval |
| High Throughput Method: | Whole-genome sequencing |
| Low Throughput Method: | Mouse CRISPR recreation; expression analysis; limb phenotyping; CRISPR-Cas9 |
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