| Enhancer ID: | E_01_0846 |
| Species: | human |
| Position : | chr16:30111578-30113578 |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Schizophrenia |
| Pubmed ID: | 33246552 |
| Enhancer experiment: | Expression quantitative trait locus analysis, identification of epigenomic features, luciferase reporter assays, chromatin conformation capture, homology directed genome editing by CRISPR / cas9 (clustered regularly interspaced short palindromic repeats / cas9), RNA sequencing, and ATAC SEQ (assay for transposase accessible chromatin using sequencing) |
| Enhancer experiment description: | We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome. |
| Target gene : | MAPK3 |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome. |
| TF name : | -- |
| TF experiment: | ??????????????????????????????????????????CRISPR / Cas9?????????????????/ Cas9????????????RNA???ATAC-Seq?????????????????? |
| TF experiment description: | We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome. |
| Enhancer function : | We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
We found that the schizophrenia GWAS risk variations at 16p11.2 were significantly associated with mRNA levels of multiple genes in human brain, and one of the leading eQTL genes, MAPK3, located ~200-kb away from these risk variations in the genome. |
| SNP ID: | rs4420550 |
| GeneName | Pathway Name | Source | Gene Number |
|---|