Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01308 |
| Species: | Homo sapiens |
| Position : | chr4:174249537-174250490 |
| Year: | 2023 |
| Title: | Genome-wide CRISPR activation screening in senescent cells reveals SOX5 as a driver and therapeutic target of rejuvenation. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | Werner syndrome |
| PMID: | 37832549 |
| MONDO: | MONDO:0010196 |
| Tissue: | connective tissue / articular cartilage |
| Cell Source: | Human mesenchymal precursor cells (WT and progeroid-syndrome model) |
| Cell Type: | mesenchymal stem/progenitor cell |
| Cell Ontology ID: | CL:0000134 |
| Experiment Type: | Genome-wide CRISPRa rejuvenation screen; SOX5-dependent HMGB2 enhancer activation; epigenomic remodeling; in vivo osteoarthritis validation |
| High Throughput Method: | Genome-wide pooled CRISPRa screen; RNA-seq; ATAC-seq; SOX5 ChIP-seq; H3K27ac/H3K4me1 ChIP-seq |
| Low Throughput Method: | SOX5/HMGB2 overexpression; ChIP-qPCR; RT-qPCR; Western blot; senescence assays; lentiviral in vivo cartilage gene therapy; osteoarthritis phenotyping |
| Target gene : | HMGB2 |
| TF name : | SOX5 |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| SOX5 | Hs_Endochondral_Ossification_WP474_87977 | wikipathways | 43 |
| SOX5 | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 |
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01237 | chr4:174249537-174250490 | connective tissue | mesenchymal stem cell | NA |
| E_01288 | chr4:174249537-174250490 | connective tissue | mesenchymal stem cell | Werner syndrome |
| E_01291 | chr4:174249537-174250490 | connective tissue | mesenchymal stem cell | NA |
| E_01292 | chr4:174249537-174250490 | connective tissue | mesenchymal stem cell | osteoarthritis |
| E_01293 | chr4:174249537-174250490 | connective tissue | mesenchymal stem cell | Werner syndrome |
| E_01297 | chr4:174249537-174250490 | connective tissue | mesenchymal stem cell | NA |
| E_01298 | chr4:174249537-174250490 | connective tissue | mesenchymal stem cell | NA |
| E_01300 | chr4:174249537-174250490 | connective tissue | mesenchymal stem cell | osteoarthritis |
| E_01309 | chr4:174249537-174250490 | connective tissue / articular cartilage | mesenchymal stem/progenitor cell | Werner syndrome |
| E_01310 | chr4:174249537-174250490 | connective tissue / articular cartilage | mesenchymal stem/progenitor cell | osteoarthritis |
| E_01311 | chr4:174249537-174250490 | connective tissue / articular cartilage | mesenchymal stem/progenitor cell | osteoarthritis |