About Enhancer
| Enhancer ID: | E_01920 |
| Species: | Homo sapiens |
| Position : | chr17:72118256-72120256   |
| Year: | 2018 |
| Title: | Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | osteosarcoma |
| PMID: | 30552336 |
| MONDO: | MONDO:0005087 |
| Tissue: | Bone |
| Tissue Ontology ID: | UBERON:0001474 |
| Cell Source: | LM8-C3H cell line |
| CVCL ID: | CVCL_UP52 |
| Cell Type: | osteosarcoma cell |
| Cell Ontology ID: | CL:0000062 |
| Experiment Type: | Enhancer activity assay, TF binding assay |
| High Throughput Method: | ChIP-seq |
| Low Throughput Method: | 3C, RT-PCR, RT-RT-qPCR |
About Target Gene
| Target gene : | SOX9 |
About TF
| TF name : | SOX9 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| SOX9 | Deactivation of the beta-catenin transactivating complex | reactome | 42 |
| SOX9 | TGF_beta_Receptor | netpath | 220 |
| SOX9 | Hs_Neural_Crest_Differentiation_WP2064_79263 | wikipathways | 40 |
| SOX9 | Hs_Spinal_Cord_Injury_WP2431_87678 | wikipathways | 21 |
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer