About Enhancer
| Enhancer ID: |
E_01_0208 |
| Species: |
human |
| Position :
|
chr5:70046788-70048788
  |
| Biosample name: |
|
| Experiment class :
|
High+Lowthroughput |
| Enhancer type: |
Enhancer |
| Disease: |
Spinal muscular atrophy |
| Pubmed ID: |
31636429
|
| Enhancer experiment: |
Western blot |
| Enhancer experiment description: |
The adenine base was substi_x0002_tuted in the SMN2 mini-gene and the effect of these mutations was evaluated in human cellular models (Fig. 3a). |
About Target gene
| Target gene : |
SMN2 |
| Strong evidence: |
qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: |
RNA-Seq |
| Target gene experiment description: |
The adenine base was substi_x0002_tuted in the SMN2 mini-gene and the effect of these mutations was evaluated in human cellular models (Fig. 3a). |
About TF
| TF name : |
-- |
| TF experiment: |
Western blot |
| TF experiment description: |
The adenine base was substi_x0002_tuted in the SMN2 mini-gene and the effect of these mutations was evaluated in human cellular models (Fig. 3a). |
About Function
| Enhancer function : |
The adenine base was substi_x0002_tuted in the SMN2 mini-gene and the effect of these mutations was evaluated in human cellular models (Fig. 3a). |
| Enhancer function experiment: |
Immunohistochemical staining |
Enhancer function
experiment description: |
The adenine base was substi_x0002_tuted in the SMN2 mini-gene and the effect of these mutations was evaluated in human cellular models (Fig. 3a). |
About SNP
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
Expression of target genes for the
enhancer
Enhancer associated SNPs