Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_01306 |
| Species: | Mus musculus |
| Position : | chr13:116514002-116515994 |
| Year: | 2024 |
| Title: | A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders. |
| Genome Build: | mm10 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 39333082 |
| Tissue: | brainstem |
| Tissue Ontology ID: | UBERON:0002298 |
| Cell Source: | Embryonic cranial motor neurons |
| Cell Type: | motor neuron |
| Cell Ontology ID: | CL:0000100 |
| Experiment Type: | Enhancer activity assay; Single-cell chromatin accessibility profiling; Peak-to-gene linking; Histone modification profiling; Disease-variant functional analysis; In vivo functional validation |
| High Throughput Method: | scATAC-seq; scRNA-seq; scMultiome ATAC + Gene Expression; H3K27ac scCUT&Tag |
| Low Throughput Method: | In vivo transgenic lacZ reporter assay; In vivo phenotyping |
| Target gene : | Isl1 |
| TF name : | NA |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|