About Enhancer
| Enhancer ID: | E_04685 |
| Species: | Homo sapiens |
| Position : | chrX:135632564-135633920   |
| Year: | 2024 |
| Title: | Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. |
| Genome Build: | hg19 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | X-linked acrogigantism |
| PMID: | 39272130 |
| MONDO: | MONDO:0010491 |
| Tissue: | blood |
| Tissue Ontology ID: | UBERON:0000178 |
| Cell Source: | X-LAG patient-derived PBMCs |
| Cell Type: | peripheral blood mononuclear cell |
| Cell Ontology ID: | CL:2000001 |
| Experiment Type: | Chromatin interaction assay; Structural variant functional assessment |
| High Throughput Method: | 4C-seq; Hi-C; high-density aCGH; 4C |
| Low Throughput Method: | ddPCR; breakpoint-junction PCR; Sanger sequencing |
About Target Gene
| Target gene : | GPR101 |
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)
1 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_04604 | chrX:135625877-135641072 | blood | peripheral blood mononuclear cell | NA |
Expression of Target Genes for the Enhancer