About Enhancer
| Enhancer ID: | E_02_0472 |
| Species: | human |
| Position : | chr10:8042438-8044438   |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Neurosensory deafness |
| Pubmed ID: | 30126893 |
| Enhancer experiment: | PCR,Histological analysis |
| Enhancer experiment description: | Haploid deficiency of the human GATA3 gene leads to a dominantly inherited condition known as HDR (hypoparathyroidism, neural sensory deafness, and renal defect) syndrome (12), underscoring a prominent role for GATA3 in specifying normal developmental programing in the affected tissues. |
About Target gene
| Target gene : | GATA3(Gata-3,jal) |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | Haploid deficiency of the human GATA3 gene leads to a dominantly inherited condition known as HDR (hypoparathyroidism, neural sensory deafness, and renal defect) syndrome (12), underscoring a prominent role for GATA3 in specifying normal developmental programing in the affected tissues. |
About TF
| TF name : | -- |
| TF experiment: | PCR,Histological analysis |
| TF experiment description: | Haploid deficiency of the human GATA3 gene leads to a dominantly inherited condition known as HDR (hypoparathyroidism, neural sensory deafness, and renal defect) syndrome (12), underscoring a prominent role for GATA3 in specifying normal developmental programing in the affected tissues. |
About Function
| Enhancer function : | Haploid deficiency of the human GATA3 gene leads to a dominantly inherited condition known as HDR (hypoparathyroidism, neural sensory deafness, and renal defect) syndrome (12), underscoring a prominent role for GATA3 in specifying normal developmental programing in the affected tissues. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
Haploid deficiency of the human GATA3 gene leads to a dominantly inherited condition known as HDR (hypoparathyroidism, neural sensory deafness, and renal defect) syndrome (12), underscoring a prominent role for GATA3 in specifying normal developmental programing in the affected tissues. |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene