About Enhancer
| Enhancer ID: | E_02619 |
| 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 of a triphalangeal thumb |
| PMID: | 38233525 |
| MONDO: | MONDO:0008270 |
| Tissue: | limb bud |
| Tissue Ontology ID: | UBERON:0004347 |
| Experiment Type: | TF binding assay; Disease-associated enhancer variant analysis; Disease-variant functional analysis |
| High Throughput Method: | PBM-based binding-affinity analysis |
| Low Throughput Method: | EMSA of WT and Dutch 2 ZRS sequences with human HOXD13 DNA-binding domain; Sanger sequence verification |
About Target Gene
| Target gene : | SHH |
About TF
| TF name : | HOXD13 |
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_02573 | chr7:156791087-156791875 | developing limb | limb bud cell | polydactyly |
| E_02618 | 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