About Enhancer
| Enhancer ID: |
E_02_0485 |
| Species: |
human |
| Position :
|
chr12:1968286-1970286
  |
| Biosample name: |
|
| Experiment class :
|
High+Lowthroughput |
| Enhancer type: |
Enhancer |
| Disease: |
Bipolar disorder (bd), schizophrenia (scz) |
| Pubmed ID: |
30100087
|
| Enhancer experiment: |
Southern blot,PacBio,PCR |
| Enhancer experiment description: |
Genome-wide association studies have strongly and repeatedly linked risk for both of these neuropsychiatric diseases to a 100 kb interval in the third intron of the human calcium channel gene CACNA1C. |
About Target gene
| Target gene : |
CACNA1C(CACH2,CACN2,CACNL1A1,CCHL1A1,CaV1.2,LQT8,TS,TS.LQT8) |
| Strong evidence: |
qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: |
RNA-Seq |
| Target gene experiment description: |
Genome-wide association studies have strongly and repeatedly linked risk for both of these neuropsychiatric diseases to a 100 kb interval in the third intron of the human calcium channel gene CACNA1C. |
About TF
| TF name : |
-- |
| TF experiment: |
Southern blot,PacBio,PCR |
| TF experiment description: |
Genome-wide association studies have strongly and repeatedly linked risk for both of these neuropsychiatric diseases to a 100 kb interval in the third intron of the human calcium channel gene CACNA1C. |
About Function
| Enhancer function : |
Genome-wide association studies have strongly and repeatedly linked risk for both of these neuropsychiatric diseases to a 100 kb interval in the third intron of the human calcium channel gene CACNA1C. |
| Enhancer function experiment: |
Immunohistochemical staining |
Enhancer function
experiment description: |
Genome-wide association studies have strongly and repeatedly linked risk for both of these neuropsychiatric diseases to a 100 kb interval in the third intron of the human calcium channel gene CACNA1C. |
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