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 |