| Enhancer ID: | E_01_0618 |
| Species: | human |
| Position : | chr1:161036785-161038785 |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | Premature atherosclerosis |
| Pubmed ID: | 32585424 |
| Enhancer experiment: | Whole exome seq |
| Enhancer experiment description: | All possible rearrangements include a head-to-head fusion between a completely duplicated PCSK9 and a chromosomal region, normally situated ~80 kb away, that includes HNF4 and USF1 binding sites that could promote transcription of the PCSK9 gene. |
| Target gene : | PCSK9 |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | All possible rearrangements include a head-to-head fusion between a completely duplicated PCSK9 and a chromosomal region, normally situated ~80 kb away, that includes HNF4 and USF1 binding sites that could promote transcription of the PCSK9 gene.;All possible rearrangements include a head-to-head fusion between a completely duplicated PCSK9 and a chromosomal region, normally situated ~80 kb away, that includes HNF4 and USF1 binding sites that could promote transcription of the PCSK9 gene. |
| TF name : | USF1(FCHL,FCHL1,HYPLIP1,MLTF,MLTFI,UEF,bHLHb11) |
| TF experiment: | Whole exome seq |
| TF experiment description: | All possible rearrangements include a head-to-head fusion between a completely duplicated PCSK9 and a chromosomal region, normally situated ~80 kb away, that includes HNF4 and USF1 binding sites that could promote transcription of the PCSK9 gene.;All possible rearrangements include a head-to-head fusion between a completely duplicated PCSK9 and a chromosomal region, normally situated ~80 kb away, that includes HNF4 and USF1 binding sites that could promote transcription of the PCSK9 gene. |
| Enhancer function : | All possible rearrangements include a head-to-head fusion between a completely duplicated PCSK9 and a chromosomal region, normally situated ~80 kb away, that includes HNF4 and USF1 binding sites that could promote transcription of the PCSK9 gene. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
All possible rearrangements include a head-to-head fusion between a completely duplicated PCSK9 and a chromosomal region, normally situated ~80 kb away, that includes HNF4 and USF1 binding sites that could promote transcription of the PCSK9 gene. |
| SNP ID: | -- |
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| USF1 | Signaling mediated by p38-alpha and p38-beta | pid | 35 |