Enhancer Detail

Comprehensive information about experimentally validated enhancers

About Enhancer
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
About Target Gene
Target gene : FOXP2
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 (hg19) 3 found
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
Expression of Target Genes for the Enhancer