About Enhancer
| Enhancer ID: | E_03891 |
| Species: | Homo sapiens |
| Position : | chr12:98515210-98515289   |
| Year: | 2024 |
| Title: | SMCHD1 activates the expression of genes required for the expansion of human myoblasts. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | facioscapulohumeral muscular dystrophy 2 |
| PMID: | 38994563 |
| MONDO: | MONDO:0008031 |
| Tissue: | skeletal muscle tissue |
| Tissue Ontology ID: | UBERON:0001134 |
| Cell Source: | WS234 (donor 15Vbic) |
| Cell Type: | skeletal muscle myoblast |
| Cell Ontology ID: | CL:0000515 |
| Experiment Type: | Enhancer characterization; Chromatin regulator binding assay; Functional perturbation assay; Gene expression assay; Rescue assay |
| High Throughput Method: | RNA-seq; SMCHD1 ChIP-seq; H3K27ac CUT&Tag; H3K4me1 CUT&Tag; H3K4me3 CUT&Tag; H3K9me3 CUT&Tag; H3K27me3 CUT&Tag |
| Low Throughput Method: | shRNA-mediated SMCHD1 knockdown; shRNA-mediated TMPO/LAP2 knockdown; LAP2ζ± rescue/overexpression; EdU incorporation assay; cell proliferation assay |
About Target Gene
| Target gene : | TMPO |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer