Enhancer ID: | E_01_0951 |
Species: | human |
Position : | chr7:27097694-27099694 |
Biosample name: | |
Experiment class : | High+Lowthroughput |
Enhancer type: | Enhancer |
Disease: | Bilateral microtia |
Pubmed ID: | 32649979 |
Enhancer experiment: | PCR |
Enhancer experiment description: | Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
Target gene : | HMX1 |
Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
Less strong evidence: | RNA-Seq |
Target gene experiment description: | Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1.;Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
TF name : | HOXA2 |
TF experiment: | PCR |
TF experiment description: | Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1.;Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
Enhancer function : | Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
Enhancer function experiment: | Immunohistochemical staining |
Enhancer function experiment description: |
Using dual luciferase reporter assays,we showed that both HOXA2 mutations have impaired activation of the long-range enhancer of HMX1. |
SNP ID: | -- |
GeneName | Pathway Name | Source | Gene Number |
---|---|---|---|
HOXA2 | Activation of anterior HOX genes in hindbrain development during early embryogenesis | reactome | 120 |