About Enhancer
| Enhancer ID: | E_04135 |
| Species: | Homo sapiens |
| Position : | chr7:156583796-156584568   |
| Year: | 2003 |
| Title: | A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | preaxial polydactyly |
| PMID: | 12837695 |
| MONDO: | MONDO:0021003 |
| Tissue: | limb |
| Tissue Ontology ID: | UBERON:0002101 |
| Cell Source: | affected families |
| Cell Type: | limb mesenchymal cell |
| Experiment Type: | Human pathogenic regulatory-variant mapping; long-range developmental enhancer validation |
| High Throughput Method: | Genetic linkage/mutation mapping; comparative genomics |
| Low Throughput Method: | Transgenic enhancer reporter; developmental expression analysis |
About Target Gene
| Target gene : | SHH |
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 (hg19)
5 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04133 | chr7:156583402-156585773 | limb bud | limb-bud mesenchymal cell | preaxial polydactyly II |
| E_04137 | chr7:156583402-156585773 | limb bud | limb bud mesenchymal cell | preaxial polydactyly |
| E_04063 | chr7:156583796-156584568 | limb bud | limb bud mesenchymal cell | preaxial polydactyly II |
| E_04134 | chr7:156583796-156584568 | limb | limb mesenchymal cell | preaxial polydactyly |
| E_04136 | chr7:156583796-156584568 | limb | limb mesenchymal cell | preaxial polydactyly |
Expression of Target Genes for the Enhancer