Comprehensive information about experimentally validated enhancers
| Enhancer ID: | E_05252 |
| Species: | Homo sapiens |
| Position : | chr7:114541370-114542201 |
| Year: | 2015 |
| Title: | A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 26300977 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | K-562 |
| CVCL ID: | CVCL_0004 |
| Cell Type: | malignant cell |
| Cell Ontology ID: | CL:0001064 |
| Experiment Type: | Enhancer activity assay |
| High Throughput Method: | ChIP-seq |
| Low Throughput Method: | Luciferase Reporter Assay |
| Target gene : | FOXP2 |
| TF name : | NA |
| Regulatory State : | Active |
| GeneName | Pathway Name | Source | Gene Number |
|---|
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_03959 | chr7:114541370-114543683 | brain | neural cell model | speech and language disorder / childhood apraxia-associated regulatory locus |
| E_03960 | chr7:114541370-114543683 | brain | neural cell model | speech and language disorder-associated FOXP2 regulatory locus |
| E_05260 | chr7:114541370-114542201 | NA | NA | NA |