About Enhancer
| Enhancer ID: | E_02507 |
| 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: | Embryonic limb-bud/ZPA mesenchyme |
| 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 : | ETS1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| ETS1 | Angiogenesis | panther | 141 |
| ETS1 | Angiopoietin receptor Tie2-mediated signaling | pid | 50 |
| ETS1 | AP-1 transcription factor network | pid | 71 |
| ETS1 | BCR signaling pathway | pid | 70 |
| ETS1 | C-MYB transcription factor network | pid | 87 |
| ETS1 | ERK cascade ( FGF8 signaling (Mouse) ) | inoh | 17 |
| ETS1 | ERK cascade ( FGF8 signaling (Xenopus) ) | inoh | 17 |
| ETS1 | FGF8 signaling pathway(Mouse) ( FGF8 signaling (Mouse) ) | inoh | 20 |
| ETS1 | FGF8 signaling pathway(Xenopus) ( FGF8 signaling (Xenopus) ) | inoh | 18 |
| ETS1 | HIF-1-alpha transcription factor network | pid | 67 |
| ETS1 | HIF-2-alpha transcription factor network | pid | 34 |
| ETS1 | IL2 | netpath | 81 |
| ETS1 | IL4-mediated signaling events | pid | 66 |
| ETS1 | IL4 | netpath | 75 |
| ETS1 | Oncogene Induced Senescence | reactome | 30 |
| ETS1 | PDGF signaling pathway | panther | 113 |
| ETS1 | Ras Pathway | panther | 69 |
| ETS1 | Signaling events mediated by focal adhesion kinase | pid | 63 |
| ETS1 | Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) | pid | 80 |
| ETS1 | TGF_beta_Receptor | netpath | 220 |
| ETS1 | VEGF signaling pathway | panther | 54 |
| ETS1 | MAPK signaling pathway - fly | kegg | 16 |
| ETS1 | Dorso-ventral axis formation | kegg | 25 |
| ETS1 | Hs_Apoptosis-related_network_due_to_altered_Notch3_in_ovarian_cancer_WP2864_79278 | wikipathways | 51 |
| ETS1 | Hs_VEGFA-VEGFR2_Signaling_Pathway_WP3888_90000 | wikipathways | 153 |
| ETS1 | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 |
| ETS1 | Hs_TGF-beta_Signaling_Pathway_WP366_90028 | wikipathways | 67 |
| ETS1 | Hs_B_Cell_Receptor_Signaling_Pathway_WP23_89900 | wikipathways | 71 |
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_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_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