About Enhancer
| Enhancer ID: | E_01179 |
| Species: | Mus musculus |
| Position : | chr11:111456657-111460228   |
| Year: | 2020 |
| Title: | Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder. |
| Genome Build: | mm39 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | isolated Pierre Robin sequence |
| PMID: | 32991838 |
| MONDO: | MONDO:0009869 |
| Tissue: | developing mandible / craniofacial mesenchyme |
| Tissue Ontology ID: | UBERON:0001684 |
| Cell Source: | Human cranial neural crest cells plus endogenous orthologous mouse EC1.45 deletion models |
| Cell Type: | cranial neural crest cell |
| Cell Ontology ID: | CL:0000333 |
| Experiment Type: | EC1.45/Rr80 extreme long-range enhancer cluster; TWIST1 occupancy; Capture-C target assignment; endogenous orthologous enhancer deletion; craniofacial phenotyping |
| High Throughput Method: | p300/H3K27ac ChIP-seq; ATAC-seq; Capture-C |
| Low Throughput Method: | Luciferase reporter; CRISPR-Cas9 EC1.45 deletion; allele-specific RT-ddPCR; mouse lacZ reporter; in situ hybridization; Coordinator-motif deletion |
About Target Gene
| Target gene : | Sox9 |
About TF
| TF name : | Twist1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| Twist1 | HIF-2-alpha transcription factor network | pid | 34 |
| Twist1 | Notch-mediated HES/HEY network | pid | 48 |
| Twist1 | Hs_Endochondral_Ossification_WP474_87977 | wikipathways | 43 |
| Twist1 | Hs_miR-509-3p_alteration_of_YAP1-ECM_axis_WP3967_91491 | wikipathways | 14 |
| Twist1 | Hs_G13_Signaling_Pathway_WP524_72112 | wikipathways | 18 |
| Twist1 | Hs_Transcription_factor_regulation_in_adipogenesis_WP3599_88581 | wikipathways | 9 |
Enhancer Associated Network
Overlapping Enhancers (mm39)
2 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_05375 | chr11:111456657-111460228 | developing craniofacial mesenchyme / jaw | cranial neural crest-derived mesenchymal progenitor | NA |
| E_05376 | chr11:111456657-111460228 | developing craniofacial mesenchyme / jaw | cranial neural crest-derived mesenchymal progenitor | NA |
Expression of Target Genes for the Enhancer