About Enhancer
| Enhancer ID: | E_02573 |
| Species: | Homo sapiens |
| Position : | chr7:156791087-156791875   |
| Year: | 2024 |
| Title: | Affinity-optimizing enhancer variants disrupt development. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | polydactyly |
| PMID: | 38233525 |
| MONDO: | MONDO:0021003 |
| Tissue: | developing limb |
| Cell Source: | ZRS transgenic developmental model |
| Cell Type: | limb bud cell |
| Experiment Type: | Enhancer activity assay; TF-binding-affinity assay; enhancer variant functional assay; developmental phenotype assay |
| High Throughput Method: | MPRA/high-throughput enhancer mutagenesis |
| Low Throughput Method: | Transgenic mouse enhancer assay; site-directed mutagenesis; TF-binding-affinity assay; embryonic limb reporter analysis; digit phenotype 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 (hg38)
11 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_02505 | chr7:156791087-156791875 | embryonic limb bud | Limb bud mesenchymal cell (ZPA mesenchyme) | Preaxial polydactyly / triphalangeal thumb-polydactyly spectrum |
| E_02506 | chr7:156791087-156791875 | embryonic limb bud | Limb bud mesenchymal cell (ZPA mesenchyme) | Preaxial polydactyly / triphalangeal thumb-polydactyly spectrum |
| E_02507 | chr7:156791087-156791875 | embryonic limb bud | limb-bud mesenchymal cell (ZPA domain) | Preaxial polydactyly / triphalangeal thumb-polydactyly spectrum |
| E_02508 | chr7:156791087-156791875 | embryonic limb bud | limb-bud mesenchymal cell (ZPA domain) | Preaxial polydactyly / triphalangeal thumb-polydactyly spectrum |
| E_02509 | chr7:156791087-156791875 | embryonic limb bud | limb-bud mesenchymal cell (ZPA domain) | Preaxial polydactyly / triphalangeal thumb-polydactyly spectrum |
| E_02510 | chr7:156791087-156791875 | embryonic limb bud | limb-bud mesenchymal cell (ZPA domain) | Preaxial polydactyly / triphalangeal thumb-polydactyly spectrum |
| E_02511 | chr7:156791087-156791875 | embryonic limb bud | limb-bud mesenchymal cell (ZPA domain) | Preaxial polydactyly / triphalangeal thumb-polydactyly spectrum |
| E_02512 | chr7:156791087-156791875 | embryonic limb bud | limb-bud mesenchymal cell (ZPA domain) | Preaxial polydactyly / triphalangeal thumb-polydactyly spectrum |
| E_02618 | chr7:156791087-156791875 | limb bud | NA | polydactyly of a triphalangeal thumb |
| E_02619 | chr7:156791087-156791875 | limb bud | NA | polydactyly of a triphalangeal thumb |
| E_04534 | chr7:156791087-156791875 | limb bud | posterior limb-bud mesenchyme (zone of polarizing activity) | NA |
Expression of Target Genes for the Enhancer