About Enhancer
| Enhancer ID: |
E_01_0905 |
| Species: |
human |
| Position :
|
chr1:93990596-93992596
  |
| Biosample name: |
|
| Experiment class :
|
High+Lowthroughput |
| Enhancer type: |
Enhancer |
| Disease: |
Retinal disease |
| Pubmed ID: |
31397521
|
| Enhancer experiment: |
Western blot, RT-PCR, gel electrophoresis |
| Enhancer experiment description: |
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. |
About Target gene
| Target gene : |
ABCA4 |
| Strong evidence: |
qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: |
RNA-Seq |
| Target gene experiment description: |
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. |
About TF
| TF name : |
-- |
| TF experiment: |
Western blot,RT-PCR,???? |
| TF experiment description: |
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. |
About Function
| Enhancer function : |
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. |
| Enhancer function experiment: |
Immunohistochemical staining |
Enhancer function
experiment description: |
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. |
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