About Enhancer

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.

About Target gene

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.

About TF

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.

About Function

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.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
HOXA2 Activation of anterior HOX genes in hindbrain development during early embryogenesis reactome 120

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs