About Enhancer
| Enhancer ID: | E_00164 |
| Species: | Homo sapiens |
| Position : | chr17:68663972-68675613   |
| Year: | 2020 |
| Title: | Loss of Extreme Long-Range Enhancers in Human Neural Crest Drives a Craniofacial Disorder |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| Disease Name: | -- |
| PMID: | 32991838 |
| MONDO: | |
| Tissue: | Cranial neural crest |
| Tissue Ontology ID: | UBERON:0003099 |
| Cell Source: | hCNCC |
| CVCL ID: | |
| Cell Type: | cranial neural crest cell |
| Cell Ontology ID: | CL:0000333 |
| Experiment Type: | Enhancer activity assay, Functional perturbation assay |
| High Throughput Method: | ChIP-seq, ATAC-seq, RNA-seq, 3C-seq |
| Low Throughput Method: | Luciferase Reporter Assay, CRISPR Knockout, RT-RT-qPCR |
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 (hg19)
No overlapping enhancers found in hg19 at this locus.
Expression of Target Genes for the Enhancer