About Enhancer
| Enhancer ID: | E_02510 |
| 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: | Preaxial polydactyly / triphalangeal thumb-polydactyly spectrum |
| PMID: | 38233525 |
| MONDO: | MONDO:0008270 |
| Tissue: | embryonic limb bud |
| Tissue Ontology ID: | UBERON:0004347 |
| Cell Source: | human ZRS sequence with endogenous mouse developmental validation |
| Cell Type: | limb-bud mesenchymal cell (ZPA domain) |
| Experiment Type: | Disease-variant enhancer activity; TF-binding affinity; endogenous developmental perturbation; in vivo phenotyping |
| High Throughput Method: | Protein-binding microarray integration; saturation-mutagenesis MPRA reanalysis |
| Low Throughput Method: | EMSA; enhancer reporter; CRISPR-Cas9 endogenous knock-in/editing; RNA in situ hybridization for Shh/Ptch1; skeletal staining; developmental phenotyping |
About Target Gene
| Target gene : | SHH |
About TF
| TF name : | HOXA13 |
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_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_02573 | chr7:156791087-156791875 | developing limb | limb bud cell | polydactyly |
| 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