About Enhancer
| Enhancer ID: | E_04451 |
| Species: | Homo sapiens |
| Position : | chr17:69541883-69542989   |
| Year: | 2017 |
| Title: | Altered SOX9 genital tubercle enhancer region in hypospadias. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | hypospadias |
| PMID: | 27989796 |
| MONDO: | MONDO:0005345 |
| Tissue: | mesonephric mesenchyme |
| Tissue Ontology ID: | UBERON:0005323 |
| Cell Source: | genital-tubercle/developmental enhancer reporter models |
| Cell Type: | genital-tubercle mesenchymal cell |
| Experiment Type: | Enhancer-variant functional assay |
| High Throughput Method: | None (candidate-locus study) |
| Low Throughput Method: | variant screening; enhancer reporter; developmental/in vivo reporter analysis |
About Target Gene
| Target gene : | SOX9 |
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