Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01519 |
| Species: | Mus musculus |
| Position : | chr11:10999900-11000869 |
| Year: | 2018 |
| Title: | Sex reversal following deletion of a single distal enhancer of Sox9. |
| Genome Build: | mm10 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | sex reversal |
| PMID: | 29903884 |
| MONDO: | MONDO:0008637 |
| Tissue: | testis |
| Tissue Ontology ID: | UBERON:0000473 |
| Cell Source: | Sertoli cells |
| Cell Type: | Sertoli cell |
| Cell Ontology ID: | CL:0000216 |
| Experiment Type: | Developmental biology assay, Functional genomics assay, Epigenomic profiling assay, Transcriptional regulation assay, In vivo transgenic reporter assay |
| High Throughput Method: | ATAC-seq; ChIP-seq; DNase-seq |
| Low Throughput Method: | RT-RT-qPCR; LacZ Transgenic Reporter Assay; Immunofluorescence; Pronuclear Microinjection; Genotyping PCR; Sanger Sequencing |
| Target gene : | Sox9 |
| TF name : | Sox9 |
| Regulatory State : | Active |
| 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 ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01518 | chr11:10999900-11000869 | testis | Sertoli cell | sex reversal |